ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87268
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_014028.4(OSTM1):c.*2362A>G rs201149316 0.22949
NM_153717.3(EVC):c.*1112T>C rs28460555 0.20666
NM_004937.3(CTNS):c.*1053T>G rs1048677 0.18814
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001017420.3(ESCO2):c.*76_*79dup rs139887923 0.15273
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_006208.3(ENPP1):c.*1240T>C rs758925757 0.10712
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001042472.3(ABHD12):c.-44C>G rs373200654 0.06100
NM_020661.4(AICDA):c.*1137A>G rs867594346 0.05656
NM_004525.3(LRP2):c.428-8T>A rs761869255 0.05647
NM_182548.4(LHFPL5):c.*510A>T rs139510846 0.05556
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_014053.4(FLVCR1):c.*1566A>T rs113327053 0.05268
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_182548.4(LHFPL5):c.*477T>C rs868411000 0.04547
NM_001367624.2(ZNF469):c.*634C>A rs74032868 0.03588
NM_020661.4(AICDA):c.*1136A>G rs371020938 0.03007
NM_014363.6(SACS):c.-531G>A rs73154650 0.02896
NM_182548.4(LHFPL5):c.*506A>T rs370002177 0.02744
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_020631.6(PLEKHG5):c.1393-16C>G rs747761762 0.02500
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_182548.4(LHFPL5):c.*479T>C rs367730858 0.02419
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952 0.02416
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_182548.4(LHFPL5):c.*199A>G rs9470110 0.02252
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_018136.5(ASPM):c.-110C>T rs74981632 0.02032
NM_001127649.3(PEX26):c.*1627G>T rs1056492732 0.01991
NM_004744.5(LRAT):c.*2625A>G rs77071498 0.01933
NM_147196.3(TMIE):c.*260C>A rs62246206 0.01904
NM_182548.4(LHFPL5):c.*459C>T rs886061352 0.01890
NM_018075.5(ANO10):c.*179C>T rs111871863 0.01862
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_004999.4(MYO6):c.-49C>G rs149130280 0.01849
NM_182548.4(LHFPL5):c.*449C>T rs57339676 0.01785
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_014053.4(FLVCR1):c.-156del rs373452417 0.01681
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_002230.4(JUP):c.*853C>T rs55919561 0.01530
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_002230.4(JUP):c.*623G>A rs55634776 0.01451
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_002855.5(NECTIN1):c.*3440G>A rs113799084 0.01372
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_002855.5(NECTIN1):c.*2413A>G rs78968779 0.01307
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_194248.3(OTOF):c.-113G>A rs79734645 0.01288
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_004999.4(MYO6):c.*2547G>A rs148652044 0.01269
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01241
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_000243.3(MEFV):c.*845C>T rs371608683 0.01225
NM_015910.7(WDPCP):c.*604_*605del rs886056219 0.01222
NM_014053.4(FLVCR1):c.*2059T>C rs6688825 0.01209
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_182548.4(LHFPL5):c.*514T>A rs575842617 0.01191
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_018699.4(PRDM5):c.*120T>C rs77157999 0.01181
NM_016239.4(MYO15A):c.8262G>A (p.Thr2754=) rs1006770 0.01178
NM_001256317.3(TMPRSS3):c.*777G>T rs35447393 0.01161
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_004452.4(ESRRB):c.-324G>A rs79948698 0.01117
NM_144596.4(TTC8):c.*57C>T rs74079414 0.01106
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_004999.4(MYO6):c.*3632T>G rs9443200 0.01093
NM_012414.4(RAB3GAP2):c.*1143A>G rs865932881 0.01091
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_001278293.3(ARL6):c.*284C>A rs148380165 0.01054
NM_024296.5(CCDC28B):c.330C>T (p.Phe110=) rs41263993 0.01032
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_018075.5(ANO10):c.-104C>T rs6799022 0.01014
NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys) rs571655 0.01009
NM_015294.6(TRIM37):c.*977del rs112918162 0.01009
NM_207361.6(FREM2):c.*5616T>A rs570011150 0.01008
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_002906.4(RDX):c.*885G>A rs142279957 0.00999
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000553.5(WRN):c.-605C>A rs11574155 0.00988
NM_001379180.1(ESRRB):c.*3347A>T rs151183297 0.00988
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00963
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_000208.4(INSR):c.*2318G>A rs80330850 0.00953
NM_001042702.5(PJVK):c.-45T>A rs74435413 0.00950
NM_001042702.5(PJVK):c.-303G>A rs114119504 0.00949
NM_001042702.5(PJVK):c.-263G>A rs116368316 0.00948
NM_002241.5(KCNJ10):c.*2242T>C rs115120891 0.00948
NM_014425.5(INVS):c.*467A>T rs10819755 0.00948
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_032575.3(GLIS2):c.*916G>A rs72766567 0.00935
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_014363.6(SACS):c.*916T>A rs75389729 0.00926
NM_002855.5(NECTIN1):c.*1139G>A rs60405761 0.00920
NM_174878.3(CLRN1):c.*298T>C rs769104257 0.00900
NM_006432.5(NPC2):c.*295C>G rs113587712 0.00892
NM_000023.4(SGCA):c.*134del rs201486782 0.00891
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_000441.2(SLC26A4):c.*614C>T rs77315223 0.00874
NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln) rs78809001 0.00872
NM_182548.4(LHFPL5):c.*425C>T rs13204950 0.00866
NM_194248.3(OTOF):c.*440T>C rs112949167 0.00865
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_001367624.2(ZNF469):c.*665G>A rs75706884 0.00863
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982 0.00854
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) rs139066376 0.00852
NM_004744.5(LRAT):c.*2529C>T rs185391295 0.00852
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_016239.4(MYO15A):c.4206+13C>G rs141183007 0.00838
NM_017433.5(MYO3A):c.*493G>A rs72787376 0.00838
NM_002855.5(NECTIN1):c.*1554G>A rs77555237 0.00835
NM_015665.6(AAAS):c.-130C>T rs149864679 0.00832
NM_207361.6(FREM2):c.*1321G>A rs78527665 0.00828
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696 0.00819
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_004999.4(MYO6):c.*4464C>T rs79815348 0.00798
NM_018972.4(GDAP1):c.*2298A>G rs4551344 0.00796
NM_003673.4(TCAP):c.*395C>T rs45540732 0.00792
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_005522.5(HOXA1):c.*1345T>C rs114796827 0.00781
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474 0.00780
NM_001039958.2(MESP2):c.585A>G (p.Gly195=) rs113636330 0.00779
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_001256317.3(TMPRSS3):c.*815A>G rs116974943 0.00777
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_002855.5(NECTIN1):c.*532T>C rs138678304 0.00777
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_138691.3(TMC1):c.-275G>A rs58824091 0.00773
NM_002855.5(NECTIN1):c.264C>T (p.Ser88=) rs7131391 0.00772
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_147196.3(TMIE):c.*642C>T rs78774613 0.00765
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_207361.6(FREM2):c.*4907C>T rs185608262 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_001083961.2(WDR62):c.*5G>A rs61740165 0.00745
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_173477.5(USH1G):c.*680C>G rs55744500 0.00734
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_000370.3(TTPA):c.*578T>C rs886063065 0.00730
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_022124.6(CDH23):c.*173C>T rs143222936 0.00719
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_002855.5(NECTIN1):c.*607C>A rs187441699 0.00715
NM_004999.4(MYO6):c.-225G>C rs886061759 0.00715
NM_018075.5(ANO10):c.*447G>A rs112787589 0.00714
NM_001366722.1(GRIP1):c.*138C>T rs191549204 0.00713
NM_000260.4(MYO7A):c.*392A>G rs144527614 0.00712
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) rs116213189 0.00697
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_182548.4(LHFPL5):c.*465T>C rs199534465 0.00688
NM_016239.4(MYO15A):c.3140C>G (p.Pro1047Arg) rs77565048 0.00686
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00684
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_021252.5(RAB18):c.*2327T>C rs183252579 0.00679
NM_002906.4(RDX):c.1059A>G (p.Gln353=) rs139953187 0.00677
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00671
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_000271.5(NPC1):c.*309_*315del rs145236115 0.00648
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_002230.4(JUP):c.*1027G>C rs147905567 0.00640
NM_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_000317.3(PTS):c.*60T>C rs149320135 0.00631
NM_001195794.1(CLRN1):c.-289G>A rs55842922 0.00630
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_002906.4(RDX):c.*1083G>A rs114509945 0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_018972.4(GDAP1):c.*444A>G rs113377784 0.00620
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_000243.3(MEFV):c.*639G>A rs181380218 0.00614
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) rs61731629 0.00612
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_002906.4(RDX):c.*79A>C rs55953813 0.00607
NM_002617.4(PEX10):c.-52_-51del rs570192538 0.00605
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_002855.5(NECTIN1):c.*1132G>A rs147857166 0.00595
NM_001367624.2(ZNF469):c.*264A>G rs193210256 0.00591
NM_000492.4(CFTR):c.53+324A>G rs78171410 0.00590
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=) rs113227277 0.00590
NM_001384474.1(LOXHD1):c.2599-11C>T rs150139569 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_001146079.2(CLDN14):c.-297G>A rs140333712 0.00588
NM_033028.5(BBS4):c.*611C>T rs41277724 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_138694.4(PKHD1):c.*2967T>A rs41273714 0.00582
NM_182548.4(LHFPL5):c.-63C>G rs41270084 0.00582
NM_018075.5(ANO10):c.-83T>C rs760135054 0.00581
NM_003630.3(PEX3):c.*958T>C rs41285019 0.00578
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_004744.5(LRAT):c.*3264G>A rs115053323 0.00575
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_017777.4(MKS1):c.*322G>T rs185405908 0.00571
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=) rs185688918 0.00559
NM_000441.2(SLC26A4):c.*1905G>A rs375630290 0.00558
NM_002855.5(NECTIN1):c.*1337T>C rs114244021 0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_000163.5(GHR):c.*2292A>G rs35415717 0.00551
NM_002241.5(KCNJ10):c.*2596A>G rs116418256 0.00551
NM_002485.5(NBN):c.*987T>G rs78935210 0.00547
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001692.4(ATP6V1B1):c.-19C>T rs115563001 0.00542
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_182548.4(LHFPL5):c.-132A>G rs143126474 0.00538
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_002485.5(NBN):c.*401C>G rs104895030 0.00535
NM_182548.4(LHFPL5):c.*803A>G rs73404033 0.00535
NM_004999.4(MYO6):c.*3288T>C rs118121148 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_001351132.2(PEX5):c.*81A>C rs183460108 0.00529
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_002230.4(JUP):c.*239G>A rs115919416 0.00526
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_033064.5(ATCAY):c.*1193T>A rs192536222 0.00517
NM_000243.3(MEFV):c.*701G>A rs368896227 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000124.4(ERCC6):c.*2680A>C rs35471849 0.00511
NM_002906.4(RDX):c.-149C>T rs575111883 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
NM_005522.5(HOXA1):c.*181G>A rs145102625 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_005522.5(HOXA1):c.*563G>C rs117011404 0.00502
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_001098484.3(SLC4A4):c.2764-2dup rs148961885 0.00498
NM_017433.5(MYO3A):c.*270A>G rs115859827 0.00498
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_014321.4(ORC6):c.*598G>A rs201605699 0.00497
NM_000329.3(RPE65):c.*339A>G rs74084043 0.00496
NM_003630.3(PEX3):c.*220G>A rs117247312 0.00495
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_017433.5(MYO3A):c.1971T>C (p.Thr657=) rs112195128 0.00489
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_001044385.3(TMEM237):c.*962A>C rs142403941 0.00484
NM_001044385.3(TMEM237):c.*969A>G rs137925244 0.00484
NM_001374623.1(PNPLA1):c.1595+640G>A rs137961117 0.00484
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_006185.4(NUMA1):c.-103+136G>A rs116038324 0.00480
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_001127671.2(LIFR):c.*6395T>C rs141407987 0.00474
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671 0.00473
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_001267550.2(TTN):c.*587T>A rs114788736 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003619.4(PRSS12):c.*1615C>T rs150249635 0.00471
NM_022098.4(XPNPEP3):c.*5327A>C rs141571227 0.00471
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) rs55688805 0.00470
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_002241.5(KCNJ10):c.*1161T>C rs149832483 0.00464
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_017433.5(MYO3A):c.2169T>C (p.Asn723=) rs114982270 0.00462
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_002241.5(KCNJ10):c.*266T>A rs144487288 0.00459
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_001098484.3(SLC4A4):c.*1003A>G rs41265675 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_018075.5(ANO10):c.*368C>T rs114561351 0.00457
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562 0.00456
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) rs139347804 0.00451
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_002617.4(PEX10):c.*686C>G rs41310349 0.00448
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) rs139437157 0.00444
NM_002906.4(RDX):c.*429G>A rs146390813 0.00444
NM_014053.4(FLVCR1):c.*1739C>T rs191112278 0.00444
NM_001048166.1(STIL):c.*545C>T rs181264069 0.00440
NM_001367624.2(ZNF469):c.*599C>G rs146233624 0.00440
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_194248.3(OTOF):c.*341G>A rs549185736 0.00435
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237 0.00433
NM_003673.4(TCAP):c.*54G>A rs45592941 0.00433
NM_021252.5(RAB18):c.*557G>A rs77758705 0.00432
NM_182548.4(LHFPL5):c.*778C>T rs146335201 0.00432
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00421
NM_001127671.2(LIFR):c.*1474T>G rs567565130 0.00421
NM_004452.4(ESRRB):c.-236C>T rs181925962 0.00421
NM_032119.4(ADGRV1):c.6320A>C (p.Gln2107Pro) rs181475191 0.00421
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) rs145980033 0.00420
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_014042.3(ANAPC15):c.121-132T>A rs142914900 0.00418
NM_032575.3(GLIS2):c.*1826C>T rs757541 0.00418
NM_002855.5(NECTIN1):c.*2416A>G rs370905459 0.00417
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) rs181092713 0.00416
NM_002618.4(PEX13):c.*2356T>C rs139999174 0.00416
NM_001384474.1(LOXHD1):c.*96G>A rs569671846 0.00415
NM_016239.4(MYO15A):c.3201G>A (p.Ala1067=) rs148356427 0.00415
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_016239.4(MYO15A):c.-203C>T rs55821557 0.00412
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_017433.5(MYO3A):c.1777-14G>T rs4592324 0.00409
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val) rs35629953 0.00409
NM_001256317.3(TMPRSS3):c.*755G>T rs146774207 0.00408
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001127671.2(LIFR):c.*5060T>A rs183333459 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_001127671.2(LIFR):c.*1540A>G rs547319835 0.00401
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_002180.3(IGHMBP2):c.*425G>A rs144205786 0.00401
NM_014363.6(SACS):c.*821A>G rs145184122 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_153717.3(EVC):c.*1136T>C rs71599852 0.00394
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_001146079.2(CLDN14):c.-242C>T rs78291168 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_018389.5(SLC35C1):c.-88T>G rs546865255 0.00386
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_006208.3(ENPP1):c.*96C>T rs147396850 0.00384
NM_012414.4(RAB3GAP2):c.*1821C>T rs144988111 0.00382
NM_021252.5(RAB18):c.*741A>G rs114899806 0.00382
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_002855.5(NECTIN1):c.*3714A>T rs146163519 0.00375
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) rs186652137 0.00374
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00372
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_003673.4(TCAP):c.*199G>T rs45503594 0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_021628.3(ALOXE3):c.*514T>G rs80223722 0.00367
NM_006996.2(SLC19A2):c.-196C>A rs72542444 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000243.3(MEFV):c.*74C>T rs11466050 0.00365
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_032119.4(ADGRV1):c.*259A>G rs147905321 0.00365
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_207361.6(FREM2):c.*2884G>T rs191748020 0.00362
NM_000492.4(CFTR):c.53+8298C>G rs35616800 0.00361
NM_003896.4(ST3GAL5):c.*415T>C rs112372963 0.00361
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) rs148433261 0.00361
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_004999.4(MYO6):c.*1324A>G rs191987417 0.00357
NM_004999.4(MYO6):c.*2716A>G rs188568413 0.00357
NM_004999.4(MYO6):c.*1607C>T rs77813459 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_000243.3(MEFV):c.*1029G>C rs142648477 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_004999.4(MYO6):c.*4481T>C rs142744723 0.00350
NM_014321.4(ORC6):c.*594A>G rs191163536 0.00350
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_018389.5(SLC35C1):c.-653C>T rs150274138 0.00348
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_018075.5(ANO10):c.-31G>C rs533146042 0.00347
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_002241.5(KCNJ10):c.*2034C>T rs192835895 0.00345
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927 0.00344
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_000318.3(PEX2):c.*1174A>G rs562263817 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_182548.4(LHFPL5):c.*461T>C rs868561014 0.00343
NM_001366722.1(GRIP1):c.*930T>A rs138773990 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_002855.5(NECTIN1):c.*481C>T rs148928883 0.00341
NM_014363.6(SACS):c.*625T>A rs186505479 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_005522.5(HOXA1):c.566A>C (p.Glu189Ala) rs17500494 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_003860.4(BANF1):c.-70T>G rs35208625 0.00339
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_182548.4(LHFPL5):c.*779G>A rs139570565 0.00333
NM_002855.5(NECTIN1):c.*2751G>A rs368910346 0.00332
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_017433.5(MYO3A):c.-30A>G rs189912098 0.00332
NM_018319.3(TDP1):c.-292G>T rs577403021 0.00332
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) rs201487604 0.00331
NM_001042702.5(PJVK):c.-84C>T rs183157169 0.00330
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr) rs144986357 0.00330
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=) rs186829587 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_000441.2(SLC26A4):c.*1123A>G rs141341508 0.00322
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000124.4(ERCC6):c.*2602A>G rs41281953 0.00319
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_147196.2(TMIE):c.-154G>A rs527373499 0.00318
NM_001098484.3(SLC4A4):c.*3469A>G rs183839914 0.00317
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_000553.6(WRN):c.*574C>T rs11574416 0.00316
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_012210.4(TRIM32):c.*1077C>T rs41266677 0.00314
NM_153717.3(EVC):c.-35C>A rs546318095 0.00314
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_207361.5(FREM2):c.-285C>G rs573143355 0.00312
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_000070.3(CAPN3):c.-131G>T rs113881834 0.00309
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_001127649.3(PEX26):c.*954T>C rs188986907 0.00307
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
NM_018718.3(CEP41):c.*2116T>C rs190709953 0.00306
NM_001127671.2(LIFR):c.*3748T>C rs144332222 0.00305
NM_018319.4(TDP1):c.*496G>A rs34796911 0.00305
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_000318.3(PEX2):c.*1012C>T rs181539288 0.00300
NM_002618.4(PEX13):c.*956G>T rs141215166 0.00300
NM_004937.3(CTNS):c.-213T>C rs537567463 0.00300
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_182548.4(LHFPL5):c.*169G>C rs181922784 0.00299
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_182548.4(LHFPL5):c.*231G>C rs189788458 0.00298
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001267550.2(TTN):c.*1015A>G rs72629798 0.00294
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_138694.4(PKHD1):c.*232T>G rs147372425 0.00294
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_004999.4(MYO6):c.*1287T>A rs570884031 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_000124.4(ERCC6):c.*3280A>G rs146690522 0.00291
NM_000329.3(RPE65):c.*192A>G rs142768806 0.00291
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_004937.2(CTNS):c.-497C>T rs530371788 0.00291
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_002618.4(PEX13):c.*383A>T rs149099359 0.00290
NM_002906.4(RDX):c.*156A>G rs186249296 0.00290
NM_018718.3(CEP41):c.*593G>A rs186685101 0.00290
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu) rs147031440 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) rs114293092 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_153717.3(EVC):c.-36G>A rs577263762 0.00288
NM_001127649.3(PEX26):c.*828C>T rs551641353 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001366722.1(GRIP1):c.*99G>A rs200232418 0.00287
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00287
NM_004744.5(LRAT):c.*2741_*2743dup rs528370871 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_207361.6(FREM2):c.*2266C>G rs149807035 0.00285
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_018718.3(CEP41):c.*4322G>A rs538898722 0.00283
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_153240.5(NPHP3):c.*1188A>G rs7632096 0.00282
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728 0.00281
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser) rs62620227 0.00280
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=) rs115835484 0.00279
NM_017791.3(FLVCR2):c.*756A>G rs78654241 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_003701.4(TNFSF11):c.-94C>T rs199818393 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_020661.4(AICDA):c.*446G>A rs104894982 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_015294.6(TRIM37):c.*1025A>G rs914 0.00274
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_004999.4(MYO6):c.*1627A>G rs147347025 0.00273
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_004525.3(LRP2):c.*1107G>T rs886055072 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_001384474.1(LOXHD1):c.2307C>T (p.Ser769=) rs115658952 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_014053.4(FLVCR1):c.*2164G>A rs143656000 0.00270
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00270
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser) rs184894059 0.00268
NM_002906.4(RDX):c.*1955A>G rs138942667 0.00268
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_021628.3(ALOXE3):c.*538G>A rs141745580 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser) rs573884006 0.00266
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_013382.7(POMT2):c.*176C>T rs143803905 0.00265
NM_178170.3(NEK8):c.*328C>T rs191309632 0.00265
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg) rs72650362 0.00264
NM_001205254.2(OCLN):c.452C>T (p.Ala151Val) rs28562785 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_016239.4(MYO15A):c.*117C>A rs140504536 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_000441.2(SLC26A4):c.*1059T>C rs183926745 0.00260
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_001384140.1(PCDH15):c.4368-1535T>C rs142158601 0.00260
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_004937.3(CTNS):c.-258G>A rs559229383 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_145702.4(TIGD1):c.*2040C>T rs111802317 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000318.3(PEX2):c.*2894T>C rs569387185 0.00257
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) rs61740253 0.00257
NM_000277.3(PAH):c.*650A>G rs180991851 0.00256
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_000337.6(SGCD):c.*158G>A rs187465743 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_021252.5(RAB18):c.*419G>A rs569311945 0.00253
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_015665.6(AAAS):c.-73G>A rs561616104 0.00252
NM_024753.5(TTC21B):c.-17C>T rs572065013 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_005708.5(GPC6):c.*1610A>C rs189449594 0.00249
NM_000208.4(INSR):c.*3298C>T rs184243377 0.00248
NM_002855.5(NECTIN1):c.*185T>C rs543648905 0.00248
NM_003673.4(TCAP):c.*76G>T rs45506294 0.00248
NM_004407.4(DMP1):c.879T>C (p.Ser293=) rs150896376 0.00248
NM_005708.5(GPC6):c.*1419C>T rs184249476 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_002855.5(NECTIN1):c.*315T>C rs565357962 0.00247
NM_000163.5(GHR):c.*364C>T rs34929920 0.00245
NM_000337.6(SGCD):c.*8110A>C rs796540027 0.00245
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00245
NM_014363.6(SACS):c.-367C>A rs145469796 0.00245
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_022098.4(XPNPEP3):c.*4990A>G rs146033951 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_147196.3(TMIE):c.-73C>T rs560968971 0.00243
NM_014363.6(SACS):c.-59C>A rs150561537 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_000553.6(WRN):c.1981+11A>G rs189999761 0.00240
NM_001379180.1(ESRRB):c.*2382G>A rs190764707 0.00240
NM_144508.5(KNL1):c.4619G>A (p.Gly1540Glu) rs183316447 0.00240
NM_152618.3(BBS12):c.*804A>G rs151076630 0.00240
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_014875.3(KIF14):c.1184C>T (p.Thr395Met) rs138621008 0.00238
NM_182548.4(LHFPL5):c.*433C>T rs866719068 0.00238
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_000211.5(ITGB2):c.525C>T (p.Thr175=) rs200134130 0.00236
NM_000441.2(SLC26A4):c.*200A>T rs112260663 0.00236
NM_002855.5(NECTIN1):c.*84C>T rs559757852 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu) rs147749053 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000211.5(ITGB2):c.*168G>T rs755328937 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_032193.4(RNASEH2C):c.*1699G>C rs149989742 0.00233
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_000320.3(QDPR):c.*568T>G rs560933456 0.00230
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) rs200341414 0.00230
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_138694.4(PKHD1):c.*1005C>T rs41273716 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_153717.3(EVC):c.*1248T>G rs559890176 0.00230
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) rs189501562 0.00228
NM_004999.4(MYO6):c.*3914T>C rs541767003 0.00228
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_001379180.1(ESRRB):c.1120+8C>T rs373429794 0.00226
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_005708.5(GPC6):c.-307T>A rs184142888 0.00225
NM_018249.6(CDK5RAP2):c.34G>C (p.Val12Leu) rs146839668 0.00224
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_002310.6(LIFR):c.-129T>G rs55892837 0.00223
NM_016239.4(MYO15A):c.2020C>T (p.Pro674Ser) rs557225435 0.00223
NM_016938.5(EFEMP2):c.*115G>A rs187686630 0.00223
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000163.5(GHR):c.99C>G (p.Pro33=) rs76183160 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_130384.3(ATRIP):c.*655G>C rs577465983 0.00222
NM_207361.6(FREM2):c.*3650A>G rs544403648 0.00222
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_014053.4(FLVCR1):c.*3226T>C rs114795134 0.00221
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_194248.3(OTOF):c.-91G>A rs139010880 0.00221
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_003630.3(PEX3):c.-96G>T rs375554173 0.00220
NM_018718.3(CEP41):c.*1974A>G rs185337247 0.00220
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001367624.2(ZNF469):c.*420G>A rs45532839 0.00219
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001139.3(ALOX12B):c.135T>C (p.Phe45=) rs117483056 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_182548.4(LHFPL5):c.*1035C>T rs186453856 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_000782.5(CYP24A1):c.*1135C>T rs149240951 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_002906.4(RDX):c.-169C>T rs371468276 0.00215
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
NM_000329.3(RPE65):c.*511G>A rs149449684 0.00214
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_016239.4(MYO15A):c.5133+15A>G rs150128469 0.00214
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_002230.4(JUP):c.-96G>A rs552101358 0.00212
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_014363.6(SACS):c.*777T>C rs77645021 0.00211
NM_018063.5(HELLS):c.2182A>G (p.Ile728Val) rs116043383 0.00211
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_001386140.1(MTTP):c.*382T>C rs556994625 0.00210
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444 0.00210
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_033064.5(ATCAY):c.*687C>A rs377406299 0.00209
NM_182548.4(LHFPL5):c.*427C>T rs879669569 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_021628.3(ALOXE3):c.*618T>C rs549813198 0.00208
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_001367624.2(ZNF469):c.*421G>T rs148260049 0.00207
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_004937.3(CTNS):c.*942C>T rs140127855 0.00207
NM_006005.3(WFS1):c.-130C>T rs576284630 0.00207
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_000208.4(INSR):c.*1917G>C rs186013503 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_002635.4(SLC25A3):c.*255T>G rs540509043 0.00205
NM_002855.5(NECTIN1):c.*2509G>A rs116014183 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_017433.5(MYO3A):c.2973G>T (p.Arg991=) rs146647767 0.00204
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_018136.5(ASPM):c.1922-14C>G rs189193044 0.00203
NM_018389.5(SLC35C1):c.*1322A>G rs148127105 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_004744.5(LRAT):c.*3T>G rs200942685 0.00202
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_015272.5(RPGRIP1L):c.*1385A>G rs150194508 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_018718.3(CEP41):c.*3274G>A rs112007936 0.00199
NM_001366722.1(GRIP1):c.-172A>G rs188800373 0.00198
NM_004937.3(CTNS):c.*835A>C rs57765820 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_020779.4(WDR35):c.*3225G>A rs189820516 0.00198
NM_020779.4(WDR35):c.*3235C>A rs186978842 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_003896.3(ST3GAL5):c.-91G>A rs879798501 0.00197
NM_004407.4(DMP1):c.159C>T (p.Gly53=) rs144471060 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) rs201943633 0.00196
NM_003801.4(GPAA1):c.1622+3A>G rs146686863 0.00196
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala) rs35413340 0.00196
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_153704.6(TMEM67):c.*1653G>A rs544858713 0.00196
NM_194248.3(OTOF):c.509+11G>A rs200010052 0.00196
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738 0.00195
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg) rs568554504 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_015272.5(RPGRIP1L):c.*1461A>T rs184079732 0.00195
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_003383.5(VLDLR):c.*46C>G rs35412127 0.00193
NM_021252.5(RAB18):c.*635G>A rs558244526 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_144709.4(PUS10):c.-16+316G>A rs571713221 0.00193
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_001351132.2(PEX5):c.-16-274G>A rs542096066 0.00191
NM_004525.3(LRP2):c.*1049G>A rs528016062 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_012210.4(TRIM32):c.*1152A>G rs557939030 0.00190
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) rs200583193 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001367624.2(ZNF469):c.*518G>A rs563015267 0.00189
NM_002906.4(RDX):c.*1251A>C rs541339386 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_003701.4(TNFSF11):c.-144G>C rs201859220 0.00188
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000337.6(SGCD):c.*2604T>C rs541571525 0.00187
NM_001039958.2(MESP2):c.*107T>C rs187988937 0.00187
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_003630.2(PEX3):c.-247T>C rs138955442 0.00187
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000208.4(INSR):c.-12G>C rs143135433 0.00186
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_001278293.3(ARL6):c.*495C>T rs188498639 0.00186
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001384474.1(LOXHD1):c.*124A>G rs144543819 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_002618.4(PEX13):c.*3106T>C rs148515938 0.00183
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_000208.4(INSR):c.*3009del rs140355086 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_025074.7(FRAS1):c.*938A>G rs559819253 0.00182
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_000124.4(ERCC6):c.-22G>A rs4253006 0.00181
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_002241.5(KCNJ10):c.*2479G>A rs142986779 0.00181
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_017755.6(NSUN2):c.-13G>C rs558458633 0.00181
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser) rs138954293 0.00180
NM_018075.5(ANO10):c.1954A>G (p.Met652Val) rs147989825 0.00180
NM_032575.3(GLIS2):c.*1761C>T rs370625022 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687 0.00179
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_002617.4(PEX10):c.*643C>T rs150136015 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_018389.5(SLC35C1):c.-633T>G rs566857902 0.00177
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys) rs145521296 0.00177
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_033028.5(BBS4):c.*737T>C rs572076143 0.00176
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_001145809.2(MYH14):c.*243G>A rs561898739 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_012414.4(RAB3GAP2):c.*1538T>C rs143472001 0.00175
NM_032575.3(GLIS2):c.*1161G>A rs78428657 0.00175
NM_001278293.3(ARL6):c.-137A>C rs192372191 0.00174
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004999.4(MYO6):c.*301G>A rs116215208 0.00173
NM_013382.7(POMT2):c.*606G>A rs141262145 0.00173
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_153717.3(EVC):c.*1243A>G rs111984543 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000260.4(MYO7A):c.*38G>A rs149296177 0.00172
NM_000782.5(CYP24A1):c.-307G>T rs562743240 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_004744.5(LRAT):c.*3712G>C rs144961748 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001127649.3(PEX26):c.*1156T>C rs565644082 0.00171
NM_001127649.3(PEX26):c.*1194G>A rs118188952 0.00171
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly) rs35942532 0.00171
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val) rs145344421 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_004565.3(PEX14):c.*576A>G rs530124005 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_018718.3(CEP41):c.*1056A>C rs574982700 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_182548.4(LHFPL5):c.*419T>C rs146860559 0.00170
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_024596.5(MCPH1):c.2466G>A (p.Gln822=) rs35614690 0.00169
NM_206933.4(USH2A):c.4627+562C>T rs769348449 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=) rs144944366 0.00167
NM_006208.3(ENPP1):c.*3920G>A rs111741864 0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.4627+1133G>A rs138139294 0.00167
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_012188.5(FOXI1):c.30C>T (p.Ser10=) rs137901435 0.00166
NM_020247.4(COQ8A):c.-137C>A rs557786445 0.00166
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_024570.4(RNASEH2B):c.*246A>G rs147825612 0.00166
NM_032575.3(GLIS2):c.*1988A>G rs139152543 0.00166
NM_001142279.2(RNASEH2B):c.-399C>G rs553965425 0.00165
NM_033064.5(ATCAY):c.*3332C>A rs59578136 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_012414.4(RAB3GAP2):c.*2102C>A rs149913096 0.00164
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000492.4(CFTR):c.*482C>T rs147862180 0.00163
NM_001044385.3(TMEM237):c.*308T>G rs185380807 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_018718.3(CEP41):c.*5068G>A rs148856430 0.00163
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_206933.4(USH2A):c.4627+281T>C rs570544314 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953 0.00162
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_001083961.2(WDR62):c.253G>A (p.Val85Met) rs146274964 0.00161
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) rs61760172 0.00161
NM_002855.5(NECTIN1):c.*3136G>A rs76084281 0.00161
NM_012414.4(RAB3GAP2):c.-86T>C rs535968000 0.00161
NM_018718.3(CEP41):c.*740C>T rs553917711 0.00161
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_012210.4(TRIM32):c.*512A>T rs144172952 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_000466.3(PEX1):c.*292G>A rs138531138 0.00159
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
NM_001184.3(ATR):c.-91C>G rs189343119 0.00159
NM_002180.3(IGHMBP2):c.*466G>A rs542162905 0.00159
NM_002241.5(KCNJ10):c.*1839C>T rs138511291 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_001146079.2(CLDN14):c.*48G>A rs199523516 0.00158
NM_004004.6(GJB2):c.*1016A>G rs537683957 0.00158
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_002855.5(NECTIN1):c.*352C>T rs59681945 0.00157
NM_002855.5(NECTIN1):c.635G>A (p.Arg212His) rs142930935 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_018451.5(CENPJ):c.*303C>A rs886050094 0.00157
NM_018451.5(CENPJ):c.175A>G (p.Thr59Ala) rs138732534 0.00157
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_001044385.3(TMEM237):c.*3855A>G rs187328136 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00156
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_001351132.2(PEX5):c.*179A>G rs192786621 0.00155
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927 0.00155
NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) rs199991707 0.00155
NM_015665.6(AAAS):c.1249+8G>A rs200834285 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala) rs146023695 0.00155
NM_025074.7(FRAS1):c.*1547C>G rs186398273 0.00155
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00155
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn) rs191511427 0.00154
NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) rs202141932 0.00154
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000492.4(CFTR):c.*684A>G rs146818281 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_004744.5(LRAT):c.*3819T>C rs191600425 0.00153
NM_006892.4(DNMT3B):c.*55G>T rs148465200 0.00153
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_201384.3(PLEC):c.2237G>A (p.Arg746His) rs200887085 0.00153
NM_003332.4(TYROBP):c.-34C>T rs199931680 0.00152
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile) rs144322413 0.00152
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_178170.3(NEK8):c.618+12C>T rs11649957 0.00152
NM_001098484.3(SLC4A4):c.2311C>T (p.Pro771Ser) rs140882617 0.00151
NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) rs145731510 0.00151
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) rs200250962 0.00151
NM_004999.4(MYO6):c.*4095G>A rs185154265 0.00151
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_001378454.1(ALMS1):c.*105A>G rs553541249 0.00150
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977 0.00150
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro) rs142536561 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_000318.3(PEX2):c.*659C>G rs551943990 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_001098484.3(SLC4A4):c.2051A>T (p.Asn684Ile) rs35891845 0.00148
NM_001134831.2(AHI1):c.*1404A>G rs149288894 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_000124.4(ERCC6):c.*3684A>G rs570822434 0.00147
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_003619.4(PRSS12):c.*574A>G rs191638317 0.00147
NM_005982.4(SIX1):c.*249A>G rs867880214 0.00147
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383 0.00147
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_006397.3(RNASEH2A):c.-49C>T rs375281767 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_138694.4(PKHD1):c.*1083G>T rs376414551 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_207361.6(FREM2):c.*1731A>G rs886050199 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_000337.6(SGCD):c.*3845T>C rs528838126 0.00145
NM_000553.6(WRN):c.*543C>G rs11574414 0.00145
NM_000751.3(CHRND):c.*365C>A rs112940737 0.00145
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001127671.2(LIFR):c.*6100G>A rs188682396 0.00145
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001543.5(NDST1):c.239G>A (p.Arg80His) rs145390254 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_153717.3(EVC):c.*971C>G rs13121258 0.00145
NM_000271.5(NPC1):c.-100C>G rs553740667 0.00144
NM_001012339.3(DNAJC21):c.1186-531G>A rs112971776 0.00144
NM_001098484.3(SLC4A4):c.254-200T>C rs150718042 0.00144
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) rs147499593 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_000208.4(INSR):c.*2853T>C rs186288667 0.00143
NM_001098484.3(SLC4A4):c.*1467T>G rs181712084 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225 0.00143
NM_021628.3(ALOXE3):c.2008C>T (p.Arg670Trp) rs141882639 0.00143
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_001099287.2(NIPAL4):c.*730C>T rs549237990 0.00142
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_004153.4(ORC1):c.*94C>T rs574908976 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_018972.4(GDAP1):c.*1141C>T rs566147187 0.00141
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_001044385.3(TMEM237):c.*1382C>T rs187040024 0.00140
NM_001044385.3(TMEM237):c.*3728A>G rs555315551 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_004999.4(MYO6):c.*2759C>A rs142353235 0.00140
NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr) rs148852381 0.00140
NM_014780.5(CUL7):c.861G>A (p.Gly287=) rs61750322 0.00140
NM_015294.6(TRIM37):c.-203C>A rs182346107 0.00140
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_144508.5(KNL1):c.*28A>G rs142385403 0.00140
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_001128178.3(NPHP1):c.*250C>T rs150558683 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe) rs144451000 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 0.00139
NM_080628.3(TLDC2):c.*18-435A>T rs747128919 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_001194998.2(CEP152):c.*51G>A rs531632293 0.00138
NM_001366722.1(GRIP1):c.-165A>C rs566069611 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) rs199929590 0.00138
NM_018718.3(CEP41):c.*2389G>A rs73152867 0.00138
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00138
NM_178170.3(NEK8):c.*156G>A rs186791558 0.00138
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_001256317.3(TMPRSS3):c.*492C>T rs115398434 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_002473.6(MYH9):c.*1204A>T rs56360445 0.00137
NM_002906.4(RDX):c.*1313G>C rs189484152 0.00137
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys) rs184903112 0.00137
NM_138694.4(PKHD1):c.*1597G>A rs116233809 0.00137
NM_170784.3(MKKS):c.-159A>G rs566532177 0.00137
NM_000243.3(MEFV):c.1610+10G>T rs11466033 0.00136
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=) rs138627775 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_001195794.1(CLRN1):c.-91C>T rs73155722 0.00135
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591 0.00135
NM_003701.4(TNFSF11):c.*788T>C rs200189539 0.00135
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_006996.3(SLC19A2):c.*1246T>G rs181914254 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662 0.00135
NM_198428.3(BBS9):c.*336A>G rs578208457 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_206933.4(USH2A):c.4627+981T>A rs41277220 0.00135
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_001127649.3(PEX26):c.*1720G>A rs749348676 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001351132.2(PEX5):c.*452G>C rs185474091 0.00134
NM_002485.5(NBN):c.*1823T>C rs556606685 0.00134
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500 0.00134
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191 0.00134
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_153717.3(EVC):c.*1288T>C rs1280696850 0.00134
NM_182961.4(SYNE1):c.18574-13T>C rs148664724 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000260.4(MYO7A):c.-211A>G rs41298129 0.00133
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys) rs147058423 0.00133
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_007171.3(POMT1):c.*694G>A rs550900373 0.00133
NM_014053.4(FLVCR1):c.738+9T>C rs41296696 0.00133
NM_016042.4(EXOSC3):c.*555A>C rs188744146 0.00133
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_153704.6(TMEM67):c.*853G>A rs191740525 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_000208.4(INSR):c.*2464C>T rs181555180 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_002857.4(PEX19):c.*864C>T rs144938105 0.00132
NM_003630.3(PEX3):c.*321A>T rs1030569248 0.00132
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_016239.4(MYO15A):c.4655+11G>A rs117021471 0.00132
NM_000019.3(ACAT1):c.*553T>A rs183999318 0.00131
NM_000163.5(GHR):c.*1539G>A rs181187685 0.00131
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) rs150868783 0.00131
NM_004452.4(ESRRB):c.-211A>G rs569344628 0.00131
NM_004836.7(EIF2AK3):c.*635G>A rs180734302 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_000337.6(SGCD):c.*6065A>G rs183129118 0.00130
NM_001254.4(CDC6):c.-36T>G rs527935093 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala) rs139027440 0.00130
NM_014053.4(FLVCR1):c.*1627T>G rs529311781 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_020661.4(AICDA):c.427+4C>T rs201180477 0.00130
NM_003701.4(TNFSF11):c.-81C>A rs200647526 0.00129
NM_021252.5(RAB18):c.*3559C>T rs117041769 0.00129
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_000208.4(INSR):c.*356G>T rs1353247571 0.00128
NM_000271.5(NPC1):c.*494G>T rs201277520 0.00128
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_004999.4(MYO6):c.*303A>G rs146133231 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_005219.5(DIAPH1):c.-22G>T rs530831319 0.00128
NM_006892.4(DNMT3B):c.1996+9C>T rs143448185 0.00128
NM_014780.5(CUL7):c.1457G>A (p.Cys486Tyr) rs151021564 0.00128
NM_022098.4(XPNPEP3):c.*5106T>G rs1198807029 0.00128
NM_174878.3(CLRN1):c.*93T>C rs567265508 0.00128
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001077365.2(POMT1):c.-168G>C rs556267289 0.00127
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_002241.5(KCNJ10):c.*1435C>T rs150657925 0.00127
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286 0.00127
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_015294.6(TRIM37):c.*172C>T rs142113543 0.00126
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_025077.4(TOE1):c.52+127A>G rs567826303 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_002230.4(JUP):c.*787A>G rs551870163 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_031885.5(BBS2):c.*34A>G rs199627406 0.00125
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) rs200897149 0.00125
NM_033064.5(ATCAY):c.1053G>A (p.Glu351=) rs369876142 0.00125
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849 0.00125
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) rs200507933 0.00124
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_018451.5(CENPJ):c.*556A>C rs188324716 0.00124
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_144508.5(KNL1):c.*201A>G rs117802190 0.00123
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_207361.6(FREM2):c.*3645G>T rs191682286 0.00122
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) rs147393700 0.00121
NM_015102.5(NPHP4):c.3168C>T (p.His1056=) rs376351293 0.00121
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_207361.6(FREM2):c.*2159G>A rs74048236 0.00121
NM_000123.3(ERCC5):c.-241G>C rs4150249 0.00120
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_004525.3(LRP2):c.3100A>G (p.Lys1034Glu) rs150395163 0.00120
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752 0.00120
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00120
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_144508.5(KNL1):c.812C>G (p.Thr271Ser) rs201037775 0.00120
NM_153240.5(NPHP3):c.*1020T>C rs186828918 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_018972.4(GDAP1):c.*331C>T rs1052033443 0.00119
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_207361.6(FREM2):c.*477T>C rs73466063 0.00119
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959 0.00118
NM_001048166.1(STIL):c.*992A>G rs148103615 0.00118
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001139.3(ALOX12B):c.-48C>A rs370936922 0.00118
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln) rs201942310 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_002241.5(KCNJ10):c.*2148A>G rs75282171 0.00118
NM_004407.4(DMP1):c.*918T>G rs146337309 0.00118
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_207361.6(FREM2):c.*4437A>G rs73466068 0.00118
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000492.4(CFTR):c.3718-3630G>T rs142677818 0.00117
NM_001146079.2(CLDN14):c.-337C>G rs117804848 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_018718.3(CEP41):c.*4216C>T rs187549864 0.00117
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792 0.00116
NM_000782.5(CYP24A1):c.*1091C>T rs531896457 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_003619.4(PRSS12):c.966C>T (p.Gly322=) rs144866250 0.00116
NM_012414.4(RAB3GAP2):c.*78G>A rs773904586 0.00116
NM_182548.4(LHFPL5):c.*827G>T rs545462913 0.00116
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000543.5(SMPD1):c.*83A>G rs138499616 0.00115
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) rs536725615 0.00115
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp) rs143571375 0.00115
NM_001127671.2(LIFR):c.*320C>T rs149357204 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) rs199936876 0.00114
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys) rs190940697 0.00113
NM_022124.6(CDH23):c.1140+14T>C rs376753769 0.00113
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00112
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_002241.5(KCNJ10):c.*3853G>C rs138599071 0.00112
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_002855.5(NECTIN1):c.*3194C>T rs536746735 0.00112
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_015910.7(WDPCP):c.*446C>T rs566014787 0.00112
NM_138694.4(PKHD1):c.*308C>T rs570760306 0.00112
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001098484.3(SLC4A4):c.520C>T (p.Arg174Trp) rs149802590 0.00111
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_006208.3(ENPP1):c.313+13G>T rs748468831 0.00111
NM_012463.4(ATP6V0A2):c.*2929C>G rs145602576 0.00111
NM_013382.7(POMT2):c.*1603C>T rs139267307 0.00111
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) rs183413469 0.00111
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000441.2(SLC26A4):c.*1682C>T rs376138572 0.00110
NM_001023570.4(IQCB1):c.*218G>A rs552311575 0.00110
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_000123.4(ERCC5):c.1287T>C (p.Asp429=) rs146853061 0.00109
NM_001122769.3(LCA5):c.902G>A (p.Arg301His) rs139142572 0.00109
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_018389.5(SLC35C1):c.*647T>C rs372196593 0.00109
NM_153676.4(USH1C):c.-71T>G rs571065113 0.00109
NM_173477.5(USH1G):c.*49C>T rs199648830 0.00109
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002618.4(PEX13):c.*357T>C rs138236564 0.00108
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976 0.00108
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=) rs372846962 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_033028.5(BBS4):c.*157C>G rs149263274 0.00108
NM_139319.3(SLC17A8):c.*534T>C rs147059443 0.00108
NM_000318.3(PEX2):c.*1716A>G rs192555214 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_013382.7(POMT2):c.*2072C>T rs558857629 0.00107
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000161.3(GCH1):c.*1628A>C rs185031007 0.00106
NM_000318.3(PEX2):c.-183G>T rs568404564 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001099287.2(NIPAL4):c.335-9G>A rs200183918 0.00106
NM_001242882.2(NAXD):c.521C>T (p.Pro174Leu) rs137876156 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_003619.4(PRSS12):c.821-1G>A rs147303693 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005708.5(GPC6):c.*3571T>C rs559842905 0.00106
NM_006208.3(ENPP1):c.*1499C>T rs541116091 0.00106
NM_015261.3(NCAPD3):c.2257A>G (p.Asn753Asp) rs138551616 0.00106
NM_015341.5(NCAPH):c.1867G>A (p.Ala623Thr) rs111936698 0.00106
NM_022098.4(XPNPEP3):c.*5742A>G rs771253606 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_033064.5(ATCAY):c.-198C>G rs553381633 0.00106
NM_145309.6(LRRC51):c.150G>T (p.Leu50=) rs144139038 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001146079.2(CLDN14):c.*107G>A rs112112443 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_004999.4(MYO6):c.*3879G>A rs189646143 0.00105
NM_012188.5(FOXI1):c.822C>T (p.Gly274=) rs149203108 0.00105
NM_012414.4(RAB3GAP2):c.*391C>T rs180750746 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_001184.4(ATR):c.7041+8G>A rs201106004 0.00104
NM_002473.6(MYH9):c.*645C>G rs527539496 0.00104
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_153240.5(NPHP3):c.*852C>A rs192360684 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_000782.5(CYP24A1):c.640+15C>G rs117685582 0.00103
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr) rs11548767 0.00103
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) rs142071466 0.00103
NM_012414.4(RAB3GAP2):c.*2171A>G rs570021838 0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) rs150569450 0.00103
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) rs181546859 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000543.5(SMPD1):c.*272G>C rs528743699 0.00102
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001145809.2(MYH14):c.3825+2T>G rs893114796 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_002618.4(PEX13):c.*1961T>C rs771587917 0.00102
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_021628.3(ALOXE3):c.1626G>A (p.Glu542=) rs139454209 0.00102
NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=) rs375788413 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met) rs188020393 0.00101
NM_001127649.3(PEX26):c.*113G>A rs199653646 0.00101
NM_001127671.2(LIFR):c.*3449G>T rs147793103 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) rs373162171 0.00101
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=) rs144270260 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_018718.3(CEP41):c.*1579T>C rs554826749 0.00101
NM_022124.6(CDH23):c.-15C>A rs760922529 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_000271.5(NPC1):c.-110C>T rs373558305 0.00100
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001378615.1(CC2D2A):c.-47G>A rs778112215 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu) rs200444154 0.00100
NM_016239.4(MYO15A):c.-227G>A rs185186294 0.00100
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_176824.3(BBS7):c.*353G>A rs570995801 0.00100
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_001127649.3(PEX26):c.*133C>T rs200243782 0.00099
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_002617.4(PEX10):c.*410G>A rs886046144 0.00099
NM_004937.3(CTNS):c.*2717A>G rs567476347 0.00099
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) rs201737186 0.00099
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys) rs200292361 0.00099
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_170784.3(MKKS):c.-384C>T rs568811798 0.00099
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) rs140662460 0.00098
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe) rs148299415 0.00098
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_012233.3(RAB3GAP1):c.*1397C>T rs147177352 0.00098
NM_014363.6(SACS):c.*1108G>A rs139956143 0.00098
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) rs200543358 0.00098
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_020779.4(WDR35):c.*1006G>A rs80292673 0.00098
NM_020779.4(WDR35):c.*1668A>C rs191316348 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_024753.5(TTC21B):c.*460T>C rs537286454 0.00098
NM_144508.5(KNL1):c.3999C>T (p.Cys1333=) rs373793762 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_001098484.3(SLC4A4):c.1942G>A (p.Glu648Lys) rs145378038 0.00097
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) rs140538535 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_002485.5(NBN):c.*2188T>C rs190894937 0.00097
NM_004153.4(ORC1):c.1671C>T (p.Ala557=) rs61756137 0.00097
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_018972.4(GDAP1):c.*931A>G rs532787830 0.00097
NM_022098.4(XPNPEP3):c.*1076C>A rs150795967 0.00097
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_000208.4(INSR):c.*4712T>C rs147343062 0.00096
NM_000337.6(SGCD):c.*8356T>A rs576236693 0.00096
NM_001039958.2(MESP2):c.*182C>T rs553766281 0.00096
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_001127649.3(PEX26):c.*439C>G rs148217514 0.00096
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) rs146651237 0.00096
NM_001194998.2(CEP152):c.*5G>A rs74012133 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) rs199608505 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_015311.3(OBSL1):c.2407+11A>G rs62191613 0.00096
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val) rs201794569 0.00096
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875 0.00096
NM_018718.3(CEP41):c.*4244C>G rs544508687 0.00096
NM_021252.5(RAB18):c.*402T>C rs555933024 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) rs183328334 0.00096
NM_033064.5(ATCAY):c.1106+10A>T rs199991972 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_207361.6(FREM2):c.-251A>G rs556209580 0.00096
NM_001256317.3(TMPRSS3):c.*476C>T rs555701604 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018965.4(TREM2):c.399G>T (p.Leu133=) rs144250872 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_001038603.3(MARVELD2):c.*266T>A rs142001621 0.00094
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) rs199690309 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_015294.6(TRIM37):c.-100C>T rs978604818 0.00094
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_182548.4(LHFPL5):c.*241G>A rs115413675 0.00094
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000208.4(INSR):c.*3894G>A rs184154294 0.00093
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00093
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00093
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_006892.4(DNMT3B):c.*560C>T rs151015070 0.00093
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_024685.4(BBS10):c.*955T>C rs141408782 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_194248.3(OTOF):c.-43T>A rs201812205 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000163.5(GHR):c.*534G>C rs1018084993 0.00092
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_001098484.3(SLC4A4):c.*1077C>A rs770869850 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002855.5(NECTIN1):c.*736C>T rs561395081 0.00092
NM_002906.4(RDX):c.*1368A>C rs540576204 0.00092
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00092
NM_014028.4(OSTM1):c.*3060G>A rs563889052 0.00092
NM_014363.6(SACS):c.-331A>C rs560626127 0.00092
NM_014985.3(CEP152):c.-130C>T rs548247909 0.00092
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_001077365.2(POMT1):c.*182T>C rs535816758 0.00091
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_002473.6(MYH9):c.*474C>T rs55979529 0.00091
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=) rs151079411 0.00091
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile) rs145632647 0.00091
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_016239.4(MYO15A):c.*837T>G rs562682610 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser) rs200689785 0.00091
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val) rs201864889 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_138387.4(G6PC3):c.*97G>C rs565305947 0.00091
NM_153676.4(USH1C):c.*241C>G rs551263680 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000243.3(MEFV):c.*1008A>G rs1305464681 0.00090
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001042545.2(LTBP4):c.2436G>A (p.Val812=) rs371083223 0.00090
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_004999.4(MYO6):c.*1785A>C rs139803503 0.00090
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_015404.4(WHRN):c.-583C>T rs755158483 0.00090
NM_022098.4(XPNPEP3):c.*1876A>G rs555560884 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001 0.00089
NM_000163.5(GHR):c.273T>A (p.Thr91=) rs138491809 0.00089
NM_000553.6(WRN):c.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) rs142999683 0.00089
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00089
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn) rs139523655 0.00089
NM_005708.5(GPC6):c.1485A>T (p.Ser495=) rs140343089 0.00089
NM_012463.4(ATP6V0A2):c.*1681G>A rs575925916 0.00089
NM_012463.4(ATP6V0A2):c.*577C>T rs577796265 0.00089
NM_014028.4(OSTM1):c.*2371G>A rs865891537 0.00089
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00089
NM_021628.3(ALOXE3):c.474C>T (p.Asp158=) rs113030871 0.00089
NM_022124.6(CDH23):c.387G>A (p.Ala129=) rs201919232 0.00089
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile) rs138218829 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000019.3(ACAT1):c.-70T>A rs566741161 0.00088
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979 0.00088
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_002292.4(LAMB2):c.-112A>T rs546461860 0.00088
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) rs6147 0.00088
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_004999.4(MYO6):c.*3846G>A rs538108588 0.00088
NM_005529.7(HSPG2):c.4740+14G>A rs370407461 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu) rs141191327 0.00088
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192 0.00088
NM_018718.3(CEP41):c.*3541G>A rs376434190 0.00088
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00088
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_144508.5(KNL1):c.5522G>A (p.Arg1841His) rs201880719 0.00088
NM_147196.3(TMIE):c.*313C>T rs559640559 0.00088
NM_182548.4(LHFPL5):c.-93C>T rs540528658 0.00088
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
NM_206933.4(USH2A):c.3157+12C>T rs199853422 0.00088
NM_207361.6(FREM2):c.8671+14A>G rs182974545 0.00088
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) rs146746360 0.00087
NM_001098484.3(SLC4A4):c.*3994C>T rs144720176 0.00087
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly) rs143030450 0.00087
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_002855.5(NECTIN1):c.629G>A (p.Arg210His) rs142863092 0.00087
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00087
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_174878.3(CLRN1):c.*275A>G rs570356810 0.00087
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000271.5(NPC1):c.*94G>A rs573009552 0.00086
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001098484.3(SLC4A4):c.*3577A>G rs188350612 0.00086
NM_001127453.2(GSDME):c.*537C>T rs117584512 0.00086
NM_001131025.1(PEX5):c.*1251G>A rs538222740 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_002855.5(NECTIN1):c.*152C>A rs541555437 0.00086
NM_004937.3(CTNS):c.*1366C>G rs558637146 0.00086
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) rs143780369 0.00086
NM_015474.4(SAMHD1):c.275+8T>A rs186225001 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_022098.4(XPNPEP3):c.*2011A>G rs564396179 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_207361.6(FREM2):c.8757A>G (p.Leu2919=) rs144702001 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_004452.4(ESRRB):c.-292C>A rs143251786 0.00085
NM_004999.4(MYO6):c.*4287C>T rs73751759 0.00085
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_014363.6(SACS):c.-173C>A rs139517739 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_017433.5(MYO3A):c.177C>T (p.Asp59=) rs139958275 0.00085
NM_020247.5(COQ8A):c.*425G>T rs552968994 0.00085
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly) rs138501598 0.00085
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys) rs147238010 0.00084
NM_000337.6(SGCD):c.*4993A>C rs62382385 0.00084
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_001042472.2(ABHD12):c.-221G>A rs879795178 0.00084
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_002857.4(PEX19):c.*1069G>A rs542626903 0.00084
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln) rs142127656 0.00084
NM_004525.3(LRP2):c.987G>A (p.Ala329=) rs141751667 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_144508.5(KNL1):c.75+6A>G rs201311057 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001099287.2(NIPAL4):c.*742C>T rs528240529 0.00083
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg) rs140201636 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001384474.1(LOXHD1):c.5399+6T>C rs374607583 0.00083
NM_001384474.1(LOXHD1):c.5692+12G>A rs200518261 0.00083
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys) rs143150497 0.00083
NM_005708.5(GPC6):c.*4236G>A rs569687072 0.00083
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_013382.7(POMT2):c.*758G>A rs371632843 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018718.3(CEP41):c.*680G>A rs146622910 0.00083
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_033028.5(BBS4):c.*200C>T rs191015723 0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu) rs199767066 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_002855.5(NECTIN1):c.*1595C>A rs368193026 0.00082
NM_002855.5(NECTIN1):c.*3705G>A rs184430239 0.00082
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala) rs141924917 0.00082
NM_021252.5(RAB18):c.*956A>C rs770434733 0.00082
NM_022098.4(XPNPEP3):c.*3698G>T rs376352212 0.00082
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935 0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_001194998.2(CEP152):c.832+12G>A rs111917814 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_001384140.1(PCDH15):c.-288T>C rs566733932 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=) rs146650218 0.00081
NM_005708.5(GPC6):c.*134A>G rs187678452 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_015261.3(NCAPD3):c.2135C>T (p.Thr712Met) rs143833204 0.00081
NM_020632.3(ATP6V0A4):c.588C>T (p.Asn196=) rs144172463 0.00081
NM_020661.4(AICDA):c.*67C>T rs149095678 0.00081
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_033064.5(ATCAY):c.*3203G>A rs539627639 0.00081
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_207361.6(FREM2):c.109C>T (p.Leu37Phe) rs183560588 0.00081
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp) rs143539004 0.00080
NM_001131025.1(PEX5):c.*1259G>C rs148385560 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_002230.4(JUP):c.*98C>T rs112151379 0.00080
NM_002241.5(KCNJ10):c.*21A>G rs377019389 0.00080
NM_006208.3(ENPP1):c.522C>T (p.Gly174=) rs144882196 0.00080
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_018718.3(CEP41):c.*4908G>A rs552988501 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113 0.00080
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_207361.6(FREM2):c.690T>C (p.Tyr230=) rs115830086 0.00080
NM_000441.2(SLC26A4):c.*791A>G rs146458433 0.00079
NM_001098484.3(SLC4A4):c.687G>A (p.Lys229=) rs147651604 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_004937.3(CTNS):c.*2662G>A rs534360650 0.00079
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg) rs151128145 0.00079
NM_015272.5(RPGRIP1L):c.*1510G>A rs140374059 0.00079
NM_015404.4(WHRN):c.-305C>T rs537786676 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034 0.00079
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_000277.3(PAH):c.*699C>T rs189466448 0.00078
NM_000277.3(PAH):c.*735T>C rs185081299 0.00078
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_001042702.5(PJVK):c.766+8T>C rs185220846 0.00078
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00078
NM_001127649.3(PEX26):c.*1922C>T rs181819830 0.00078
NM_001146079.2(CLDN14):c.-390G>A rs150344346 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) rs533944505 0.00078
NM_002241.5(KCNJ10):c.*362A>T rs528816212 0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu) rs139491074 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) rs202073376 0.00078
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018972.4(GDAP1):c.*751A>G rs544136357 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446 0.00078
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_203486.3(DLL3):c.652+15C>T rs528327447 0.00078
NM_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_000124.4(ERCC6):c.*813C>T rs181327678 0.00077
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001042702.5(PJVK):c.-73C>T rs573551830 0.00077
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) rs137991779 0.00077
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034 0.00077
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_018136.5(ASPM):c.9985-72G>A rs538986451 0.00077
NM_018699.3(PRDM5):c.-234C>T rs111704622 0.00077
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_025074.7(FRAS1):c.*2490G>A rs186193838 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_178170.3(NEK8):c.*344C>T rs537387525 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00076
NM_001256317.3(TMPRSS3):c.*539C>T rs540533831 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248 0.00076
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_006005.3(WFS1):c.*448A>T rs113513950 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_006892.4(DNMT3B):c.922-8C>T rs200508870 0.00076
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) rs375870998 0.00076
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg) rs185058802 0.00076
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00076
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile) rs141670485 0.00076
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) rs143029477 0.00075
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
NM_000329.3(RPE65):c.1244-5C>T rs202185816 0.00074
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000553.6(WRN):c.3059G>A (p.Arg1020His) rs115298665 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001127649.3(PEX26):c.*2195A>G rs565621911 0.00074
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00074
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys) rs186811333 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_138694.4(PKHD1):c.5752-9G>A rs184441390 0.00074
NM_148919.4(PSMB8):c.*8G>A rs376750959 0.00074
NM_207361.6(FREM2):c.*5615_*5616insG rs886050216 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn) rs200227733 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln) rs374728484 0.00073
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala) rs146488112 0.00073
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) rs201028204 0.00073
NM_018249.6(CDK5RAP2):c.3034C>G (p.Pro1012Ala) rs141496431 0.00073
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_018972.4(GDAP1):c.*1430T>A rs538689570 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) rs201675499 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_033028.5(BBS4):c.-14T>A rs146238636 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_207361.6(FREM2):c.*3278C>T rs531852928 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_000271.5(NPC1):c.*202C>T rs535059744 0.00072
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_000553.6(WRN):c.1027G>A (p.Glu343Lys) rs11574222 0.00072
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) rs141744967 0.00072
NM_002241.5(KCNJ10):c.*1789G>A rs542638955 0.00072
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) rs148713374 0.00072
NM_004937.3(CTNS):c.*1899G>A rs563849197 0.00072
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_006642.5(SDCCAG8):c.-130C>A rs547776191 0.00072
NM_017433.5(MYO3A):c.546G>T (p.Arg182=) rs148349532 0.00072
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_018699.3(PRDM5):c.-172C>T rs558723351 0.00072
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) rs148105529 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_000208.4(INSR):c.*2255T>G rs547131375 0.00071
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) rs199875504 0.00071
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His) rs144891748 0.00071
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_003332.4(TYROBP):c.*85C>T rs374144427 0.00071
NM_004937.3(CTNS):c.*2593A>T rs549150113 0.00071
NM_004999.4(MYO6):c.*1522C>T rs149257535 0.00071
NM_006208.3(ENPP1):c.*3718C>T rs867805924 0.00071
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys) rs35846833 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00071
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984 0.00070
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001379180.1(ESRRB):c.*1527C>T rs370162922 0.00070
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706 0.00070
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_002906.4(RDX):c.*2006A>G rs538806036 0.00070
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) rs886054082 0.00070
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004407.4(DMP1):c.312C>T (p.Asp104=) rs148543792 0.00070
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_014053.4(FLVCR1):c.*1454G>A rs565177366 0.00070
NM_015102.5(NPHP4):c.-90A>T rs527962872 0.00070
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) rs146228268 0.00070
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_170784.3(MKKS):c.699C>G (p.Ile233Met) rs770801103 0.00070
NM_198428.3(BBS9):c.-397G>A rs561901329 0.00070
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_000329.3(RPE65):c.496-4G>A rs138146176 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000543.5(SMPD1):c.1340+12A>T rs140221837 0.00069
NM_001042545.2(LTBP4):c.1825A>G (p.Thr609Ala) rs201279198 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001366722.1(GRIP1):c.-158G>A rs559798312 0.00069
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_002906.3(RDX):c.-272A>T rs998609007 0.00069
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg) rs149603030 0.00069
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu) rs73035708 0.00069
NM_006019.4(TCIRG1):c.1887+131G>A rs78820476 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=) rs146832858 0.00069
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_018063.5(HELLS):c.1258C>G (p.Leu420Val) rs146569050 0.00069
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_152618.3(BBS12):c.*185T>C rs545226235 0.00069
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) rs147371835 0.00069
NM_207361.6(FREM2):c.*1203G>C rs866103451 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001080414.4(CCDC88C):c.4768+6T>C rs183312399 0.00068
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384 0.00068
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017 0.00068
NM_004560.4(ROR2):c.*553G>A rs769673512 0.00068
NM_004999.4(MYO6):c.*3829T>C rs62414825 0.00068
NM_004999.4(MYO6):c.*4032G>A rs373146837 0.00068
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_012210.4(TRIM32):c.*84A>C rs571526516 0.00068
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
NM_014053.4(FLVCR1):c.*32T>C rs374779364 0.00068
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798 0.00068
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896 0.00068
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_016938.5(EFEMP2):c.*282C>T rs572394429 0.00068
NM_018075.5(ANO10):c.1914+3G>A rs113187031 0.00068
NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met) rs150215024 0.00068
NM_020779.4(WDR35):c.*2620G>A rs545271105 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_182548.4(LHFPL5):c.*421T>C rs147190285 0.00068
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000370.3(TTPA):c.*776C>T rs886063063 0.00067
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys) rs11574250 0.00067
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) rs143346057 0.00067
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys) rs146796158 0.00067
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_001042702.5(PJVK):c.-234C>T rs555344314 0.00067
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590 0.00067
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001184.4(ATR):c.4153-15T>G rs375938610 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_014425.5(INVS):c.2454G>A (p.Ala818=) rs115937161 0.00067
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_018389.4(SLC35C1):c.-657C>A rs550333679 0.00067
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025216.3(WNT10A):c.-123C>A rs928677784 0.00067
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_173477.5(USH1G):c.*279G>T rs886053387 0.00067
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_000441.2(SLC26A4):c.*1836C>T rs565613619 0.00066
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00066
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_001099287.2(NIPAL4):c.193C>T (p.Leu65=) rs374829524 0.00066
NM_001127671.2(LIFR):c.*4405G>C rs191397058 0.00066
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) rs562249191 0.00066
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) rs186972955 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_002241.5(KCNJ10):c.*3130C>A rs558975322 0.00066
NM_002241.5(KCNJ10):c.*3737A>G rs535970310 0.00066
NM_002241.5(KCNJ10):c.*3919G>A rs141118901 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_002855.5(NECTIN1):c.*1120T>A rs570248260 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro) rs61756136 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_015102.5(NPHP4):c.4141-11C>T rs139203183 0.00066
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_020631.6(PLEKHG5):c.*285C>T rs572888702 0.00066
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_022098.4(XPNPEP3):c.*4614A>G rs560735914 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_033064.5(ATCAY):c.*2282C>T rs759377240 0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) rs201853975 0.00066
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) rs188085072 0.00066
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) rs141213887 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001351132.2(PEX5):c.-53T>C rs770339670 0.00065
NM_001367624.2(ZNF469):c.*1071A>T rs536887736 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_004153.4(ORC1):c.2580C>T (p.Asp860=) rs61756139 0.00065
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=) rs141068435 0.00065
NM_012210.4(TRIM32):c.*229C>T rs770788386 0.00065
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160 0.00065
NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) rs187769000 0.00065
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) rs144802156 0.00065
NM_144508.5(KNL1):c.1523T>A (p.Ile508Lys) rs199699274 0.00065
NM_145702.4(TIGD1):c.*2184A>G rs147814126 0.00065
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043 0.00064
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser) rs148838377 0.00064
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met) rs149806586 0.00064
NM_001017420.3(ESCO2):c.-38C>G rs541613867 0.00064
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001379180.1(ESRRB):c.1207C>T (p.Arg403Cys) rs373131497 0.00064
NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met) rs554863155 0.00064
NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr) rs536112369 0.00064
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) rs143917509 0.00064
NM_003193.5(TBCE):c.737+11C>T rs181223923 0.00064
NM_004100.5(EYA4):c.*1744G>A rs542230437 0.00064
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183 0.00064
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys) rs146271483 0.00064
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00064
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) rs751906696 0.00064
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_024596.5(MCPH1):c.*285G>A rs182479249 0.00064
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_032193.4(RNASEH2C):c.*1594G>A rs761492773 0.00064
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00064
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) rs117962829 0.00064
NM_206933.4(USH2A):c.4627+801C>G rs41277222 0.00064
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519 0.00063
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_000320.3(QDPR):c.600C>G (p.Ser200Arg) rs112242659 0.00063
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417 0.00063
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_001379286.1(ZNF423):c.1168T>C (p.Ser390Pro) rs142835239 0.00063
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_002618.4(PEX13):c.*216T>C rs146980377 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met) rs145201961 0.00063
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_006208.3(ENPP1):c.*1239T>C rs1251519009 0.00063
NM_006892.4(DNMT3B):c.433-13C>T rs182618840 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) rs199740747 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515 0.00063
NM_016464.5(TMEM138):c.*228C>G rs536120944 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00063
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395 0.00063
NM_173551.5(ANKS6):c.565C>G (p.Pro189Ala) rs199653685 0.00063
NM_178170.3(NEK8):c.*575A>C rs922057276 0.00063
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met) rs138477887 0.00063
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) rs144549494 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628 0.00062
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_004525.3(LRP2):c.11264-14C>G rs377424162 0.00062
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.7954G>A (p.Val2652Met) rs190732238 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_015294.6(TRIM37):c.*381T>C rs886053173 0.00062
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_016239.4(MYO15A):c.5532-10C>T rs200169924 0.00062
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00062
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_018972.4(GDAP1):c.*2210C>T rs571939530 0.00062
NM_020632.3(ATP6V0A4):c.-29G>A rs145258624 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_032119.4(ADGRV1):c.1131T>G (p.Ser377=) rs200435877 0.00062
NM_182548.4(LHFPL5):c.*417T>C rs149067362 0.00062
NM_000441.2(SLC26A4):c.*69C>A rs76894072 0.00061
NM_000492.4(CFTR):c.3717+5793G>T rs567468206 0.00061
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala) rs201002566 0.00061
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) rs369748157 0.00061
NM_001164375.3(C10orf105):c.*3111C>T rs187975106 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001323311.2(PURG):c.-280C>G rs578121063 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_004407.4(DMP1):c.*373T>A rs183996325 0.00061
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) rs139819099 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_006208.3(ENPP1):c.*2564A>G rs534823686 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_018075.5(ANO10):c.*91G>A rs776954907 0.00061
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) rs147100928 0.00061
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys) rs144843064 0.00061
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_033064.5(ATCAY):c.36C>T (p.Asn12=) rs368213837 0.00061
NM_138691.3(TMC1):c.*93C>T rs184207177 0.00061
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_153240.5(NPHP3):c.*141T>C rs538987591 0.00061
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_153717.3(EVC):c.*263T>C rs575488876 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_001194998.2(CEP152):c.3355G>A (p.Ala1119Thr) rs61745204 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001379286.1(ZNF423):c.3304G>A (p.Gly1102Ser) rs139931382 0.00060
NM_002855.5(NECTIN1):c.*296T>C rs769907939 0.00060
NM_003193.5(TBCE):c.945C>T (p.Asn315=) rs138014826 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val) rs201343662 0.00060
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_021628.3(ALOXE3):c.1503G>C (p.Leu501=) rs145838099 0.00060
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_033064.5(ATCAY):c.*1427A>T rs536842684 0.00060
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_153240.5(NPHP3):c.*519C>T rs3891704 0.00060
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) rs34291397 0.00059
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001098484.3(SLC4A4):c.2674T>C (p.Phe892Leu) rs138942006 0.00059
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001282426.2(PIK3CG):c.1076G>A (p.Arg359His) rs144565710 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_002241.5(KCNJ10):c.*2001T>C rs1000595958 0.00059
NM_002241.5(KCNJ10):c.*2827C>T rs183270733 0.00059
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=) rs146113849 0.00059
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_006208.3(ENPP1):c.313+10T>G rs202225018 0.00059
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_014028.4(OSTM1):c.*2317A>C rs527256747 0.00059
NM_016464.5(TMEM138):c.461G>A (p.Arg154His) rs147966742 0.00059
NM_017791.3(FLVCR2):c.*18C>T rs369026585 0.00059
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393 0.00059
NM_018718.3(CEP41):c.*1646G>A rs187513408 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=) rs149802708 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00058
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=) rs376892582 0.00058
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile) rs147940796 0.00058
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045 0.00058
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=) rs147493796 0.00058
NM_001099287.2(NIPAL4):c.*1130C>T rs574842707 0.00058
NM_001127649.3(PEX26):c.*2449C>T rs140919342 0.00058
NM_001127671.2(LIFR):c.*1779A>G rs533737306 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_001379180.1(ESRRB):c.765G>A (p.Glu255=) rs79273904 0.00058
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_002855.5(NECTIN1):c.423G>A (p.Thr141=) rs142753103 0.00058
NM_003630.3(PEX3):c.*129C>T rs41285017 0.00058
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_005522.5(HOXA1):c.207C>T (p.His69=) rs577426612 0.00058
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met) rs141474168 0.00058
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) rs200884153 0.00058
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile) rs35094617 0.00058
NM_018451.5(CENPJ):c.1409C>T (p.Pro470Leu) rs142535552 0.00058
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_022098.4(XPNPEP3):c.*1265C>T rs548264406 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00057
NM_000281.4(PCBD1):c.-27C>G rs573430589 0.00057
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000337.6(SGCD):c.*4608G>A rs541428502 0.00057
NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=) rs374862225 0.00057
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001127671.2(LIFR):c.*2042A>G rs551424232 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001195248.2(APTX):c.134-12A>C rs113391831 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser) rs140583017 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378615.1(CC2D2A):c.*45G>C rs372449768 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351 0.00057
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys) rs140623763 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00057
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) rs145078518 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_016239.4(MYO15A):c.8895C>T (p.Arg2965=) rs200926400 0.00057
NM_018451.5(CENPJ):c.*779A>T rs183612636 0.00057
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) rs115398922 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_201384.3(PLEC):c.10565C>T (p.Thr3522Met) rs375095764 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000124.4(ERCC6):c.*1112G>A rs186262133 0.00056
NM_000124.4(ERCC6):c.1992+7C>T rs373710355 0.00056
NM_000211.5(ITGB2):c.1358G>A (p.Ser453Asn) rs138659490 0.00056
NM_000243.3(MEFV):c.*724G>A rs886051968 0.00056
NM_000286.3(PEX12):c.-427G>A rs531286605 0.00056
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_000337.6(SGCD):c.*6833G>A rs137998497 0.00056
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000441.2(SLC26A4):c.*523A>G rs560536749 0.00056
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000506.5(F2):c.1541A>G (p.Asn514Ser) rs144011338 0.00056
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975 0.00056
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.40634-9A>G rs373511249 0.00056
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) rs201567815 0.00056
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) rs199891245 0.00056
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) rs777199366 0.00056
NM_001351132.2(PEX5):c.*110G>A rs775495288 0.00056
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_002855.5(NECTIN1):c.*3545C>G rs569437093 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004153.4(ORC1):c.1581A>G (p.Gly527=) rs141066689 0.00056
NM_004407.4(DMP1):c.1023C>T (p.Ser341=) rs140807822 0.00056
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val) rs149853330 0.00056
NM_004560.4(ROR2):c.1716G>A (p.Ser572=) rs139654946 0.00056
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020632.3(ATP6V0A4):c.2140-9G>A rs201174170 0.00056
NM_021628.3(ALOXE3):c.1305+12C>G rs754304050 0.00056
NM_022482.5(GZF1):c.491G>A (p.Arg164Lys) rs139704196 0.00056
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_032119.4(ADGRV1):c.4128C>T (p.Asp1376=) rs373730163 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_032575.3(GLIS2):c.*2C>T rs144489623 0.00056
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_153240.4(NPHP3):c.-70C>T rs886058006 0.00056
NM_153704.6(TMEM67):c.*690T>A rs535033320 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_198428.3(BBS9):c.*589G>A rs548920550 0.00056
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.4627+411A>G rs772732997 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000506.5(F2):c.1464G>A (p.Thr488=) rs146742525 0.00055
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_004813.4(PEX16):c.*175C>A rs375099703 0.00055
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) rs143010678 0.00055
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) rs376818200 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His) rs201420492 0.00055
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00055
NM_147196.3(TMIE):c.*253G>A rs577029568 0.00055
NM_153717.3(EVC):c.*1592C>T rs193184679 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_207361.6(FREM2):c.*5920C>T rs550443498 0.00055
NM_000124.4(ERCC6):c.*1933A>G rs748783305 0.00054
NM_000243.3(MEFV):c.*1002G>C rs1316887692 0.00054
NM_000260.4(MYO7A):c.-154G>A rs545774605 0.00054
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001393500.2(TOMT):c.*437T>C rs766985557 0.00054
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
NM_012188.5(FOXI1):c.*576T>A rs550861326 0.00054
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900 0.00054
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_016239.4(MYO15A):c.7473+10G>T rs181355572 0.00054
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_018451.5(CENPJ):c.1410G>A (p.Pro470=) rs115628561 0.00054
NM_022098.4(XPNPEP3):c.*2536C>G rs747423050 0.00054
NM_022124.6(CDH23):c.5821-13C>T rs117317626 0.00054
NM_022336.4(EDAR):c.-238C>T rs529174103 0.00054
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala) rs148526209 0.00054
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser) rs201277074 0.00054
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) rs200176196 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg) rs115455005 0.00054
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_201378.4(PLEC):c.71-11866G>A rs199505812 0.00054
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) rs201569045 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000070.3(CAPN3):c.2380+19C>T rs141234995 0.00053
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001384474.1(LOXHD1):c.5693-8C>A rs544020946 0.00053
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002617.4(PEX10):c.*854G>A rs556816263 0.00053
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00053
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_005529.7(HSPG2):c.7956G>A (p.Val2652=) rs145265774 0.00053
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006892.4(DNMT3B):c.143-8C>T rs200349528 0.00053
NM_012188.5(FOXI1):c.*986G>C rs111876035 0.00053
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr) rs865818494 0.00053
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) rs143458938 0.00053
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met) rs141049110 0.00053
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_032193.4(RNASEH2C):c.*456G>A rs561937926 0.00053
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00053
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile) rs367870902 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn) rs200540800 0.00053
NM_000124.4(ERCC6):c.*4019A>G rs569564278 0.00052
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00052
NM_000208.4(INSR):c.*2149C>T rs886054670 0.00052
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000318.3(PEX2):c.*2057G>A rs568202276 0.00052
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00052
NM_001042472.3(ABHD12):c.*331G>A rs927058842 0.00052
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met) rs200057861 0.00052
NM_002241.5(KCNJ10):c.*3506C>T rs79012831 0.00052
NM_002617.4(PEX10):c.*10C>T rs367845280 0.00052
NM_002860.4(ALDH18A1):c.*698G>A rs557388312 0.00052
NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) rs201652399 0.00052
NM_004100.5(EYA4):c.*1770T>C rs765287346 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242 0.00052
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) rs199676595 0.00052
NM_021252.5(RAB18):c.*3167G>A rs546186493 0.00052
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_177976.3(ARL6):c.-375C>T rs536935620 0.00052
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_000070.3(CAPN3):c.*202A>G rs886051150 0.00051
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_000271.4(NPC1):c.-272A>C rs540866381 0.00051
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000492.4(CFTR):c.*94C>T rs144214399 0.00051
NM_000506.5(F2):c.191C>T (p.Thr64Met) rs142001812 0.00051
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_001044385.3(TMEM237):c.*1655G>A rs1020619947 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_002855.5(NECTIN1):c.*3636G>A rs981570094 0.00051
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr) rs148530934 0.00051
NM_004813.2(PEX16):c.-184A>G rs745333570 0.00051
NM_004999.4(MYO6):c.*1232C>T rs182487428 0.00051
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_006005.3(WFS1):c.*520G>A rs573433508 0.00051
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00051
NM_018319.4(TDP1):c.*945C>T rs540904390 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) rs79385822 0.00051
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_024570.4(RNASEH2B):c.-228C>A rs577725827 0.00051
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_201384.3(PLEC):c.10462G>A (p.Ala3488Thr) rs201390770 0.00051
NM_201384.3(PLEC):c.11539G>A (p.Val3847Met) rs201654895 0.00051
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_207361.6(FREM2):c.*4731G>A rs554764998 0.00051
NM_207361.6(FREM2):c.4991C>T (p.Ala1664Val) rs149779771 0.00051
NM_000124.4(ERCC6):c.-15+11G>A rs766986601 0.00050
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=) rs139019420 0.00050
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302 0.00050
NM_000231.3(SGCG):c.*53C>A rs188804783 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) rs146014368 0.00050
NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr) rs377539902 0.00050
NM_016239.4(MYO15A):c.393C>G (p.Ser131=) rs750022100 0.00050
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln) rs200151675 0.00050
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_022124.6(CDH23):c.9335T>C (p.Ile3112Thr) rs201359237 0.00050
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) rs77601278 0.00050
NM_033028.5(BBS4):c.*36G>A rs376830638 0.00050
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_153240.5(NPHP3):c.*437C>T rs539230132 0.00050
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911 0.00050
NM_207361.6(FREM2):c.*6183C>T rs113097228 0.00050
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001194998.2(CEP152):c.996T>C (p.Thr332=) rs199873069 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880 0.00049
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=) rs764487066 0.00049
NM_001379286.1(ZNF423):c.2006A>C (p.Lys669Thr) rs145272522 0.00049
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_002180.3(IGHMBP2):c.*6C>T rs117995705 0.00049
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.7158+11G>A rs374680668 0.00049
NM_012210.4(TRIM32):c.-109T>C rs886063378 0.00049
NM_014918.5(CHSY1):c.698G>A (p.Arg233Gln) rs146924321 0.00049
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_153717.3(EVC):c.*709T>C rs183727253 0.00049
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu) rs201685731 0.00049
NM_182961.4(SYNE1):c.*191A>G rs567194577 0.00049
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_182961.4(SYNE1):c.4461+15C>T rs757969745 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_201384.3(PLEC):c.5213G>A (p.Arg1738Gln) rs577419493 0.00049
NM_201384.3(PLEC):c.7192C>T (p.Arg2398Cys) rs200880699 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448 0.00048
NM_000124.4(ERCC6):c.*1279T>A rs189942338 0.00048
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000211.5(ITGB2):c.1413-8G>A rs375743879 0.00048
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_000329.3(RPE65):c.*588C>A rs541546843 0.00048
NM_000782.5(CYP24A1):c.*748G>A rs371011704 0.00048
NM_001099287.2(NIPAL4):c.*1603A>C rs555052598 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) rs61745095 0.00048
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=) rs144401814 0.00048
NM_001366722.1(GRIP1):c.*617G>A rs554240061 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001384140.1(PCDH15):c.-180C>T rs375866561 0.00048
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004560.4(ROR2):c.*369G>C rs555728388 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006019.4(TCIRG1):c.*67C>T rs570860062 0.00048
NM_014336.4(AIPL1):c.-52G>T rs377376064 0.00048
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) rs114942117 0.00048
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) rs116188920 0.00048
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr) rs201876836 0.00048
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151 0.00048
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_021628.3(ALOXE3):c.1871C>T (p.Thr624Ile) rs146280032 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_022124.6(CDH23):c.2745C>T (p.Ile915=) rs183220886 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) rs200056545 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_032575.3(GLIS2):c.*437A>C rs533863589 0.00048
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys) rs145499180 0.00048
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_153717.3(EVC):c.*3161A>C rs550678702 0.00048
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) rs199722684 0.00048
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu) rs141599330 0.00048
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) rs199833127 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000320.3(QDPR):c.148G>A (p.Ala50Thr) rs143937910 0.00047
NM_001040167.2(LFNG):c.482-3C>T rs199745512 0.00047
NM_001127671.2(LIFR):c.*4024G>A rs140501581 0.00047
NM_001146079.2(CLDN14):c.-76C>T rs557122405 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His) rs142678284 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002618.4(PEX13):c.*1649C>T rs1042646135 0.00047
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=) rs139514301 0.00047
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
NM_014028.4(OSTM1):c.*168T>G rs571193624 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_018718.3(CEP41):c.*1981G>A rs538682192 0.00047
NM_022124.6(CDH23):c.9606C>A (p.Gly3202=) rs193244823 0.00047
NM_022336.4(EDAR):c.*625C>A rs781048595 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_182548.4(LHFPL5):c.*429C>T rs1283607110 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_207361.6(FREM2):c.8918A>G (p.Lys2973Arg) rs147506207 0.00047
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082 0.00046
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00046
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000337.6(SGCD):c.*5591G>A rs746078886 0.00046
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_001127649.3(PEX26):c.*2807_*2808del rs754613851 0.00046
NM_001127649.3(PEX26):c.*2810G>C rs781588186 0.00046
NM_001127649.3(PEX26):c.667+8A>G rs200880379 0.00046
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) rs201272728 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_002618.4(PEX13):c.*1998T>C rs559684247 0.00046
NM_004373.4(COX6A1):c.160A>G (p.Met54Val) rs61739965 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys) rs142406504 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) rs201826872 0.00046
NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu) rs141844033 0.00046
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299 0.00046
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr) rs181731943 0.00046
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg) rs145909403 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_147196.3(TMIE):c.*612C>T rs747060976 0.00046
NM_147196.3(TMIE):c.*767G>A rs557803959 0.00046
NM_153240.5(NPHP3):c.*1121A>G rs576904017 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00046
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00046
NM_201384.3(PLEC):c.2063C>T (p.Pro688Leu) rs377358791 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg) rs139297205 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00046
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00045
NM_000441.2(SLC26A4):c.*618A>G rs886061888 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000553.6(WRN):c.3738G>A (p.Leu1246=) rs147117969 0.00045
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_001044385.3(TMEM237):c.*2960C>A rs188637429 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001080476.3(GRXCR1):c.*65A>G rs531527331 0.00045
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001127671.2(LIFR):c.*4414G>A rs542094343 0.00045
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) rs372419267 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr) rs557997233 0.00045
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val) rs142631483 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00045
NM_004525.3(LRP2):c.7007G>A (p.Arg2336Gln) rs147287428 0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=) rs145179638 0.00045
NM_004999.4(MYO6):c.*511G>A rs753019749 0.00045
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) rs143847495 0.00045
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303 0.00045
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=) rs200695102 0.00045
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020661.4(AICDA):c.*1213A>G rs751259274 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala) rs74535389 0.00045
NM_021252.5(RAB18):c.*1895G>C rs746613469 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_024685.4(BBS10):c.*106C>T rs886049847 0.00045
NM_025074.7(FRAS1):c.4364C>T (p.Ala1455Val) rs201693179 0.00045
NM_025114.3(CEP290):c.-235T>G rs569632834 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043 0.00045
NM_207361.6(FREM2):c.*1597A>G rs886050197 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000208.4(INSR):c.*1967G>A rs886054672 0.00044
NM_000208.4(INSR):c.*499G>T rs1173572474 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001386140.1(MTTP):c.502-12C>T rs200628118 0.00044
NM_002485.5(NBN):c.*504A>G rs3780123 0.00044
NM_002857.4(PEX19):c.*1335G>T rs748536788 0.00044
NM_002906.4(RDX):c.*2085A>C rs747342832 0.00044
NM_003383.5(VLDLR):c.-122T>C rs886063802 0.00044
NM_003504.5(CDC45):c.1525A>G (p.Ile509Val) rs144764074 0.00044
NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val) rs140019292 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004525.3(LRP2):c.2320+9G>A rs368933798 0.00044
NM_004937.3(CTNS):c.*2082C>T rs182280281 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_005708.5(GPC6):c.*1188T>C rs577982355 0.00044
NM_005982.4(SIX1):c.*1232T>C rs558532789 0.00044
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=) rs147402935 0.00044
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803 0.00044
NM_014780.5(CUL7):c.4074A>T (p.Glu1358Asp) rs146346558 0.00044
NM_016122.3(CEP83):c.76G>A (p.Gly26Ser) rs199871798 0.00044
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_017755.6(NSUN2):c.258C>T (p.His86=) rs141912087 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_020458.4(TTC7A):c.517+3A>G rs201376278 0.00044
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) rs202101019 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_153717.3(EVC):c.*1069A>G rs13147953 0.00044
NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu) rs142726001 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000208.4(INSR):c.*2136T>A rs886054671 0.00043
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002617.4(PEX10):c.627G>A (p.Glu209=) rs141430704 0.00043
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490 0.00043
NM_004100.5(EYA4):c.*3211T>G rs140619740 0.00043
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg) rs144848215 0.00043
NM_004407.4(DMP1):c.1356C>T (p.Asp452=) rs149026481 0.00043
NM_004407.4(DMP1):c.1433A>C (p.Asp478Ala) rs148156611 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_004744.5(LRAT):c.*640T>C rs574458445 0.00043
NM_004937.3(CTNS):c.853-15G>A rs376050426 0.00043
NM_004999.4(MYO6):c.*1847A>G rs886061770 0.00043
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_005982.4(SIX1):c.*766T>A rs63554860 0.00043
NM_006892.4(DNMT3B):c.*113G>A rs563626929 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile) rs142270656 0.00043
NM_016004.5(IFT52):c.157G>A (p.Val53Met) rs137979762 0.00043
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00043
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg) rs138157153 0.00043
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_021252.5(RAB18):c.*1779A>T rs544225499 0.00043
NM_021252.5(RAB18):c.*946G>T rs561667494 0.00043
NM_022124.6(CDH23):c.*76G>A rs545047958 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=) rs200721645 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_025074.7(FRAS1):c.8443+8A>G rs373820698 0.00043
NM_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) rs146481462 0.00043
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070 0.00042
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala) rs140967031 0.00042
NM_001042702.5(PJVK):c.*2A>C rs200811582 0.00042
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val) rs144606459 0.00042
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) rs61751711 0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser) rs138350940 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr) rs762460746 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2652+4C>T rs374540895 0.00042
NM_001353108.3(CEP63):c.1657A>G (p.Lys553Glu) rs149856006 0.00042
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00042
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_004525.3(LRP2):c.12989-14C>T rs201558127 0.00042
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_014321.4(ORC6):c.*640G>A rs368055096 0.00042
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu) rs138384561 0.00042
NM_015102.5(NPHP4):c.2531C>T (p.Pro844Leu) rs186014615 0.00042
NM_015102.5(NPHP4):c.3899G>A (p.Ser1300Asn) rs115869141 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138 0.00042
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=) rs149189607 0.00042
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_017433.5(MYO3A):c.*233C>T rs569425203 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_018249.6(CDK5RAP2):c.2939C>T (p.Thr980Ile) rs145948550 0.00042
NM_018718.3(CEP41):c.*3097T>C rs929238589 0.00042
NM_020751.3(COG6):c.*1532T>G rs61954232 0.00042
NM_022336.4(EDAR):c.*1108G>A rs564052014 0.00042
NM_024685.4(BBS10):c.*947G>T rs533206499 0.00042
NM_025074.7(FRAS1):c.*1444T>C rs569011445 0.00042
NM_025074.7(FRAS1):c.*374C>T rs560026397 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00042
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109 0.00041
NM_000287.4(PEX6):c.1234-11A>G rs201879957 0.00041
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_000492.3(CFTR):c.-448A>G rs943663200 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000492.4(CFTR):c.3873+2194A>G rs575989053 0.00041
NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg) rs146404747 0.00041
NM_000782.5(CYP24A1):c.735G>A (p.Met245Ile) rs114930663 0.00041
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_001044385.3(TMEM237):c.*2141C>T rs147652455 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001143985.1(BANF1):c.-230C>T rs781260209 0.00041
NM_001160372.4(TRAPPC9):c.2557-14T>A rs757482428 0.00041
NM_001161403.3(LIMS2):c.12-6748A>G rs968524490 0.00041
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542 0.00041
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) rs551740936 0.00041
NM_001256317.3(TMPRSS3):c.*477G>A rs537211737 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001351132.2(PEX5):c.*1134T>A rs769928491 0.00041
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001379286.1(ZNF423):c.1874G>A (p.Arg625Gln) rs141893384 0.00041
NM_001379286.1(ZNF423):c.2312C>T (p.Ala771Val) rs150234048 0.00041
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.6731C>T (p.Thr2244Ile) rs561740845 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg) rs145467994 0.00041
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) rs138457635 0.00041
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_002855.5(NECTIN1):c.*1555C>T rs1023855669 0.00041
NM_002855.5(NECTIN1):c.565T>C (p.Leu189=) rs140389200 0.00041
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_002906.4(RDX):c.*1961G>A rs746061486 0.00041
NM_004100.5(EYA4):c.*2269C>T rs533609774 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile) rs150904526 0.00041
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile) rs150382715 0.00041
NM_004836.7(EIF2AK3):c.*363_*364del rs533135276 0.00041
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr) rs150008398 0.00041
NM_006846.4(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491 0.00041
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) rs150148922 0.00041
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_014028.4(OSTM1):c.933A>G (p.Lys311=) rs146289365 0.00041
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_015102.5(NPHP4):c.1850C>T (p.Ala617Val) rs190522911 0.00041
NM_015294.6(TRIM37):c.*344G>A rs886053174 0.00041
NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) rs147639509 0.00041
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=) rs373935449 0.00041
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_017433.5(MYO3A):c.113T>C (p.Val38Ala) rs144518447 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_017755.6(NSUN2):c.1226+4A>T rs202085420 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=) rs144859183 0.00041
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_020964.3(EPG5):c.3898G>A (p.Val1300Ile) rs201495638 0.00041
NM_020964.3(EPG5):c.5680A>G (p.Ile1894Val) rs138221907 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=) rs376458338 0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_144508.5(KNL1):c.6416-13T>G rs370035611 0.00041
NM_153704.6(TMEM67):c.*941T>C rs112317911 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_174878.3(CLRN1):c.*115G>A rs182501934 0.00041
NM_176824.3(BBS7):c.*1526C>T rs546122158 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_198428.3(BBS9):c.*29A>G rs373446119 0.00041
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe) rs190937193 0.00041
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr) rs144120866 0.00040
NM_001139.3(ALOX12B):c.-141C>T rs960349510 0.00040
NM_001254.4(CDC6):c.897G>A (p.Thr299=) rs193186571 0.00040
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) rs534339525 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_002241.5(KCNJ10):c.*2490G>A rs190897143 0.00040
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_002618.4(PEX13):c.*263A>T rs558525565 0.00040
NM_003619.4(PRSS12):c.*920G>C rs567789007 0.00040
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_005522.5(HOXA1):c.194A>C (p.His65Pro) rs146782650 0.00040
NM_006996.3(SLC19A2):c.*51C>G rs376279404 0.00040
NM_012210.4(TRIM32):c.-124G>A rs752864284 0.00040
NM_014053.4(FLVCR1):c.*1954A>G rs567288372 0.00040
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) rs192570479 0.00040
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg) rs147457270 0.00040
NM_018718.3(CEP41):c.*1385T>G rs781845516 0.00040
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_025216.3(WNT10A):c.*108G>A rs190527122 0.00040
NM_032193.4(RNASEH2C):c.*363C>T rs547082810 0.00040
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys) rs150289554 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_138694.4(PKHD1):c.*1450T>A rs755494395 0.00040
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_144508.5(KNL1):c.5538A>G (p.Glu1846=) rs180678267 0.00040
NM_147196.3(TMIE):c.*148A>G rs190002988 0.00040
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00040
NM_201384.3(PLEC):c.8065C>T (p.Arg2689Cys) rs373228579 0.00040
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00039
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001039958.2(MESP2):c.787C>G (p.Gln263Glu) rs199662104 0.00039
NM_001044385.3(TMEM237):c.*3517A>G rs563749617 0.00039
NM_001127649.3(PEX26):c.*1509C>G rs571401889 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509 0.00039
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) rs56178910 0.00039
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn) rs140655598 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) rs200127338 0.00039
NM_001351132.2(PEX5):c.754-4G>A rs111286659 0.00039
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187 0.00039
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_002618.4(PEX13):c.*1416G>T rs573040186 0.00039
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly) rs753349424 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=) rs146783211 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005522.5(HOXA1):c.210C>T (p.His70=) rs199620262 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_014363.6(SACS):c.*569G>A rs554938605 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu) rs201801114 0.00039
NM_015261.3(NCAPD3):c.1000G>A (p.Ala334Thr) rs140427183 0.00039
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732 0.00039
NM_015404.4(WHRN):c.-483G>A rs886063374 0.00039
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262 0.00039
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) rs150713148 0.00039
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=) rs149267802 0.00039
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_016042.4(EXOSC3):c.*954G>A rs530895640 0.00039
NM_016239.4(MYO15A):c.876C>T (p.Pro292=) rs368755362 0.00039
NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala) rs35675577 0.00039
NM_017791.3(FLVCR2):c.*1070T>C rs533763314 0.00039
NM_017791.3(FLVCR2):c.*1071G>T rs553617789 0.00039
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys) rs139736291 0.00039
NM_018249.6(CDK5RAP2):c.4626G>T (p.Leu1542Phe) rs141563261 0.00039
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) rs201355368 0.00039
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly) rs34177811 0.00039
NM_020458.4(TTC7A):c.2080A>G (p.Met694Val) rs143506259 0.00039
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp) rs139034513 0.00039
NM_022124.6(CDH23):c.2163C>T (p.Ile721=) rs192326086 0.00039
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_025074.7(FRAS1):c.*219T>C rs145739907 0.00039
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_138694.4(PKHD1):c.7215+13G>T rs562612275 0.00039
NM_145861.4(EDARADD):c.*1072C>T rs988277282 0.00039
NM_153717.3(EVC):c.*858G>A rs544337142 0.00039
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188 0.00039
NM_178170.3(NEK8):c.899G>A (p.Arg300Gln) rs140077709 0.00039
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420 0.00039
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr) rs112273610 0.00039
NM_207361.6(FREM2):c.*4225A>G rs571781749 0.00039
NM_000162.5(GCK):c.*764C>T rs185418856 0.00038
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00038
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000337.6(SGCD):c.*440G>A rs535200914 0.00038
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_000441.2(SLC26A4):c.*780T>C rs527503006 0.00038
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000492.4(CFTR):c.2620-583C>T rs781023677 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_001048166.1(STIL):c.467A>G (p.His156Arg) rs141352790 0.00038
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp) rs200283315 0.00038
NM_001134793.2(HYLS1):c.-26+11dup rs372611002 0.00038
NM_001145809.2(MYH14):c.1419C>T (p.Arg473=) rs371946306 0.00038
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys) rs149101001 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) rs143975327 0.00038
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001378609.3(OTOGL):c.1395-3T>C rs374833540 0.00038
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) rs200535417 0.00038
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_002906.4(RDX):c.-91G>A rs140928713 0.00038
NM_003860.4(BANF1):c.9C>T (p.Thr3=) rs150372514 0.00038
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) rs149826387 0.00038
NM_004999.4(MYO6):c.*3230T>C rs562815854 0.00038
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765 0.00038
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_006208.3(ENPP1):c.*1525T>G rs751093256 0.00038
NM_006208.3(ENPP1):c.*467A>C rs866470811 0.00038
NM_006397.3(RNASEH2A):c.*16G>T rs199696470 0.00038
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_006846.4(SPINK5):c.603-3C>T rs185217593 0.00038
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) rs186348476 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_016042.4(EXOSC3):c.*795A>G rs558579097 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_018389.5(SLC35C1):c.534C>T (p.Ile178=) rs149296455 0.00038
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) rs202030777 0.00038
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_153717.3(EVC):c.*198G>A rs181401771 0.00038
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_201384.3(PLEC):c.3208A>G (p.Thr1070Ala) rs185859960 0.00038
NM_201384.3(PLEC):c.4795G>A (p.Glu1599Lys) rs782412083 0.00038
NM_201384.3(PLEC):c.9239A>G (p.Glu3080Gly) rs200069306 0.00038
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys) rs2307491 0.00037
NM_000260.4(MYO7A):c.735+3G>A rs371398512 0.00037
NM_000287.4(PEX6):c.*343G>C rs117055658 0.00037
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_000320.3(QDPR):c.450C>T (p.Tyr150=) rs140949360 0.00037
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) rs3917997 0.00037
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg) rs140140023 0.00037
NM_001077365.2(POMT1):c.*613C>T rs551579745 0.00037
NM_001099287.2(NIPAL4):c.919G>A (p.Val307Ile) rs137909022 0.00037
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001145809.2(MYH14):c.*738C>T rs540069517 0.00037
NM_001145809.2(MYH14):c.-4+8C>A rs778355560 0.00037
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001184.4(ATR):c.2946C>T (p.Phe982=) rs138061993 0.00037
NM_001184.4(ATR):c.6023G>T (p.Arg2008Leu) rs145569221 0.00037
NM_001199799.2(ILDR1):c.1184T>C (p.Leu395Ser) rs143311654 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001278293.3(ARL6):c.493A>G (p.Ile165Val) rs146978266 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002855.5(NECTIN1):c.375G>A (p.Glu125=) rs146919951 0.00037
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=) rs189103460 0.00037
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_014363.6(SACS):c.*942A>G rs886050068 0.00037
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009 0.00037
NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys) rs114489653 0.00037
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00037
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_020661.4(AICDA):c.*235C>G rs112610523 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032575.3(GLIS2):c.*762C>T rs573926229 0.00037
NM_133379.5(TTN):c.11649T>G (p.Phe3883Leu) rs148581002 0.00037
NM_138694.4(PKHD1):c.5381-12T>C rs143682303 0.00037
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn) rs148334092 0.00037
NM_153717.3(EVC):c.*1256C>T rs532180814 0.00037
NM_153717.3(EVC):c.*1599C>T rs527297174 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) rs146038901 0.00037
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00037
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr) rs201688261 0.00037
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_000231.3(SGCG):c.716C>T (p.Ala239Val) rs149086397 0.00036
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817 0.00036
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=) rs561459113 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00036
NM_000553.6(WRN):c.3211C>T (p.Pro1071Ser) rs61761623 0.00036
NM_001013838.3(CARMIL2):c.1308C>G (p.Asp436Glu) rs202220889 0.00036
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001039958.2(MESP2):c.*169G>A rs773406154 0.00036
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) rs759821636 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala) rs78895258 0.00036
NM_001267550.2(TTN):c.*623G>A rs778009328 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001351132.2(PEX5):c.*137C>T rs773375737 0.00036
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn) rs373777402 0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) rs369060106 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.4368-1519A>G rs532994771 0.00036
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys) rs138962514 0.00036
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002855.5(NECTIN1):c.*2374C>T rs753029528 0.00036
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_004937.3(CTNS):c.*469G>A rs150501484 0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_006208.3(ENPP1):c.*1125G>T rs565731581 0.00036
NM_006208.3(ENPP1):c.*2342G>T rs570500845 0.00036
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_014798.3(PLEKHM1):c.1348C>A (p.Pro450Thr) rs144621291 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His) rs369950850 0.00036
NM_015294.6(TRIM37):c.*235G>A rs779555532 0.00036
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) rs376475182 0.00036
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) rs200456053 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala) rs201246214 0.00036
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val) rs199831544 0.00036
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser) rs201606637 0.00036
NM_016373.4(WWOX):c.998G>A (p.Arg333His) rs184773837 0.00036
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_016938.5(EFEMP2):c.-13G>A rs886048507 0.00036
NM_017433.5(MYO3A):c.3000-11T>C rs375346333 0.00036
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018699.4(PRDM5):c.1189-14T>C rs375296023 0.00036
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_020661.4(AICDA):c.*625T>C rs112850229 0.00036
NM_022098.4(XPNPEP3):c.*1249T>C rs886057517 0.00036
NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr) rs752662417 0.00036
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) rs375162061 0.00036
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_145861.4(EDARADD):c.*757A>C rs201197563 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_170784.3(MKKS):c.1161+3A>G rs192968747 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_182961.4(SYNE1):c.309+14A>G rs368595280 0.00036
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_201384.3(PLEC):c.634C>T (p.Arg212Trp) rs374195373 0.00036
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175 0.00035
NM_000211.5(ITGB2):c.742-15A>G rs199665785 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_000370.3(TTPA):c.*806C>T rs752352118 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001085429.2(TMEM213):c.49G>C (p.Ala17Pro) rs200591064 0.00035
NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val) rs138493429 0.00035
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) rs199901527 0.00035
NM_001184.4(ATR):c.*72T>G rs750327573 0.00035
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) rs571203897 0.00035
NM_001254.4(CDC6):c.*747G>A rs4135034 0.00035
NM_001256317.3(TMPRSS3):c.*402C>T rs764929225 0.00035
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr) rs535815566 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly) rs143307183 0.00035
NM_001366722.1(GRIP1):c.*1262T>A rs886049791 0.00035
NM_002485.5(NBN):c.*2206C>T rs547081912 0.00035
NM_002618.4(PEX13):c.*1377G>A rs536283006 0.00035
NM_002855.5(NECTIN1):c.561T>A (p.Thr187=) rs144990451 0.00035
NM_004100.5(EYA4):c.*2511G>A rs560590444 0.00035
NM_004100.5(EYA4):c.*3226A>C rs73546871 0.00035
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_004937.3(CTNS):c.*2568G>C rs770525743 0.00035
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_005708.5(GPC6):c.*1035C>T rs555535068 0.00035
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys) rs148619884 0.00035
NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn) rs150260808 0.00035
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_006846.4(SPINK5):c.803G>A (p.Arg268His) rs375727921 0.00035
NM_006892.4(DNMT3B):c.565G>A (p.Ala189Thr) rs147591633 0.00035
NM_012233.3(RAB3GAP1):c.*1611A>T rs188370805 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00035
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_016239.4(MYO15A):c.-144G>A rs751602395 0.00035
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) rs141473928 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018136.5(ASPM):c.*82G>A rs775183015 0.00035
NM_018319.4(TDP1):c.*950C>T rs577840358 0.00035
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024649.5(BBS1):c.*1349T>C rs752758324 0.00035
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser) rs36086547 0.00035
NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile) rs201131604 0.00035
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) rs200888184 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_138387.4(G6PC3):c.1006A>C (p.Ser336Arg) rs141431274 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167 0.00035
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227 0.00035
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser) rs148242740 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_206933.4(USH2A):c.4627+561T>C rs566131886 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432 0.00034
NM_000163.5(GHR):c.-10T>C rs201804261 0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 0.00034
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000271.5(NPC1):c.1937G>A (p.Arg646His) rs112387560 0.00034
NM_000286.3(PEX12):c.-495C>T rs577172680 0.00034
NM_000302.4(PLOD1):c.608G>A (p.Arg203His) rs145482271 0.00034
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166 0.00034
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000370.3(TTPA):c.*161A>G rs183885151 0.00034
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_000414.4(HSD17B4):c.*134C>T rs543194892 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_000466.3(PEX1):c.2584-9del rs886062504 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=) rs374134161 0.00034
NM_001013693.3(LDLRAD2):c.*572G>A rs752420673 0.00034
NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu) rs202084183 0.00034
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_001040167.2(LFNG):c.100C>A (p.Pro34Thr) rs965725102 0.00034
NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) rs200665923 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001080476.3(GRXCR1):c.*89G>A rs564643132 0.00034
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu) rs149408006 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001160372.4(TRAPPC9):c.3055+11G>A rs374709193 0.00034
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln) rs145503551 0.00034
NM_001184.4(ATR):c.6221+3G>A rs200980335 0.00034
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) rs201625116 0.00034
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00034
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_001366722.1(GRIP1):c.2870G>A (p.Arg957His) rs202030145 0.00034
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00034
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser) rs139547641 0.00034
NM_002241.5(KCNJ10):c.*3158C>T rs777813628 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) rs144530798 0.00034
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile) rs149325182 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu) rs142088776 0.00034
NM_002618.4(PEX13):c.*446A>G rs554737021 0.00034
NM_002906.4(RDX):c.1345-7T>C rs142161673 0.00034
NM_003673.4(TCAP):c.*297C>T rs772638575 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_004407.4(DMP1):c.91G>A (p.Glu31Lys) rs202210004 0.00034
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=) rs141727314 0.00034
NM_004813.4(PEX16):c.*107C>T rs201513691 0.00034
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.9710-10G>A rs369434104 0.00034
NM_005982.4(SIX1):c.*755T>G rs868568764 0.00034
NM_006208.3(ENPP1):c.*3602C>T rs540525767 0.00034
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser) rs148646143 0.00034
NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) rs145046338 0.00034
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile) rs149010855 0.00034
NM_013382.7(POMT2):c.*196G>A rs773072355 0.00034
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly) rs150001738 0.00034
NM_014780.5(CUL7):c.*57A>G rs565386041 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015102.5(NPHP4):c.2045G>A (p.Arg682Gln) rs543023683 0.00034
NM_015102.5(NPHP4):c.2485+9C>A rs200952409 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=) rs140804613 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017755.6(NSUN2):c.1602-14G>C rs771558713 0.00034
NM_018249.6(CDK5RAP2):c.519C>T (p.Ala173=) rs139736411 0.00034
NM_018451.5(CENPJ):c.*541T>C rs533142063 0.00034
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_021252.5(RAB18):c.*1136G>A rs753649409 0.00034
NM_021628.3(ALOXE3):c.-295T>C rs575913104 0.00034
NM_021942.6(TRAPPC11):c.2851+5G>A rs373713956 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) rs374156784 0.00034
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) rs150500299 0.00034
NM_031885.5(BBS2):c.1797+12C>T rs370960689 0.00034
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_032119.4(ADGRV1):c.8824+10G>A rs180693049 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_033064.5(ATCAY):c.*3404C>T rs540478786 0.00034
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly) rs113313996 0.00034
NM_147196.3(TMIE):c.102G>A (p.Thr34=) rs201107982 0.00034
NM_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_182961.4(SYNE1):c.*433A>G rs886061189 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys) rs142258643 0.00034
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_201384.3(PLEC):c.12677C>T (p.Thr4226Met) rs188341564 0.00034
NM_201384.3(PLEC):c.6383G>A (p.Arg2128Gln) rs201895791 0.00034
NM_203486.3(DLL3):c.1759-31C>G rs200669115 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_207361.6(FREM2):c.8196C>T (p.Ser2732=) rs151062281 0.00034
NM_000260.4(MYO7A):c.2282+5G>A rs540145750 0.00033
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_001048166.1(STIL):c.*203C>T rs564629203 0.00033
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_001379180.1(ESRRB):c.*3331C>T rs541309197 0.00033
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_002180.3(IGHMBP2):c.*692A>G rs188469352 0.00033
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002855.5(NECTIN1):c.*348C>T rs748100409 0.00033
NM_003193.5(TBCE):c.835T>C (p.Leu279=) rs147049084 0.00033
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005522.5(HOXA1):c.741G>A (p.Glu247=) rs143597165 0.00033
NM_012233.3(RAB3GAP1):c.*647T>C rs553227077 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val) rs370710427 0.00033
NM_013382.7(POMT2):c.*1805G>A rs184473107 0.00033
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn) rs368298952 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu) rs143642427 0.00033
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) rs370898199 0.00033
NM_016042.4(EXOSC3):c.-11T>C rs373191549 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_017755.6(NSUN2):c.*389A>G rs780214753 0.00033
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00033
NM_018136.5(ASPM):c.1467A>G (p.Arg489=) rs146561469 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) rs144746398 0.00033
NM_018718.3(CEP41):c.*4599A>G rs753024852 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00033
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000082.4(ERCC8):c.1023A>G (p.Val341=) rs138173863 0.00032
NM_000124.4(ERCC6):c.*2460T>C rs566027784 0.00032
NM_000208.4(INSR):c.*3654G>A rs753611294 0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00032
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_001023570.4(IQCB1):c.-190C>T rs145282757 0.00032
NM_001044385.3(TMEM237):c.*1008A>G rs777244164 0.00032
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001098484.3(SLC4A4):c.*3713T>G rs762831035 0.00032
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001127649.3(PEX26):c.*2386C>G rs148534099 0.00032
NM_001127671.2(LIFR):c.*5925C>A rs571064663 0.00032
NM_001146079.2(CLDN14):c.-130G>A rs537704763 0.00032
NM_001184.4(ATR):c.3241C>T (p.Leu1081=) rs139173669 0.00032
NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys) rs376452872 0.00032
NM_001195248.2(APTX):c.*834C>G rs770908697 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) rs557079751 0.00032
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) rs200446131 0.00032
NM_001351132.2(PEX5):c.*446_*452dup rs771366153 0.00032
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile) rs200568988 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_001379286.1(ZNF423):c.2531C>T (p.Ala844Val) rs201213567 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) rs145545828 0.00032
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu) rs140968382 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002473.6(MYH9):c.*748A>G rs568025076 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_002857.4(PEX19):c.*2717A>G rs574056299 0.00032
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_003332.4(TYROBP):c.*103T>A rs777094340 0.00032
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) rs141901506 0.00032
NM_004937.2(CTNS):c.-509C>G rs534946329 0.00032
NM_004999.4(MYO6):c.*263T>C rs552963186 0.00032
NM_004999.4(MYO6):c.*3874G>A rs187631847 0.00032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_005422.4(TECTA):c.552C>T (p.Tyr184=) rs148364865 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_006892.4(DNMT3B):c.*1336G>A rs532308734 0.00032
NM_012210.4(TRIM32):c.*1411_*1414dup rs758130716 0.00032
NM_012210.4(TRIM32):c.*177C>T rs149956877 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00032
NM_014780.5(CUL7):c.*71A>G rs547477552 0.00032
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr) rs150956860 0.00032
NM_016239.4(MYO15A):c.3647G>A (p.Arg1216His) rs202148411 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val) rs200815431 0.00032
NM_016464.5(TMEM138):c.-157C>G rs779029696 0.00032
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_020458.4(TTC7A):c.1532A>G (p.Asp511Gly) rs139416474 0.00032
NM_020964.3(EPG5):c.2718+3A>G rs374002995 0.00032
NM_020964.3(EPG5):c.6787C>G (p.His2263Asp) rs201639757 0.00032
NM_024685.4(BBS10):c.*529C>T rs571517922 0.00032
NM_024753.5(TTC21B):c.*473C>G rs763021259 0.00032
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys) rs373994193 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_032575.3(GLIS2):c.*663C>G rs571482423 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr) rs369105155 0.00032
NM_145861.4(EDARADD):c.*272G>A rs760609411 0.00032
NM_147196.3(TMIE):c.*829G>T rs576080937 0.00032
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val) rs398123401 0.00032
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu) rs200691357 0.00032
NM_000019.3(ACAT1):c.*574G>C rs775813923 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000124.4(ERCC6):c.*1780T>C rs188228522 0.00031
NM_000124.4(ERCC6):c.*3720T>C rs183472492 0.00031
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602 0.00031
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
NM_000231.3(SGCG):c.8G>A (p.Arg3His) rs35105771 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871 0.00031
NM_000271.5(NPC1):c.-36A>C rs750622739 0.00031
NM_000317.3(PTS):c.17G>T (p.Gly6Val) rs138154701 0.00031
NM_000318.3(PEX2):c.*1858G>A rs777834563 0.00031
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000506.5(F2):c.234G>A (p.Thr78=) rs151121282 0.00031
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895 0.00031
NM_000760.4(CSF3R):c.2434G>A (p.Val812Ile) rs528303671 0.00031
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001042545.2(LTBP4):c.*121C>G rs551134075 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) rs200226048 0.00031
NM_001099287.2(NIPAL4):c.*1347T>A rs567119200 0.00031
NM_001127649.3(PEX26):c.*578A>G rs150745941 0.00031
NM_001143992.2(WRAP53):c.1269-13C>T rs371953585 0.00031
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg) rs146422285 0.00031
NM_001184.4(ATR):c.1764A>G (p.Glu588=) rs149482096 0.00031
NM_001195248.2(APTX):c.*858C>G rs772290850 0.00031
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) rs201268590 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00031
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala) rs138534983 0.00031
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu) rs141782041 0.00031
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_001384140.1(PCDH15):c.1762A>G (p.Asn588Asp) rs143897176 0.00031
NM_001384140.1(PCDH15):c.4203-8C>G rs200840022 0.00031
NM_001384140.1(PCDH15):c.4368-1262G>A rs187860910 0.00031
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560 0.00031
NM_002230.4(JUP):c.*339C>T rs575041614 0.00031
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720 0.00031
NM_002855.5(NECTIN1):c.*3567G>A rs181207779 0.00031
NM_002906.4(RDX):c.*1201A>G rs181866368 0.00031
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_003896.4(ST3GAL5):c.*432G>A rs753191965 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004525.3(LRP2):c.12812-14C>T rs200916161 0.00031
NM_004525.3(LRP2):c.1731G>A (p.Arg577=) rs142698246 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met) rs141464124 0.00031
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_005708.5(GPC6):c.*1439T>C rs117005708 0.00031
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006996.3(SLC19A2):c.*1186A>G rs922589020 0.00031
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492 0.00031
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012414.4(RAB3GAP2):c.*2450G>T rs568052992 0.00031
NM_014028.4(OSTM1):c.*2145A>T rs147517615 0.00031
NM_014042.3(ANAPC15):c.181-63G>T rs759367241 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser) rs144873582 0.00031
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr) rs140568381 0.00031
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=) rs199736016 0.00031
NM_020779.4(WDR35):c.*1253C>G rs368665906 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_021628.3(ALOXE3):c.1706C>A (p.Thr569Asn) rs142136672 0.00031
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) rs375918283 0.00031
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His) rs201942629 0.00031
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_025074.7(FRAS1):c.11637T>C (p.Asn3879=) rs147734882 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_032119.4(ADGRV1):c.*101T>C rs41315918 0.00031
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_032575.3(GLIS2):c.*1095G>A rs907099780 0.00031
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val) rs149586047 0.00031
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) rs61747503 0.00031
NM_182961.4(SYNE1):c.-49C>T rs373654060 0.00031
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272 0.00031
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys) rs149918889 0.00031
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941 0.00031
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212 0.00031
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser) rs202010719 0.00031
NM_201384.3(PLEC):c.4648C>T (p.Arg1550Trp) rs560918806 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys) rs147023536 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000271.5(NPC1):c.-139G>A rs781541939 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) rs200065382 0.00030
NM_000337.6(SGCD):c.*6186C>T rs559185520 0.00030
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile) rs112596218 0.00030
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) rs142560436 0.00030
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001048174.2(MUTYH):c.116-54C>T rs367908623 0.00030
NM_001098484.3(SLC4A4):c.1260C>G (p.Pro420=) rs137982286 0.00030
NM_001098484.3(SLC4A4):c.942G>C (p.Leu314=) rs146008079 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.4504C>T (p.Arg1502Trp) rs200819355 0.00030
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) rs146184921 0.00030
NM_002618.4(PEX13):c.*803A>G rs561112537 0.00030
NM_002618.4(PEX13):c.*90A>G rs535967834 0.00030
NM_004525.3(LRP2):c.3551-9C>A rs373882047 0.00030
NM_006005.3(WFS1):c.*300A>G rs541125786 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) rs142630687 0.00030
NM_006642.5(SDCCAG8):c.-121C>T rs768318766 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015294.6(TRIM37):c.*369C>T rs375182197 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293 0.00030
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_017875.4(SLC25A38):c.*547C>T rs559766369 0.00030
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) rs141545606 0.00030
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) rs150684410 0.00030
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_018718.3(CEP41):c.*805A>G rs145808545 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_032575.3(GLIS2):c.*43G>A rs184772323 0.00030
NM_139319.3(SLC17A8):c.*542G>A rs190631201 0.00030
NM_153717.3(EVC):c.-139G>A rs779841092 0.00030
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile) rs141049001 0.00030
NM_194248.3(OTOF):c.-89C>T rs576242306 0.00030
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000067.3(CA2):c.462G>A (p.Pro154=) rs140623407 0.00029
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr) rs371362494 0.00029
NM_000123.4(ERCC5):c.1641C>T (p.Asn547=) rs200615101 0.00029
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
NM_000211.4(ITGB2):c.-98T>C rs7280802 0.00029
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000260.4(MYO7A):c.1960C>T (p.Arg654Cys) rs201928014 0.00029
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.3925-8G>A rs367645097 0.00029
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000286.3(PEX12):c.*380G>C rs762716335 0.00029
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000318.3(PEX2):c.*1749A>T rs556984036 0.00029
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00029
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) rs200059719 0.00029
NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala) rs139655790 0.00029
NM_001042472.3(ABHD12):c.*22A>G rs377339443 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_001098484.3(SLC4A4):c.*2819A>C rs886059613 0.00029
NM_001098484.3(SLC4A4):c.390-11C>T rs201092552 0.00029
NM_001127649.3(PEX26):c.*977C>T rs181706274 0.00029
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val) rs144088139 0.00029
NM_001134831.2(AHI1):c.*793A>G rs191324834 0.00029
NM_001145809.2(MYH14):c.1026G>A (p.Pro342=) rs368124508 0.00029
NM_001160372.4(TRAPPC9):c.2556+11A>G rs201489589 0.00029
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) rs34181302 0.00029
NM_001184.4(ATR):c.2205C>T (p.His735=) rs148955716 0.00029
NM_001184.4(ATR):c.3581+5A>G rs369917154 0.00029
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001199563.2(BVES):c.910G>A (p.Asp304Asn) rs147469762 0.00029
NM_001267550.2(TTN):c.*968T>C rs772669140 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) rs113040775 0.00029
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) rs200148591 0.00029
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met) rs144897942 0.00029
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962 0.00029
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_001379180.1(ESRRB):c.*2751C>T rs533160995 0.00029
NM_001384140.1(PCDH15):c.4368-1142G>A rs549184328 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001386140.1(MTTP):c.-82C>T rs767201629 0.00029
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002241.5(KCNJ10):c.*734C>T rs778432509 0.00029
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002618.4(PEX13):c.*962G>A rs931059778 0.00029
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala) rs139875266 0.00029
NM_003383.5(VLDLR):c.*16T>C rs150475109 0.00029
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00029
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) rs146347005 0.00029
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser) rs145888212 0.00029
NM_004937.3(CTNS):c.661G>A (p.Val221Met) rs138270433 0.00029
NM_004999.4(MYO6):c.*1925A>G rs912042329 0.00029
NM_004999.4(MYO6):c.*4288G>A rs570588843 0.00029
NM_004999.4(MYO6):c.*4446A>G rs148227849 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006019.4(TCIRG1):c.1097G>A (p.Arg366His) rs369983011 0.00029
NM_006019.4(TCIRG1):c.1673+13G>A rs372404641 0.00029
NM_006019.4(TCIRG1):c.2046T>C (p.Pro682=) rs373493580 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) rs6672843 0.00029
NM_006846.4(SPINK5):c.1480-3C>T rs765586289 0.00029
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr) rs147353126 0.00029
NM_014028.4(OSTM1):c.*1205C>G rs145514255 0.00029
NM_014028.4(OSTM1):c.*147G>T rs117394334 0.00029
NM_014363.6(SACS):c.*222T>C rs577703833 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014780.5(CUL7):c.-236G>A rs886061423 0.00029
NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu) rs371429952 0.00029
NM_015102.5(NPHP4):c.2819C>T (p.Ala940Val) rs200136271 0.00029
NM_015102.5(NPHP4):c.34G>A (p.Val12Met) rs201713171 0.00029
NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His) rs374911539 0.00029
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729 0.00029
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met) rs200428790 0.00029
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu) rs993096170 0.00029
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_018075.5(ANO10):c.*82G>A rs560234921 0.00029
NM_018075.5(ANO10):c.-74C>T rs886058482 0.00029
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018249.6(CDK5RAP2):c.1072G>A (p.Ala358Thr) rs138995980 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_020631.5(PLEKHG5):c.*1289C>G rs886046487 0.00029
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441 0.00029
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp) rs78690150 0.00029
NM_021628.3(ALOXE3):c.1764C>T (p.His588=) rs144069104 0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) rs138546275 0.00029
NM_022098.4(XPNPEP3):c.*1161C>G rs764840110 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.5735G>A (p.Arg1912Gln) rs142663207 0.00029
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn) rs201190805 0.00029
NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu) rs202043019 0.00029
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) rs201160801 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_025216.2(WNT10A):c.-341A>G rs762914440 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_031885.5(BBS2):c.-2T>G rs111296910 0.00029
NM_032119.4(ADGRV1):c.-44C>T rs192362302 0.00029
NM_032119.4(ADGRV1):c.14466G>A (p.Val4822=) rs117641264 0.00029
NM_032193.4(RNASEH2C):c.*1737C>T rs886048487 0.00029
NM_033028.5(BBS4):c.*498T>C rs187276976 0.00029
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val) rs150706579 0.00029
NM_138694.4(PKHD1):c.*1217G>A rs886061605 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_144508.5(KNL1):c.5064G>C (p.Pro1688=) rs369221746 0.00029
NM_148919.4(PSMB8):c.*6G>C rs371747700 0.00029
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489 0.00029
NM_173477.5(USH1G):c.*482C>T rs75035213 0.00029
NM_174878.3(CLRN1):c.*835G>T rs558161150 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761 0.00029
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396 0.00029
NM_201384.3(PLEC):c.2719C>T (p.Arg907Cys) rs201386370 0.00029
NM_201384.3(PLEC):c.5027G>A (p.Arg1676His) rs62640371 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_206933.4(USH2A):c.2167+11C>T rs139647897 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr) rs200983871 0.00029
NM_000070.3(CAPN3):c.*237A>G rs753401049 0.00028
NM_000163.5(GHR):c.875+10G>C rs35111599 0.00028
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_000277.3(PAH):c.-104C>T rs767107144 0.00028
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000337.6(SGCD):c.*7559G>C rs751653849 0.00028
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu) rs374154973 0.00028
NM_001017420.3(ESCO2):c.*172G>C rs539459940 0.00028
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562 0.00028
NM_001099287.2(NIPAL4):c.653G>A (p.Arg218His) rs200033975 0.00028
NM_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser) rs189982575 0.00028
NM_001145809.2(MYH14):c.838G>A (p.Val280Ile) rs202246093 0.00028
NM_001164688.2(RD3):c.-293_-292dup rs1491560139 0.00028
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala) rs200883218 0.00028
NM_001254.4(CDC6):c.*181A>G rs141386457 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001283009.2(RTEL1):c.3900G>T (p.Gln1300His) rs374244090 0.00028
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117 0.00028
NM_001384140.1(PCDH15):c.3502-6G>A rs749897896 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001394148.2(LOC128706665):c.*130A>G rs3748466 0.00028
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) rs267607207 0.00028
NM_003630.3(PEX3):c.*677C>T rs886061136 0.00028
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924 0.00028
NM_004813.2(PEX16):c.-164G>T rs773746164 0.00028
NM_004999.4(MYO6):c.*1738A>G rs193019967 0.00028
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) rs146286188 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_006208.3(ENPP1):c.*1960C>T rs538657283 0.00028
NM_006208.3(ENPP1):c.*657A>G rs1020041286 0.00028
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006892.4(DNMT3B):c.*101G>A rs576264538 0.00028
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile) rs138077680 0.00028
NM_014797.3(ZBTB24):c.301G>A (p.Ala101Thr) rs144189559 0.00028
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys) rs146053426 0.00028
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr) rs202199543 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) rs377614503 0.00028
NM_015910.7(WDPCP):c.208+1G>A rs187135801 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met) rs193042691 0.00028
NM_018075.5(ANO10):c.-67C>T rs563565187 0.00028
NM_018699.4(PRDM5):c.1031-15T>C rs201474353 0.00028
NM_018972.4(GDAP1):c.*873T>C rs573385308 0.00028
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994 0.00028
NM_021252.5(RAB18):c.*1047T>G rs983211187 0.00028
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_024596.5(MCPH1):c.115-14C>T rs200346652 0.00028
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_025216.3(WNT10A):c.668G>A (p.Arg223His) rs143424659 0.00028
NM_033064.5(ATCAY):c.*681A>G rs772852314 0.00028
NM_145861.4(EDARADD):c.*195G>T rs775159272 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_152617.4(RNF168):c.596T>C (p.Leu199Ser) rs147030576 0.00028
NM_153212.3(GJB4):c.109G>A (p.Val37Met) rs146378222 0.00028
NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) rs200902480 0.00028
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707 0.00028
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val) rs200060757 0.00028
NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) rs782666455 0.00028
NM_201384.3(PLEC):c.4705A>G (p.Thr1569Ala) rs560777323 0.00028
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) rs181564966 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000067.3(CA2):c.*624T>C rs533282871 0.00027
NM_000211.5(ITGB2):c.1877+12C>T rs200144784 0.00027
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys) rs148404730 0.00027
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000337.6(SGCD):c.*2797A>T rs771116351 0.00027
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_001013693.3(LDLRAD2):c.*284C>T rs549986026 0.00027
NM_001044385.3(TMEM237):c.*987C>T rs568084746 0.00027
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001127649.3(PEX26):c.*2339G>A rs772852627 0.00027
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) rs202162034 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.30433+15A>T rs371872220 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001278293.3(ARL6):c.-207G>A rs189005414 0.00027
NM_001278293.3(ARL6):c.-71C>G rs777066573 0.00027
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001366722.1(GRIP1):c.1688-6T>C rs111776176 0.00027
NM_001378615.1(CC2D2A):c.2056G>A (p.Val686Met) rs369476930 0.00027
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264 0.00027
NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg) rs141543499 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002855.5(NECTIN1):c.*1382T>C rs545288869 0.00027
NM_004813.4(PEX16):c.*70C>G rs530762140 0.00027
NM_005219.5(DIAPH1):c.*254G>A rs771538799 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_006019.4(TCIRG1):c.123C>T (p.Asn41=) rs147102889 0.00027
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_014321.4(ORC6):c.413C>A (p.Pro138Gln) rs3218745 0.00027
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys) rs75034086 0.00027
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_015665.6(AAAS):c.1416+8C>T rs370325323 0.00027
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_021252.5(RAB18):c.*3543G>A rs747609242 0.00027
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) rs201876362 0.00027
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) rs200820759 0.00027
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser) rs140748251 0.00027
NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) rs200203389 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987 0.00027
NM_033028.5(BBS4):c.*65G>A rs576340233 0.00027
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) rs201679317 0.00027
NM_144508.5(KNL1):c.6594+10G>A rs200845312 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_178335.3(CCDC50):c.227G>A (p.Arg76His) rs138443787 0.00027
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp) rs137985190 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His) rs201387815 0.00027
NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) rs200668859 0.00027
NM_201384.3(PLEC):c.1760G>A (p.Arg587Gln) rs200259757 0.00027
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) rs138640647 0.00027
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=) rs145783712 0.00027
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala) rs540292629 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000124.4(ERCC6):c.*900C>T rs189979670 0.00026
NM_000165.5(GJA1):c.724G>A (p.Gly242Arg) rs138386744 0.00026
NM_000208.4(INSR):c.*1191T>C rs564677377 0.00026
NM_000243.3(MEFV):c.*403A>C rs766365739 0.00026
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000271.5(NPC1):c.1947+6C>G rs745432812 0.00026
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_000320.3(QDPR):c.*612T>C rs776067259 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_000760.4(CSF3R):c.1510G>A (p.Val504Met) rs145256322 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_001017420.3(ESCO2):c.-33C>T rs886062856 0.00026
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_001042702.5(PJVK):c.-22-6T>A rs144704250 0.00026
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001048174.2(MUTYH):c.-6-14T>A rs587781284 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001083961.2(WDR62):c.546C>T (p.Asn182=) rs199931318 0.00026
NM_001098484.3(SLC4A4):c.2010G>A (p.Ser670=) rs147661107 0.00026
NM_001127649.3(PEX26):c.198C>T (p.Ala66=) rs374290931 0.00026
NM_001127649.3(PEX26):c.207C>T (p.Ala69=) rs375516973 0.00026
NM_001139.3(ALOX12B):c.528-8C>T rs200448967 0.00026
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) rs148453804 0.00026
NM_001256317.3(TMPRSS3):c.*53G>A rs137903612 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg) rs368297438 0.00026
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala) rs370498307 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) rs370809363 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001351132.2(PEX5):c.*627C>T rs146897980 0.00026
NM_001366722.1(GRIP1):c.1428G>A (p.Thr476=) rs202009431 0.00026
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001382391.1(CSPP1):c.1497-3C>T rs184342035 0.00026
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.4180G>A (p.Val1394Met) rs368216643 0.00026
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala) rs144324168 0.00026
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu) rs148491867 0.00026
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851 0.00026
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile) rs376553423 0.00026
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002855.5(NECTIN1):c.*1330G>C rs891490437 0.00026
NM_002855.5(NECTIN1):c.*2969A>T rs768510314 0.00026
NM_002855.5(NECTIN1):c.1471G>A (p.Asp491Asn) rs374643713 0.00026
NM_003383.5(VLDLR):c.*83C>T rs755339168 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val) rs146362932 0.00026
NM_003801.4(GPAA1):c.1268G>A (p.Gly423Glu) rs200528951 0.00026
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) rs146762807 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004525.3(LRP2):c.12296-14G>A rs183967792 0.00026
NM_004560.4(ROR2):c.*135G>T rs774621355 0.00026
NM_004560.4(ROR2):c.-121A>C rs555789981 0.00026
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00026
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_004937.2(CTNS):c.-451A>G rs1012479993 0.00026
NM_004937.3(CTNS):c.*262G>A rs201647994 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005219.5(DIAPH1):c.*236T>C rs774939804 0.00026
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu) rs144217842 0.00026
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=) rs202067055 0.00026
NM_005708.5(GPC6):c.*135T>C rs373108111 0.00026
NM_005982.4(SIX1):c.*736T>G rs768828257 0.00026
NM_006019.4(TCIRG1):c.1165+12G>A rs199554924 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_006892.4(DNMT3B):c.1088G>A (p.Arg363His) rs138596278 0.00026
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=) rs368295290 0.00026
NM_007259.5(VPS45):c.-4C>T rs200563209 0.00026
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076 0.00026
NM_012463.4(ATP6V0A2):c.*2198C>T rs886049073 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) rs41296694 0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr) rs140028127 0.00026
NM_014875.3(KIF14):c.4843G>A (p.Gly1615Ser) rs146186348 0.00026
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) rs778545156 0.00026
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631 0.00026
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met) rs372934556 0.00026
NM_015272.5(RPGRIP1L):c.*851C>A rs138437010 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) rs201462216 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=) rs371141615 0.00026
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830 0.00026
NM_015932.6(POMP):c.91C>T (p.Leu31Phe) rs138472024 0.00026
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser) rs138090529 0.00026
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) rs142806268 0.00026
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_018136.5(ASPM):c.2043G>A (p.Pro681=) rs147526389 0.00026
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695 0.00026
NM_018965.4(TREM2):c.451G>A (p.Glu151Lys) rs79011726 0.00026
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00026
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_021252.5(RAB18):c.*1110A>G rs79403948 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser) rs148567547 0.00026
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00026
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.772A>G (p.Ile258Val) rs370782827 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_024596.5(MCPH1):c.489T>C (p.Thr163=) rs191104356 0.00026
NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn) rs373074293 0.00026
NM_025114.3(CEP290):c.-295T>C rs374616539 0.00026
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854 0.00026
NM_032119.4(ADGRV1):c.13722C>T (p.Asp4574=) rs367768061 0.00026
NM_033064.5(ATCAY):c.*2668G>A rs555029183 0.00026
NM_144508.5(KNL1):c.5112C>T (p.Asn1704=) rs35625882 0.00026
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_178170.3(NEK8):c.*420C>T rs183805648 0.00026
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373 0.00026
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln) rs149701372 0.00026
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00026
NM_201384.3(PLEC):c.682C>T (p.Arg228Trp) rs200249446 0.00026
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp) rs202241157 0.00026
NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp) rs146274789 0.00026
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) rs200243588 0.00026
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00026
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp) rs200898675 0.00026
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000441.2(SLC26A4):c.*2047A>G rs534409544 0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_000553.6(WRN):c.229G>C (p.Asp77His) rs144670883 0.00025
NM_000553.6(WRN):c.326G>A (p.Cys109Tyr) rs142346721 0.00025
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_001085429.2(TMEM213):c.57C>T (p.Ala19=) rs373396667 0.00025
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001139.3(ALOX12B):c.*101A>G rs577124811 0.00025
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val) rs375300224 0.00025
NM_001194998.2(CEP152):c.*7T>C rs189659093 0.00025
NM_001254.4(CDC6):c.799T>C (p.Leu267=) rs200407669 0.00025
NM_001267550.2(TTN):c.*59G>A rs72629795 0.00025
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) rs372263729 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001366722.1(GRIP1):c.*85_*87dup rs553542220 0.00025
NM_001379180.1(ESRRB):c.*3338C>T rs192712591 0.00025
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile) rs188554662 0.00025
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00025
NM_001386140.1(MTTP):c.-84T>C rs761717058 0.00025
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His) rs200738080 0.00025
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His) rs146326783 0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_002617.4(PEX10):c.*420G>A rs868844283 0.00025
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg) rs138489241 0.00025
NM_002906.4(RDX):c.*740C>T rs558073403 0.00025
NM_004100.5(EYA4):c.*333G>A rs746964933 0.00025
NM_004525.3(LRP2):c.8529C>T (p.Asp2843=) rs144486598 0.00025
NM_004525.3(LRP2):c.8588C>T (p.Thr2863Met) rs372193473 0.00025
NM_004999.4(MYO6):c.*1884A>C rs562636905 0.00025
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_006019.4(TCIRG1):c.1464-10G>A rs370060039 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp) rs139225491 0.00025
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser) rs201430651 0.00025
NM_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
NM_015102.5(NPHP4):c.1844A>G (p.Gln615Arg) rs371424317 0.00025
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772 0.00025
NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) rs199941785 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys) rs200860374 0.00025
NM_016239.4(MYO15A):c.7396-8C>G rs370351502 0.00025
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) rs369959670 0.00025
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00025
NM_018136.5(ASPM):c.1921+13T>G rs41304245 0.00025
NM_018249.6(CDK5RAP2):c.703G>A (p.Ala235Thr) rs142783338 0.00025
NM_018451.5(CENPJ):c.2470A>T (p.Thr824Ser) rs149885751 0.00025
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_018718.3(CEP41):c.*4973C>T rs760160179 0.00025
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_020247.5(COQ8A):c.*612C>T rs747804729 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala) rs113303079 0.00025
NM_021628.3(ALOXE3):c.1017A>G (p.Leu339=) rs201870309 0.00025
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser) rs149626892 0.00025
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_022124.6(CDH23):c.-55G>A rs939943382 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His) rs201067092 0.00025
NM_022773.4(LMF1):c.1138G>A (p.Val380Met) rs201734228 0.00025
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) rs141200776 0.00025
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr) rs201154290 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_032575.3(GLIS2):c.1569G>A (p.Val523=) rs371022001 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00025
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_182961.4(SYNE1):c.23791-13C>T rs371245873 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys) rs202172091 0.00025
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp) rs782312793 0.00025
NM_201384.3(PLEC):c.9652C>T (p.Arg3218Trp) rs368758264 0.00025
NM_203486.3(DLL3):c.1759-53A>G rs762786941 0.00025
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_207361.6(FREM2):c.*6104G>A rs145810460 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys) rs146253209 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000123.4(ERCC5):c.542A>G (p.His181Arg) rs4150295 0.00024
NM_000163.5(GHR):c.*2376A>G rs181681602 0.00024
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=) rs200615045 0.00024
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu) rs373223342 0.00024
NM_000211.5(ITGB2):c.847G>A (p.Asp283Asn) rs149483341 0.00024
NM_000243.3(MEFV):c.1677C>T (p.Leu559=) rs144672997 0.00024
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000287.3(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000370.3(TTPA):c.*326T>A rs529634119 0.00024
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_000441.2(SLC26A4):c.*2093T>G rs542517353 0.00024
NM_000782.5(CYP24A1):c.*987T>C rs118099730 0.00024
NM_000782.5(CYP24A1):c.-135C>T rs556468258 0.00024
NM_001013693.3(LDLRAD2):c.*420G>A rs754815327 0.00024
NM_001017420.3(ESCO2):c.*915A>G rs867627204 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253 0.00024
NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala) rs148889712 0.00024
NM_001127671.2(LIFR):c.*1859A>C rs772252918 0.00024
NM_001127671.2(LIFR):c.*1860T>G rs748353397 0.00024
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00024
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu) rs377574169 0.00024
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310 0.00024
NM_001267550.2(TTN):c.*141T>G rs781617834 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.48461-11A>G rs371040291 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys) rs112817798 0.00024
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) rs896789657 0.00024
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) rs201898983 0.00024
NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) rs770164167 0.00024
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys) rs374554530 0.00024
NM_001379286.1(ZNF423):c.3254A>G (p.Gln1085Arg) rs200494811 0.00024
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) rs370605967 0.00024
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg) rs140716525 0.00024
NM_001384140.1(PCDH15):c.4368-1564A>T rs188426462 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) rs749667545 0.00024
NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys) rs145773738 0.00024
NM_002310.6(LIFR):c.-90T>C rs559787973 0.00024
NM_002617.4(PEX10):c.116C>T (p.Ala39Val) rs149421567 0.00024
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_003383.5(VLDLR):c.*48C>T rs368949453 0.00024
NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) rs146484645 0.00024
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004393.6(DAG1):c.920C>G (p.Pro307Arg) rs374092106 0.00024
NM_004525.3(LRP2):c.*122A>G rs570023654 0.00024
NM_004525.3(LRP2):c.3075G>C (p.Gln1025His) rs374011295 0.00024
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser) rs141260047 0.00024
NM_004525.3(LRP2):c.652+4C>T rs192813501 0.00024
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) rs144549032 0.00024
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) rs144897515 0.00024
NM_004937.3(CTNS):c.*1659C>T rs778764728 0.00024
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_006005.3(WFS1):c.*455A>G rs756674774 0.00024
NM_006642.5(SDCCAG8):c.1068+3A>G rs201388041 0.00024
NM_006721.4(ADK):c.429C>T (p.Cys143=) rs142477111 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006846.4(SPINK5):c.551G>A (p.Gly184Asp) rs201812473 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_012418.4(FSCN2):c.72del (p.Thr25fs) rs376633374 0.00024
NM_012463.4(ATP6V0A2):c.*1803C>T rs117646592 0.00024
NM_013382.7(POMT2):c.*622C>G rs886050819 0.00024
NM_014028.4(OSTM1):c.*3186T>C rs562003144 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014797.3(ZBTB24):c.1237C>T (p.Arg413Cys) rs149690823 0.00024
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp) rs112958115 0.00024
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu) rs370837214 0.00024
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile) rs772753780 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015404.4(WHRN):c.-595G>A rs1030140507 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val) rs144767615 0.00024
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00024
NM_016239.4(MYO15A):c.4142+6T>C rs368090576 0.00024
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys) rs193001955 0.00024
NM_017433.5(MYO3A):c.1170+15G>A rs764976663 0.00024
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg) rs200014799 0.00024
NM_018249.6(CDK5RAP2):c.*47C>T rs371900717 0.00024
NM_018249.6(CDK5RAP2):c.3686A>G (p.Asn1229Ser) rs148403620 0.00024
NM_018718.3(CEP41):c.*2226G>A rs115431091 0.00024
NM_020632.3(ATP6V0A4):c.1977G>A (p.Pro659=) rs186997078 0.00024
NM_021628.3(ALOXE3):c.650C>T (p.Thr217Met) rs200646727 0.00024
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
NM_024685.4(BBS10):c.*1197A>G rs1021806409 0.00024
NM_024685.4(BBS10):c.*773T>C rs549588883 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser) rs775114398 0.00024
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala) rs150069992 0.00024
NM_033064.5(ATCAY):c.405G>A (p.Ala135=) rs202077180 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026 0.00024
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) rs138984845 0.00024
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530 0.00024
NM_144596.4(TTC8):c.*92C>T rs148799039 0.00024
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln) rs150931960 0.00024
NM_152618.3(BBS12):c.-152C>G rs886059056 0.00024
NM_153676.4(USH1C):c.275G>A (p.Arg92His) rs147954324 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_174878.3(CLRN1):c.*425G>A rs778645950 0.00024
NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg) rs202102961 0.00024
NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln) rs368453150 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011 0.00024
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645 0.00024
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162 0.00024
NM_182961.4(SYNE1):c.6382-3C>T rs373663183 0.00024
NM_194248.3(OTOF):c.*714A>T rs868381441 0.00024
NM_194248.3(OTOF):c.783C>T (p.Ile261=) rs556182666 0.00024
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_201384.3(PLEC):c.4843C>G (p.Gln1615Glu) rs782766351 0.00024
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp) rs192022872 0.00024
NM_201384.3(PLEC):c.5222G>A (p.Arg1741His) rs782125424 0.00024
NM_201384.3(PLEC):c.6385G>T (p.Ala2129Ser) rs782449012 0.00024
NM_201384.3(PLEC):c.6515A>G (p.Lys2172Arg) rs782342557 0.00024
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00024
NM_201384.3(PLEC):c.9658C>T (p.Arg3220Trp) rs200643300 0.00024
NM_201384.3(PLEC):c.9791C>T (p.Ala3264Val) rs200413602 0.00024
NM_203486.3(DLL3):c.1758+57C>T rs147582946 0.00024
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_000124.4(ERCC6):c.*2237C>T rs192242583 0.00023
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000337.6(SGCD):c.3+3G>C rs573109924 0.00023
NM_000360.4(TH):c.1349G>A (p.Arg450His) rs138291013 0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000370.3(TTPA):c.*1365A>C rs181348477 0.00023
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176 0.00023
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509 0.00023
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884 0.00023
NM_000441.2(SLC26A4):c.*36C>T rs764382402 0.00023
NM_000553.6(WRN):c.1067A>G (p.Lys356Arg) rs556227294 0.00023
NM_001017420.3(ESCO2):c.-44G>A rs886062855 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00023
NM_001042472.3(ABHD12):c.960C>T (p.His320=) rs146195280 0.00023
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
NM_001098484.3(SLC4A4):c.3177C>T (p.Ser1059=) rs139191615 0.00023
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766 0.00023
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_001256317.3(TMPRSS3):c.-36G>C rs186244930 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.34354G>A (p.Val11452Met) rs938988662 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001351132.2(PEX5):c.-5T>C rs371185376 0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu) rs200585917 0.00023
NM_001384474.1(LOXHD1):c.*19C>T rs778387862 0.00023
NM_001384474.1(LOXHD1):c.*73A>T rs748582582 0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_002473.6(MYH9):c.*193C>T rs181364853 0.00023
NM_002617.4(PEX10):c.*401A>C rs866387988 0.00023
NM_002618.4(PEX13):c.*2495A>T rs777198802 0.00023
NM_002855.5(NECTIN1):c.618G>A (p.Thr206=) rs146567321 0.00023
NM_003630.3(PEX3):c.*287A>G rs779692327 0.00023
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_003937.3(KYNU):c.563G>A (p.Arg188Gln) rs2304705 0.00023
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004937.3(CTNS):c.444G>A (p.Met148Ile) rs199977728 0.00023
NM_005529.7(HSPG2):c.2685+6C>T rs189296705 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005708.5(GPC6):c.*1169T>C rs886050353 0.00023
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_006019.4(TCIRG1):c.-53G>A rs554788440 0.00023
NM_006432.5(NPC2):c.*237G>A rs185533644 0.00023
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586 0.00023
NM_006892.4(DNMT3B):c.*832T>C rs753244931 0.00023
NM_007156.5(ZXDA):c.403_404del (p.Cys135fs) rs753063356 0.00023
NM_012414.4(RAB3GAP2):c.*2176G>C rs370566079 0.00023
NM_012414.4(RAB3GAP2):c.-87A>G rs576041163 0.00023
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414 0.00023
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_014425.5(INVS):c.-129C>A rs533889420 0.00023
NM_014780.5(CUL7):c.1716C>G (p.Ala572=) rs150213603 0.00023
NM_014780.5(CUL7):c.3283C>T (p.Arg1095Cys) rs150015706 0.00023
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg) rs375085754 0.00023
NM_014956.5(CEP164):c.2669G>A (p.Arg890His) rs368178224 0.00023
NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=) rs151151838 0.00023
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) rs200222411 0.00023
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly) rs187418052 0.00023
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu) rs142378871 0.00023
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg) rs141237492 0.00023
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=) rs113239817 0.00023
NM_018699.4(PRDM5):c.-61G>C rs556802821 0.00023
NM_018972.4(GDAP1):c.*1415C>T rs558846970 0.00023
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_020964.3(EPG5):c.31G>A (p.Ala11Thr) rs375661582 0.00023
NM_022098.4(XPNPEP3):c.*150T>G rs138316056 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) rs150810544 0.00023
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915 0.00023
NM_145861.4(EDARADD):c.*765G>A rs573814452 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500 0.00023
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_194248.3(OTOF):c.-54G>A rs571817012 0.00023
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) rs143681049 0.00023
NM_201384.3(PLEC):c.3442G>A (p.Ala1148Thr) rs370869846 0.00023
NM_201384.3(PLEC):c.5732G>A (p.Gly1911Glu) rs377030479 0.00023
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile) rs146156360 0.00023
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys) rs199718635 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000124.4(ERCC6):c.*977A>G rs765959190 0.00022
NM_000163.5(GHR):c.82A>G (p.Ile28Val) rs143287692 0.00022
NM_000163.5(GHR):c.876-15T>G rs199960137 0.00022
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) rs373599360 0.00022
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) rs185748200 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000281.4(PCBD1):c.*29G>A rs539645507 0.00022
NM_000286.3(PEX12):c.*923G>A rs576761038 0.00022
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) rs200868032 0.00022
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_000441.2(SLC26A4):c.*409A>T rs752578836 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000506.5(F2):c.371G>A (p.Arg124Gln) rs139148365 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000782.5(CYP24A1):c.*244C>T rs546594298 0.00022
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=) rs370227491 0.00022
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu) rs144586803 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001099287.2(NIPAL4):c.*1069A>C rs544326627 0.00022
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00022
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln) rs199948706 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00022
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys) rs988844595 0.00022
NM_001267550.2(TTN):c.54811+15G>A rs201450276 0.00022
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr) rs371030086 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_001379286.1(ZNF423):c.317C>G (p.Pro106Arg) rs113358702 0.00022
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly) rs61735482 0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.1970+9G>A rs532438706 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00022
NM_001384474.1(LOXHD1):c.3924C>T (p.Tyr1308=) rs184966970 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001393500.2(TOMT):c.486C>T (p.Asp162=) rs373088272 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_002906.4(RDX):c.1049G>A (p.Arg350His) rs377016439 0.00022
NM_003383.5(VLDLR):c.2104+5C>T rs201953557 0.00022
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_003896.4(ST3GAL5):c.*69A>G rs886056391 0.00022
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=) rs199590656 0.00022
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004525.3(LRP2):c.9040C>T (p.Arg3014Trp) rs142093111 0.00022
NM_004560.4(ROR2):c.-102G>T rs932588990 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=) rs142288625 0.00022
NM_005708.5(GPC6):c.*3234A>G rs564307867 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006019.4(TCIRG1):c.1709C>T (p.Thr570Met) rs61730880 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) rs201090454 0.00022
NM_012414.4(RAB3GAP2):c.*2518A>G rs528100310 0.00022
NM_013382.7(POMT2):c.*2165T>C rs770272986 0.00022
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_014028.4(OSTM1):c.*2799A>G rs747305519 0.00022
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp) rs370949695 0.00022
NM_014780.5(CUL7):c.2789G>A (p.Ser930Asn) rs61750321 0.00022
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala) rs147746626 0.00022
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=) rs374690894 0.00022
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441 0.00022
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_016042.4(EXOSC3):c.*847T>A rs566642894 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_016239.4(MYO15A):c.6274-10C>T rs201459354 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter) rs146106052 0.00022
NM_017755.6(NSUN2):c.486A>G (p.Glu162=) rs147958833 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_018319.4(TDP1):c.*1355G>A rs755484553 0.00022
NM_018319.4(TDP1):c.884+5G>A rs370991229 0.00022
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) rs201325904 0.00022
NM_018718.3(CEP41):c.*1341A>C rs782742227 0.00022
NM_020247.5(COQ8A):c.*234G>A rs188462608 0.00022
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00022
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile) rs377499566 0.00022
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701 0.00022
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys) rs145110365 0.00022
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) rs556803400 0.00022
NM_024596.5(MCPH1):c.1742A>G (p.Glu581Gly) rs35402812 0.00022
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_025074.7(FRAS1):c.*1384C>T rs771590846 0.00022
NM_025074.7(FRAS1):c.*2261C>T rs886059654 0.00022
NM_025074.7(FRAS1):c.*880C>A rs886059649 0.00022
NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu) rs202092409 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met) rs370395204 0.00022
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln) rs772603458 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025216.2(WNT10A):c.-149G>T rs886055641 0.00022
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=) rs201475256 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544 0.00022
NM_033064.5(ATCAY):c.*212C>T rs764132493 0.00022
NM_033550.4(TP53RK):c.337A>G (p.Met113Val) rs45570735 0.00022
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) rs142232146 0.00022
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 0.00022
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
NM_173477.5(USH1G):c.*809C>A rs886053386 0.00022
NM_173477.5(USH1G):c.1170C>T (p.Ser390=) rs199724052 0.00022
NM_173551.5(ANKS6):c.1883C>T (p.Ser628Phe) rs554990244 0.00022
NM_174878.3(CLRN1):c.*1038G>A rs201534956 0.00022
NM_174936.4(PCSK9):c.*950C>T rs72646537 0.00022
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) rs199933041 0.00022
NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys) rs201548032 0.00022
NM_182548.3(LHFPL5):c.-337G>T rs187215821 0.00022
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly) rs189734757 0.00022
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) rs139463596 0.00022
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His) rs200573274 0.00022
NM_201384.3(PLEC):c.2434G>C (p.Val812Leu) rs372398638 0.00022
NM_201384.3(PLEC):c.4745G>A (p.Arg1582His) rs781876093 0.00022
NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) rs142597040 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys) rs140983855 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_207361.6(FREM2):c.6020-13C>T rs200860319 0.00022
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NR_003051.4(RMRP):n.164C>T rs550203343 0.00022
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000070.3(CAPN3):c.*265C>T rs74009086 0.00021
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=) rs28364528 0.00021
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) rs371904688 0.00021
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.2698G>A (p.Val900Ile) rs144029037 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) rs374655803 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288 0.00021
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000337.6(SGCD):c.*5337G>A rs144968734 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000441.2(SLC26A4):c.2236-15G>A rs372776461 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547 0.00021
NM_000553.6(WRN):c.3820-12A>G rs374684032 0.00021
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00021
NM_001048166.1(STIL):c.2064G>A (p.Pro688=) rs138834578 0.00021
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) rs145464516 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys) rs767030060 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001098484.3(SLC4A4):c.*2975G>A rs554658080 0.00021
NM_001122769.3(LCA5):c.1083A>G (p.Pro361=) rs367733392 0.00021
NM_001127649.3(PEX26):c.*280G>A rs188897908 0.00021
NM_001128178.3(NPHP1):c.69+4T>C rs570913772 0.00021
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001139.3(ALOX12B):c.1362+4A>C rs374549612 0.00021
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) rs145760222 0.00021
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00021
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416 0.00021
NM_001146079.2(CLDN14):c.*66G>A rs369966830 0.00021
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His) rs148420126 0.00021
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_001184.4(ATR):c.5257A>G (p.Ile1753Val) rs143806447 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_001242882.2(NAXD):c.671C>T (p.Thr224Met) rs149297756 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu) rs200700386 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg) rs369260968 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.59026G>T (p.Asp19676Tyr) rs186215280 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys) rs373867080 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00021
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001351132.2(PEX5):c.*322C>T rs764082627 0.00021
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe) rs568197988 0.00021
NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly) rs371888522 0.00021
NM_001376256.1(CRYM):c.943T>C (p.Ter315Gln) rs140779001 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001382391.1(CSPP1):c.3156+6C>T rs375100195 0.00021
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) rs201797415 0.00021
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.4877-15C>T rs138060208 0.00021
NM_001386140.1(MTTP):c.*989T>C rs183510498 0.00021
NM_001813.3(CENPE):c.80C>T (p.Ala27Val) rs533108216 0.00021
NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg) rs200330029 0.00021
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg) rs143405268 0.00021
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr) rs142041381 0.00021
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_002617.4(PEX10):c.*310G>A rs539850807 0.00021
NM_002617.4(PEX10):c.776+8C>T rs370594705 0.00021
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002857.4(PEX19):c.*2224G>T rs573966291 0.00021
NM_002857.4(PEX19):c.*2536A>G rs141829599 0.00021
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro) rs369234115 0.00021
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His) rs142885301 0.00021
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 0.00021
NM_004525.3(LRP2):c.3355C>A (p.His1119Asn) rs183570870 0.00021
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr) rs142266106 0.00021
NM_004525.3(LRP2):c.7384_7390+8dup rs587780382 0.00021
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_004937.3(CTNS):c.*129C>T rs746209035 0.00021
NM_004999.4(MYO6):c.*2996A>G rs536099586 0.00021
NM_004999.4(MYO6):c.262-9C>T rs187811833 0.00021
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile) rs16829208 0.00021
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=) rs1215807447 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn) rs202092043 0.00021
NM_005708.5(GPC6):c.*3497G>A rs563025003 0.00021
NM_005708.5(GPC6):c.-100G>A rs535904928 0.00021
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_006185.4(NUMA1):c.-103+13G>T rs185830107 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006846.4(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688 0.00021
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) rs199793551 0.00021
NM_006892.4(DNMT3B):c.*1132C>T rs756101113 0.00021
NM_006892.4(DNMT3B):c.1538C>T (p.Ala513Val) rs116943489 0.00021
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_014028.4(OSTM1):c.*1085T>G rs543280303 0.00021
NM_014042.3(ANAPC15):c.*105C>T rs186960319 0.00021
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) rs370264590 0.00021
NM_014956.5(CEP164):c.1152A>G (p.Gln384=) rs368171178 0.00021
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_015910.7(WDPCP):c.75+13C>T rs182759221 0.00021
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp) rs201178873 0.00021
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) rs201026034 0.00021
NM_016239.4(MYO15A):c.7266C>T (p.Pro2422=) rs201610682 0.00021
NM_016464.5(TMEM138):c.-169C>T rs553390222 0.00021
NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn) rs144008984 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) rs1055478673 0.00021
NM_017777.4(MKS1):c.*603T>G rs578200260 0.00021
NM_017777.4(MKS1):c.-15C>G rs541448010 0.00021
NM_018136.5(ASPM):c.523G>A (p.Val175Ile) rs201934616 0.00021
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) rs147466865 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr) rs200856894 0.00021
NM_018249.6(CDK5RAP2):c.2376-11T>C rs374737473 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_020458.4(TTC7A):c.1203+4C>T rs147621000 0.00021
NM_020458.4(TTC7A):c.433G>A (p.Ala145Thr) rs201163893 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_020964.3(EPG5):c.4154C>G (p.Ser1385Cys) rs200040634 0.00021
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser) rs199718702 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_021942.6(TRAPPC11):c.1703G>A (p.Arg568Gln) rs147516606 0.00021
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) rs142222368 0.00021
NM_022124.6(CDH23):c.*56G>A rs756856139 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn) rs373836924 0.00021
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918 0.00021
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352 0.00021
NM_022124.6(CDH23):c.8901T>G (p.Arg2967=) rs375720093 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) rs200518541 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_024649.5(BBS1):c.432+5A>G rs373923317 0.00021
NM_025074.7(FRAS1):c.10724T>C (p.Ile3575Thr) rs202198985 0.00021
NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=) rs373149321 0.00021
NM_025074.7(FRAS1):c.7238T>C (p.Ile2413Thr) rs199596557 0.00021
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) rs200178519 0.00021
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_138691.3(TMC1):c.-252C>T rs541857536 0.00021
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_144508.5(KNL1):c.1393A>C (p.Asn465His) rs541346845 0.00021
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291 0.00021
NM_145861.4(EDARADD):c.*1250C>T rs1018635371 0.00021
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341 0.00021
NM_153717.3(EVC):c.*302G>A rs560005309 0.00021
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) rs149626732 0.00021
NM_173551.5(ANKS6):c.643G>A (p.Ala215Thr) rs199530402 0.00021
NM_178170.3(NEK8):c.*381C>T rs540677227 0.00021
NM_181741.4(ORC4):c.287A>G (p.Gln96Arg) rs138317624 0.00021
NM_182961.4(SYNE1):c.*101C>T rs571719631 0.00021
NM_182961.4(SYNE1):c.*186G>A rs766338162 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072 0.00021
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359 0.00021
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
NM_201253.3(CRB1):c.430T>G (p.Phe144Val) rs62636262 0.00021
NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys) rs200034893 0.00021
NM_201384.3(PLEC):c.11222G>A (p.Arg3741Gln) rs373215657 0.00021
NM_201384.3(PLEC):c.13528G>A (p.Gly4510Ser) rs560077433 0.00021
NM_201384.3(PLEC):c.1613G>A (p.Arg538His) rs200864968 0.00021
NM_201384.3(PLEC):c.1771C>T (p.Arg591Cys) rs376215217 0.00021
NM_201384.3(PLEC):c.6488C>G (p.Ala2163Gly) rs201845757 0.00021
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg) rs201928401 0.00021
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys) rs200128670 0.00021
NM_201384.3(PLEC):c.8411G>A (p.Arg2804His) rs376796173 0.00021
NM_201384.3(PLEC):c.885G>A (p.Met295Ile) rs201041690 0.00021
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val) rs183230983 0.00021
NM_203486.3(DLL3):c.1759-162A>G rs886054434 0.00021
NM_207361.6(FREM2):c.1191C>T (p.Pro397=) rs199831729 0.00021
NM_207361.6(FREM2):c.1677G>C (p.Gln559His) rs199921323 0.00021
NR_003051.3(RMRP):n.270T>C rs551655682 0.00021
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000123.4(ERCC5):c.2190T>C (p.Asp730=) rs148103512 0.00020
NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser) rs778333931 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000211.5(ITGB2):c.-8C>T rs886057120 0.00020
NM_000211.5(ITGB2):c.805T>C (p.Phe269Leu) rs151274588 0.00020
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000260.4(MYO7A):c.19-9C>T rs368452072 0.00020
NM_000271.5(NPC1):c.*191C>A rs534888589 0.00020
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558 0.00020
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr) rs115186444 0.00020
NM_000337.6(SGCD):c.*7231A>T rs766236284 0.00020
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536 0.00020
NM_000414.3(HSD17B4):c.-130C>T rs536737707 0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) rs371602600 0.00020
NM_000553.6(WRN):c.3139-9T>C rs377226126 0.00020
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys) rs115738510 0.00020
NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=) rs371418239 0.00020
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001098484.3(SLC4A4):c.*2447A>G rs972565063 0.00020
NM_001127671.2(LIFR):c.*984T>C rs558681338 0.00020
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu) rs562206142 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001145809.2(MYH14):c.*337C>T rs753307318 0.00020
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) rs780969097 0.00020
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) rs753810786 0.00020
NM_001256317.3(TMPRSS3):c.-78T>A rs557132994 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu) rs570730533 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001286445.3(RIPOR2):c.1164+482A>G rs745360194 0.00020
NM_001367624.2(ZNF469):c.*617C>T rs886052422 0.00020
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile) rs202215158 0.00020
NM_002241.5(KCNJ10):c.*2649G>A rs886045399 0.00020
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) rs140371771 0.00020
NM_002473.6(MYH9):c.*978A>G rs886057472 0.00020
NM_002473.6(MYH9):c.1098C>T (p.Pro366=) rs537679678 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_004100.5(EYA4):c.*2377C>T rs1205497819 0.00020
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004999.4(MYO6):c.*3660C>T rs774736565 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_005708.5(GPC6):c.*3623G>A rs577207799 0.00020
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742 0.00020
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_013382.7(POMT2):c.*1252C>A rs569143920 0.00020
NM_014053.4(FLVCR1):c.*2189G>A rs183774878 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_015294.6(TRIM37):c.*622T>C rs886053172 0.00020
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile) rs776917693 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_017755.6(NSUN2):c.*16C>T rs368107079 0.00020
NM_018075.5(ANO10):c.473-6G>A rs184416837 0.00020
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser) rs147830520 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018249.6(CDK5RAP2):c.3026-4G>A rs187715637 0.00020
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) rs145706266 0.00020
NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln) rs147512254 0.00020
NM_020964.3(EPG5):c.3055A>G (p.Ile1019Val) rs373402310 0.00020
NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys) rs201507415 0.00020
NM_021252.5(RAB18):c.*1141T>C rs751708158 0.00020
NM_021252.5(RAB18):c.*3729G>C rs530960985 0.00020
NM_022098.4(XPNPEP3):c.*419A>T rs749468351 0.00020
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln) rs186990940 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695 0.00020
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_024649.5(BBS1):c.*522C>T rs886048528 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala) rs368163419 0.00020
NM_033028.5(BBS4):c.*783A>G rs775532255 0.00020
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe) rs760909426 0.00020
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_138691.3(TMC1):c.-124T>C rs533837914 0.00020
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_144508.5(KNL1):c.4980G>C (p.Lys1660Asn) rs201366681 0.00020
NM_144991.3(TSPEAR):c.1856+19C>T rs182590005 0.00020
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly) rs199553497 0.00020
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe) rs200373010 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_182961.4(SYNE1):c.22346+6G>T rs368678916 0.00020
NM_201384.3(PLEC):c.1179T>G (p.Cys393Trp) rs782237146 0.00020
NM_201384.3(PLEC):c.11818G>A (p.Val3940Met) rs534537112 0.00020
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_207361.6(FREM2):c.9418A>G (p.Ser3140Gly) rs199853872 0.00020
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000057.4(BLM):c.-65C>T rs577293550 0.00019
NM_000083.3(CLCN1):c.2172+3G>A rs758964825 0.00019
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) rs368884003 0.00019
NM_000163.5(GHR):c.267-3T>C rs201917287 0.00019
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000211.5(ITGB2):c.1146C>T (p.Tyr382=) rs61737080 0.00019
NM_000211.5(ITGB2):c.1274C>T (p.Ser425Leu) rs375122306 0.00019
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=) rs782195221 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser) rs376348438 0.00019
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670 0.00019
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573 0.00019
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_000277.3(PAH):c.*272C>T rs928972999 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375 0.00019
NM_000329.3(RPE65):c.*886T>C rs111811751 0.00019
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000337.6(SGCD):c.*5907T>C rs766068819 0.00019
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000370.3(TTPA):c.*364A>T rs559345463 0.00019
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_000553.6(WRN):c.1565A>G (p.Asp522Gly) rs1484276133 0.00019
NM_000553.6(WRN):c.2146C>T (p.Arg716Cys) rs201990558 0.00019
NM_000553.6(WRN):c.3731C>T (p.Thr1244Met) rs370299361 0.00019
NM_000553.6(WRN):c.835C>T (p.Arg279Trp) rs199923241 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629 0.00019
NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp) rs143479850 0.00019
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp) rs200771789 0.00019
NM_001048166.1(STIL):c.227C>T (p.Ser76Leu) rs147160336 0.00019
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr) rs141432759 0.00019
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_001083961.2(WDR62):c.4312T>A (p.Leu1438Met) rs138814793 0.00019
NM_001098484.3(SLC4A4):c.*1065A>C rs886059602 0.00019
NM_001098484.3(SLC4A4):c.*217A>G rs182103477 0.00019
NM_001098484.3(SLC4A4):c.*2995G>A rs1019870008 0.00019
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001103146.3(GIGYF2):c.532+5271_532+5273del rs774385692 0.00019
NM_001127671.2(LIFR):c.*2464C>G rs140583327 0.00019
NM_001127671.2(LIFR):c.*517T>C rs889691332 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr) rs745746091 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001146079.2(CLDN14):c.-634G>A rs886057056 0.00019
NM_001184.4(ATR):c.4592A>G (p.His1531Arg) rs200070057 0.00019
NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) rs200018103 0.00019
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941 0.00019
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686 0.00019
NM_001256317.3(TMPRSS3):c.*334G>A rs182472675 0.00019
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu) rs373446383 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala) rs780629996 0.00019
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.31922C>T (p.Pro10641Leu) rs773886361 0.00019
NM_001267550.2(TTN):c.32780A>G (p.Lys10927Arg) rs373657520 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala) rs758207460 0.00019
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.3278A>G (p.Asp1093Gly) rs374338519 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) rs377325998 0.00019
NM_001329943.3(KIAA0586):c.411-1363G>C rs570489575 0.00019
NM_001351132.2(PEX5):c.*495G>A rs776371289 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001374623.1(PNPLA1):c.1595+414C>T rs886061377 0.00019
NM_001378454.1(ALMS1):c.*209A>G rs573978557 0.00019
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys) rs764823951 0.00019
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val) rs142517429 0.00019
NM_001379286.1(ZNF423):c.2683G>A (p.Gly895Ser) rs147413663 0.00019
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) rs199901120 0.00019
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala) rs199834829 0.00019
NM_001384474.1(LOXHD1):c.3013A>C (p.Asn1005His) rs552955487 0.00019
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) rs7672497 0.00019
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00019
NM_002180.3(IGHMBP2):c.*117G>A rs745828352 0.00019
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser) rs200708284 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002241.5(KCNJ10):c.*1788C>T rs550315680 0.00019
NM_002241.5(KCNJ10):c.*3170G>A rs886045395 0.00019
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp) rs150013302 0.00019
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln) rs150064487 0.00019
NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys) rs200127858 0.00019
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met) rs11550620 0.00019
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr) rs199794467 0.00019
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val) rs376164225 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_002617.4(PEX10):c.220G>A (p.Val74Ile) rs768438726 0.00019
NM_002855.5(NECTIN1):c.480G>A (p.Lys160=) rs145986556 0.00019
NM_002855.5(NECTIN1):c.79+4A>G rs542760632 0.00019
NM_003619.4(PRSS12):c.1490-15T>C rs746343292 0.00019
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg) rs139833696 0.00019
NM_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_004407.4(DMP1):c.*527G>A rs554759690 0.00019
NM_004407.4(DMP1):c.55-3T>G rs181490843 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=) rs150464677 0.00019
NM_004525.3(LRP2):c.1555C>T (p.Pro519Ser) rs147981204 0.00019
NM_004525.3(LRP2):c.2321-3T>C rs529050791 0.00019
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004560.4(ROR2):c.871A>G (p.Met291Val) rs150364724 0.00019
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_004813.4(PEX16):c.832A>G (p.Thr278Ala) rs765797303 0.00019
NM_004830.4(MED23):c.235C>T (p.Leu79Phe) rs151031376 0.00019
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) rs776456569 0.00019
NM_004937.3(CTNS):c.*431C>T rs886052868 0.00019
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736 0.00019
NM_005219.5(DIAPH1):c.300+12A>G rs201535699 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005522.5(HOXA1):c.*980C>G rs777986191 0.00019
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp) rs145185113 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_005982.4(SIX1):c.*1080A>T rs931132506 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=) rs148391697 0.00019
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr) rs200461035 0.00019
NM_006892.4(DNMT3B):c.-303G>A rs909287301 0.00019
NM_006895.3(HNMT):c.325G>A (p.Glu109Lys) rs528223406 0.00019
NM_006996.3(SLC19A2):c.*638G>A rs757466309 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) rs191692092 0.00019
NM_012210.4(TRIM32):c.*1350A>C rs1055184514 0.00019
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe) rs138699534 0.00019
NM_012210.4(TRIM32):c.578G>A (p.Arg193His) rs373853273 0.00019
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194 0.00019
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00019
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_013382.7(POMT2):c.*2053C>A rs759715686 0.00019
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_014797.3(ZBTB24):c.1154A>G (p.Lys385Arg) rs371071024 0.00019
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp) rs563684894 0.00019
NM_015102.5(NPHP4):c.2230G>A (p.Val744Met) rs199712626 0.00019
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_015404.4(WHRN):c.*187A>G rs779279060 0.00019
NM_015404.4(WHRN):c.*188A>T rs549537695 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966 0.00019
NM_015665.6(AAAS):c.996+12C>T rs200312077 0.00019
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269 0.00019
NM_016239.4(MYO15A):c.*497G>C rs772855706 0.00019
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) rs148993025 0.00019
NM_017739.4(POMGNT1):c.120+3A>G rs543271070 0.00019
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp) rs140467698 0.00019
NM_017791.3(FLVCR2):c.*155C>T rs562468033 0.00019
NM_018075.5(ANO10):c.1864A>G (p.Met622Val) rs141806947 0.00019
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00019
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_018249.6(CDK5RAP2):c.3679A>T (p.Ile1227Phe) rs139203975 0.00019
NM_018249.6(CDK5RAP2):c.5499T>G (p.Phe1833Leu) rs189396476 0.00019
NM_018389.5(SLC35C1):c.*1418C>A rs575219836 0.00019
NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile) rs200146272 0.00019
NM_018718.3(CEP41):c.*2781A>G rs782043938 0.00019
NM_018718.3(CEP41):c.*4391G>A rs782450438 0.00019
NM_018972.4(GDAP1):c.*18C>T rs147945220 0.00019
NM_020631.5(PLEKHG5):c.*1186A>G rs540290288 0.00019
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591 0.00019
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly) rs139352103 0.00019
NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val) rs369984684 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000 0.00019
NM_021252.5(RAB18):c.*1842A>G rs758153438 0.00019
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met) rs139113789 0.00019
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn) rs767667188 0.00019
NM_022098.4(XPNPEP3):c.*6105G>A rs183787483 0.00019
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=) rs151167805 0.00019
NM_022124.6(CDH23):c.-353C>G rs886047121 0.00019
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met) rs371125497 0.00019
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_024596.5(MCPH1):c.1825+14C>G rs2583 0.00019
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=) rs200401940 0.00019
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) rs201231900 0.00019
NM_024649.5(BBS1):c.-3A>G rs549210746 0.00019
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_024753.5(TTC21B):c.-24C>T rs554218980 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=) rs148349860 0.00019
NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg) rs375115788 0.00019
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr) rs201740573 0.00019
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu) rs376122558 0.00019
NM_025074.7(FRAS1):c.8985C>T (p.His2995=) rs201241555 0.00019
NM_025114.4(CEP290):c.-147A>T rs753567406 0.00019
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_031885.3(BBS2):c.-190G>C rs555974619 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_032119.4(ADGRV1):c.10550-7C>T rs191228562 0.00019
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) rs759908554 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_032575.3(GLIS2):c.*199G>A rs766877335 0.00019
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256 0.00019
NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg) rs374611192 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_133378.4(TTN):c.19928-7C>T rs771244164 0.00019
NM_138694.4(PKHD1):c.*2922T>C rs146856769 0.00019
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809 0.00019
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537 0.00019
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_144508.5(KNL1):c.-17-15G>A rs186815033 0.00019
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) rs138123405 0.00019
NM_153717.3(EVC):c.*3170T>C rs886059519 0.00019
NM_153717.3(EVC):c.-163G>A rs989585218 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val) rs150814357 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807 0.00019
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr) rs149744490 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_182961.4(SYNE1):c.7238-11T>C rs200802315 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_201384.3(PLEC):c.10591G>A (p.Val3531Met) rs201273543 0.00019
NM_201384.3(PLEC):c.11351A>T (p.Gln3784Leu) rs372123082 0.00019
NM_201384.3(PLEC):c.11437C>T (p.Arg3813Cys) rs201666443 0.00019
NM_201384.3(PLEC):c.3010G>A (p.Val1004Met) rs201782280 0.00019
NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) rs782581787 0.00019
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00019
NM_201384.3(PLEC):c.7073C>T (p.Ala2358Val) rs782367691 0.00019
NM_201384.3(PLEC):c.8227G>A (p.Val2743Met) rs781889659 0.00019
NM_201384.3(PLEC):c.9580G>A (p.Glu3194Lys) rs529809254 0.00019
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_207361.6(FREM2):c.*4733T>C rs776479793 0.00019
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00019
NM_207361.6(FREM2):c.4975G>A (p.Ala1659Thr) rs114440488 0.00019
NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro) rs140937193 0.00019
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu) rs745908606 0.00019
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621 0.00018
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000163.5(GHR):c.814A>G (p.Ile272Val) rs35040971 0.00018
NM_000243.3(MEFV):c.*467_*469del rs746257932 0.00018
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) rs752973530 0.00018
NM_000260.4(MYO7A):c.813C>T (p.Gly271=) rs781810349 0.00018
NM_000286.3(PEX12):c.-434A>C rs771210303 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000370.3(TTPA):c.204+6C>T rs574780098 0.00018
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr) rs374606907 0.00018
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 0.00018
NM_000553.6(WRN):c.1531G>C (p.Asp511His) rs368413625 0.00018
NM_001017420.3(ESCO2):c.*697G>C rs1016816951 0.00018
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu) rs377023417 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001080516.2(GRXCR2):c.580G>A (p.Glu194Lys) rs367826984 0.00018
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) rs764208388 0.00018
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) rs199677396 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser) rs141505120 0.00018
NM_001254.4(CDC6):c.*353T>G rs186404954 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) rs72650020 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln) rs1479390801 0.00018
NM_001267550.2(TTN):c.38123-8C>A rs1481421931 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser) rs776899398 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.84968A>T (p.Tyr28323Phe) rs1285180382 0.00018
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) rs374612925 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) rs376338487 0.00018
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val) rs200944504 0.00018
NM_001378615.1(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129 0.00018
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) rs376549634 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_002857.4(PEX19):c.*1980T>C rs372976790 0.00018
NM_002857.4(PEX19):c.*2413C>T rs183164292 0.00018
NM_002906.3(RDX):c.-305G>T rs886047657 0.00018
NM_002906.4(RDX):c.*1290A>G rs867786685 0.00018
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_003104.6(SORD):c.935C>T (p.Ala312Val) rs201398152 0.00018
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln) rs138640682 0.00018
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) rs537920451 0.00018
NM_004525.3(LRP2):c.10282A>G (p.Arg3428Gly) rs147267007 0.00018
NM_004525.3(LRP2):c.7721G>C (p.Arg2574Thr) rs149675661 0.00018
NM_004525.3(LRP2):c.8073C>T (p.His2691=) rs146772976 0.00018
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter) rs578143841 0.00018
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp) rs560024236 0.00018
NM_004937.3(CTNS):c.697G>A (p.Val233Met) rs201058200 0.00018
NM_004999.4(MYO6):c.*1889A>G rs189155544 0.00018
NM_004999.4(MYO6):c.*3834G>A rs886061779 0.00018
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln) rs144755776 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00018
NM_006892.4(DNMT3B):c.*654G>A rs967384538 0.00018
NM_006892.4(DNMT3B):c.307-15C>G rs150718732 0.00018
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00018
NM_014028.4(OSTM1):c.*1166A>G rs557667717 0.00018
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu) rs143370558 0.00018
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg) rs77118839 0.00018
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys) rs534816625 0.00018
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=) rs367627564 0.00018
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=) rs376387472 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val) rs199805789 0.00018
NM_018136.5(ASPM):c.*61G>A rs111463579 0.00018
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg) rs201927596 0.00018
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_018319.4(TDP1):c.*1203G>T rs531417402 0.00018
NM_018319.4(TDP1):c.*228T>G rs954549405 0.00018
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
NM_022124.6(CDH23):c.68-3C>T rs142456469 0.00018
NM_022124.6(CDH23):c.9633+14G>A rs376672264 0.00018
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024753.5(TTC21B):c.-18C>T rs187707893 0.00018
NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg) rs376808560 0.00018
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn) rs370629874 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) rs542237999 0.00018
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_032193.4(RNASEH2C):c.*1977C>T rs886048482 0.00018
NM_033064.5(ATCAY):c.*2289C>T rs1025056968 0.00018
NM_138694.4(PKHD1):c.3241C>T (p.Arg1081Cys) rs200986136 0.00018
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_144508.5(KNL1):c.250+4A>G rs201508618 0.00018
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys) rs200250398 0.00018
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_176824.3(BBS7):c.*1324G>A rs181687808 0.00018
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val) rs138350962 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723 0.00018
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val) rs143467834 0.00018
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=) rs373568741 0.00018
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) rs149078926 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_201384.3(PLEC):c.6493G>A (p.Ala2165Thr) rs371119003 0.00018
NM_201384.3(PLEC):c.8497G>A (p.Gly2833Ser) rs782099953 0.00018
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612 0.00018
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) rs368058316 0.00018
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn) rs144892841 0.00018
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile) rs375225649 0.00018
NM_213599.3(ANO5):c.553G>C (p.Glu185Gln) rs140381407 0.00018
NM_000023.4(SGCA):c.172G>C (p.Val58Leu) rs141953249 0.00017
NM_000082.4(ERCC8):c.173+9A>G rs143356896 0.00017
NM_000123.4(ERCC5):c.-156C>A rs886049939 0.00017
NM_000123.4(ERCC5):c.1195G>A (p.Glu399Lys) rs4150315 0.00017
NM_000124.4(ERCC6):c.2925-8T>A rs147637331 0.00017
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000165.5(GJA1):c.1132G>A (p.Asp378Asn) rs553879521 0.00017
NM_000211.4(ITGB2):c.-228G>A rs915029945 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) rs375968860 0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val) rs144702307 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_000334.4(SCN4A):c.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000370.3(TTPA):c.*554C>T rs576595274 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262 0.00017
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343 0.00017
NM_000441.1(SLC26A4):c.-139C>T rs879914861 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.919-18T>G rs767147359 0.00017
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile) rs141563618 0.00017
NM_000553.6(WRN):c.446G>A (p.Arg149His) rs61761625 0.00017
NM_001013693.3(LDLRAD2):c.*1081C>T rs568643216 0.00017
NM_001040167.2(LFNG):c.284C>T (p.Ala95Val) rs765904263 0.00017
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001077365.2(POMT1):c.*614G>A rs373680261 0.00017
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001098484.3(SLC4A4):c.*734G>A rs768817613 0.00017
NM_001099287.1(NIPAL4):c.-98C>T rs886766905 0.00017
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301 0.00017
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001194998.2(CEP152):c.2018+9T>C rs587783417 0.00017
NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu) rs912754275 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00017
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met) rs779238709 0.00017
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His) rs370048456 0.00017
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) rs727504200 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His) rs771668359 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu) rs200308639 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile) rs779619858 0.00017
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001379286.1(ZNF423):c.1903A>G (p.Ile635Val) rs142414666 0.00017
NM_001379286.1(ZNF423):c.425C>T (p.Thr142Met) rs777988344 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val) rs370779024 0.00017
NM_001692.4(ATP6V1B1):c.517G>A (p.Val173Ile) rs146293474 0.00017
NM_002473.6(MYH9):c.*802T>G rs528245823 0.00017
NM_002618.4(PEX13):c.*3126A>G rs745626475 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002855.5(NECTIN1):c.*3629C>G rs538935498 0.00017
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00017
NM_003619.4(PRSS12):c.*1141T>C rs574310044 0.00017
NM_004100.5(EYA4):c.1617-11C>T rs118166702 0.00017
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) rs369872091 0.00017
NM_004407.4(DMP1):c.996C>G (p.Asn332Lys) rs200882371 0.00017
NM_004525.3(LRP2):c.4691+15T>A rs202134501 0.00017
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp) rs767624302 0.00017
NM_004999.4(MYO6):c.*2346A>G rs745897280 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_005199.5(CHRNG):c.426G>A (p.Pro142=) rs375894671 0.00017
NM_005219.5(DIAPH1):c.301-5C>T rs190481949 0.00017
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) rs147966644 0.00017
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_005708.5(GPC6):c.*2455C>T rs890586055 0.00017
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006208.3(ENPP1):c.*1105T>C rs534792138 0.00017
NM_006208.3(ENPP1):c.*910C>G rs180843359 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014780.5(CUL7):c.2819G>A (p.Arg940His) rs201130952 0.00017
NM_014780.5(CUL7):c.5093G>A (p.Arg1698Gln) rs541161018 0.00017
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) rs141305214 0.00017
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) rs148790468 0.00017
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu) rs559070007 0.00017
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys) rs753614257 0.00017
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) rs373882420 0.00017
NM_015662.3(IFT172):c.2976-3C>T rs371847154 0.00017
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) rs932191004 0.00017
NM_017433.5(MYO3A):c.4730+11A>C rs375717548 0.00017
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met) rs377660409 0.00017
NM_018075.5(ANO10):c.236T>G (p.Met79Arg) rs201275096 0.00017
NM_018249.6(CDK5RAP2):c.3002C>T (p.Thr1001Met) rs145293519 0.00017
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) rs141387488 0.00017
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) rs148927677 0.00017
NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile) rs200898204 0.00017
NM_020458.4(TTC7A):c.71G>C (p.Gly24Ala) rs751550092 0.00017
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_020661.4(AICDA):c.*1173C>T rs192088951 0.00017
NM_020921.4(NIN):c.6275C>T (p.Thr2092Ile) rs201013063 0.00017
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile) rs370311674 0.00017
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_022124.6(CDH23):c.9510+14G>A rs188563959 0.00017
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val) rs199795649 0.00017
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp) rs367690496 0.00017
NM_025074.7(FRAS1):c.2647G>A (p.Val883Met) rs377068014 0.00017
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) rs200166354 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly) rs200541858 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268 0.00017
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_130384.3(ATRIP):c.*583A>G rs767364235 0.00017
NM_133379.5(TTN):c.13586C>G (p.Ala4529Gly) rs138927584 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_145861.4(EDARADD):c.*2052C>T rs759188384 0.00017
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) rs150812168 0.00017
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys) rs148629905 0.00017
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu) rs187146687 0.00017
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564 0.00017
NM_153676.4(USH1C):c.*117C>G rs534567723 0.00017
NM_153704.6(TMEM67):c.*279T>C rs752060945 0.00017
NM_153717.3(EVC):c.*1573T>A rs958649706 0.00017
NM_170784.3(MKKS):c.*112C>T rs551220022 0.00017
NM_174916.3(UBR1):c.947G>A (p.Arg316His) rs147396426 0.00017
NM_182548.4(LHFPL5):c.*431C>T rs866312688 0.00017
NM_182961.4(SYNE1):c.1463+9A>G rs368846118 0.00017
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) rs140494140 0.00017
NM_201384.3(PLEC):c.3142G>A (p.Glu1048Lys) rs199523622 0.00017
NM_201384.3(PLEC):c.4652G>A (p.Arg1551His) rs374991369 0.00017
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) rs371673069 0.00017
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe) rs572290101 0.00017
NM_206933.4(USH2A):c.4627+161T>C rs771693146 0.00017
NM_207361.6(FREM2):c.*1121G>A rs139762843 0.00017
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000070.3(CAPN3):c.*443A>C rs886051152 0.00016
NM_000070.3(CAPN3):c.*534T>C rs772498665 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000208.4(INSR):c.*1573C>T rs549250341 0.00016
NM_000211.5(ITGB2):c.1324C>T (p.Leu442Phe) rs750853525 0.00016
NM_000231.3(SGCG):c.196-3C>T rs765273430 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000232.5(SGCB):c.*18C>G rs191486389 0.00016
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000254.3(MTR):c.13C>A (p.Leu5Ile) rs139083778 0.00016
NM_000260.4(MYO7A):c.1635T>C (p.His545=) rs376286438 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000277.3(PAH):c.*79G>A rs569495604 0.00016
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00016
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp) rs150852515 0.00016
NM_000318.3(PEX2):c.*1400A>G rs1002618013 0.00016
NM_000318.3(PEX2):c.*2518C>T rs886063124 0.00016
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000370.3(TTPA):c.*735T>C rs886063064 0.00016
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn) rs143717984 0.00016
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000441.2(SLC26A4):c.*2237A>G rs562706485 0.00016
NM_000441.2(SLC26A4):c.2089+9A>G rs369504960 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000466.3(PEX1):c.-19A>G rs368326503 0.00016
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln) rs773206107 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000553.6(WRN):c.3687+931A>G rs772689996 0.00016
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_000557.5(GDF5):c.-30C>A rs375024998 0.00016
NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met) rs759506026 0.00016
NM_000782.5(CYP24A1):c.-385G>A rs746437890 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser) rs138646734 0.00016
NM_001038603.3(MARVELD2):c.1555-13A>G rs373638063 0.00016
NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser) rs149958643 0.00016
NM_001042702.5(PJVK):c.-201C>G rs796484753 0.00016
NM_001042702.5(PJVK):c.794G>A (p.Arg265His) rs199841343 0.00016
NM_001044385.3(TMEM237):c.*3123T>A rs866645983 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys) rs147480076 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln) rs372168003 0.00016
NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His) rs201002003 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) rs201053854 0.00016
NM_001083961.2(WDR62):c.3724G>A (p.Val1242Met) rs143493857 0.00016
NM_001098484.3(SLC4A4):c.*1822del rs567579582 0.00016
NM_001098484.3(SLC4A4):c.633G>A (p.Lys211=) rs145739451 0.00016
NM_001099287.2(NIPAL4):c.*1679C>T rs886060349 0.00016
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001127649.3(PEX26):c.*1152G>C rs886057252 0.00016
NM_001127649.3(PEX26):c.-381C>T rs561094254 0.00016
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) rs371593605 0.00016
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=) rs551942312 0.00016
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) rs369170272 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581 0.00016
NM_001134831.2(AHI1):c.-214C>T rs183265971 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001139.3(ALOX12B):c.1040C>T (p.Pro347Leu) rs145726040 0.00016
NM_001139.3(ALOX12B):c.144G>A (p.Gly48=) rs146260899 0.00016
NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=) rs373919106 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001184.4(ATR):c.1258C>G (p.Leu420Val) rs377186178 0.00016
NM_001194998.2(CEP152):c.2826C>T (p.Asn942=) rs200733310 0.00016
NM_001194998.2(CEP152):c.3085A>G (p.Met1029Val) rs201172776 0.00016
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu) rs199917740 0.00016
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) rs180716474 0.00016
NM_001256317.3(TMPRSS3):c.*245C>T rs755324540 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys) rs377600383 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.10535T>C (p.Val3512Ala) rs200918396 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly) rs376000381 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr) rs200321239 0.00016
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu) rs367720476 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln) rs575837567 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys) rs191549948 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) rs375211424 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln) rs369716125 0.00016
NM_001329943.3(KIAA0586):c.411-1369A>G rs1044844835 0.00016
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys) rs767347186 0.00016
NM_001366722.1(GRIP1):c.*667C>T rs191784180 0.00016
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) rs201410285 0.00016
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092 0.00016
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly) rs757791330 0.00016
NM_001379180.1(ESRRB):c.*2373G>A rs186401013 0.00016
NM_001379180.1(ESRRB):c.1176C>T (p.His392=) rs370193367 0.00016
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) rs377385599 0.00016
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) rs374262758 0.00016
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385 0.00016
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384474.1(LOXHD1):c.1639C>T (p.Arg547Cys) rs113444922 0.00016
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670 0.00016
NM_001393500.2(TOMT):c.550C>T (p.Arg184Trp) rs72953778 0.00016
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr) rs570166217 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589 0.00016
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002241.5(KCNJ10):c.*3617A>T rs754184905 0.00016
NM_002241.5(KCNJ10):c.*73C>T rs184428585 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002292.4(LAMB2):c.1558C>T (p.Arg520Cys) rs36050330 0.00016
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) rs376785056 0.00016
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002617.4(PEX10):c.424C>T (p.Arg142Trp) rs372914003 0.00016
NM_002618.4(PEX13):c.*2159T>C rs886056206 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=) rs188936128 0.00016
NM_002857.4(PEX19):c.845C>T (p.Ala282Val) rs373092548 0.00016
NM_003193.5(TBCE):c.446C>G (p.Ala149Gly) rs150187679 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004153.4(ORC1):c.2382G>A (p.Thr794=) rs146844078 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004407.4(DMP1):c.313G>A (p.Asp105Asn) rs142880465 0.00016
NM_004415.4(DSP):c.-157G>A rs886061742 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004525.3(LRP2):c.10203G>A (p.Thr3401=) rs760898762 0.00016
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=) rs140195786 0.00016
NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg) rs144054579 0.00016
NM_004525.3(LRP2):c.5959G>A (p.Asp1987Asn) rs77017461 0.00016
NM_004525.3(LRP2):c.7801T>C (p.Tyr2601His) rs554748412 0.00016
NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His) rs373727071 0.00016
NM_004744.5(LRAT):c.-2+7A>C rs886059161 0.00016
NM_004813.4(PEX16):c.726G>A (p.Ser242=) rs200414298 0.00016
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180 0.00016
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636 0.00016
NM_005219.5(DIAPH1):c.*870G>A rs558698891 0.00016
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_005422.4(TECTA):c.420T>C (p.Ser140=) rs141090151 0.00016
NM_005422.4(TECTA):c.5586+12A>G rs199723136 0.00016
NM_005522.5(HOXA1):c.435C>T (p.His145=) rs200448150 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005708.5(GPC6):c.*1792G>A rs184597485 0.00016
NM_005708.5(GPC6):c.-69C>T rs533965995 0.00016
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp) rs139397145 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006208.3(ENPP1):c.*637A>C rs552323303 0.00016
NM_006721.4(ADK):c.*349T>C rs896781492 0.00016
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser) rs201741917 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_014028.4(OSTM1):c.*2035A>G rs548119179 0.00016
NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu) rs531848254 0.00016
NM_014321.4(ORC6):c.*232A>T rs531879095 0.00016
NM_014321.4(ORC6):c.*602A>G rs779826723 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014363.6(SACS):c.*394G>A rs956360764 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567 0.00016
NM_014363.6(SACS):c.1444C>G (p.Leu482Val) rs141487769 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys) rs199936012 0.00016
NM_014425.5(INVS):c.1459A>C (p.Lys487Gln) rs398124271 0.00016
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp) rs141829168 0.00016
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp) rs200798902 0.00016
NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr) rs201013312 0.00016
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile) rs147414766 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015102.5(NPHP4):c.1048G>A (p.Gly350Ser) rs377155892 0.00016
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln) rs202179978 0.00016
NM_015102.5(NPHP4):c.2035A>G (p.Thr679Ala) rs201642456 0.00016
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met) rs571204647 0.00016
NM_015102.5(NPHP4):c.2781C>T (p.Ala927=) rs199875603 0.00016
NM_015102.5(NPHP4):c.2834G>A (p.Arg945His) rs201531378 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) rs142101613 0.00016
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687 0.00016
NM_015910.7(WDPCP):c.-109G>C rs886056226 0.00016
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509 0.00016
NM_016122.3(CEP83):c.1304T>A (p.Met435Lys) rs185212560 0.00016
NM_016122.3(CEP83):c.1660A>T (p.Asn554Tyr) rs200232390 0.00016
NM_016219.5(MAN1B1):c.*553A>G rs754678273 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser) rs142144025 0.00016
NM_016239.4(MYO15A):c.4207-12C>T rs374937158 0.00016
NM_016239.4(MYO15A):c.4596C>T (p.Thr1532=) rs188269446 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=) rs370091178 0.00016
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016366.3(CABP2):c.143A>C (p.Tyr48Ser) rs760234562 0.00016
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059 0.00016
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala) rs574637594 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met) rs149803315 0.00016
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr) rs201374643 0.00016
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_017791.3(FLVCR2):c.*1633A>C rs552943781 0.00016
NM_017791.3(FLVCR2):c.953-15C>T rs188707531 0.00016
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=) rs150108952 0.00016
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His) rs143092798 0.00016
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00016
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=) rs587783246 0.00016
NM_018136.5(ASPM):c.7179T>A (p.Ala2393=) rs117668001 0.00016
NM_018136.5(ASPM):c.81C>A (p.Pro27=) rs369801034 0.00016
NM_018319.4(TDP1):c.885-15T>C rs375601290 0.00016
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) rs200843978 0.00016
NM_018718.3(CEP41):c.*2786A>C rs782016580 0.00016
NM_018718.3(CEP41):c.*705G>A rs782543502 0.00016
NM_018965.4(TREM2):c.40+13C>T rs145658858 0.00016
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr) rs372143370 0.00016
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428 0.00016
NM_020632.3(ATP6V0A4):c.1669A>T (p.Ile557Phe) rs147301634 0.00016
NM_020661.4(AICDA):c.*554T>C rs886049874 0.00016
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys) rs756006241 0.00016
NM_020964.3(EPG5):c.350C>T (p.Ala117Val) rs372840001 0.00016
NM_020964.3(EPG5):c.494C>T (p.Pro165Leu) rs201402291 0.00016
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met) rs188800635 0.00016
NM_021252.5(RAB18):c.*1845G>T rs186064414 0.00016
NM_022124.6(CDH23):c.1581G>T (p.Gln527His) rs552906420 0.00016
NM_022124.6(CDH23):c.2176+12C>T rs371967419 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.3580-13C>T rs150894638 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.8729T>C (p.Met2910Thr) rs374171450 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_022336.4(EDAR):c.*1798G>C rs756408508 0.00016
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro) rs142987777 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_024596.5(MCPH1):c.2199C>G (p.His733Gln) rs202015253 0.00016
NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val) rs202101904 0.00016
NM_024596.5(MCPH1):c.2499G>T (p.Leu833Phe) rs34009706 0.00016
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00016
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_025074.7(FRAS1):c.4679-9C>T rs541669781 0.00016
NM_025074.7(FRAS1):c.809G>A (p.Arg270His) rs374688692 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile) rs373607885 0.00016
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) rs373315115 0.00016
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) rs1996552 0.00016
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) rs201453118 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_032193.4(RNASEH2C):c.*385C>A rs757672652 0.00016
NM_032193.4(RNASEH2C):c.*440G>C rs544558074 0.00016
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085 0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_033028.5(BBS4):c.1036+6A>G rs374383864 0.00016
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812 0.00016
NM_033064.5(ATCAY):c.*1154G>A rs528605076 0.00016
NM_033064.5(ATCAY):c.*728T>C rs371256803 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00016
NM_138694.4(PKHD1):c.*1381G>C rs573219087 0.00016
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) rs144459969 0.00016
NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg) rs371943910 0.00016
NM_144508.5(KNL1):c.5127A>G (p.Gln1709=) rs753049399 0.00016
NM_144508.5(KNL1):c.5289G>A (p.Thr1763=) rs35818636 0.00016
NM_144508.5(KNL1):c.6043A>C (p.Met2015Leu) rs146571920 0.00016
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536 0.00016
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147196.3(TMIE):c.*671G>A rs868569513 0.00016
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_153676.4(USH1C):c.*427T>C rs1216254308 0.00016
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp) rs143803480 0.00016
NM_153676.4(USH1C):c.2280+6del rs776356060 0.00016
NM_153717.3(EVC):c.*2808C>T rs558094887 0.00016
NM_170784.3(MKKS):c.-477G>T rs886056501 0.00016
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn) rs558813240 0.00016
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812 0.00016
NM_173477.5(USH1G):c.*1018G>A rs780234900 0.00016
NM_174878.3(CLRN1):c.*856G>A rs748935256 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_176824.3(BBS7):c.*513C>T rs577071672 0.00016
NM_176824.3(BBS7):c.*709G>C rs886059050 0.00016
NM_178170.3(NEK8):c.582C>T (p.Tyr194=) rs201773965 0.00016
NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) rs202178128 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.12351+4A>C rs375086691 0.00016
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp) rs375097544 0.00016
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val) rs541395341 0.00016
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys) rs536892317 0.00016
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278 0.00016
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu) rs369236839 0.00016
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala) rs146965313 0.00016
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174 0.00016
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser) rs151300068 0.00016
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val) rs146402274 0.00016
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_198525.3(KIF7):c.208G>A (p.Val70Met) rs761934745 0.00016
NM_201384.3(PLEC):c.1387C>T (p.Arg463Trp) rs201884310 0.00016
NM_201384.3(PLEC):c.2304+5G>A rs781783346 0.00016
NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln) rs371895113 0.00016
NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) rs201465091 0.00016
NM_201384.3(PLEC):c.6650C>T (p.Thr2217Met) rs782254334 0.00016
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys) rs200652637 0.00016
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His) rs552039931 0.00016
NM_201384.3(PLEC):c.8468G>A (p.Arg2823His) rs376887979 0.00016
NM_201384.3(PLEC):c.8981G>A (p.Arg2994His) rs200970115 0.00016
NM_201384.3(PLEC):c.9529G>A (p.Asp3177Asn) rs151050583 0.00016
NM_203486.3(DLL3):c.939G>A (p.Gly313=) rs150100958 0.00016
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.4627+596A>G rs1036513961 0.00016
NM_206933.4(USH2A):c.4627+851A>G rs779885066 0.00016
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392 0.00016
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671 0.00016
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NM_207361.6(FREM2):c.1345C>G (p.Leu449Val) rs190063725 0.00016
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp) rs138416277 0.00016
NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn) rs138539682 0.00016
NM_207361.6(FREM2):c.8172T>A (p.Leu2724=) rs201065518 0.00016
NR_003051.4(RMRP):n.150C>T rs977992022 0.00016
NR_003051.4(RMRP):n.160A>G rs535595484 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val) rs141948992 0.00015
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000124.4(ERCC6):c.*2031A>G rs1050975183 0.00015
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751 0.00015
NM_000161.3(GCH1):c.*1033C>T rs867220379 0.00015
NM_000211.4(ITGB2):c.-101G>A rs1005306661 0.00015
NM_000211.5(ITGB2):c.228C>T (p.Asp76=) rs368629638 0.00015
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) rs369768947 0.00015
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln) rs368862510 0.00015
NM_000271.5(NPC1):c.1153A>G (p.Ser385Gly) rs1373857908 0.00015
NM_000271.5(NPC1):c.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) rs147924545 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808 0.00015
NM_000441.2(SLC26A4):c.*1200G>A rs549659217 0.00015
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala) rs370431965 0.00015
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.2665C>T (p.Leu889Phe) rs61738523 0.00015
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) rs746747614 0.00015
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys) rs778371330 0.00015
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_001039958.2(MESP2):c.597A>G (p.Gly199=) rs778503063 0.00015
NM_001048166.1(STIL):c.3170A>G (p.Asn1057Ser) rs143956189 0.00015
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001098484.3(SLC4A4):c.*1067A>G rs763542144 0.00015
NM_001098484.3(SLC4A4):c.*1202A>G rs367598789 0.00015
NM_001098484.3(SLC4A4):c.*4017C>T rs775900876 0.00015
NM_001099287.1(NIPAL4):c.-24C>A rs768159429 0.00015
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661 0.00015
NM_001127649.3(PEX26):c.*36G>A rs202010734 0.00015
NM_001127671.2(LIFR):c.*6380G>C rs963712767 0.00015
NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys) rs61751712 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001145809.2(MYH14):c.1210+12G>A rs367560074 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001145809.2(MYH14):c.4666G>A (p.Ala1556Thr) rs758725143 0.00015
NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg) rs199583971 0.00015
NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) rs150731625 0.00015
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys) rs368607833 0.00015
NM_001267550.2(TTN):c.37873G>A (p.Val12625Met) rs1336768417 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val) rs372075439 0.00015
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del) rs778364983 0.00015
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581 0.00015
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) rs750969059 0.00015
NM_001366722.1(GRIP1):c.*1287A>T rs544816589 0.00015
NM_001366722.1(GRIP1):c.*4C>T rs367666328 0.00015
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met) rs571909899 0.00015
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) rs375985758 0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) rs958951917 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002473.6(MYH9):c.543G>A (p.Thr181=) rs146514663 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002857.4(PEX19):c.*77del rs771535781 0.00015
NM_003619.4(PRSS12):c.*233G>C rs886059032 0.00015
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) rs371990100 0.00015
NM_004525.3(LRP2):c.7627G>A (p.Val2543Ile) rs149259672 0.00015
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) rs190037522 0.00015
NM_004560.4(ROR2):c.1956G>A (p.Ser652=) rs374939956 0.00015
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853 0.00015
NM_005219.5(DIAPH1):c.*867G>A rs1044198282 0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_005708.5(GPC6):c.-478C>G rs960460306 0.00015
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp) rs370009561 0.00015
NM_005881.4(BCKDK):c.552G>C (p.Lys184Asn) rs774214869 0.00015
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_006005.3(WFS1):c.71G>A (p.Arg24His) rs71524364 0.00015
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_006892.4(DNMT3B):c.1186C>T (p.Pro396Ser) rs138171867 0.00015
NM_012208.4(HARS2):c.1254G>C (p.Gln418His) rs138090816 0.00015
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_014797.3(ZBTB24):c.2078G>A (p.Gly693Asp) rs146770659 0.00015
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) rs745978128 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015102.5(NPHP4):c.2687G>A (p.Arg896Gln) rs372438267 0.00015
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp) rs778505641 0.00015
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_015102.5(NPHP4):c.563C>T (p.Thr188Met) rs200711763 0.00015
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) rs142215302 0.00015
NM_015404.4(WHRN):c.-570C>G rs886073834 0.00015
NM_015404.4(WHRN):c.-581C>T rs886063377 0.00015
NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro) rs373049289 0.00015
NM_015602.4(TOR1AIP1):c.838+3A>G rs139072070 0.00015
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_016239.4(MYO15A):c.2287C>T (p.Arg763Trp) rs754311954 0.00015
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys) rs546203218 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_016239.4(MYO15A):c.9072G>A (p.Gln3024=) rs371857911 0.00015
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_018063.5(HELLS):c.1537A>G (p.Arg513Gly) rs145020994 0.00015
NM_018131.5(CEP55):c.70G>A (p.Glu24Lys) rs149119564 0.00015
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_018451.5(CENPJ):c.195C>T (p.Phe65=) rs775969767 0.00015
NM_018965.4(TREM2):c.690G>A (p.Thr230=) rs199795809 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_020458.4(TTC7A):c.794G>A (p.Arg265Gln) rs78745374 0.00015
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_022098.4(XPNPEP3):c.*1394C>T rs570854426 0.00015
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn) rs373601771 0.00015
NM_025074.7(FRAS1):c.11682G>A (p.Ala3894=) rs376389151 0.00015
NM_025074.7(FRAS1):c.1796C>T (p.Ala599Val) rs368186922 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) rs200467635 0.00015
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe) rs200685818 0.00015
NM_032119.4(ADGRV1):c.15497C>T (p.Thr5166Met) rs375860783 0.00015
NM_032193.4(RNASEH2C):c.*747G>A rs201326733 0.00015
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00015
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268 0.00015
NM_153240.5(NPHP3):c.670+6T>C rs190074663 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153717.3(EVC):c.*907C>T rs71599839 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu) rs60911313 0.00015
NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg) rs1300854819 0.00015
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604 0.00015
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) rs139040133 0.00015
NM_201384.3(PLEC):c.10472G>A (p.Arg3491His) rs374469690 0.00015
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His) rs377150241 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.6679G>A (p.Glu2227Lys) rs372884590 0.00015
NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) rs781688970 0.00015
NM_203486.3(DLL3):c.452G>A (p.Arg151His) rs768310008 0.00015
NM_203486.3(DLL3):c.564G>T (p.Thr188=) rs767676342 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_206933.4(USH2A):c.5299-10T>C rs375279569 0.00015
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln) rs541275063 0.00015
NR_003051.4(RMRP):n.181dup rs940080676 0.00015
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln) rs1360373872 0.00014
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys) rs145622432 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000163.5(GHR):c.*36A>T rs376523421 0.00014
NM_000163.5(GHR):c.724G>A (p.Glu242Lys) rs121909364 0.00014
NM_000208.4(INSR):c.*2160G>T rs570523460 0.00014
NM_000208.4(INSR):c.*613C>T rs779517721 0.00014
NM_000208.4(INSR):c.*87C>T rs749041393 0.00014
NM_000211.4(ITGB2):c.-199G>A rs746349537 0.00014
NM_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384 0.00014
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_000243.3(MEFV):c.*679C>G rs886051969 0.00014
NM_000243.3(MEFV):c.*981A>G rs1354569506 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) rs139692347 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu) rs140149624 0.00014
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988 0.00014
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000318.3(PEX2):c.*1854A>C rs886063127 0.00014
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly) rs138542030 0.00014
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000337.6(SGCD):c.*1719G>A rs886060293 0.00014
NM_000337.6(SGCD):c.*3779T>C rs886060302 0.00014
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688 0.00014
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) rs143664472 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His) rs151285465 0.00014
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000506.5(F2):c.559+5G>A rs376151472 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_001009894.3(RLIG1):c.*594T>C rs376016171 0.00014
NM_001013838.3(CARMIL2):c.1937G>A (p.Arg646Gln) rs781084120 0.00014
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) rs201693690 0.00014
NM_001039958.2(MESP2):c.*318G>A rs989092590 0.00014
NM_001040167.2(LFNG):c.1078C>T (p.Arg360Cys) rs763938391 0.00014
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val) rs763210104 0.00014
NM_001042472.3(ABHD12):c.-118T>C rs886056565 0.00014
NM_001042545.2(LTBP4):c.2431+11T>C rs370485510 0.00014
NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys) rs778595954 0.00014
NM_001048166.1(STIL):c.1374C>G (p.His458Gln) rs527253805 0.00014
NM_001048166.1(STIL):c.1893T>G (p.Asp631Glu) rs373048037 0.00014
NM_001048166.1(STIL):c.2456A>G (p.Lys819Arg) rs142290334 0.00014
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu) rs202014178 0.00014
NM_001099287.2(NIPAL4):c.*1492C>T rs538345909 0.00014
NM_001099287.2(NIPAL4):c.306T>C (p.Asp102=) rs201852049 0.00014
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749 0.00014
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001127671.2(LIFR):c.*4618T>C rs576106981 0.00014
NM_001127671.2(LIFR):c.562-12G>A rs551186831 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) rs145832952 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001139.3(ALOX12B):c.1586G>A (p.Gly529Asp) rs145046775 0.00014
NM_001145809.2(MYH14):c.2331C>T (p.Ile777=) rs746261612 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_001184.4(ATR):c.6226C>G (p.Leu2076Val) rs372864251 0.00014
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001194998.2(CEP152):c.4320T>C (p.His1440=) rs372379014 0.00014
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) rs147181936 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.21962-6C>T rs374870814 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00014
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr) rs371538856 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp) rs182102510 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.49648+13T>A rs368996176 0.00014
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) rs200835354 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.72720T>A (p.Val24240=) rs550285671 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00014
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala) rs754325718 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) rs72648225 0.00014
NM_001267550.2(TTN):c.88611T>G (p.Pro29537=) rs555380931 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542 0.00014
NM_001267550.2(TTN):c.95016T>C (p.Thr31672=) rs367549998 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser) rs141708467 0.00014
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) rs187783779 0.00014
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) rs753633031 0.00014
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) rs200627657 0.00014
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144 0.00014
NM_001351132.2(PEX5):c.-17+71G>A rs927673107 0.00014
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu) rs772561166 0.00014
NM_001366722.1(GRIP1):c.*716T>C rs531925092 0.00014
NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu) rs200171461 0.00014
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 0.00014
NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) rs767322248 0.00014
NM_001374623.1(PNPLA1):c.1595+622G>A rs535470541 0.00014
NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=) rs185312959 0.00014
NM_001374623.1(PNPLA1):c.813T>A (p.Ile271=) rs201231660 0.00014
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870 0.00014
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val) rs1445492577 0.00014
NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu) rs1187000436 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_001379180.1(ESRRB):c.*2287G>A rs372618689 0.00014
NM_001379286.1(ZNF423):c.1495G>A (p.Asp499Asn) rs138661785 0.00014
NM_001379286.1(ZNF423):c.2629C>T (p.Pro877Ser) rs145101991 0.00014
NM_001379286.1(ZNF423):c.3802G>A (p.Asp1268Asn) rs199688997 0.00014
NM_001379286.1(ZNF423):c.979G>A (p.Ala327Thr) rs199919703 0.00014
NM_001382391.1(CSPP1):c.-101A>G rs200250731 0.00014
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) rs201417325 0.00014
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=) rs145141405 0.00014
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala) rs61731381 0.00014
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001386140.1(MTTP):c.*436A>G rs1450371659 0.00014
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln) rs188715129 0.00014
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 0.00014
NM_001692.4(ATP6V1B1):c.567C>T (p.Ala189=) rs112442277 0.00014
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869 0.00014
NM_002180.3(IGHMBP2):c.*465C>T rs770309885 0.00014
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His) rs201223945 0.00014
NM_002292.4(LAMB2):c.2434C>T (p.Arg812Cys) rs151134957 0.00014
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227 0.00014
NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu) rs141074838 0.00014
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373 0.00014
NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala) rs146110649 0.00014
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002335.4(LRP5):c.295G>A (p.Val99Met) rs768918663 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_002485.5(NBN):c.*2059A>C rs755199398 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002617.4(PEX10):c.967C>T (p.Arg323Trp) rs148903253 0.00014
NM_002618.4(PEX13):c.*813G>C rs781689721 0.00014
NM_002857.4(PEX19):c.*854G>A rs747191827 0.00014
NM_003193.5(TBCE):c.460+14C>T rs143717755 0.00014
NM_003619.4(PRSS12):c.*1143C>T rs987189753 0.00014
NM_003619.4(PRSS12):c.*221A>T rs774121509 0.00014
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_003896.4(ST3GAL5):c.*756G>A rs773333831 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004100.5(EYA4):c.*2759G>A rs886061098 0.00014
NM_004100.5(EYA4):c.*308G>T rs999799440 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) rs376602004 0.00014
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004525.3(LRP2):c.10633C>A (p.Leu3545Met) rs150920674 0.00014
NM_004525.3(LRP2):c.12923C>T (p.Thr4308Met) rs543890594 0.00014
NM_004525.3(LRP2):c.6373C>T (p.Arg2125Cys) rs375749752 0.00014
NM_004560.4(ROR2):c.-36A>G rs756061621 0.00014
NM_004560.4(ROR2):c.1317G>A (p.Pro439=) rs150661792 0.00014
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu) rs149689304 0.00014
NM_004999.4(MYO6):c.*4030G>A rs746829763 0.00014
NM_004999.4(MYO6):c.26C>T (p.Ala9Val) rs199508553 0.00014
NM_005219.5(DIAPH1):c.*1395C>T rs886060027 0.00014
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg) rs775424355 0.00014
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn) rs769561057 0.00014
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=) rs144447618 0.00014
NM_005529.7(HSPG2):c.1546G>A (p.Ala516Thr) rs147557804 0.00014
NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His) rs145943896 0.00014
NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val) rs371812575 0.00014
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln) rs376742471 0.00014
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662 0.00014
NM_006005.3(WFS1):c.-129A>G rs886059522 0.00014
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00014
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser) rs778383258 0.00014
NM_006892.4(DNMT3B):c.*1350G>C rs563126581 0.00014
NM_006892.4(DNMT3B):c.1591C>T (p.Arg531Cys) rs200511977 0.00014
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931 0.00014
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys) rs151292369 0.00014
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln) rs142968690 0.00014
NM_007259.5(VPS45):c.614G>A (p.Arg205His) rs146660821 0.00014
NM_012448.4(STAT5B):c.13A>T (p.Ile5Leu) rs376041480 0.00014
NM_014042.3(ANAPC15):c.180+75T>C rs912805774 0.00014
NM_014053.4(FLVCR1):c.*2409C>T rs1015419064 0.00014
NM_014053.4(FLVCR1):c.*3260T>C rs183392554 0.00014
NM_014321.4(ORC6):c.*307A>G rs547544453 0.00014
NM_014321.4(ORC6):c.207T>G (p.Ile69Met) rs138076975 0.00014
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_014425.5(INVS):c.1220A>C (p.Gln407Pro) rs374662619 0.00014
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014780.5(CUL7):c.4346C>T (p.Thr1449Met) rs144111004 0.00014
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) rs74040399 0.00014
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly) rs144767290 0.00014
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.2490C>T (p.His830=) rs549982601 0.00014
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met) rs368703067 0.00014
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn) rs367636423 0.00014
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu) rs527701970 0.00014
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) rs368538357 0.00014
NM_015311.3(OBSL1):c.2619C>T (p.Asp873=) rs769179933 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe) rs368094339 0.00014
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00014
NM_015910.7(WDPCP):c.2113G>T (p.Asp705Tyr) rs200378703 0.00014
NM_016122.3(CEP83):c.1009C>A (p.Leu337Ile) rs201914992 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_016239.4(MYO15A):c.*535G>A rs935857548 0.00014
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) rs201541616 0.00014
NM_016239.4(MYO15A):c.9772G>A (p.Val3258Ile) rs79745502 0.00014
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) rs201228765 0.00014
NM_016373.4(WWOX):c.946G>C (p.Val316Leu) rs201941494 0.00014
NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly) rs375646552 0.00014
NM_017433.5(MYO3A):c.906G>A (p.Thr302=) rs139818474 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_017755.6(NSUN2):c.*140T>C rs564014439 0.00014
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) rs374795191 0.00014
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe) rs560847421 0.00014
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala) rs141348662 0.00014
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) rs140058160 0.00014
NM_018389.5(SLC35C1):c.*1619C>A rs552263015 0.00014
NM_018389.5(SLC35C1):c.-569C>T rs886048307 0.00014
NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser) rs145433187 0.00014
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742 0.00014
NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp) rs150608591 0.00014
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_018718.3(CEP41):c.*1328T>A rs782132652 0.00014
NM_018718.3(CEP41):c.*4714T>C rs782085608 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr) rs73064420 0.00014
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272 0.00014
NM_020632.3(ATP6V0A4):c.492A>G (p.Ala164=) rs201044613 0.00014
NM_020661.4(AICDA):c.*771T>A rs1189292106 0.00014
NM_020964.3(EPG5):c.3968C>T (p.Pro1323Leu) rs143970247 0.00014
NM_020964.3(EPG5):c.65A>C (p.Glu22Ala) rs775124308 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu) rs201494083 0.00014
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) rs144040971 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_022098.4(XPNPEP3):c.*1830G>A rs950650459 0.00014
NM_022098.4(XPNPEP3):c.*4216C>T rs189664696 0.00014
NM_022124.6(CDH23):c.256G>A (p.Val86Met) rs200085829 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln) rs370944611 0.00014
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) rs377222292 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr) rs375641853 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205 0.00014
NM_022124.6(CDH23):c.7362+14G>A rs78158757 0.00014
NM_022124.6(CDH23):c.8309-3C>T rs371910002 0.00014
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) rs760731007 0.00014
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00014
NM_024649.5(BBS1):c.*104G>C rs554182779 0.00014
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu) rs183387506 0.00014
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) rs150164798 0.00014
NM_032119.4(ADGRV1):c.1317C>T (p.Ser439=) rs368171530 0.00014
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) rs201677553 0.00014
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_032119.4(ADGRV1):c.5265G>A (p.Ala1755=) rs189232336 0.00014
NM_033028.5(BBS4):c.*770C>T rs777872738 0.00014
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_138387.4(G6PC3):c.800C>G (p.Ser267Cys) rs201700844 0.00014
NM_138694.4(PKHD1):c.*2976C>T rs145040289 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) rs145745489 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463 0.00014
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser) rs200052077 0.00014
NM_147196.3(TMIE):c.*905G>A rs886058576 0.00014
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648 0.00014
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) rs769317754 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_153676.4(USH1C):c.880C>T (p.Arg294Trp) rs555152976 0.00014
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00014
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) rs372944937 0.00014
NM_173477.5(USH1G):c.-2C>T rs758940726 0.00014
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) rs146989750 0.00014
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) rs199823733 0.00014
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219 0.00014
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr) rs374301933 0.00014
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093 0.00014
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser) rs375686353 0.00014
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg) rs532911105 0.00014
NM_182961.4(SYNE1):c.16573-3C>T rs376927135 0.00014
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn) rs772627014 0.00014
NM_182961.4(SYNE1):c.7029+15A>G rs757201043 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_201384.3(PLEC):c.10010C>T (p.Thr3337Met) rs201699314 0.00014
NM_201384.3(PLEC):c.1063C>T (p.Leu355Phe) rs200260527 0.00014
NM_201384.3(PLEC):c.10931G>A (p.Arg3644His) rs368249132 0.00014
NM_201384.3(PLEC):c.10936C>T (p.Arg3646Cys) rs202175941 0.00014
NM_201384.3(PLEC):c.11394G>A (p.Arg3798=) rs368222729 0.00014
NM_201384.3(PLEC):c.11498C>T (p.Thr3833Met) rs189389994 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) rs199651668 0.00014
NM_201384.3(PLEC):c.1957G>A (p.Ala653Thr) rs368435908 0.00014
NM_201384.3(PLEC):c.254G>A (p.Gly85Glu) rs373064570 0.00014
NM_201384.3(PLEC):c.2839G>A (p.Gly947Arg) rs367695725 0.00014
NM_201384.3(PLEC):c.3293C>T (p.Thr1098Met) rs377368835 0.00014
NM_201384.3(PLEC):c.4709C>T (p.Ala1570Val) rs782096342 0.00014
NM_201384.3(PLEC):c.4715G>A (p.Arg1572His) rs782278619 0.00014
NM_201384.3(PLEC):c.6260G>A (p.Arg2087Gln) rs782091020 0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.127G>A (p.Val43Met) rs147421006 0.00014
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) rs144543286 0.00014
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) rs373190681 0.00014
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys) rs200289497 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_213599.3(ANO5):c.1036A>C (p.Ile346Leu) rs146233625 0.00014
NR_003051.3(RMRP):n.-18C>G rs775303012 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=) rs368522117 0.00013
NM_000057.4(BLM):c.-70G>T rs552669203 0.00013
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153 0.00013
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp) rs373512834 0.00013
NM_000070.3(CAPN3):c.1800+12G>A rs542523863 0.00013
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651 0.00013
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588 0.00013
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val) rs200504271 0.00013
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_000161.3(GCH1):c.-56G>A rs866010535 0.00013
NM_000165.5(GJA1):c.784T>C (p.Ser262Pro) rs149442143 0.00013
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser) rs34596269 0.00013
NM_000208.4(INSR):c.*1574G>A rs367868568 0.00013
NM_000208.4(INSR):c.*4696T>C rs546415055 0.00013
NM_000211.5(ITGB2):c.1247C>T (p.Thr416Met) rs113084585 0.00013
NM_000211.5(ITGB2):c.2041G>A (p.Gly681Arg) rs778865777 0.00013
NM_000211.5(ITGB2):c.714C>T (p.Asp238=) rs752901414 0.00013
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) rs111465715 0.00013
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00013
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452 0.00013
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00013
NM_000286.3(PEX12):c.931C>T (p.Arg311Trp) rs373666248 0.00013
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr) rs199669594 0.00013
NM_000318.3(PEX2):c.*595C>T rs754113775 0.00013
NM_000320.3(QDPR):c.*329T>G rs886059238 0.00013
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu) rs142626873 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000337.5(SGCD):c.-378G>T rs531296131 0.00013
NM_000337.6(SGCD):c.*1856A>T rs886060295 0.00013
NM_000337.6(SGCD):c.*753C>T rs543082767 0.00013
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 0.00013
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000414.4(HSD17B4):c.1204G>A (p.Ala402Thr) rs780430704 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr) rs201807430 0.00013
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00013
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe) rs1330281974 0.00013
NM_000553.6(WRN):c.2996G>A (p.Arg999His) rs769665299 0.00013
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001039958.2(MESP2):c.*101G>C rs761831896 0.00013
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) rs144575104 0.00013
NM_001042472.3(ABHD12):c.*353G>A rs886056563 0.00013
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_001042702.5(PJVK):c.-112G>T rs886055208 0.00013
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser) rs761479779 0.00013
NM_001083961.2(WDR62):c.391-10C>T rs201568145 0.00013
NM_001127649.3(PEX26):c.*1684T>C rs886057255 0.00013
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339 0.00013
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His) rs185891286 0.00013
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala) rs1358370392 0.00013
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) rs375068646 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001139.3(ALOX12B):c.380C>T (p.Pro127Leu) rs141890029 0.00013
NM_001145809.2(MYH14):c.1229G>A (p.Arg410His) rs374720181 0.00013
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln) rs576611342 0.00013
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser) rs373800371 0.00013
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys) rs148943578 0.00013
NM_001184.4(ATR):c.1885+7G>A rs74282951 0.00013
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383 0.00013
NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) rs367898142 0.00013
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_001256317.3(TMPRSS3):c.*407A>T rs145515753 0.00013
NM_001256317.3(TMPRSS3):c.*411C>A rs140838491 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001256317.3(TMPRSS3):c.681G>A (p.Gln227=) rs201260442 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala) rs372744369 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.19496A>T (p.His6499Leu) rs375173049 0.00013
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465 0.00013
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg) rs371090975 0.00013
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) rs201181445 0.00013
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His) rs373068293 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=) rs141768043 0.00013
NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu) rs200321949 0.00013
NM_001267550.2(TTN):c.36170C>A (p.Pro12057His) rs374834199 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.36490C>A (p.Pro12164Thr) rs373422655 0.00013
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln) rs141142920 0.00013
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys) rs772093035 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690 0.00013
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His) rs368634670 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg) rs370928582 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) rs776790149 0.00013
NM_001351132.2(PEX5):c.*132C>G rs753013794 0.00013
NM_001351132.2(PEX5):c.*296C>T rs758323453 0.00013
NM_001351132.2(PEX5):c.*891A>G rs371691416 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro) rs200471952 0.00013
NM_001366722.1(GRIP1):c.*1495_*1497dup rs553937765 0.00013
NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile) rs199936956 0.00013
NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=) rs372970620 0.00013
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) rs151127652 0.00013
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu) rs755244502 0.00013
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=) rs768288160 0.00013
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707 0.00013
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu) rs201868751 0.00013
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00013
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile) rs765233946 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001379180.1(ESRRB):c.*2926G>A rs767825224 0.00013
NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser) rs771730157 0.00013
NM_001379286.1(ZNF423):c.1216C>T (p.Arg406Trp) rs368847069 0.00013
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) rs748602759 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln) rs372085398 0.00013
NM_001384474.1(LOXHD1):c.1303G>A (p.Asp435Asn) rs561064266 0.00013
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_001384474.1(LOXHD1):c.3852C>T (p.Asp1284=) rs487706 0.00013
NM_001384474.1(LOXHD1):c.4554C>T (p.Ala1518=) rs376705239 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser) rs142881463 0.00013
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala) rs138377835 0.00013
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) rs377330985 0.00013
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg) rs148069401 0.00013
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) rs140852936 0.00013
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002485.5(NBN):c.*983G>A rs13312983 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003193.5(TBCE):c.*39G>A rs373300985 0.00013
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) rs144931729 0.00013
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu) rs142551296 0.00013
NM_003619.4(PRSS12):c.669G>A (p.Pro223=) rs151271524 0.00013
NM_003701.4(TNFSF11):c.*159G>A rs186999111 0.00013
NM_003896.4(ST3GAL5):c.*976G>T rs775357214 0.00013
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_003896.4(ST3GAL5):c.544G>A (p.Asp182Asn) rs373571836 0.00013
NM_004086.3(COCH):c.*432T>C rs867385285 0.00013
NM_004100.5(EYA4):c.*379C>A rs1025660001 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004393.6(DAG1):c.613A>G (p.Lys205Glu) rs145871499 0.00013
NM_004407.4(DMP1):c.*61C>T rs886059688 0.00013
NM_004415.4(DSP):c.*577G>A rs886061755 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004525.3(LRP2):c.2193T>C (p.Asp731=) rs539460153 0.00013
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp) rs143413559 0.00013
NM_004525.3(LRP2):c.9432G>A (p.Met3144Ile) rs566869929 0.00013
NM_004560.4(ROR2):c.1601C>A (p.Pro534His) rs762554351 0.00013
NM_004560.4(ROR2):c.1940A>G (p.Lys647Arg) rs369059394 0.00013
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00013
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614 0.00013
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_004836.7(EIF2AK3):c.*271T>G rs886056414 0.00013
NM_005219.5(DIAPH1):c.-27G>T rs749524827 0.00013
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
NM_005422.4(TECTA):c.4317A>C (p.Leu1439=) rs146742726 0.00013
NM_005529.7(HSPG2):c.10351C>T (p.Leu3451Phe) rs542598107 0.00013
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.4575C>T (p.Leu1525=) rs140056847 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_005529.7(HSPG2):c.8374G>A (p.Val2792Met) rs377625016 0.00013
NM_005708.5(GPC6):c.*1474A>G rs775211366 0.00013
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005881.4(BCKDK):c.1131G>A (p.Ala377=) rs151090898 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_006397.3(RNASEH2A):c.653C>T (p.Ala218Val) rs112503877 0.00013
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg) rs760066036 0.00013
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln) rs556191085 0.00013
NM_006846.4(SPINK5):c.*229A>C rs759149324 0.00013
NM_012210.4(TRIM32):c.*1416A>G rs572710748 0.00013
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00013
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012414.4(RAB3GAP2):c.1856C>T (p.Thr619Ile) rs146728785 0.00013
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu) rs1446997240 0.00013
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00013
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu) rs376649599 0.00013
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_014028.4(OSTM1):c.*2277G>A rs778098156 0.00013
NM_014028.4(OSTM1):c.*432T>G rs369418567 0.00013
NM_014053.4(FLVCR1):c.*569C>G rs185115842 0.00013
NM_014053.4(FLVCR1):c.*657A>G rs758210046 0.00013
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014425.5(INVS):c.*469A>T rs886063279 0.00013
NM_014780.5(CUL7):c.767G>A (p.Arg256Gln) rs151210822 0.00013
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys) rs763864742 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_015102.5(NPHP4):c.-202C>T rs145074678 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015102.5(NPHP4):c.3996+3C>T rs373386232 0.00013
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys) rs755124987 0.00013
NM_015120.4(ALMS1):c.-64C>T rs886056293 0.00013
NM_015294.6(TRIM37):c.*663T>C rs186395715 0.00013
NM_015294.6(TRIM37):c.*961A>G rs3826354 0.00013
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) rs199678301 0.00013
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) rs200676512 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) rs200971081 0.00013
NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly) rs199501110 0.00013
NM_016122.3(CEP83):c.257T>A (p.Leu86His) rs199598238 0.00013
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp) rs575361734 0.00013
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser) rs768668950 0.00013
NM_016239.4(MYO15A):c.*68A>C rs775481182 0.00013
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) rs547305039 0.00013
NM_016239.4(MYO15A):c.447G>C (p.Ser149=) rs762721401 0.00013
NM_016373.4(WWOX):c.1078G>A (p.Val360Met) rs200019508 0.00013
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_017433.5(MYO3A):c.*476G>A rs910475040 0.00013
NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val) rs151254539 0.00013
NM_017433.5(MYO3A):c.3256G>A (p.Ala1086Thr) rs568909391 0.00013
NM_017755.6(NSUN2):c.*294C>G rs886060727 0.00013
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=) rs150785220 0.00013
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_018451.5(CENPJ):c.-98G>A rs551938674 0.00013
NM_020247.5(COQ8A):c.-75C>T rs886046064 0.00013
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_020632.3(ATP6V0A4):c.2412C>T (p.His804=) rs372230422 0.00013
NM_020632.3(ATP6V0A4):c.945C>T (p.Asp315=) rs775519861 0.00013
NM_020661.4(AICDA):c.*670A>T rs886049873 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_020964.3(EPG5):c.6256T>G (p.Leu2086Val) rs200152090 0.00013
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142 0.00013
NM_021252.5(RAB18):c.*1502G>C rs767488036 0.00013
NM_021252.5(RAB18):c.*2862T>C rs767741672 0.00013
NM_021252.5(RAB18):c.*992C>A rs763254596 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_021942.6(TRAPPC11):c.1654G>A (p.Asp552Asn) rs374195797 0.00013
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) rs375552345 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_022098.4(XPNPEP3):c.*1696G>A rs886057521 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.3220+5G>A rs977262704 0.00013
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=) rs376386945 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439 0.00013
NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr) rs375019257 0.00013
NM_022336.4(EDAR):c.*188G>C rs768401042 0.00013
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) rs200280772 0.00013
NM_025074.7(FRAS1):c.*1810C>T rs1029985381 0.00013
NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=) rs372802938 0.00013
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) rs201110914 0.00013
NM_025074.7(FRAS1):c.9375T>A (p.His3125Gln) rs370907958 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) rs758346041 0.00013
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) rs201257852 0.00013
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_032119.4(ADGRV1):c.1510-7A>T rs182260529 0.00013
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062 0.00013
NM_032119.4(ADGRV1):c.8034T>G (p.Thr2678=) rs200712751 0.00013
NM_032193.4(RNASEH2C):c.*1658G>C rs886048488 0.00013
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200 0.00013
NM_032575.3(GLIS2):c.*1830C>T rs578236633 0.00013
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_033064.5(ATCAY):c.*929G>A rs1007947890 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_133379.5(TTN):c.10844G>A (p.Arg3615Gln) rs747054427 0.00013
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln) rs146359866 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=) rs552170649 0.00013
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
NM_138694.4(PKHD1):c.*934G>T rs558281379 0.00013
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) rs148300854 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg) rs532623099 0.00013
NM_145309.6(LRRC51):c.-140+5G>A rs767961368 0.00013
NM_152618.3(BBS12):c.-109G>T rs886059057 0.00013
NM_153240.5(NPHP3):c.1930G>A (p.Val644Met) rs1238689431 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_153717.3(EVC):c.*1871C>T rs150764469 0.00013
NM_153717.3(EVC):c.*2569C>T rs117573606 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_173477.5(USH1G):c.-8C>T rs769903865 0.00013
NM_173477.5(USH1G):c.635G>C (p.Gly212Ala) rs200197601 0.00013
NM_178170.3(NEK8):c.*421G>A rs886052770 0.00013
NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu) rs373048342 0.00013
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=) rs142296702 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His) rs139175290 0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu) rs149790873 0.00013
NM_201384.3(PLEC):c.10000G>A (p.Gly3334Ser) rs202003084 0.00013
NM_201384.3(PLEC):c.10999C>T (p.Arg3667Trp) rs373318830 0.00013
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) rs77146441 0.00013
NM_201384.3(PLEC):c.1301G>A (p.Arg434Gln) rs201336009 0.00013
NM_201384.3(PLEC):c.13483A>G (p.Thr4495Ala) rs782383259 0.00013
NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu) rs574054664 0.00013
NM_201384.3(PLEC):c.2462C>T (p.Thr821Ile) rs200686790 0.00013
NM_201384.3(PLEC):c.2699G>A (p.Arg900His) rs376953993 0.00013
NM_201384.3(PLEC):c.5674G>A (p.Glu1892Lys) rs201075382 0.00013
NM_201384.3(PLEC):c.6278C>T (p.Ala2093Val) rs782190474 0.00013
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met) rs369522291 0.00013
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His) rs368343687 0.00013
NM_201384.3(PLEC):c.8033C>T (p.Thr2678Met) rs201093335 0.00013
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) rs368122904 0.00013
NM_201384.3(PLEC):c.901G>A (p.Ala301Thr) rs573432728 0.00013
NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) rs201455467 0.00013
NM_201384.3(PLEC):c.9841G>A (p.Val3281Met) rs202005454 0.00013
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=) rs148499621 0.00013
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn) rs756423843 0.00013
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg) rs376314751 0.00013
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr) rs144112891 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met) rs370988961 0.00013
NM_207361.6(FREM2):c.*5552C>T rs886050214 0.00013
NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln) rs145484598 0.00013
NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp) rs142322683 0.00013
NM_207361.6(FREM2):c.6421G>A (p.Glu2141Lys) rs376602370 0.00013
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_207361.6(FREM2):c.7332C>T (p.Asp2444=) rs773197293 0.00013
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) rs369440498 0.00012
NM_000057.4(BLM):c.*142T>C rs1040068612 0.00012
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000070.3(CAPN3):c.*211G>A rs112661890 0.00012
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=) rs144260889 0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp) rs200668675 0.00012
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000124.4(ERCC6):c.*2540G>T rs535495750 0.00012
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu) rs114852424 0.00012
NM_000245.4(MET):c.289C>G (p.Pro97Ala) rs199736573 0.00012
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000271.5(NPC1):c.466A>G (p.Met156Val) rs149074243 0.00012
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235 0.00012
NM_000288.4(PEX7):c.28C>T (p.Arg10Trp) rs1321528623 0.00012
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr) rs143604754 0.00012
NM_000318.3(PEX2):c.*2519G>A rs1005895700 0.00012
NM_000318.3(PEX2):c.*596G>A rs139852334 0.00012
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000337.6(SGCD):c.*6127G>A rs527412372 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000370.3(TTPA):c.*1422T>G rs913423928 0.00012
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) rs141163645 0.00012
NM_000414.4(HSD17B4):c.1058C>T (p.Ala353Val) rs138560200 0.00012
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.725G>A (p.Arg242His) rs373570586 0.00012
NM_000441.2(SLC26A4):c.*1584dup rs886061890 0.00012
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001013693.3(LDLRAD2):c.*998C>T rs777311066 0.00012
NM_001017420.3(ESCO2):c.-17+15A>T rs886062857 0.00012
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) rs143530690 0.00012
NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met) rs139908851 0.00012
NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) rs374217208 0.00012
NM_001044385.3(TMEM237):c.*1151C>T rs188943302 0.00012
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637 0.00012
NM_001127649.3(PEX26):c.*2308A>T rs775281083 0.00012
NM_001127671.2(LIFR):c.*393G>T rs779132960 0.00012
NM_001127671.2(LIFR):c.*5004A>G rs758275090 0.00012
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) rs376358025 0.00012
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe) rs367901920 0.00012
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser) rs201834175 0.00012
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) rs149732545 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001139.3(ALOX12B):c.1854G>T (p.Thr618=) rs542074777 0.00012
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys) rs138928835 0.00012
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001184.4(ATR):c.437C>A (p.Thr146Lys) rs368592452 0.00012
NM_001184.4(ATR):c.6090G>A (p.Ala2030=) rs201988169 0.00012
NM_001256317.3(TMPRSS3):c.*664C>T rs753514974 0.00012
NM_001256317.3(TMPRSS3):c.*805T>C rs771422917 0.00012
NM_001256317.3(TMPRSS3):c.1191+10C>T rs201451028 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser) rs565638291 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) rs550441902 0.00012
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_001267550.2(TTN):c.37019C>T (p.Pro12340Leu) rs778829839 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00012
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln) rs370516890 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg) rs373717147 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) rs397517720 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00012
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) rs142478636 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00012
NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val) rs775147653 0.00012
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) rs370560098 0.00012
NM_001367624.2(ZNF469):c.*218G>A rs137889724 0.00012
NM_001367624.2(ZNF469):c.*285C>T rs35994806 0.00012
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser) rs548646578 0.00012
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr) rs746733236 0.00012
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740 0.00012
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr) rs558035857 0.00012
NM_001374623.1(PNPLA1):c.439-7C>T rs373711651 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573 0.00012
NM_001378615.1(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524 0.00012
NM_001379180.1(ESRRB):c.*2334G>A rs545818408 0.00012
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg) rs373927950 0.00012
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_001384474.1(LOXHD1):c.3236A>G (p.Tyr1079Cys) rs367863703 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile) rs368854893 0.00012
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala) rs149910460 0.00012
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073 0.00012
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417 0.00012
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075 0.00012
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655 0.00012
NM_002292.4(LAMB2):c.2488+6C>G rs371384656 0.00012
NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val) rs139156815 0.00012
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208 0.00012
NM_002310.6(LIFR):c.-139G>A rs373489850 0.00012
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) rs201916993 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_002618.4(PEX13):c.*1174A>T rs182453488 0.00012
NM_002618.4(PEX13):c.*1376C>T rs927046080 0.00012
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_002855.5(NECTIN1):c.*795C>A rs750967066 0.00012
NM_002906.3(RDX):c.-290C>A rs886047655 0.00012
NM_002906.4(RDX):c.-133C>T rs553369693 0.00012
NM_003193.5(TBCE):c.738-12T>A rs370888603 0.00012
NM_003193.5(TBCE):c.909G>A (p.Thr303=) rs202063874 0.00012
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) rs183359461 0.00012
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_003801.4(GPAA1):c.541G>A (p.Val181Ile) rs199578024 0.00012
NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met) rs766509761 0.00012
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_003896.4(ST3GAL5):c.*678C>T rs188807604 0.00012
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00012
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg) rs369180031 0.00012
NM_004415.4(DSP):c.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_004525.3(LRP2):c.*1386A>T rs200562866 0.00012
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=) rs201793817 0.00012
NM_004525.3(LRP2):c.2476A>T (p.Asn826Tyr) rs201591789 0.00012
NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile) rs139705387 0.00012
NM_004525.3(LRP2):c.6511A>G (p.Ile2171Val) rs148562167 0.00012
NM_004565.3(PEX14):c.*369A>G rs977546775 0.00012
NM_004836.7(EIF2AK3):c.*360C>T rs551581209 0.00012
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) rs187776572 0.00012
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) rs200991366 0.00012
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005199.5(CHRNG):c.573G>A (p.Glu191=) rs771417982 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005522.4(HOXA1):c.-90A>G rs981104456 0.00012
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.3543C>T (p.His1181=) rs375029322 0.00012
NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=) rs369970075 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_005708.5(GPC6):c.*422A>G rs776540396 0.00012
NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile) rs1336386973 0.00012
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006208.3(ENPP1):c.*1221A>G rs537272519 0.00012
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) rs587646859 0.00012
NM_012210.4(TRIM32):c.313C>T (p.Arg105Trp) rs201130164 0.00012
NM_012210.4(TRIM32):c.863C>A (p.Pro288His) rs367574371 0.00012
NM_012233.3(RAB3GAP1):c.-4C>T rs202050016 0.00012
NM_012463.4(ATP6V0A2):c.*3159G>A rs539564846 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_014028.4(OSTM1):c.*2195T>G rs924418376 0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) rs550068559 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln) rs183392900 0.00012
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro) rs1317065002 0.00012
NM_015028.4(TNIK):c.2869A>G (p.Met957Val) rs200347488 0.00012
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys) rs371819898 0.00012
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn) rs763576044 0.00012
NM_015102.5(NPHP4):c.279+6C>T rs199856317 0.00012
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_016239.4(MYO15A):c.10420A>G (p.Ser3474Gly) rs150181830 0.00012
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=) rs367799231 0.00012
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp) rs374541202 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser) rs763793795 0.00012
NM_018249.6(CDK5RAP2):c.4165A>T (p.Ser1389Cys) rs200673172 0.00012
NM_018389.5(SLC35C1):c.*1127G>A rs187013469 0.00012
NM_018389.5(SLC35C1):c.*572C>T rs886048318 0.00012
NM_018451.5(CENPJ):c.3825-11A>T rs527946206 0.00012
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_020247.5(COQ8A):c.-113A>G rs886046063 0.00012
NM_020458.4(TTC7A):c.248C>A (p.Ala83Asp) rs145327046 0.00012
NM_020631.6(PLEKHG5):c.2201C>T (p.Ser734Phe) rs554772993 0.00012
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312 0.00012
NM_020632.3(ATP6V0A4):c.1893C>A (p.Pro631=) rs143558330 0.00012
NM_020751.3(COG6):c.155A>G (p.Glu52Gly) rs201308360 0.00012
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile) rs200214318 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) rs752619582 0.00012
NM_022098.4(XPNPEP3):c.*2779C>T rs886057532 0.00012
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr) rs139592817 0.00012
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu) rs137859412 0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_022124.6(CDH23):c.6081T>G (p.Ile2027Met) rs114919561 0.00012
NM_022124.6(CDH23):c.6678C>T (p.Asn2226=) rs372120764 0.00012
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met) rs773526836 0.00012
NM_022336.4(EDAR):c.-256C>T rs970357940 0.00012
NM_024596.5(MCPH1):c.1189G>A (p.Val397Met) rs539491399 0.00012
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) rs199711874 0.00012
NM_024685.4(BBS10):c.*1250A>G rs182439491 0.00012
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_025074.7(FRAS1):c.*460A>G rs760216437 0.00012
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00012
NM_025074.7(FRAS1):c.7522+12C>G rs188066525 0.00012
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_025114.4(CEP290):c.31A>G (p.Met11Val) rs185939120 0.00012
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_031885.5(BBS2):c.*91C>T rs148188874 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_032119.4(ADGRV1):c.12476A>C (p.His4159Pro) rs200805176 0.00012
NM_032119.4(ADGRV1):c.13293T>C (p.Tyr4431=) rs375468899 0.00012
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala) rs368806892 0.00012
NM_033028.5(BBS4):c.24+6C>T rs1427489194 0.00012
NM_033064.5(ATCAY):c.*2311G>A rs186330129 0.00012
NM_033064.5(ATCAY):c.717G>A (p.Thr239=) rs768556456 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_138694.4(PKHD1):c.7911+5C>A rs199953233 0.00012
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu) rs140163629 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_152443.3(RDH12):c.300C>T (p.Ser100=) rs746513362 0.00012
NM_152618.3(BBS12):c.*425C>T rs890616532 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_153240.5(NPHP3):c.*46A>G rs530016526 0.00012
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216 0.00012
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153717.3(EVC):c.*1369G>A rs1414205292 0.00012
NM_153717.3(EVC):c.*1403C>T rs547015924 0.00012
NM_153717.3(EVC):c.-20C>A rs991444136 0.00012
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr) rs375952682 0.00012
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly) rs747959135 0.00012
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) rs140094683 0.00012
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys) rs146113045 0.00012
NM_182548.4(LHFPL5):c.*475C>T rs13205046 0.00012
NM_182961.4(SYNE1):c.-347C>A rs570030870 0.00012
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys) rs138770612 0.00012
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890 0.00012
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp) rs150290283 0.00012
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267 0.00012
NM_182961.4(SYNE1):c.4008+15T>C rs368542446 0.00012
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675 0.00012
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met) rs763526846 0.00012
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988 0.00012
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) rs375724891 0.00012
NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met) rs377252521 0.00012
NM_201384.3(PLEC):c.2410C>T (p.Arg804Trp) rs201194946 0.00012
NM_201384.3(PLEC):c.635G>A (p.Arg212Gln) rs533217840 0.00012
NM_201384.3(PLEC):c.9593G>A (p.Arg3198Gln) rs559417477 0.00012
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly) rs77797012 0.00012
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val) rs143523460 0.00012
NM_207361.6(FREM2):c.*5869C>G rs866646570 0.00012
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00012
NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys) rs553816676 0.00012
NM_207361.6(FREM2):c.5264-5T>G rs375059201 0.00012
NM_207361.6(FREM2):c.6669A>G (p.Gln2223=) rs114333791 0.00012
NR_003051.4(RMRP):n.112G>A rs1031995271 0.00012
NR_003051.4(RMRP):n.90G>A rs780957606 0.00012
NM_000019.3(ACAT1):c.*397C>T rs568860814 0.00011
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092 0.00011
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg) rs587778292 0.00011
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly) rs769749617 0.00011
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile) rs150185423 0.00011
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg) rs371919912 0.00011
NM_000208.4(INSR):c.*1584C>G rs535755401 0.00011
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000211.5(ITGB2):c.1306A>G (p.Ile436Val) rs142489611 0.00011
NM_000211.5(ITGB2):c.1969G>A (p.Val657Met) rs376990045 0.00011
NM_000211.5(ITGB2):c.537C>T (p.Phe179=) rs371548080 0.00011
NM_000211.5(ITGB2):c.625A>C (p.Lys209Gln) rs769571214 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.722C>T (p.Thr241Ile) rs1265119318 0.00011
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile) rs759769839 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00011
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_000260.4(MYO7A):c.*100C>T rs758099500 0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.1797+7C>T rs782820757 0.00011
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu) rs200057810 0.00011
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.3375+14C>A rs782500012 0.00011
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser) rs777168937 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578 0.00011
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870 0.00011
NM_000271.5(NPC1):c.-154C>T rs746297876 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_000271.5(NPC1):c.398T>G (p.Val133Gly) rs375039992 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_000286.3(PEX12):c.-138T>C rs543169335 0.00011
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718 0.00011
NM_000286.3(PEX12):c.793T>C (p.Tyr265His) rs142726996 0.00011
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000318.3(PEX2):c.*40G>A rs148915806 0.00011
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666 0.00011
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000337.6(SGCD):c.*2139C>T rs889080445 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000414.4(HSD17B4):c.1262G>A (p.Gly421Glu) rs139500402 0.00011
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 0.00011
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) rs199738915 0.00011
NM_000441.2(SLC26A4):c.*351G>A rs957299935 0.00011
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp) rs199989676 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) rs201443294 0.00011
NM_000466.3(PEX1):c.2954G>A (p.Arg985His) rs202057449 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539 0.00011
NM_000492.4(CFTR):c.2620-97C>T rs146376436 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr) rs201016820 0.00011
NM_000506.5(F2):c.*9T>G rs201577861 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000553.5(WRN):c.-519C>A rs545194854 0.00011
NM_000553.6(WRN):c.2518G>A (p.Gly840Ser) rs758819862 0.00011
NM_000553.6(WRN):c.3097C>T (p.Arg1033Trp) rs143954702 0.00011
NM_000553.6(WRN):c.548A>G (p.His183Arg) rs746210769 0.00011
NM_000760.4(CSF3R):c.142A>G (p.Ile48Val) rs1047054210 0.00011
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=) rs367611336 0.00011
NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) rs778331588 0.00011
NM_001039213.4(CEACAM16):c.1191C>A (p.Asp397Glu) rs543881691 0.00011
NM_001039876.3(SYNE4):c.601C>A (p.Leu201Met) rs200083160 0.00011
NM_001040167.2(LFNG):c.1003G>A (p.Gly335Ser) rs764991226 0.00011
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00011
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn) rs143081480 0.00011
NM_001048166.1(STIL):c.*599A>G rs886046389 0.00011
NM_001048166.1(STIL):c.2063C>T (p.Pro688Leu) rs761677141 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.281-5T>C rs367743923 0.00011
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989 0.00011
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val) rs201999820 0.00011
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_001083961.2(WDR62):c.328G>A (p.Ala110Thr) rs200316266 0.00011
NM_001098484.3(SLC4A4):c.*1526C>A rs1028183538 0.00011
NM_001098484.3(SLC4A4):c.2925T>C (p.Ile975=) rs143924311 0.00011
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 0.00011
NM_001111.5(ADAR):c.3401A>G (p.Tyr1134Cys) rs150284449 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_001127671.2(LIFR):c.*1198C>T rs775264074 0.00011
NM_001127671.2(LIFR):c.*2697A>G rs886060617 0.00011
NM_001127671.2(LIFR):c.*3375A>G rs778888227 0.00011
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile) rs371609233 0.00011
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) rs144936357 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) rs138784430 0.00011
NM_001145809.2(MYH14):c.1329+7G>A rs374953263 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=) rs766728732 0.00011
NM_001145809.2(MYH14):c.5961-10C>T rs776693090 0.00011
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val) rs370022963 0.00011
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp) rs754360599 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001184.4(ATR):c.1411G>C (p.Glu471Gln) rs371350410 0.00011
NM_001184.4(ATR):c.3642T>C (p.His1214=) rs139078985 0.00011
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser) rs371448615 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro) rs370496599 0.00011
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val) rs377290301 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_001267550.2(TTN):c.34379-15A>G rs764544769 0.00011
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val) rs764249439 0.00011
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile) rs370418677 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) rs375309278 0.00011
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=) rs747908048 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr) rs727505276 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) rs775137607 0.00011
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His) rs745992545 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val) rs201818722 0.00011
NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys) rs372662393 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00011
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg) rs376403373 0.00011
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) rs752309744 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr) rs876658096 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3022G>A (p.Val1008Met) rs145335410 0.00011
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser) rs770243852 0.00011
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) rs184461956 0.00011
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) rs376681702 0.00011
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) rs200735064 0.00011
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) rs201393625 0.00011
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln) rs759523235 0.00011
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met) rs138028549 0.00011
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) rs751043763 0.00011
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala) rs777842778 0.00011
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) rs367799104 0.00011
NM_001366722.1(GRIP1):c.345C>T (p.Asp115=) rs760613522 0.00011
NM_001366722.1(GRIP1):c.92A>G (p.Lys31Arg) rs200713915 0.00011
NM_001367624.2(ZNF469):c.*216G>A rs146964491 0.00011
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=) rs527707590 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013 0.00011
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=) rs561239255 0.00011
NM_001374623.1(PNPLA1):c.1420G>A (p.Ala474Thr) rs139909055 0.00011
NM_001378454.1(ALMS1):c.-16A>G rs746944958 0.00011
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00011
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489 0.00011
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.8530C>T (p.Leu2844Phe) rs920714816 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_001378615.1(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216 0.00011
NM_001379286.1(ZNF423):c.1132G>A (p.Ala378Thr) rs199760788 0.00011
NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu) rs112570445 0.00011
NM_001379286.1(ZNF423):c.2984C>T (p.Thr995Met) rs143393771 0.00011
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) rs371720718 0.00011
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) rs200346372 0.00011
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) rs368550470 0.00011
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) rs371211802 0.00011
NM_001384140.1(PCDH15):c.4368-1028C>A rs898510053 0.00011
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.6187A>C (p.Thr2063Pro) rs547733414 0.00011
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) rs754693915 0.00011
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_001692.4(ATP6V1B1):c.1378+10G>A rs782676816 0.00011
NM_002109.6(HARS1):c.952-3C>A rs373032755 0.00011
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) rs375361490 0.00011
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His) rs148333147 0.00011
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) rs199570781 0.00011
NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp) rs755963903 0.00011
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile) rs373872524 0.00011
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe) rs148462220 0.00011
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr) rs199887400 0.00011
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) rs996966324 0.00011
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) rs544801273 0.00011
NM_002473.6(MYH9):c.3852C>T (p.Asn1284=) rs200272787 0.00011
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) rs758626716 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_002617.4(PEX10):c.361C>A (p.Pro121Thr) rs1056200158 0.00011
NM_002617.4(PEX10):c.583C>T (p.Leu195Phe) rs116354317 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_002618.4(PEX13):c.*2296G>A rs886056208 0.00011
NM_002855.5(NECTIN1):c.*201G>A rs982875298 0.00011
NM_002857.4(PEX19):c.*1013G>A rs747057473 0.00011
NM_002906.4(RDX):c.6G>A (p.Pro2=) rs202177331 0.00011
NM_003193.5(TBCE):c.-68G>C rs754235694 0.00011
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr) rs371024271 0.00011
NM_003619.4(PRSS12):c.*604A>C rs551930250 0.00011
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile) rs201801258 0.00011
NM_003672.4(CDC14A):c.1251-5C>T rs375381230 0.00011
NM_003701.4(TNFSF11):c.*357C>T rs192340175 0.00011
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) rs757543096 0.00011
NM_003896.4(ST3GAL5):c.1012G>A (p.Val338Ile) rs758368552 0.00011
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004100.5(EYA4):c.*1600G>A rs998755605 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004525.3(LRP2):c.12476C>T (p.Ser4159Leu) rs147846992 0.00011
NM_004525.3(LRP2):c.13302C>T (p.Ile4434=) rs559818035 0.00011
NM_004525.3(LRP2):c.2639C>T (p.Ala880Val) rs761993567 0.00011
NM_004525.3(LRP2):c.2987G>A (p.Arg996Gln) rs201115003 0.00011
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=) rs201155152 0.00011
NM_004525.3(LRP2):c.5553C>T (p.His1851=) rs369998522 0.00011
NM_004525.3(LRP2):c.5827-7C>A rs536933380 0.00011
NM_004525.3(LRP2):c.6689C>T (p.Ser2230Leu) rs374860840 0.00011
NM_004525.3(LRP2):c.8609A>G (p.Gln2870Arg) rs760630762 0.00011
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) rs149842671 0.00011
NM_004560.4(ROR2):c.1885G>A (p.Val629Met) rs148844963 0.00011
NM_004560.4(ROR2):c.2190C>T (p.Asn730=) rs372509332 0.00011
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820 0.00011
NM_004836.7(EIF2AK3):c.*356A>G rs974625421 0.00011
NM_004937.3(CTNS):c.*2584C>T rs548531950 0.00011
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_004999.4(MYO6):c.*3890G>A rs574818180 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655 0.00011
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) rs370849059 0.00011
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met) rs368497178 0.00011
NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser) rs778185997 0.00011
NM_005529.7(HSPG2):c.4681G>A (p.Glu1561Lys) rs372608187 0.00011
NM_005529.7(HSPG2):c.6917C>T (p.Ala2306Val) rs758311848 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.8212G>A (p.Val2738Met) rs144862631 0.00011
NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln) rs202018841 0.00011
NM_005529.7(HSPG2):c.9908C>T (p.Thr3303Met) rs150109595 0.00011
NM_005708.5(GPC6):c.*1472G>C rs562122626 0.00011
NM_005708.5(GPC6):c.1524G>A (p.Thr508=) rs767667871 0.00011
NM_005708.5(GPC6):c.1601G>A (p.Arg534His) rs142131323 0.00011
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr) rs200689545 0.00011
NM_006005.3(WFS1):c.-105T>G rs886059523 0.00011
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_006019.4(TCIRG1):c.1464-5C>T rs372813575 0.00011
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=) rs373244328 0.00011
NM_006019.4(TCIRG1):c.387C>T (p.Ala129=) rs763756780 0.00011
NM_006397.3(RNASEH2A):c.199+8C>G rs200834484 0.00011
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 0.00011
NM_006846.4(SPINK5):c.1165C>G (p.Gln389Glu) rs371745897 0.00011
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_006892.4(DNMT3B):c.1592G>A (p.Arg531His) rs374520428 0.00011
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly) rs781801888 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_012233.3(RAB3GAP1):c.*346G>A rs534792972 0.00011
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007 0.00011
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_012448.4(STAT5B):c.550+5G>A rs773246323 0.00011
NM_012463.4(ATP6V0A2):c.*3166C>T rs777687879 0.00011
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp) rs549821547 0.00011
NM_013382.7(POMT2):c.*1724C>T rs45510397 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) rs368089670 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014425.5(INVS):c.*5C>T rs371839458 0.00011
NM_014425.5(INVS):c.*73T>A rs886063273 0.00011
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
NM_014780.5(CUL7):c.2230G>A (p.Val744Met) rs547138217 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014875.3(KIF14):c.1009G>A (p.Glu337Lys) rs147387069 0.00011
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) rs752265345 0.00011
NM_014918.5(CHSY1):c.973T>A (p.Ser325Thr) rs765848875 0.00011
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln) rs137987733 0.00011
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu) rs146456836 0.00011
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.2800C>T (p.Arg934Cys) rs774737760 0.00011
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met) rs528511138 0.00011
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248 0.00011
NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln) rs758146224 0.00011
NM_015272.5(RPGRIP1L):c.*588A>G rs894081042 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_015275.3(WASHC4):c.154T>G (p.Ser52Ala) rs376604258 0.00011
NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) rs199890334 0.00011
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) rs375101491 0.00011
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His) rs139364730 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) rs373098915 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu) rs368933340 0.00011
NM_016042.4(EXOSC3):c.*402C>T rs567641975 0.00011
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) rs372680556 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_016239.4(MYO15A):c.5965-8C>T rs766643065 0.00011
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) rs200534758 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_016464.5(TMEM138):c.-23G>A rs192056545 0.00011
NM_016464.5(TMEM138):c.-55G>A rs555405590 0.00011
NM_016464.5(TMEM138):c.-71G>A rs199532763 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_017433.5(MYO3A):c.*239C>T rs977461628 0.00011
NM_017433.5(MYO3A):c.4140C>T (p.Val1380=) rs376559049 0.00011
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr) rs186444670 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00011
NM_018075.5(ANO10):c.*372G>T rs145489333 0.00011
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr) rs191413952 0.00011
NM_018081.2(WRAP53):c.-255G>A rs564330662 0.00011
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) rs201679731 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.4053A>C (p.Ala1351=) rs147209201 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) rs186663906 0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp) rs112946633 0.00011
NM_018249.6(CDK5RAP2):c.1969-6T>C rs200495506 0.00011
NM_018249.6(CDK5RAP2):c.5121G>A (p.Pro1707=) rs748889605 0.00011
NM_018319.4(TDP1):c.*1015G>A rs374734859 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_018451.5(CENPJ):c.*890T>C rs17480581 0.00011
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala) rs199925549 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_018718.3(CEP41):c.*1773A>G rs782011799 0.00011
NM_018718.3(CEP41):c.*859G>A rs781930185 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_018965.3(TREM2):c.-98C>T rs558304800 0.00011
NM_020066.5(FMN2):c.2297G>A (p.Arg766His) rs554313620 0.00011
NM_020247.5(COQ8A):c.*110G>C rs1046215592 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile) rs146284515 0.00011
NM_020458.4(TTC7A):c.1559C>T (p.Thr520Met) rs142107031 0.00011
NM_020458.4(TTC7A):c.1641+3G>C rs370452371 0.00011
NM_020458.4(TTC7A):c.194G>C (p.Gly65Ala) rs374016606 0.00011
NM_020458.4(TTC7A):c.2440G>A (p.Glu814Lys) rs766107839 0.00011
NM_020458.4(TTC7A):c.826A>T (p.Thr276Ser) rs373538285 0.00011
NM_020631.5(PLEKHG5):c.*1347G>T rs886046486 0.00011
NM_020632.3(ATP6V0A4):c.1030-14T>A rs758945742 0.00011
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr) rs201922229 0.00011
NM_020751.3(COG6):c.730G>A (p.Val244Ile) rs147560202 0.00011
NM_020779.4(WDR35):c.*2618G>A rs563586298 0.00011
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs539243373 0.00011
NM_020964.3(EPG5):c.2618C>T (p.Ala873Val) rs201678945 0.00011
NM_020964.3(EPG5):c.424G>A (p.Glu142Lys) rs190673127 0.00011
NM_020964.3(EPG5):c.6765C>T (p.Pro2255=) rs200203116 0.00011
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val) rs200754523 0.00011
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg) rs137887553 0.00011
NM_021252.4(RAB18):c.-144T>A rs780539442 0.00011
NM_021628.3(ALOXE3):c.1432A>C (p.Ser478Arg) rs368012174 0.00011
NM_021971.4(GMPPB):c.956G>A (p.Arg319His) rs768327938 0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) rs148534162 0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) rs370421723 0.00011
NM_022098.4(XPNPEP3):c.*1162G>A rs1411643653 0.00011
NM_022098.4(XPNPEP3):c.*3112T>C rs754930334 0.00011
NM_022098.4(XPNPEP3):c.*700G>A rs576978422 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_022124.6(CDH23):c.1514+6A>G rs367949981 0.00011
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) rs201584731 0.00011
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.6163C>T (p.Leu2055=) rs536022792 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) rs199903227 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.838A>G (p.Thr280Ala) rs777244853 0.00011
NM_022124.6(CDH23):c.8437C>T (p.Pro2813Ser) rs537251448 0.00011
NM_022124.6(CDH23):c.8465A>G (p.Asp2822Gly) rs373155603 0.00011
NM_022124.6(CDH23):c.9865A>G (p.Thr3289Ala) rs375712395 0.00011
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_022336.4(EDAR):c.*499C>T rs886054743 0.00011
NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) rs368553609 0.00011
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln) rs988134864 0.00011
NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly) rs759545352 0.00011
NM_024596.5(MCPH1):c.2452+9C>A rs200446680 0.00011
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) rs760237505 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024685.4(BBS10):c.*734G>T rs750187536 0.00011
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_024753.5(TTC21B):c.*424A>G rs117664297 0.00011
NM_024753.5(TTC21B):c.*910C>T rs745335688 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu) rs749719250 0.00011
NM_025009.5(CEP135):c.2534T>C (p.Val845Ala) rs141330867 0.00011
NM_025074.7(FRAS1):c.*1578T>C rs776119595 0.00011
NM_025074.7(FRAS1):c.*1787G>A rs549532188 0.00011
NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln) rs552676865 0.00011
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln) rs188502327 0.00011
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu) rs199980023 0.00011
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr) rs762311530 0.00011
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) rs202024965 0.00011
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_030928.4(CDT1):c.748C>T (p.Arg250Cys) rs199723040 0.00011
NM_031466.8(TRAPPC9):c.-74C>A rs139214686 0.00011
NM_031471.6(FERMT3):c.269G>A (p.Arg90His) rs552829558 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met) rs376428763 0.00011
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_032119.4(ADGRV1):c.4770A>G (p.Ser1590=) rs144401211 0.00011
NM_032119.4(ADGRV1):c.6228C>T (p.Ile2076=) rs376325671 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198 0.00011
NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys) rs146967886 0.00011
NM_032575.3(GLIS2):c.*12G>A rs201860422 0.00011
NM_032575.3(GLIS2):c.*881C>T rs540618522 0.00011
NM_032575.3(GLIS2):c.304C>T (p.Arg102Cys) rs371434004 0.00011
NM_032575.3(GLIS2):c.505G>A (p.Val169Met) rs144844035 0.00011
NM_032575.3(GLIS2):c.651C>T (p.Asn217=) rs140609747 0.00011
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs) rs748758201 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) rs145919543 0.00011
NM_138387.4(G6PC3):c.-164G>A rs886052985 0.00011
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) rs138557340 0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val) rs573874378 0.00011
NM_138694.4(PKHD1):c.*3171A>G rs149167096 0.00011
NM_138694.4(PKHD1):c.-214G>A rs886061625 0.00011
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188 0.00011
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.5266T>C (p.Phe1756Leu) rs368467585 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_139319.3(SLC17A8):c.-88A>C rs780354237 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_144709.4(PUS10):c.-16+255C>T rs200847026 0.00011
NM_145861.4(EDARADD):c.*1508C>T rs886046196 0.00011
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) rs371107041 0.00011
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) rs369447363 0.00011
NM_153676.4(USH1C):c.*110C>G rs75815445 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153717.3(EVC):c.*1568C>T rs886059514 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp) rs754207459 0.00011
NM_173076.3(ABCA12):c.*522_*524dup rs535404027 0.00011
NM_173477.5(USH1G):c.*1119G>A rs182142592 0.00011
NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser) rs201416355 0.00011
NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro) rs201126816 0.00011
NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro) rs1022019420 0.00011
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) rs202244716 0.00011
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00011
NM_178170.3(NEK8):c.1148G>A (p.Arg383His) rs138066977 0.00011
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys) rs752331372 0.00011
NM_182548.4(LHFPL5):c.*386A>T rs1056962421 0.00011
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715 0.00011
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011 0.00011
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902 0.00011
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920 0.00011
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174 0.00011
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro) rs370472085 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308 0.00011
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070 0.00011
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00011
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala) rs138436479 0.00011
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) rs146770174 0.00011
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_198525.3(KIF7):c.2191+7C>T rs371970440 0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145 0.00011
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) rs190037839 0.00011
NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu) rs782569204 0.00011
NM_201384.3(PLEC):c.10664C>T (p.Thr3555Met) rs141176249 0.00011
NM_201384.3(PLEC):c.10981G>A (p.Glu3661Lys) rs782218716 0.00011
NM_201384.3(PLEC):c.11027C>T (p.Ala3676Val) rs200875002 0.00011
NM_201384.3(PLEC):c.11587C>T (p.Arg3863Trp) rs2857818 0.00011
NM_201384.3(PLEC):c.12565G>A (p.Val4189Met) rs782787400 0.00011
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His) rs151106439 0.00011
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile) rs201163149 0.00011
NM_201384.3(PLEC):c.13414A>C (p.Lys4472Gln) rs782417764 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser) rs782618187 0.00011
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val) rs375178454 0.00011
NM_201384.3(PLEC):c.3176C>T (p.Ala1059Val) rs529986115 0.00011
NM_201384.3(PLEC):c.3683G>A (p.Arg1228Gln) rs201347953 0.00011
NM_201384.3(PLEC):c.4323G>C (p.Glu1441Asp) rs782706697 0.00011
NM_201384.3(PLEC):c.5161G>A (p.Glu1721Lys) rs782556816 0.00011
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val) rs372179538 0.00011
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp) rs962321651 0.00011
NM_201384.3(PLEC):c.5966G>A (p.Arg1989His) rs782084501 0.00011
NM_201384.3(PLEC):c.6727C>A (p.Leu2243Ile) rs372627763 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.7730A>G (p.Glu2577Gly) rs549616678 0.00011
NM_201384.3(PLEC):c.7928A>G (p.Glu2643Gly) rs782259091 0.00011
NM_201384.3(PLEC):c.8062G>A (p.Val2688Met) rs562229143 0.00011
NM_201384.3(PLEC):c.8230C>T (p.Arg2744Trp) rs201184810 0.00011
NM_201384.3(PLEC):c.8789C>T (p.Ser2930Leu) rs369553188 0.00011
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln) rs552713184 0.00011
NM_201384.3(PLEC):c.9290C>T (p.Ser3097Leu) rs112196104 0.00011
NM_203486.3(DLL3):c.1623G>A (p.Pro541=) rs200988915 0.00011
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile) rs149647002 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr) rs369778428 0.00011
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln) rs369806765 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) rs141339026 0.00011
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys) rs148049006 0.00011
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu) rs145399306 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_207361.6(FREM2):c.*1666_*1667del rs534520921 0.00011
NM_207361.6(FREM2):c.3143A>G (p.Asn1048Ser) rs115192563 0.00011
NM_207361.6(FREM2):c.6273G>A (p.Ala2091=) rs769687764 0.00011
NM_213599.3(ANO5):c.1364G>A (p.Arg455His) rs772899863 0.00011
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn) rs146924667 0.00010
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000070.3(CAPN3):c.1524+3G>A rs374188055 0.00010
NM_000070.3(CAPN3):c.945+15G>A rs567256305 0.00010
NM_000070.3(CAPN3):c.980C>G (p.Ala327Gly) rs754441267 0.00010
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542 0.00010
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly) rs139188695 0.00010
NM_000163.5(GHR):c.*1797G>C rs769061479 0.00010
NM_000163.5(GHR):c.*941A>G rs886060644 0.00010
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000208.4(INSR):c.*4374G>A rs886054660 0.00010
NM_000211.5(ITGB2):c.1725C>T (p.Cys575=) rs373452460 0.00010
NM_000211.5(ITGB2):c.327A>G (p.Pro109=) rs199932521 0.00010
NM_000211.5(ITGB2):c.335C>T (p.Ala112Val) rs374494108 0.00010
NM_000211.5(ITGB2):c.77C>G (p.Thr26Arg) rs148038936 0.00010
NM_000211.5(ITGB2):c.892G>A (p.Glu298Lys) rs368371881 0.00010
NM_000232.5(SGCB):c.152G>A (p.Arg51His) rs143751283 0.00010
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) rs760845484 0.00010
NM_000260.4(MYO7A):c.1201-12A>G rs542772429 0.00010
NM_000260.4(MYO7A):c.1343+5C>T rs113261636 0.00010
NM_000260.4(MYO7A):c.1343+6G>A rs201886336 0.00010
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys) rs372366760 0.00010
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325 0.00010
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354 0.00010
NM_000271.5(NPC1):c.181-3A>G rs371126954 0.00010
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620 0.00010
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748 0.00010
NM_000271.5(NPC1):c.3811G>C (p.Glu1271Gln) rs140527006 0.00010
NM_000271.5(NPC1):c.962C>T (p.Ala321Val) rs138079168 0.00010
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
NM_000277.3(PAH):c.509+21G>T rs191700258 0.00010
NM_000286.3(PEX12):c.-147C>T rs559905700 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile) rs145335409 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile) rs865933425 0.00010
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00010
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val) rs377080927 0.00010
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys) rs750301725 0.00010
NM_000318.3(PEX2):c.152G>A (p.Arg51His) rs549242503 0.00010
NM_000320.3(QDPR):c.*31C>T rs377243912 0.00010
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser) rs147257284 0.00010
NM_000320.3(QDPR):c.29C>T (p.Ala10Val) rs371735382 0.00010
NM_000329.3(RPE65):c.859-11C>T rs369772824 0.00010
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000337.6(SGCD):c.*5467G>C rs749139391 0.00010
NM_000337.6(SGCD):c.*8380A>G rs556296196 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.576G>A (p.Pro192=) rs201809787 0.00010
NM_000370.3(TTPA):c.*1368C>G rs553853197 0.00010
NM_000382.3(ALDH3A2):c.65T>C (p.Phe22Ser) rs751631165 0.00010
NM_000414.4(HSD17B4):c.628G>A (p.Val210Met) rs1017610439 0.00010
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000441.2(SLC26A4):c.*1466T>A rs749750914 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg) rs200306465 0.00010
NM_000492.3(CFTR):c.-165G>A rs145483167 0.00010
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000553.6(WRN):c.2029G>A (p.Gly677Arg) rs747026081 0.00010
NM_000553.6(WRN):c.2423A>G (p.His808Arg) rs377012608 0.00010
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) rs146055899 0.00010
NM_000553.6(WRN):c.430C>G (p.Gln144Glu) rs878854139 0.00010
NM_000553.6(WRN):c.436A>G (p.Lys146Glu) rs752014453 0.00010
NM_000553.6(WRN):c.452T>A (p.Phe151Tyr) rs200456571 0.00010
NM_000553.6(WRN):c.514A>C (p.Thr172Pro) rs367991517 0.00010
NM_000553.6(WRN):c.77G>A (p.Cys26Tyr) rs550926459 0.00010
NM_000557.5(GDF5):c.-220C>T rs886056643 0.00010
NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro) rs377102404 0.00010
NM_000782.5(CYP24A1):c.-148T>C rs866472510 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001013693.3(LDLRAD2):c.*883C>T rs561927299 0.00010
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001038603.3(MARVELD2):c.*171G>A rs756878174 0.00010
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) rs139234053 0.00010
NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr) rs903013824 0.00010
NM_001042702.5(PJVK):c.298G>A (p.Val100Ile) rs200516108 0.00010
NM_001044385.3(TMEM237):c.*1148A>G rs558665286 0.00010
NM_001044385.3(TMEM237):c.*1762G>A rs886055441 0.00010
NM_001044385.3(TMEM237):c.*2465A>G rs527921749 0.00010
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr) rs576982977 0.00010
NM_001048166.1(STIL):c.*978T>C rs886046388 0.00010
NM_001048166.1(STIL):c.3157G>A (p.Gly1053Ser) rs201354921 0.00010
NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn) rs369376550 0.00010
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu) rs587780079 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu) rs769766446 0.00010
NM_001077365.2(POMT1):c.*105G>A rs886063539 0.00010
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001080476.3(GRXCR1):c.49C>T (p.Arg17Trp) rs762049276 0.00010
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001083961.2(WDR62):c.1696G>A (p.Val566Met) rs145392484 0.00010
NM_001098484.3(SLC4A4):c.*2365G>A rs886059612 0.00010
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00010
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 0.00010
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) rs368118099 0.00010
NM_001127671.2(LIFR):c.*1302T>G rs886060621 0.00010
NM_001127671.2(LIFR):c.*368A>C rs886060625 0.00010
NM_001127671.2(LIFR):c.*6248C>G rs560182899 0.00010
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) rs143568054 0.00010
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met) rs144422408 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001145809.2(MYH14):c.5990C>T (p.Thr1997Met) rs201986144 0.00010
NM_001146079.2(CLDN14):c.-136G>A rs886057053 0.00010
NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) rs371106978 0.00010
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) rs769398594 0.00010
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) rs762765901 0.00010
NM_001161403.3(LIMS2):c.533G>A (p.Arg178His) rs144584729 0.00010
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His) rs532149239 0.00010
NM_001199563.2(BVES):c.836A>G (p.His279Arg) rs767206976 0.00010
NM_001205254.2(OCLN):c.384C>T (p.Tyr128=) rs150730577 0.00010
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_001256317.3(TMPRSS3):c.*573C>T rs1042336424 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr) rs138234724 0.00010
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.21404-8C>G rs761542135 0.00010
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=) rs566454891 0.00010
NM_001267550.2(TTN):c.24020G>A (p.Arg8007Gln) rs765789516 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His) rs144587343 0.00010
NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr) rs183499397 0.00010
NM_001267550.2(TTN):c.26283C>T (p.Gly8761=) rs376046284 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.31762+4C>T rs368538884 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu) rs371752190 0.00010
NM_001267550.2(TTN):c.35959+5C>T rs758684276 0.00010
NM_001267550.2(TTN):c.37543+5G>T rs570767771 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln) rs747224934 0.00010
NM_001267550.2(TTN):c.5048G>A (p.Arg1683Gln) rs368122582 0.00010
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser) rs551538420 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met) rs372685222 0.00010
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr) rs886038878 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.65731A>G (p.Lys21911Glu) rs372565084 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys) rs763702243 0.00010
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala) rs200240728 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His) rs199895320 0.00010
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp) rs373623340 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His) rs774296358 0.00010
NM_001283009.2(RTEL1):c.2413+4C>T rs761756257 0.00010
NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp) rs373874416 0.00010
NM_001283009.2(RTEL1):c.3103C>T (p.Pro1035Ser) rs754768798 0.00010
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001286445.3(RIPOR2):c.1142C>G (p.Thr381Ser) rs765214729 0.00010
NM_001287.6(CLCN7):c.2073+4C>T rs768190489 0.00010
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677 0.00010
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) rs753972803 0.00010
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) rs372215354 0.00010
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile) rs201596535 0.00010
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413 0.00010
NM_001374623.1(PNPLA1):c.1062T>G (p.Pro354=) rs761075511 0.00010
NM_001374623.1(PNPLA1):c.1595+271C>T rs886061376 0.00010
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln) rs371007945 0.00010
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro) rs372910832 0.00010
NM_001378454.1(ALMS1):c.1433-3T>C rs367710998 0.00010
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr) rs773754661 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236 0.00010
NM_001379180.1(ESRRB):c.*2639C>G rs886050807 0.00010
NM_001379180.1(ESRRB):c.*3018G>C rs575642098 0.00010
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) rs372716023 0.00010
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) rs201720914 0.00010
NM_001384140.1(PCDH15):c.19C>A (p.Leu7Ile) rs762092314 0.00010
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=) rs140893140 0.00010
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val) rs369029215 0.00010
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00010
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp) rs771007568 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00010
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val) rs372842500 0.00010
NM_001813.3(CENPE):c.304C>T (p.His102Tyr) rs758681737 0.00010
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002161.6(IARS1):c.3457T>C (p.Cys1153Arg) rs141665010 0.00010
NM_002180.3(IGHMBP2):c.*565G>A rs935838633 0.00010
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995 0.00010
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) rs375300165 0.00010
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) rs759627672 0.00010
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 0.00010
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003 0.00010
NM_002230.4(JUP):c.-55C>T rs886052921 0.00010
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679 0.00010
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002241.5(KCNJ10):c.*171C>T rs539110996 0.00010
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys) rs145660751 0.00010
NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His) rs771531508 0.00010
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) rs1056743758 0.00010
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002617.4(PEX10):c.*835C>T rs886046136 0.00010
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_002617.4(PEX10):c.895G>A (p.Ala299Thr) rs371030713 0.00010
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) rs376560254 0.00010
NM_002700.3(POU4F3):c.624G>A (p.Val208=) rs759713394 0.00010
NM_002855.5(NECTIN1):c.*2439G>A rs899031960 0.00010
NM_002855.5(NECTIN1):c.*3425G>A rs963530966 0.00010
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys) rs372422266 0.00010
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp) rs149976198 0.00010
NM_003383.5(VLDLR):c.*460G>A rs550310153 0.00010
NM_003383.5(VLDLR):c.*63C>T rs17848373 0.00010
NM_003383.5(VLDLR):c.-392C>T rs867729388 0.00010
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_003619.4(PRSS12):c.2320+6G>C rs369283461 0.00010
NM_003630.3(PEX3):c.*1332A>G rs886061138 0.00010
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270 0.00010
NM_003673.4(TCAP):c.*292G>A rs185210946 0.00010
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_003759.4(SLC4A4):c.70T>A (p.Phe24Ile) rs200944017 0.00010
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_004100.5(EYA4):c.-124C>T rs886061088 0.00010
NM_004153.4(ORC1):c.1383T>C (p.Ser461=) rs200773796 0.00010
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu) rs537829489 0.00010
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) rs141238609 0.00010
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004525.3(LRP2):c.*1187T>A rs377389886 0.00010
NM_004525.3(LRP2):c.10398C>A (p.Ser3466Arg) rs148506069 0.00010
NM_004525.3(LRP2):c.12165G>C (p.Leu4055Phe) rs142650566 0.00010
NM_004525.3(LRP2):c.4503A>G (p.Arg1501=) rs752387780 0.00010
NM_004525.3(LRP2):c.4672G>A (p.Ala1558Thr) rs769548930 0.00010
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=) rs148473513 0.00010
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=) rs374380173 0.00010
NM_004560.4(ROR2):c.*38G>A rs367597436 0.00010
NM_004560.4(ROR2):c.146G>T (p.Gly49Val) rs201991252 0.00010
NM_004560.4(ROR2):c.1624G>A (p.Val542Met) rs140213020 0.00010
NM_004560.4(ROR2):c.1746G>A (p.Thr582=) rs201241207 0.00010
NM_004565.3(PEX14):c.818C>T (p.Ser273Leu) rs149801951 0.00010
NM_004744.5(LRAT):c.*549T>C rs886059165 0.00010
NM_004744.5(LRAT):c.*98C>T rs529360609 0.00010
NM_004813.4(PEX16):c.*557G>C rs770223341 0.00010
NM_004813.4(PEX16):c.499G>A (p.Val167Met) rs147332976 0.00010
NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val) rs886056419 0.00010
NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser) rs148953825 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004937.3(CTNS):c.*55C>G rs751680506 0.00010
NM_005199.5(CHRNG):c.543G>A (p.Gln181=) rs753990044 0.00010
NM_005219.5(DIAPH1):c.*1533C>T rs542820984 0.00010
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
NM_005522.5(HOXA1):c.549C>A (p.Leu183=) rs778780253 0.00010
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 0.00010
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp) rs752793818 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.2792G>A (p.Arg931His) rs372407090 0.00010
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=) rs544392697 0.00010
NM_005529.7(HSPG2):c.4900G>A (p.Gly1634Ser) rs372033039 0.00010
NM_005708.5(GPC6):c.*2799G>A rs886050359 0.00010
NM_005708.5(GPC6):c.1129G>A (p.Ala377Thr) rs779691812 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006208.3(ENPP1):c.*2966C>G rs1224210803 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln) rs770044946 0.00010
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly) rs770306576 0.00010
NM_006892.4(DNMT3B):c.*1405C>T rs547367297 0.00010
NM_006892.4(DNMT3B):c.115G>C (p.Glu39Gln) rs374913902 0.00010
NM_006892.4(DNMT3B):c.1309T>C (p.Ser437Pro) rs563597562 0.00010
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile) rs752495145 0.00010
NM_006892.4(DNMT3B):c.290G>A (p.Arg97His) rs200902224 0.00010
NM_006892.4(DNMT3B):c.592G>T (p.Gly198Trp) rs61758433 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_006996.3(SLC19A2):c.*1928T>C rs776987873 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00010
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr) rs782059726 0.00010
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) rs373735080 0.00010
NM_012188.5(FOXI1):c.*679C>T rs966422889 0.00010
NM_012210.4(TRIM32):c.*1354C>A rs763188009 0.00010
NM_012414.4(RAB3GAP2):c.*1559C>T rs962614083 0.00010
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) rs777627496 0.00010
NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser) rs750095303 0.00010
NM_012463.4(ATP6V0A2):c.*1454A>G rs3748272 0.00010
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_013382.7(POMT2):c.*693C>G rs752332125 0.00010
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_014042.3(ANAPC15):c.318+3A>G rs201099496 0.00010
NM_014053.4(FLVCR1):c.*2218C>T rs886045939 0.00010
NM_014321.4(ORC6):c.*582A>C rs570114406 0.00010
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) rs549957998 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201 0.00010
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00010
NM_014630.3(ZNF592):c.3136G>A (p.Gly1046Arg) rs150829393 0.00010
NM_014780.5(CUL7):c.4443G>A (p.Ala1481=) rs572367422 0.00010
NM_014780.5(CUL7):c.5072C>T (p.Thr1691Ile) rs140092102 0.00010
NM_014797.3(ZBTB24):c.334A>G (p.Thr112Ala) rs567279982 0.00010
NM_014956.5(CEP164):c.1934+3C>T rs369584565 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015102.5(NPHP4):c.-52G>T rs886046468 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 0.00010
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu) rs367694436 0.00010
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys) rs372688518 0.00010
NM_015102.5(NPHP4):c.2830G>A (p.Val944Ile) rs188262700 0.00010
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser) rs371368653 0.00010
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser) rs376675995 0.00010
NM_015102.5(NPHP4):c.870C>T (p.Gly290=) rs749844096 0.00010
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798 0.00010
NM_015294.6(TRIM37):c.-296G>T rs886053181 0.00010
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) rs202161016 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) rs776712642 0.00010
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224 0.00010
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704 0.00010
NM_016042.4(EXOSC3):c.*63T>G rs753180747 0.00010
NM_016122.3(CEP83):c.796C>G (p.Leu266Val) rs568103955 0.00010
NM_016239.4(MYO15A):c.-173T>A rs760728232 0.00010
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) rs369717113 0.00010
NM_016239.4(MYO15A):c.9602G>A (p.Arg3201Gln) rs757095519 0.00010
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_016373.4(WWOX):c.568G>A (p.Val190Met) rs769400934 0.00010
NM_016464.5(TMEM138):c.*92G>C rs372997712 0.00010
NM_016938.5(EFEMP2):c.*305C>T rs886048504 0.00010
NM_017433.5(MYO3A):c.4407T>C (p.Asn1469=) rs199843655 0.00010
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_017791.3(FLVCR2):c.*675A>G rs1025714059 0.00010
NM_018075.5(ANO10):c.*452A>G rs886058476 0.00010
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) rs147839989 0.00010
NM_018136.5(ASPM):c.9246T>C (p.Ser3082=) rs201050851 0.00010
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys) rs140679756 0.00010
NM_018249.6(CDK5RAP2):c.1627-9C>A rs773227041 0.00010
NM_018249.6(CDK5RAP2):c.2645T>C (p.Leu882Pro) rs367620982 0.00010
NM_018319.4(TDP1):c.*801G>A rs1017363264 0.00010
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) rs754747710 0.00010
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser) rs201508087 0.00010
NM_018699.4(PRDM5):c.*154A>T rs181244989 0.00010
NM_018718.3(CEP41):c.145+6del rs782483563 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_018965.4(TREM2):c.393C>T (p.Asp131=) rs139607688 0.00010
NM_018965.4(TREM2):c.574G>A (p.Ala192Thr) rs150277350 0.00010
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) rs146873580 0.00010
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532 0.00010
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905 0.00010
NM_020751.3(COG6):c.1891G>A (p.Val631Met) rs143909067 0.00010
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys) rs374158728 0.00010
NM_021252.5(RAB18):c.*2943A>G rs886046975 0.00010
NM_021252.5(RAB18):c.*3193C>T rs886046978 0.00010
NM_021252.5(RAB18):c.*4185G>A rs772242395 0.00010
NM_021628.3(ALOXE3):c.414G>A (p.Arg138=) rs201269701 0.00010
NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser) rs140915279 0.00010
NM_021956.5(GRIK2):c.1628G>A (p.Arg543His) rs141189363 0.00010
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser) rs56067702 0.00010
NM_021971.4(GMPPB):c.129+5G>A rs370203820 0.00010
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln) rs773087322 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022095.4(ZNF335):c.1441C>G (p.Arg481Gly) rs141481390 0.00010
NM_022098.4(XPNPEP3):c.*2406C>T rs189640184 0.00010
NM_022098.4(XPNPEP3):c.*5410G>A rs886057544 0.00010
NM_022124.6(CDH23):c.*85G>A rs886047144 0.00010
NM_022124.6(CDH23):c.137C>T (p.Thr46Met) rs727504613 0.00010
NM_022124.6(CDH23):c.2207G>A (p.Arg736Gln) rs377348311 0.00010
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) rs372158876 0.00010
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324 0.00010
NM_022124.6(CDH23):c.9771A>C (p.Gly3257=) rs373249121 0.00010
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_023077.3(COA7):c.113A>G (p.Tyr38Cys) rs753445023 0.00010
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln) rs545959971 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp) rs149920346 0.00010
NM_024685.4(BBS10):c.-48C>G rs752162179 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg) rs199745197 0.00010
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4737G>A (p.Pro1579=) rs373137263 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_025216.2(WNT10A):c.-270G>C rs774035749 0.00010
NM_025216.3(WNT10A):c.444G>A (p.Ala148=) rs147145554 0.00010
NM_031471.6(FERMT3):c.558G>A (p.Ser186=) rs747094642 0.00010
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) rs551546723 0.00010
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) rs190427962 0.00010
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) rs199798095 0.00010
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys) rs375450242 0.00010
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_032119.4(ADGRV1):c.18906C>T (p.Ala6302=) rs369528456 0.00010
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) rs141681122 0.00010
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146 0.00010
NM_032575.3(GLIS2):c.1326C>T (p.Ala442=) rs767819594 0.00010
NM_032575.3(GLIS2):c.291G>A (p.Ser97=) rs529581775 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_033064.5(ATCAY):c.*1535G>A rs886054422 0.00010
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_138694.4(PKHD1):c.*3345T>A rs530251992 0.00010
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.1694-10C>G rs745911880 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.857+4C>T rs61748156 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_144508.5(KNL1):c.5273A>G (p.Asn1758Ser) rs375582159 0.00010
NM_144508.5(KNL1):c.5607A>C (p.Thr1869=) rs375102589 0.00010
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_144991.3(TSPEAR):c.533C>T (p.Pro178Leu) rs782685093 0.00010
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser) rs369022568 0.00010
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln) rs142084136 0.00010
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp) rs951093397 0.00010
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser) rs562721694 0.00010
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063 0.00010
NM_153717.3(EVC):c.*2847G>A rs935054019 0.00010
NM_153717.3(EVC):c.*355C>G rs933138943 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_173685.4(NSMCE2):c.419-18C>T rs372016316 0.00010
NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser) rs368175674 0.00010
NM_182548.4(LHFPL5):c.*385C>T rs567038240 0.00010
NM_182961.4(SYNE1):c.-223-10T>C rs564226533 0.00010
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393 0.00010
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His) rs142444474 0.00010
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449 0.00010
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu) rs375977864 0.00010
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys) rs144244988 0.00010
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly) rs755740366 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys) rs757688642 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr) rs376169744 0.00010
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met) rs748509032 0.00010
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529 0.00010
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met) rs139798419 0.00010
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys) rs750573381 0.00010
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 0.00010
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) rs757175418 0.00010
NM_201384.3(PLEC):c.10607C>T (p.Thr3536Met) rs200187936 0.00010
NM_201384.3(PLEC):c.10919A>G (p.Tyr3640Cys) rs1271519533 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_201384.3(PLEC):c.11020C>T (p.Arg3674Cys) rs557562267 0.00010
NM_201384.3(PLEC):c.12863C>T (p.Thr4288Met) rs782574559 0.00010
NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys) rs200447944 0.00010
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu) rs781985768 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.1471C>T (p.Arg491Trp) rs201001882 0.00010
NM_201384.3(PLEC):c.2341C>T (p.Leu781Phe) rs782086242 0.00010
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp) rs782544250 0.00010
NM_201384.3(PLEC):c.5011C>T (p.Arg1671Cys) rs782189427 0.00010
NM_201384.3(PLEC):c.5240C>T (p.Thr1747Met) rs782103588 0.00010
NM_201384.3(PLEC):c.5498G>A (p.Arg1833Gln) rs369277699 0.00010
NM_201384.3(PLEC):c.6169G>A (p.Ala2057Thr) rs542184546 0.00010
NM_201384.3(PLEC):c.6631C>T (p.Arg2211Trp) rs377753306 0.00010
NM_201384.3(PLEC):c.6770G>A (p.Arg2257His) rs376311731 0.00010
NM_201384.3(PLEC):c.6830C>T (p.Ala2277Val) rs781888752 0.00010
NM_201384.3(PLEC):c.6842C>T (p.Ala2281Val) rs371130595 0.00010
NM_201384.3(PLEC):c.8443G>A (p.Val2815Ile) rs374195278 0.00010
NM_201384.3(PLEC):c.8576A>G (p.His2859Arg) rs368319348 0.00010
NM_201384.3(PLEC):c.9604G>A (p.Asp3202Asn) rs782598101 0.00010
NM_206933.4(USH2A):c.10585+4T>G rs372667667 0.00010
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser) rs371987720 0.00010
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser) rs139799843 0.00010
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=) rs149506333 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) rs145148501 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr) rs760777446 0.00010
NM_207361.6(FREM2):c.*1219G>A rs886050196 0.00010
NM_207361.6(FREM2):c.*2533A>G rs560168381 0.00010
NM_207361.6(FREM2):c.2075G>A (p.Arg692His) rs367642497 0.00010
NM_207361.6(FREM2):c.5790G>A (p.Pro1930=) rs114346379 0.00010
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_213599.3(ANO5):c.2235+4A>C rs372056234 0.00010
NM_213599.3(ANO5):c.2446G>A (p.Glu816Lys) rs145127621 0.00010
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys) rs200531045 0.00010
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NR_003051.4(RMRP):n.121C>T rs549849356 0.00010
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NM_000019.3(ACAT1):c.*344T>C rs776705661 0.00009
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys) rs143365858 0.00009
NM_000023.4(SGCA):c.155T>G (p.Val52Gly) rs148132791 0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000067.3(CA2):c.541C>T (p.Arg181Cys) rs377003627 0.00009
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
NM_000070.3(CAPN3):c.-300C>G rs886051147 0.00009
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg) rs747461807 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu) rs747399155 0.00009
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn) rs201642761 0.00009
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660 0.00009
NM_000083.3(CLCN1):c.2403+4A>C rs372826693 0.00009
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) rs145412643 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) rs890999119 0.00009
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) rs377136253 0.00009
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000123.4(ERCC5):c.1917A>G (p.Glu639=) rs765554006 0.00009
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457 0.00009
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982 0.00009
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000163.5(GHR):c.*670T>C rs566673833 0.00009
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser) rs771232307 0.00009
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser) rs138869083 0.00009
NM_000208.4(INSR):c.2117C>A (p.Ala706Asp) rs142391704 0.00009
NM_000208.4(INSR):c.575G>A (p.Gly192Asp) rs143919163 0.00009
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877 0.00009
NM_000211.5(ITGB2):c.733G>A (p.Ala245Thr) rs144280462 0.00009
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp) rs753684563 0.00009
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu) rs1348832741 0.00009
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) rs374412819 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000254.3(MTR):c.355A>G (p.Met119Val) rs538707626 0.00009
NM_000260.4(MYO7A):c.*142A>G rs369873505 0.00009
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) rs375457812 0.00009
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser) rs559446180 0.00009
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) rs782426472 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000260.4(MYO7A):c.3954C>T (p.His1318=) rs749218462 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.3815G>A (p.Arg1272His) rs563385810 0.00009
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963 0.00009
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp) rs139485263 0.00009
NM_000271.5(NPC1):c.985G>A (p.Ala329Thr) rs572337787 0.00009
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_000277.3(PAH):c.60+9C>T rs369454152 0.00009
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser) rs563487343 0.00009
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000287.4(PEX6):c.1637G>A (p.Arg546His) rs201061728 0.00009
NM_000302.4(PLOD1):c.*721T>G rs142707437 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met) rs752708558 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000317.3(PTS):c.174A>G (p.Thr58=) rs745627441 0.00009
NM_000318.3(PEX2):c.*1755A>G rs886063129 0.00009
NM_000318.3(PEX2):c.*2973T>C rs751974703 0.00009
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000360.4(TH):c.90G>A (p.Met30Ile) rs147416823 0.00009
NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=) rs201390270 0.00009
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107 0.00009
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu) rs138507337 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) rs199924410 0.00009
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331 0.00009
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) rs143980575 0.00009
NM_000492.4(CFTR):c.1584+4119C>T rs983323581 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000506.5(F2):c.317-4G>A rs375713715 0.00009
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=) rs748877741 0.00009
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys) rs370198638 0.00009
NM_000553.6(WRN):c.2231G>A (p.Gly744Glu) rs368402409 0.00009
NM_000553.6(WRN):c.2747A>C (p.His916Pro) rs754985773 0.00009
NM_000553.6(WRN):c.3623A>G (p.Lys1208Arg) rs529421538 0.00009
NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln) rs369185176 0.00009
NM_000760.4(CSF3R):c.1096G>A (p.Gly366Arg) rs768170625 0.00009
NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) rs766343562 0.00009
NM_000782.5(CYP24A1):c.*454G>A rs761330571 0.00009
NM_001013693.3(LDLRAD2):c.*1056C>T rs541474662 0.00009
NM_001013693.3(LDLRAD2):c.*502T>G rs886046026 0.00009
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln) rs148416461 0.00009
NM_001039958.2(MESP2):c.*118G>A rs1056747683 0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001042472.3(ABHD12):c.-82_-76del rs886056564 0.00009
NM_001042472.3(ABHD12):c.453C>T (p.Asn151=) rs375299452 0.00009
NM_001042545.2(LTBP4):c.443-14C>T rs375934176 0.00009
NM_001042702.5(PJVK):c.405A>C (p.Thr135=) rs373800401 0.00009
NM_001044385.3(TMEM237):c.*492T>C rs530304720 0.00009
NM_001044385.3(TMEM237):c.-61G>A rs571550977 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln) rs140156029 0.00009
NM_001077365.2(POMT1):c.*448C>T rs373799176 0.00009
NM_001077365.2(POMT1):c.*591C>T rs1012682271 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) rs375077045 0.00009
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=) rs758878104 0.00009
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) rs569193097 0.00009
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val) rs527442928 0.00009
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001083961.2(WDR62):c.4546G>A (p.Val1516Met) rs369708392 0.00009
NM_001098484.3(SLC4A4):c.*1761G>A rs886059607 0.00009
NM_001098484.3(SLC4A4):c.*3056A>G rs115315237 0.00009
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) rs145013450 0.00009
NM_001099287.2(NIPAL4):c.*290G>A rs377678793 0.00009
NM_001099287.2(NIPAL4):c.587-5C>A rs200497471 0.00009
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825 0.00009
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001111.5(ADAR):c.2762+6C>T rs371450928 0.00009
NM_001111.5(ADAR):c.865G>A (p.Asp289Asn) rs372242904 0.00009
NM_001122769.3(LCA5):c.1550G>T (p.Arg517Ile) rs140706052 0.00009
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp) rs371962473 0.00009
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) rs145754170 0.00009
NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro) rs143243841 0.00009
NM_001127671.2(LIFR):c.*1086A>C rs567657966 0.00009
NM_001127671.2(LIFR):c.*262A>G rs763998777 0.00009
NM_001127671.2(LIFR):c.*3182G>A rs758192947 0.00009
NM_001127671.2(LIFR):c.*3470G>T rs886467983 0.00009
NM_001127671.2(LIFR):c.*443C>T rs1011411405 0.00009
NM_001127671.2(LIFR):c.*4801A>G rs555849365 0.00009
NM_001127671.2(LIFR):c.*657C>T rs938116389 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu) rs745997859 0.00009
NM_001130987.2(DYSF):c.1577-1699C>T rs183489578 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) rs562925562 0.00009
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) rs371841411 0.00009
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) rs202061751 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) rs772664716 0.00009
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) rs370866476 0.00009
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001139.3(ALOX12B):c.1050G>A (p.Lys350=) rs144280751 0.00009
NM_001143992.2(WRAP53):c.-62C>T rs748265946 0.00009
NM_001145809.2(MYH14):c.1833C>T (p.Val611=) rs775077510 0.00009
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) rs377462520 0.00009
NM_001145809.2(MYH14):c.4164G>A (p.Ala1388=) rs573932338 0.00009
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) rs201233141 0.00009
NM_001160372.4(TRAPPC9):c.2556+7T>G rs185632960 0.00009
NM_001161403.3(LIMS2):c.12-6769C>G rs924276736 0.00009
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val) rs138275119 0.00009
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) rs369410139 0.00009
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) rs748500639 0.00009
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) rs201334880 0.00009
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001184.4(ATR):c.2532+4G>A rs190596919 0.00009
NM_001184.4(ATR):c.7041+4G>C rs113544835 0.00009
NM_001194998.2(CEP152):c.*255T>C rs187213125 0.00009
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_001242481.2(EIF1AD):c.-308C>G rs886048512 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001256317.3(TMPRSS3):c.616+5G>A rs138768408 0.00009
NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met) rs147189374 0.00009
NM_001267550.2(TTN):c.*25C>T rs370597649 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=) rs375120372 0.00009
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val) rs370890922 0.00009
NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys) rs568460311 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln) rs368151146 0.00009
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg) rs377579941 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His) rs745578038 0.00009
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser) rs368692616 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162 0.00009
NM_001267550.2(TTN):c.2061A>G (p.Gln687=) rs188680791 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.26674G>A (p.Val8892Ile) rs747832107 0.00009
NM_001267550.2(TTN):c.27049+10C>A rs780979988 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.30033A>G (p.Gln10011=) rs768497622 0.00009
NM_001267550.2(TTN):c.30355G>C (p.Glu10119Gln) rs778565859 0.00009
NM_001267550.2(TTN):c.31208-13G>A rs377135196 0.00009
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln) rs727504757 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg) rs372841136 0.00009
NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu) rs199975096 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn) rs568151115 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu) rs561284948 0.00009
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp) rs372443762 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu) rs369648778 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.61337G>A (p.Arg20446His) rs368278158 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=) rs369255906 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His) rs374883884 0.00009
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp) rs750853901 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile) rs570615498 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) rs376634713 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His) rs755972883 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser) rs200148139 0.00009
NM_001267550.2(TTN):c.98989+12A>C rs72648275 0.00009
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val) rs200933423 0.00009
NM_001283009.2(RTEL1):c.3137G>A (p.Gly1046Glu) rs772914279 0.00009
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) rs371424977 0.00009
NM_001329943.3(KIAA0586):c.411-1359T>G rs1051790402 0.00009
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys) rs759334733 0.00009
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=) rs371233272 0.00009
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu) rs149289353 0.00009
NM_001366722.1(GRIP1):c.1794C>A (p.Asp598Glu) rs371673578 0.00009
NM_001366722.1(GRIP1):c.3199G>C (p.Val1067Leu) rs116894395 0.00009
NM_001367624.2(ZNF469):c.*492G>A rs190108769 0.00009
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=) rs577775261 0.00009
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=) rs533072680 0.00009
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile) rs370726988 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe) rs575644902 0.00009
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys) rs770645262 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg) rs371101065 0.00009
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser) rs765233016 0.00009
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His) rs373906628 0.00009
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg) rs375167917 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.4314+12C>T rs775304664 0.00009
NM_001379286.1(ZNF423):c.146C>T (p.Ala49Val) rs147379553 0.00009
NM_001379286.1(ZNF423):c.1522C>T (p.Arg508Cys) rs376465155 0.00009
NM_001379286.1(ZNF423):c.2665G>A (p.Ala889Thr) rs373166241 0.00009
NM_001379286.1(ZNF423):c.805G>T (p.Asp269Tyr) rs569889555 0.00009
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) rs371681100 0.00009
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) rs201884732 0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) rs763390190 0.00009
NM_001384140.1(PCDH15):c.1712T>C (p.Val571Ala) rs780503140 0.00009
NM_001384140.1(PCDH15):c.1978G>C (p.Val660Leu) rs373482210 0.00009
NM_001384140.1(PCDH15):c.1997C>T (p.Thr666Ile) rs146121822 0.00009
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_001384140.1(PCDH15):c.2891G>A (p.Arg964Lys) rs149605588 0.00009
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu) rs776769626 0.00009
NM_001384474.1(LOXHD1):c.2839G>A (p.Asp947Asn) rs371808826 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_001393500.2(TOMT):c.551G>A (p.Arg184Gln) rs372524977 0.00009
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) rs781981910 0.00009
NM_001692.4(ATP6V1B1):c.750C>T (p.Asn250=) rs185606441 0.00009
NM_001692.4(ATP6V1B1):c.752T>G (p.Val251Gly) rs370481432 0.00009
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) rs146256515 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val) rs779639460 0.00009
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His) rs756408576 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser) rs781619412 0.00009
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala) rs141317511 0.00009
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro) rs200761921 0.00009
NM_002310.6(LIFR):c.-118G>A rs573436558 0.00009
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) rs201793593 0.00009
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) rs113007633 0.00009
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_002485.5(NBN):c.*522T>C rs886063164 0.00009
NM_002485.5(NBN):c.*829T>A rs752958453 0.00009
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys) rs199667764 0.00009
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser) rs761942658 0.00009
NM_002618.4(PEX13):c.*1005C>A rs375607663 0.00009
NM_002618.4(PEX13):c.*2229C>T rs1048932355 0.00009
NM_002618.4(PEX13):c.*851A>G rs917019488 0.00009
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn) rs763566050 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002700.3(POU4F3):c.214C>G (p.His72Asp) rs370712489 0.00009
NM_002855.5(NECTIN1):c.*1184G>T rs370017613 0.00009
NM_002855.5(NECTIN1):c.*2551T>G rs570496726 0.00009
NM_002855.5(NECTIN1):c.*853C>G rs368934157 0.00009
NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser) rs539461545 0.00009
NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu) rs202095358 0.00009
NM_002855.5(NECTIN1):c.502C>T (p.Leu168=) rs149093951 0.00009
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343 0.00009
NM_002906.4(RDX):c.*2253C>T rs1264792297 0.00009
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) rs146019940 0.00009
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg) rs149350224 0.00009
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_003801.4(GPAA1):c.1598C>T (p.Ala533Val) rs200059746 0.00009
NM_003896.4(ST3GAL5):c.1126G>A (p.Asp376Asn) rs147305893 0.00009
NM_003896.4(ST3GAL5):c.319-8C>A rs553252258 0.00009
NM_003896.4(ST3GAL5):c.356A>G (p.Glu119Gly) rs368983131 0.00009
NM_003896.4(ST3GAL5):c.580C>T (p.Arg194Cys) rs377626779 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004086.3(COCH):c.266C>A (p.Pro89His) rs149903169 0.00009
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala) rs149838438 0.00009
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) rs143573515 0.00009
NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) rs200549155 0.00009
NM_004415.4(DSP):c.*58T>C rs753281894 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_004525.3(LRP2):c.11498-13T>C rs368956978 0.00009
NM_004525.3(LRP2):c.11851G>A (p.Asp3951Asn) rs761977482 0.00009
NM_004525.3(LRP2):c.2422A>G (p.Ile808Val) rs772261621 0.00009
NM_004525.3(LRP2):c.3668-3T>A rs754632512 0.00009
NM_004525.3(LRP2):c.4604T>C (p.Val1535Ala) rs754354761 0.00009
NM_004525.3(LRP2):c.5095A>G (p.Asn1699Asp) rs774435995 0.00009
NM_004525.3(LRP2):c.5123G>A (p.Arg1708His) rs142221587 0.00009
NM_004525.3(LRP2):c.7284T>G (p.Ser2428Arg) rs373362950 0.00009
NM_004525.3(LRP2):c.7514G>A (p.Arg2505His) rs371708810 0.00009
NM_004525.3(LRP2):c.9811G>A (p.Ala3271Thr) rs1051668841 0.00009
NM_004525.3(LRP2):c.9945C>A (p.Asn3315Lys) rs201808907 0.00009
NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) rs201425107 0.00009
NM_004560.4(ROR2):c.2782G>C (p.Asp928His) rs199855010 0.00009
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004565.3(PEX14):c.766G>A (p.Val256Met) rs143378690 0.00009
NM_004565.3(PEX14):c.884C>A (p.Pro295His) rs545357144 0.00009
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu) rs779813719 0.00009
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 0.00009
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) rs137927384 0.00009
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_004937.3(CTNS):c.*1176C>G rs553878990 0.00009
NM_004937.3(CTNS):c.*2036G>A rs184828971 0.00009
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu) rs548772179 0.00009
NM_004999.4(MYO6):c.*4506T>C rs766637637 0.00009
NM_005219.5(DIAPH1):c.*533G>A rs886060031 0.00009
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln) rs200606416 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) rs200367148 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=) rs151039517 0.00009
NM_005529.7(HSPG2):c.6952G>A (p.Glu2318Lys) rs372259670 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.8805C>T (p.His2935=) rs201338722 0.00009
NM_005529.7(HSPG2):c.8847C>T (p.Pro2949=) rs371076634 0.00009
NM_005529.7(HSPG2):c.9284A>G (p.Asn3095Ser) rs765463910 0.00009
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile) rs773192982 0.00009
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006019.4(TCIRG1):c.1042G>A (p.Val348Met) rs146023337 0.00009
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg) rs765175241 0.00009
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys) rs528045019 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.574G>A (p.Gly192Ser) rs371658110 0.00009
NM_006019.4(TCIRG1):c.904G>A (p.Val302Met) rs540235063 0.00009
NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser) rs775576535 0.00009
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_006208.3(ENPP1):c.*4346T>A rs374532158 0.00009
NM_006208.3(ENPP1):c.*485C>A rs563326994 0.00009
NM_006208.3(ENPP1):c.154C>T (p.Pro52Ser) rs754866098 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr) rs369444528 0.00009
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser) rs761616528 0.00009
NM_006642.5(SDCCAG8):c.220+3G>A rs370361491 0.00009
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln) rs149038104 0.00009
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys) rs769004589 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
NM_006846.4(SPINK5):c.*301C>T rs187725907 0.00009
NM_006846.4(SPINK5):c.1078G>A (p.Ala360Thr) rs529385811 0.00009
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val) rs756226553 0.00009
NM_006892.4(DNMT3B):c.2236G>A (p.Val746Met) rs139777286 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 0.00009
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu) rs761591526 0.00009
NM_012210.4(TRIM32):c.979A>G (p.Met327Val) rs373287765 0.00009
NM_012233.3(RAB3GAP1):c.*1534G>A rs994607354 0.00009
NM_012414.4(RAB3GAP2):c.*2550G>C rs886046009 0.00009
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 0.00009
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) rs143415462 0.00009
NM_012448.4(STAT5B):c.637G>T (p.Ala213Ser) rs377601290 0.00009
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00009
NM_012463.4(ATP6V0A2):c.*742G>A rs964496583 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile) rs745438072 0.00009
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr) rs151043830 0.00009
NM_013382.7(POMT2):c.*1749C>A rs543216671 0.00009
NM_013382.7(POMT2):c.*727C>T rs980293755 0.00009
NM_013382.7(POMT2):c.*766C>T rs552352814 0.00009
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.424A>G (p.Met142Val) rs148938943 0.00009
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) rs576822260 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_014028.4(OSTM1):c.*751C>T rs925420631 0.00009
NM_014053.4(FLVCR1):c.*2480T>G rs886045941 0.00009
NM_014264.5(PLK4):c.926A>G (p.Lys309Arg) rs543250835 0.00009
NM_014321.4(ORC6):c.*576dup rs771626686 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr) rs748753412 0.00009
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr) rs199553226 0.00009
NM_014425.5(INVS):c.284G>A (p.Arg95His) rs372088206 0.00009
NM_014425.5(INVS):c.307C>T (p.Arg103Cys) rs750863293 0.00009
NM_014425.5(INVS):c.3099C>T (p.Asn1033=) rs368303175 0.00009
NM_014780.5(CUL7):c.3284G>A (p.Arg1095His) rs188419107 0.00009
NM_014780.5(CUL7):c.3915G>A (p.Leu1305=) rs376630030 0.00009
NM_014918.5(CHSY1):c.539G>A (p.Arg180His) rs770812991 0.00009
NM_014956.5(CEP164):c.2704G>A (p.Val902Met) rs144279354 0.00009
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del) rs749738679 0.00009
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp) rs139444171 0.00009
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu) rs531161184 0.00009
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val) rs143919649 0.00009
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015102.5(NPHP4):c.1230G>T (p.Gln410His) rs368074369 0.00009
NM_015102.5(NPHP4):c.1668C>T (p.Thr556=) rs753733095 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met) rs377729557 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=) rs187149431 0.00009
NM_015102.5(NPHP4):c.3445C>T (p.Arg1149Cys) rs201605415 0.00009
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile) rs746967083 0.00009
NM_015102.5(NPHP4):c.853C>T (p.Arg285Trp) rs201680615 0.00009
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015275.3(WASHC4):c.2423G>A (p.Arg808Gln) rs746822124 0.00009
NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg) rs369855750 0.00009
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) rs377378051 0.00009
NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) rs747837754 0.00009
NM_015311.3(OBSL1):c.367T>C (p.Ser123Pro) rs748291209 0.00009
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) rs560822587 0.00009
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) rs200449388 0.00009
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) rs548462567 0.00009
NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg) rs549049375 0.00009
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg) rs146589155 0.00009
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) rs781583583 0.00009
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys) rs199896513 0.00009
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His) rs147891080 0.00009
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His) rs145065164 0.00009
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr) rs144620711 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr) rs746868013 0.00009
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_015910.7(WDPCP):c.*541C>G rs532612381 0.00009
NM_015910.7(WDPCP):c.1055T>A (p.Leu352Gln) rs373387599 0.00009
NM_015910.7(WDPCP):c.2159-13T>C rs202221613 0.00009
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606 0.00009
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met) rs150734795 0.00009
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His) rs552189642 0.00009
NM_016239.4(MYO15A):c.3757-13G>A rs370530786 0.00009
NM_016239.4(MYO15A):c.642C>T (p.Phe214=) rs766970263 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) rs201073816 0.00009
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) rs201542989 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016239.4(MYO15A):c.9665G>A (p.Arg3222His) rs201712137 0.00009
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr) rs371392600 0.00009
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln) rs199625891 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_016373.4(WWOX):c.482C>T (p.Ala161Val) rs369055872 0.00009
NM_016464.5(TMEM138):c.128+3G>T rs754691659 0.00009
NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=) rs139504940 0.00009
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn) rs3737274 0.00009
NM_017739.4(POMGNT1):c.-141A>G rs886046387 0.00009
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515 0.00009
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val) rs375624381 0.00009
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017791.3(FLVCR2):c.*510A>G rs182904017 0.00009
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_018075.5(ANO10):c.*418T>C rs1009967018 0.00009
NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn) rs187425614 0.00009
NM_018075.5(ANO10):c.799A>G (p.Asn267Asp) rs143322256 0.00009
NM_018109.4(MTPAP):c.346G>A (p.Val116Ile) rs560622337 0.00009
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln) rs62623433 0.00009
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr) rs777352982 0.00009
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00009
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val) rs150906798 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018249.6(CDK5RAP2):c.1192C>T (p.Arg398Cys) rs760516442 0.00009
NM_018249.6(CDK5RAP2):c.2793+13A>G rs185091392 0.00009
NM_018249.6(CDK5RAP2):c.3003G>A (p.Thr1001=) rs373365484 0.00009
NM_018249.6(CDK5RAP2):c.3361A>G (p.Thr1121Ala) rs201849065 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_018319.4(TDP1):c.*776T>C rs761481355 0.00009
NM_018319.4(TDP1):c.15C>T (p.Gly5=) rs779666160 0.00009
NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe) rs368455704 0.00009
NM_018451.5(CENPJ):c.*520A>G rs547113186 0.00009
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) rs147796327 0.00009
NM_018718.3(CEP41):c.*1644A>G rs533265295 0.00009
NM_018718.3(CEP41):c.*2111A>G rs180725211 0.00009
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_018972.4(GDAP1):c.*1183G>A rs756257305 0.00009
NM_018972.4(GDAP1):c.*618C>T rs886063106 0.00009
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr) rs375536495 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_020458.4(TTC7A):c.1073G>A (p.Arg358Gln) rs752771480 0.00009
NM_020458.4(TTC7A):c.1363G>A (p.Ala455Thr) rs147112070 0.00009
NM_020458.4(TTC7A):c.1684C>T (p.Arg562Cys) rs145006355 0.00009
NM_020458.4(TTC7A):c.1705C>T (p.Leu569Phe) rs772552000 0.00009
NM_020458.4(TTC7A):c.2225C>G (p.Pro742Arg) rs143675924 0.00009
NM_020458.4(TTC7A):c.2407C>T (p.Arg803Cys) rs374843304 0.00009
NM_020458.4(TTC7A):c.692C>T (p.Pro231Leu) rs367648748 0.00009
NM_020458.4(TTC7A):c.806G>A (p.Arg269Gln) rs200332198 0.00009
NM_020631.5(PLEKHG5):c.*801G>A rs886046491 0.00009
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp) rs189468475 0.00009
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu) rs369440409 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) rs140896827 0.00009
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg) rs371213982 0.00009
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020751.3(COG6):c.1760G>A (p.Arg587His) rs191156299 0.00009
NM_020779.4(WDR35):c.*2559A>G rs751743368 0.00009
NM_020779.4(WDR35):c.*2887T>C rs749198501 0.00009
NM_020779.4(WDR35):c.*712A>T rs572859023 0.00009
NM_020964.3(EPG5):c.2332A>G (p.Thr778Ala) rs201694766 0.00009
NM_020964.3(EPG5):c.3791C>T (p.Ala1264Val) rs374324769 0.00009
NM_020964.3(EPG5):c.4597G>A (p.Ala1533Thr) rs374899586 0.00009
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn) rs201062477 0.00009
NM_020964.3(EPG5):c.6292G>T (p.Val2098Phe) rs377726262 0.00009
NM_021252.5(RAB18):c.*3222C>T rs751337334 0.00009
NM_021628.3(ALOXE3):c.412C>T (p.Arg138Trp) rs765090449 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala) rs201263451 0.00009
NM_021942.6(TRAPPC11):c.151A>G (p.Ile51Val) rs141053214 0.00009
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg) rs146053783 0.00009
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His) rs564643512 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp) rs144898239 0.00009
NM_022098.4(XPNPEP3):c.*1964G>T rs184334715 0.00009
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala) rs199693203 0.00009
NM_022098.4(XPNPEP3):c.792+13T>C rs376777685 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394 0.00009
NM_022124.6(CDH23):c.2939C>T (p.Thr980Met) rs535416598 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743 0.00009
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872 0.00009
NM_022124.6(CDH23):c.4863C>T (p.Tyr1621=) rs374797859 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu) rs376453794 0.00009
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met) rs772949926 0.00009
NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val) rs368394419 0.00009
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532 0.00009
NM_022124.6(CDH23):c.8979+4C>T rs775540400 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln) rs372676235 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_022168.4(IFIH1):c.454-1G>T rs148590996 0.00009
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) rs180843163 0.00009
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro) rs185697854 0.00009
NM_024570.4(RNASEH2B):c.*76T>A rs750903767 0.00009
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) rs138649673 0.00009
NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) rs376996626 0.00009
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) rs200814676 0.00009
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His) rs187985767 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln) rs368553507 0.00009
NM_025074.7(FRAS1):c.*2369C>T rs959327675 0.00009
NM_025074.7(FRAS1):c.*415A>G rs759045899 0.00009
NM_025074.7(FRAS1):c.*761A>G rs975095044 0.00009
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) rs137923783 0.00009
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) rs376814395 0.00009
NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr) rs200123398 0.00009
NM_025077.4(TOE1):c.52+115G>A rs916470183 0.00009
NM_025114.4(CEP290):c.1523-6T>C rs755202424 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321 0.00009
NM_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) rs1430138108 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu) rs749622020 0.00009
NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu) rs370035886 0.00009
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln) rs754191323 0.00009
NM_032492.4(JAGN1):c.89+4T>C rs571856698 0.00009
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys) rs144696430 0.00009
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys) rs567843031 0.00009
NM_033064.5(ATCAY):c.*1632T>C rs546859649 0.00009
NM_033064.5(ATCAY):c.*2742C>T rs769121113 0.00009
NM_033064.5(ATCAY):c.*740G>A rs569661909 0.00009
NM_033064.5(ATCAY):c.359-14C>T rs753594529 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg) rs776094274 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_080628.3(TLDC2):c.*18-292C>T rs886056646 0.00009
NM_133379.5(TTN):c.11699T>C (p.Ile3900Thr) rs144799515 0.00009
NM_138387.4(G6PC3):c.-178C>A rs767632217 0.00009
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln) rs750355531 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_138694.4(PKHD1):c.*1244G>A rs917933676 0.00009
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511 0.00009
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=) rs373795139 0.00009
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) rs375018718 0.00009
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) rs754678339 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_144508.5(KNL1):c.2676T>C (p.Asp892=) rs374301092 0.00009
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 0.00009
NM_145702.4(TIGD1):c.*2197C>T rs975418556 0.00009
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) rs376275481 0.00009
NM_152618.3(BBS12):c.-157C>T rs886059055 0.00009
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.542C>G (p.Ser181Cys) rs765425168 0.00009
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr) rs371153231 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695 0.00009
NM_153676.4(USH1C):c.1199G>A (p.Arg400His) rs750721690 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_170784.3(MKKS):c.*21A>G rs532973454 0.00009
NM_174878.3(CLRN1):c.*90A>G rs780643561 0.00009
NM_174878.3(CLRN1):c.*9C>G rs201624666 0.00009
NM_176824.3(BBS7):c.*724C>T rs1025886041 0.00009
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) rs141224967 0.00009
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu) rs747055521 0.00009
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln) rs749970544 0.00009
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile) rs969339085 0.00009
NM_178170.3(NEK8):c.1043C>T (p.Thr348Met) rs376531637 0.00009
NM_182961.4(SYNE1):c.-305G>T rs949603195 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln) rs763557674 0.00009
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785 0.00009
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878 0.00009
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp) rs767636254 0.00009
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr) rs150761564 0.00009
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val) rs143916942 0.00009
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000 0.00009
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile) rs771840766 0.00009
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439 0.00009
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro) rs752135269 0.00009
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met) rs767144952 0.00009
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile) rs757079165 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669 0.00009
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu) rs138707300 0.00009
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_182961.4(SYNE1):c.21195+12A>G rs200930593 0.00009
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser) rs150723622 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala) rs746347703 0.00009
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074 0.00009
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116 0.00009
NM_182961.4(SYNE1):c.24977-5C>T rs767722883 0.00009
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met) rs147814237 0.00009
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln) rs575386895 0.00009
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile) rs148785548 0.00009
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546 0.00009
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005 0.00009
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10204G>A (p.Val3402Met) rs561251865 0.00009
NM_201384.3(PLEC):c.10303G>A (p.Gly3435Ser) rs375044211 0.00009
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met) rs202001247 0.00009
NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys) rs200653006 0.00009
NM_201384.3(PLEC):c.10921G>A (p.Asp3641Asn) rs146233901 0.00009
NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys) rs782194334 0.00009
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu) rs377598440 0.00009
NM_201384.3(PLEC):c.1153C>T (p.Arg385Cys) rs782439302 0.00009
NM_201384.3(PLEC):c.11656C>T (p.Arg3886Cys) rs782736598 0.00009
NM_201384.3(PLEC):c.12208G>A (p.Gly4070Ser) rs201751379 0.00009
NM_201384.3(PLEC):c.12572A>G (p.Lys4191Arg) rs782075595 0.00009
NM_201384.3(PLEC):c.12830C>T (p.Thr4277Met) rs369593768 0.00009
NM_201384.3(PLEC):c.13282G>A (p.Val4428Met) rs781960986 0.00009
NM_201384.3(PLEC):c.13543A>G (p.Met4515Val) rs199960172 0.00009
NM_201384.3(PLEC):c.3023G>A (p.Arg1008Gln) rs374666787 0.00009
NM_201384.3(PLEC):c.3050G>A (p.Arg1017Gln) rs782374414 0.00009
NM_201384.3(PLEC):c.3352G>A (p.Val1118Met) rs369022362 0.00009
NM_201384.3(PLEC):c.3685C>T (p.Arg1229Trp) rs781861123 0.00009
NM_201384.3(PLEC):c.3863C>T (p.Thr1288Met) rs372055596 0.00009
NM_201384.3(PLEC):c.4186C>T (p.Arg1396Cys) rs782175129 0.00009
NM_201384.3(PLEC):c.4559G>A (p.Arg1520His) rs373423314 0.00009
NM_201384.3(PLEC):c.4561G>A (p.Val1521Met) rs782046910 0.00009
NM_201384.3(PLEC):c.4735C>A (p.Gln1579Lys) rs782612282 0.00009
NM_201384.3(PLEC):c.4820G>A (p.Arg1607Gln) rs782604134 0.00009
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) rs782026068 0.00009
NM_201384.3(PLEC):c.4886G>A (p.Arg1629Gln) rs782516531 0.00009
NM_201384.3(PLEC):c.5003A>C (p.Glu1668Ala) rs782670264 0.00009
NM_201384.3(PLEC):c.5014G>A (p.Glu1672Lys) rs782791575 0.00009
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp) rs782410213 0.00009
NM_201384.3(PLEC):c.5414G>A (p.Arg1805His) rs782438887 0.00009
NM_201384.3(PLEC):c.5878C>T (p.Arg1960Cys) rs540421549 0.00009
NM_201384.3(PLEC):c.5926G>A (p.Ala1976Thr) rs575730624 0.00009
NM_201384.3(PLEC):c.6005G>A (p.Arg2002Gln) rs781868030 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00009
NM_201384.3(PLEC):c.6523G>A (p.Glu2175Lys) rs375723079 0.00009
NM_201384.3(PLEC):c.6575G>A (p.Arg2192Gln) rs782640089 0.00009
NM_201384.3(PLEC):c.6857C>T (p.Ala2286Val) rs199720565 0.00009
NM_201384.3(PLEC):c.7346G>A (p.Arg2449Gln) rs782523623 0.00009
NM_201384.3(PLEC):c.7357G>A (p.Ala2453Thr) rs782611923 0.00009
NM_201384.3(PLEC):c.7823C>T (p.Ala2608Val) rs370351676 0.00009
NM_201384.3(PLEC):c.7939G>A (p.Asp2647Asn) rs782492323 0.00009
NM_201384.3(PLEC):c.793G>A (p.Val265Met) rs376947863 0.00009
NM_201384.3(PLEC):c.8545G>A (p.Asp2849Asn) rs200360391 0.00009
NM_201384.3(PLEC):c.9080C>T (p.Ala3027Val) rs368619368 0.00009
NM_201384.3(PLEC):c.9154G>A (p.Asp3052Asn) rs375732878 0.00009
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00009
NM_201384.3(PLEC):c.9308C>T (p.Thr3103Ile) rs201848397 0.00009
NM_203486.3(DLL3):c.1123C>T (p.Leu375=) rs777253263 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser) rs147214756 0.00009
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr) rs372327495 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys) rs777874309 0.00009
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser) rs139556361 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu) rs140955723 0.00009
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) rs367693972 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr) rs180994250 0.00009
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=) rs767648070 0.00009
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser) rs139089840 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr) rs142234324 0.00009
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg) rs139649540 0.00009
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His) rs200726531 0.00009
NM_207361.6(FREM2):c.4038G>A (p.Gly1346=) rs139044304 0.00009
NM_207361.6(FREM2):c.6957C>A (p.His2319Gln) rs182710790 0.00009
NM_207361.6(FREM2):c.7216-5C>T rs534318261 0.00009
NM_207361.6(FREM2):c.8160A>C (p.Pro2720=) rs200528879 0.00009
NM_207361.6(FREM2):c.9238C>T (p.Leu3080=) rs138154238 0.00009
NM_213599.3(ANO5):c.1420G>A (p.Val474Ile) rs750702622 0.00009
NM_213599.3(ANO5):c.1553G>C (p.Gly518Ala) rs201463445 0.00009
NM_213599.3(ANO5):c.479G>A (p.Arg160His) rs150652958 0.00009
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp) rs199952982 0.00008
NM_000023.4(SGCA):c.983A>T (p.Asp328Val) rs966135192 0.00008
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) rs141269464 0.00008
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000067.3(CA2):c.*173T>C rs1041356270 0.00008
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258 0.00008
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg) rs146740678 0.00008
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) rs143506735 0.00008
NM_000083.3(CLCN1):c.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=) rs372662617 0.00008
NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=) rs761650522 0.00008
NM_000163.5(GHR):c.1146C>T (p.Gly382=) rs533441671 0.00008
NM_000163.5(GHR):c.182G>A (p.Arg61Gln) rs747723725 0.00008
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met) rs1454369607 0.00008
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp) rs374679518 0.00008
NM_000208.4(INSR):c.*97A>G rs1030133375 0.00008
NM_000208.4(INSR):c.*999A>G rs372034184 0.00008
NM_000208.4(INSR):c.2596G>A (p.Val866Ile) rs200110540 0.00008
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000211.5(ITGB2):c.1349G>A (p.Arg450Gln) rs764262758 0.00008
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile) rs201329880 0.00008
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000260.4(MYO7A):c.1895T>G (p.Phe632Cys) rs782785036 0.00008
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) rs376169396 0.00008
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) rs782276809 0.00008
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) rs758332732 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.3924+8C>T rs565801140 0.00008
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys) rs202111392 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.519G>A (p.Gln173=) rs369757929 0.00008
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334 0.00008
NM_000286.3(PEX12):c.*38C>T rs756694664 0.00008
NM_000318.3(PEX2):c.*627G>T rs145960090 0.00008
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723 0.00008
NM_000320.3(QDPR):c.*278G>A rs765235173 0.00008
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) rs187198628 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000337.6(SGCD):c.*1047C>T rs999149586 0.00008
NM_000337.6(SGCD):c.*7298A>C rs886060321 0.00008
NM_000337.6(SGCD):c.*7507A>G rs75641902 0.00008
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560 0.00008
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) rs749372185 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166 0.00008
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met) rs576710089 0.00008
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000553.6(WRN):c.1840A>G (p.Ile614Val) rs577000913 0.00008
NM_000553.6(WRN):c.3819+5G>C rs770289356 0.00008
NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) rs34362628 0.00008
NM_000760.4(CSF3R):c.1484G>C (p.Arg495Thr) rs769045336 0.00008
NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala) rs565088221 0.00008
NM_000782.5(CYP24A1):c.*1122A>C rs564857266 0.00008
NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=) rs373504037 0.00008
NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile) rs770028088 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 0.00008
NM_001017420.3(ESCO2):c.*770A>C rs773539224 0.00008
NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val) rs201354290 0.00008
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) rs780327292 0.00008
NM_001023570.4(IQCB1):c.68A>G (p.Gln23Arg) rs200205161 0.00008
NM_001040167.2(LFNG):c.559C>T (p.Arg187Cys) rs764283232 0.00008
NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His) rs574587568 0.00008
NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe) rs886054445 0.00008
NM_001042702.5(PJVK):c.946A>C (p.Asn316His) rs776028922 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr) rs147923905 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001079866.2(BCS1L):c.499G>A (p.Val167Met) rs200882008 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001083961.2(WDR62):c.*45G>C rs769679657 0.00008
NM_001083961.2(WDR62):c.2814T>C (p.Ser938=) rs759280288 0.00008
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736 0.00008
NM_001122769.3(LCA5):c.1019A>G (p.Lys340Arg) rs577692224 0.00008
NM_001127649.3(PEX26):c.635G>T (p.Gly212Val) rs769550692 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001128178.3(NPHP1):c.1530-4A>G rs370945279 0.00008
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met) rs771062534 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) rs763456750 0.00008
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) rs143632564 0.00008
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) rs151054827 0.00008
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu) rs147876220 0.00008
NM_001139.3(ALOX12B):c.48G>A (p.Ser16=) rs149687727 0.00008
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) rs147817526 0.00008
NM_001143992.2(WRAP53):c.956-6del rs773916846 0.00008
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_001145809.2(MYH14):c.*155T>C rs918532693 0.00008
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339 0.00008
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) rs764548516 0.00008
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001184.4(ATR):c.1359T>G (p.His453Gln) rs202239914 0.00008
NM_001184.4(ATR):c.6G>T (p.Gly2=) rs143306360 0.00008
NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) rs370000548 0.00008
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser) rs554966703 0.00008
NM_001254.4(CDC6):c.*511G>A rs886052905 0.00008
NM_001256317.3(TMPRSS3):c.1344+8C>T rs368075894 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr) rs575070622 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) rs145211131 0.00008
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val) rs567457007 0.00008
NM_001267550.2(TTN):c.1743G>A (p.Pro581=) rs138560523 0.00008
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser) rs371518764 0.00008
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) rs759713604 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val) rs750612476 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.3522A>C (p.Glu1174Asp) rs545280886 0.00008
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) rs181902304 0.00008
NM_001267550.2(TTN):c.47836T>C (p.Ser15946Pro) rs369663023 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403 0.00008
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe) rs746817480 0.00008
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.57112-4C>T rs117072049 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile) rs757911359 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00008
NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr) rs370931683 0.00008
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00008
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=) rs72648203 0.00008
NM_001267550.2(TTN):c.79519G>A (p.Ala26507Thr) rs554718474 0.00008
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) rs192360370 0.00008
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) rs773226749 0.00008
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe) rs755325663 0.00008
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser) rs758537709 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg) rs138576158 0.00008
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) rs181400417 0.00008
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) rs376113173 0.00008
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) rs369067010 0.00008
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) rs200405048 0.00008
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys) rs747679909 0.00008
NM_001351132.2(PEX5):c.642+6C>T rs376779359 0.00008
NM_001351132.2(PEX5):c.655G>A (p.Val219Met) rs144508802 0.00008
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln) rs148417349 0.00008
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) rs549874193 0.00008
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=) rs886052390 0.00008
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412 0.00008
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239 0.00008
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=) rs767588443 0.00008
NM_001378454.1(ALMS1):c.8357C>G (p.Thr2786Ser) rs565373304 0.00008
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln) rs375243763 0.00008
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) rs781612689 0.00008
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) rs528723972 0.00008
NM_001379286.1(ZNF423):c.2386G>A (p.Glu796Lys) rs765993465 0.00008
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) rs770075138 0.00008
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) rs367949127 0.00008
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile) rs187727835 0.00008
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met) rs143090687 0.00008
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_001384474.1(LOXHD1):c.1008C>T (p.Gly336=) rs1444868169 0.00008
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr) rs146513720 0.00008
NM_001393500.2(TOMT):c.685C>T (p.Arg229Cys) rs886048634 0.00008
NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val) rs782446537 0.00008
NM_002161.6(IARS1):c.296C>A (p.Thr99Lys) rs780360619 0.00008
NM_002180.3(IGHMBP2):c.*666G>A rs576058010 0.00008
NM_002180.3(IGHMBP2):c.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) rs146409569 0.00008
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr) rs139871647 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002241.5(KCNJ10):c.*2554G>A rs773976668 0.00008
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154 0.00008
NM_002292.4(LAMB2):c.2489-7C>T rs374958213 0.00008
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) rs369747444 0.00008
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) rs142001526 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_002473.6(MYH9):c.4345-11C>G rs376040199 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002635.4(SLC25A3):c.*254A>G rs777877584 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002855.5(NECTIN1):c.*3365G>A rs574961662 0.00008
NM_002855.5(NECTIN1):c.1182C>T (p.His394=) rs761931104 0.00008
NM_002857.4(PEX19):c.*1145C>T rs75916849 0.00008
NM_002857.4(PEX19):c.*1163T>C rs575199724 0.00008
NM_002906.4(RDX):c.1530C>T (p.Ser510=) rs192239366 0.00008
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00008
NM_003193.5(TBCE):c.1263C>G (p.Leu421=) rs199943206 0.00008
NM_003332.4(TYROBP):c.-50G>A rs371441146 0.00008
NM_003383.5(VLDLR):c.639C>T (p.Asp213=) rs779155452 0.00008
NM_003701.4(TNFSF11):c.*158C>T rs200754328 0.00008
NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys) rs570762078 0.00008
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 0.00008
NM_003896.4(ST3GAL5):c.1129A>G (p.Ser377Gly) rs748173859 0.00008
NM_004086.3(COCH):c.961-8C>T rs753785426 0.00008
NM_004100.5(EYA4):c.*3121A>G rs755881972 0.00008
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val) rs141749112 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658 0.00008
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu) rs770985285 0.00008
NM_004393.6(DAG1):c.815C>T (p.Pro272Leu) rs371509534 0.00008
NM_004407.4(DMP1):c.674G>A (p.Ser225Asn) rs373051924 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) rs199583537 0.00008
NM_004525.3(LRP2):c.13190C>T (p.Pro4397Leu) rs759734710 0.00008
NM_004525.3(LRP2):c.4496A>G (p.Asp1499Gly) rs748769984 0.00008
NM_004560.4(ROR2):c.1416G>A (p.Ala472=) rs201064212 0.00008
NM_004560.4(ROR2):c.1490C>T (p.Pro497Leu) rs772631240 0.00008
NM_004565.3(PEX14):c.84G>A (p.Leu28=) rs551147900 0.00008
NM_004999.4(MYO6):c.*311T>C rs886061765 0.00008
NM_005199.5(CHRNG):c.*131C>T rs566877095 0.00008
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788 0.00008
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228 0.00008
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) rs373896015 0.00008
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) rs369527502 0.00008
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu) rs768743097 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_005529.7(HSPG2):c.1411G>C (p.Glu471Gln) rs201765006 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.7138A>C (p.Ser2380Arg) rs767635632 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) rs372751122 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006019.4(TCIRG1):c.1305+7G>C rs368136779 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu) rs141512965 0.00008
NM_006208.3(ENPP1):c.*1858C>G rs559926548 0.00008
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro) rs147602717 0.00008
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile) rs745634199 0.00008
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala) rs749010399 0.00008
NM_006846.4(SPINK5):c.1431-10T>G rs759079847 0.00008
NM_006846.4(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778 0.00008
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val) rs201433344 0.00008
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn) rs201879958 0.00008
NM_006892.4(DNMT3B):c.*930G>A rs764293630 0.00008
NM_006892.4(DNMT3B):c.-212C>T rs749909518 0.00008
NM_006892.4(DNMT3B):c.142+4G>T rs748967232 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) rs782595882 0.00008
NM_007259.5(VPS45):c.462G>A (p.Gln154=) rs781792682 0.00008
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) rs148174305 0.00008
NM_012188.5(FOXI1):c.861C>G (p.Ala287=) rs145785746 0.00008
NM_012210.4(TRIM32):c.*1246T>C rs573622329 0.00008
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr) rs141806013 0.00008
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys) rs541272906 0.00008
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala) rs767842373 0.00008
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012463.4(ATP6V0A2):c.*2454T>C rs776825961 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) rs183558313 0.00008
NM_014028.4(OSTM1):c.*953C>T rs886060968 0.00008
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423 0.00008
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158 0.00008
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) rs142926244 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys) rs201904771 0.00008
NM_014780.5(CUL7):c.-206A>G rs1281399761 0.00008
NM_014780.5(CUL7):c.426C>T (p.His142=) rs138730481 0.00008
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly) rs151204404 0.00008
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg) rs138536460 0.00008
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln) rs184333345 0.00008
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe) rs375118998 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val) rs745698836 0.00008
NM_015102.5(NPHP4):c.2543G>A (p.Arg848Gln) rs398124288 0.00008
NM_015102.5(NPHP4):c.2723C>T (p.Ser908Leu) rs543726103 0.00008
NM_015102.5(NPHP4):c.2833C>T (p.Arg945Cys) rs767344564 0.00008
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015294.6(TRIM37):c.*836A>G rs142111745 0.00008
NM_015602.4(TOR1AIP1):c.1381G>T (p.Val461Leu) rs368563369 0.00008
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly) rs201023108 0.00008
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys) rs377110579 0.00008
NM_015602.4(TOR1AIP1):c.808A>G (p.Thr270Ala) rs780046037 0.00008
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015665.6(AAAS):c.308T>C (p.Val103Ala) rs201692749 0.00008
NM_015910.7(WDPCP):c.-176G>C rs151273399 0.00008
NM_015910.7(WDPCP):c.1888G>A (p.Asp630Asn) rs760742250 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 0.00008
NM_016042.4(EXOSC3):c.*611A>G rs939514834 0.00008
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala) rs200860565 0.00008
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg) rs370497397 0.00008
NM_016239.4(MYO15A):c.3988C>T (p.Arg1330Cys) rs374131038 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=) rs368865502 0.00008
NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met) rs368883957 0.00008
NM_016239.4(MYO15A):c.6795C>T (p.Thr2265=) rs78015149 0.00008
NM_016373.4(WWOX):c.635C>T (p.Ala212Val) rs202006159 0.00008
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp) rs564438778 0.00008
NM_017755.6(NSUN2):c.*202C>T rs932103254 0.00008
NM_017755.6(NSUN2):c.*622T>A rs757183970 0.00008
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val) rs767859450 0.00008
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) rs145645602 0.00008
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe) rs371321801 0.00008
NM_018249.6(CDK5RAP2):c.2633C>T (p.Thr878Met) rs112982005 0.00008
NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp) rs369568564 0.00008
NM_018319.4(TDP1):c.-8+15T>C rs767166629 0.00008
NM_018389.5(SLC35C1):c.607G>A (p.Val203Met) rs368377475 0.00008
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) rs201219786 0.00008
NM_018718.3(CEP41):c.*3965A>G rs781992723 0.00008
NM_020247.5(COQ8A):c.*570T>C rs778729725 0.00008
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 0.00008
NM_020632.3(ATP6V0A4):c.-15C>T rs761118342 0.00008
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_020632.3(ATP6V0A4):c.418-13C>G rs752531162 0.00008
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg) rs756742630 0.00008
NM_020779.4(WDR35):c.*563T>G rs561642193 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_020964.3(EPG5):c.1119G>T (p.Glu373Asp) rs371484691 0.00008
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg) rs199571302 0.00008
NM_020964.3(EPG5):c.4517C>T (p.Pro1506Leu) rs751816092 0.00008
NM_021628.3(ALOXE3):c.*344C>T rs556261209 0.00008
NM_021628.3(ALOXE3):c.*466G>A rs533827834 0.00008
NM_021628.3(ALOXE3):c.1101+9G>A rs758641318 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn) rs753388968 0.00008
NM_021971.4(GMPPB):c.304G>C (p.Asp102His) rs368542417 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val) rs755307953 0.00008
NM_022098.4(XPNPEP3):c.*4198G>A rs888693742 0.00008
NM_022098.4(XPNPEP3):c.*637C>T rs886057512 0.00008
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys) rs369740230 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_022124.6(CDH23):c.7657G>A (p.Val2553Met) rs370325211 0.00008
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_022336.4(EDAR):c.*2189G>T rs547979348 0.00008
NM_022336.4(EDAR):c.1038G>A (p.Thr346=) rs141067689 0.00008
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) rs143523027 0.00008
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) rs144833282 0.00008
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg) rs755933899 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_031885.3(BBS2):c.-208G>A rs977994154 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.1786G>A (p.Val596Met) rs375828912 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_032119.4(ADGRV1):c.*193G>A rs369242510 0.00008
NM_032119.4(ADGRV1):c.1071G>A (p.Ser357=) rs756805245 0.00008
NM_032119.4(ADGRV1):c.13550T>C (p.Ile4517Thr) rs748263327 0.00008
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala) rs757135353 0.00008
NM_032119.4(ADGRV1):c.5657C>G (p.Thr1886Arg) rs199959482 0.00008
NM_032119.4(ADGRV1):c.9448-14G>A rs370196445 0.00008
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val) rs145783593 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253 0.00008
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu) rs772748227 0.00008
NM_033064.5(ATCAY):c.*838G>A rs1306758402 0.00008
NM_052989.3(IFT122):c.-3G>A rs367704478 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) rs139102393 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.1487G>A (p.Arg496Gln) rs181391485 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His) rs373643848 0.00008
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845 0.00008
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) rs374356596 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_145702.4(TIGD1):c.*2190C>G rs144523413 0.00008
NM_145861.4(EDARADD):c.*863C>T rs570062425 0.00008
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_152384.3(BBS5):c.816+12A>G rs764194396 0.00008
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153240.5(NPHP3):c.3592C>T (p.Pro1198Ser) rs550670844 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_153240.5(NPHP3):c.818A>G (p.Asn273Ser) rs538520481 0.00008
NM_153676.4(USH1C):c.105-4A>G rs201374986 0.00008
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_153747.2(PIGC):c.812G>A (p.Arg271His) rs370905635 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_170784.3(MKKS):c.1246C>A (p.His416Asn) rs148800011 0.00008
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe) rs374485160 0.00008
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr) rs201243884 0.00008
NM_173477.5(USH1G):c.*202G>A rs557845589 0.00008
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) rs201104087 0.00008
NM_173551.5(ANKS6):c.968A>G (p.Asn323Ser) rs368427707 0.00008
NM_176824.3(BBS7):c.*1139T>C rs542533305 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys) rs375825705 0.00008
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val) rs151250199 0.00008
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166 0.00008
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp) rs749005373 0.00008
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp) rs140567583 0.00008
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His) rs746141355 0.00008
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln) rs774319570 0.00008
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His) rs191723029 0.00008
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=) rs776288515 0.00008
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln) rs538407539 0.00008
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00008
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys) rs187117263 0.00008
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln) rs374482089 0.00008
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn) rs151039167 0.00008
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr) rs141821444 0.00008
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro) rs56308121 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114 0.00008
NM_201384.3(PLEC):c.1000G>A (p.Ala334Thr) rs375047877 0.00008
NM_201384.3(PLEC):c.10196T>C (p.Val3399Ala) rs200572137 0.00008
NM_201384.3(PLEC):c.10834C>T (p.Arg3612Trp) rs199983097 0.00008
NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln) rs781960031 0.00008
NM_201384.3(PLEC):c.11881G>A (p.Gly3961Ser) rs373243633 0.00008
NM_201384.3(PLEC):c.12320G>A (p.Arg4107His) rs200585446 0.00008
NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro) rs782636181 0.00008
NM_201384.3(PLEC):c.2540G>A (p.Ser847Asn) rs782716612 0.00008
NM_201384.3(PLEC):c.3044C>T (p.Pro1015Leu) rs372286371 0.00008
NM_201384.3(PLEC):c.4024C>T (p.Arg1342Trp) rs369706837 0.00008
NM_201384.3(PLEC):c.4397G>A (p.Arg1466His) rs367724538 0.00008
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=) rs782222671 0.00008
NM_201384.3(PLEC):c.4978G>A (p.Ala1660Thr) rs781997708 0.00008
NM_201384.3(PLEC):c.5036C>T (p.Ala1679Val) rs782217591 0.00008
NM_201384.3(PLEC):c.5260G>A (p.Glu1754Lys) rs567416889 0.00008
NM_201384.3(PLEC):c.5389C>T (p.Arg1797Cys) rs782175669 0.00008
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His) rs367679924 0.00008
NM_201384.3(PLEC):c.6020C>T (p.Ala2007Val) rs199754839 0.00008
NM_201384.3(PLEC):c.6239G>A (p.Arg2080His) rs782288289 0.00008
NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn) rs374776968 0.00008
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr) rs200680102 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_201384.3(PLEC):c.9814C>T (p.Arg3272Cys) rs375101631 0.00008
NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) rs773460228 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=) rs141941454 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser) rs796610671 0.00008
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser) rs200761611 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val) rs868179223 0.00008
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys) rs371201450 0.00008
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) rs371685066 0.00008
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln) rs748137104 0.00008
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp) rs750218932 0.00008
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_207361.6(FREM2):c.5789C>T (p.Pro1930Leu) rs114524483 0.00008
NM_207361.6(FREM2):c.8061G>A (p.Gly2687=) rs147947821 0.00008
NM_213599.3(ANO5):c.1430T>C (p.Met477Thr) rs149017832 0.00008
NR_003051.3(RMRP):n.-22T>C rs947939533 0.00008
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545 0.00007
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000023.4(SGCA):c.312+6G>A rs371433770 0.00007
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln) rs117672945 0.00007
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys) rs746698767 0.00007
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr) rs371965329 0.00007
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499 0.00007
NM_000067.3(CA2):c.709G>A (p.Glu237Lys) rs143666045 0.00007
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066 0.00007
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser) rs200485658 0.00007
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val) rs771263688 0.00007
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln) rs921905047 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His) rs893516153 0.00007
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) rs79261248 0.00007
NM_000124.4(ERCC6):c.*922C>T rs562204481 0.00007
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473 0.00007
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met) rs149382642 0.00007
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_000163.5(GHR):c.*390A>G rs1005604480 0.00007
NM_000163.5(GHR):c.1601A>G (p.Tyr534Cys) rs559502730 0.00007
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu) rs1014118881 0.00007
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met) rs370742162 0.00007
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000208.4(INSR):c.*2568G>A rs973027799 0.00007
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000211.5(ITGB2):c.1754C>T (p.Pro585Leu) rs370702628 0.00007
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684 0.00007
NM_000211.5(ITGB2):c.483C>T (p.Thr161=) rs750060536 0.00007
NM_000231.3(SGCG):c.792C>G (p.Ile264Met) rs377620885 0.00007
NM_000243.3(MEFV):c.*721T>A rs1184351783 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser) rs104895185 0.00007
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000254.3(MTR):c.2474-3T>A rs771491872 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000260.4(MYO7A):c.1916A>G (p.Asn639Ser) rs376811825 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) rs782787324 0.00007
NM_000260.4(MYO7A):c.2761C>T (p.Arg921Trp) rs530696050 0.00007
NM_000260.4(MYO7A):c.3215C>T (p.Thr1072Ile) rs543040893 0.00007
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=) rs782788403 0.00007
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833 0.00007
NM_000260.4(MYO7A):c.78G>A (p.Ala26=) rs373517098 0.00007
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000277.3(PAH):c.*144A>G rs375319584 0.00007
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559 0.00007
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val) rs149161535 0.00007
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_000320.3(QDPR):c.274G>A (p.Gly92Arg) rs757963200 0.00007
NM_000320.3(QDPR):c.563C>T (p.Pro188Leu) rs374458448 0.00007
NM_000329.3(RPE65):c.676G>A (p.Val226Ile) rs750099371 0.00007
NM_000329.3(RPE65):c.95-10T>A rs547374432 0.00007
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000352.3(ABCC8):c.-113G>A rs886048056 0.00007
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) rs555810288 0.00007
NM_000360.4(TH):c.167C>T (p.Ala56Val) rs745974715 0.00007
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00007
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) rs578253592 0.00007
NM_000414.4(HSD17B4):c.112+11G>A rs775970480 0.00007
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) rs970365005 0.00007
NM_000466.3(PEX1):c.*428A>G rs769772779 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe) rs185115432 0.00007
NM_000492.3(CFTR):c.-152G>C rs551681003 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_000553.6(WRN):c.*588A>G rs777411815 0.00007
NM_000553.6(WRN):c.1302G>A (p.Thr434=) rs374140086 0.00007
NM_000553.6(WRN):c.2422C>T (p.His808Tyr) rs369776725 0.00007
NM_000553.6(WRN):c.3058C>T (p.Arg1020Cys) rs190364546 0.00007
NM_000553.6(WRN):c.3581C>T (p.Thr1194Met) rs376068344 0.00007
NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) rs763953521 0.00007
NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn) rs147017250 0.00007
NM_000782.5(CYP24A1):c.*525C>T rs922871712 0.00007
NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe) rs201820243 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) rs368735609 0.00007
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_001040167.2(LFNG):c.37C>G (p.Leu13Val) rs1425455790 0.00007
NM_001040167.2(LFNG):c.479C>T (p.Thr160Met) rs769574441 0.00007
NM_001042472.3(ABHD12):c.543-13T>C rs575339393 0.00007
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) rs3766317 0.00007
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp) rs373766973 0.00007
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668 0.00007
NM_001077365.2(POMT1):c.986+5G>A rs370096853 0.00007
NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln) rs755462817 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_001122769.3(LCA5):c.858+5G>C rs200302979 0.00007
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001127671.2(LIFR):c.*2611C>T rs905926604 0.00007
NM_001127671.2(LIFR):c.*4346G>A rs184642499 0.00007
NM_001127671.2(LIFR):c.*4841G>A rs1307069696 0.00007
NM_001127671.2(LIFR):c.1338A>G (p.Ser446=) rs770514781 0.00007
NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile) rs760903325 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) rs371816429 0.00007
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala) rs753176482 0.00007
NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter) rs143088549 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001139.3(ALOX12B):c.-199G>A rs886053576 0.00007
NM_001145809.2(MYH14):c.3883C>T (p.Arg1295Trp) rs372367091 0.00007
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 0.00007
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001184.4(ATR):c.7864T>C (p.Tyr2622His) rs374127772 0.00007
NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser) rs946591185 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile) rs200184645 0.00007
NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln) rs564447434 0.00007
NM_001256317.3(TMPRSS3):c.573-8C>T rs776871966 0.00007
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) rs397517379 0.00007
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys) rs376443365 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly) rs745641339 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.21789G>C (p.Trp7263Cys) rs377544260 0.00007
NM_001267550.2(TTN):c.25717A>C (p.Ile8573Leu) rs142609645 0.00007
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.2743C>T (p.Arg915Cys) rs539652641 0.00007
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524 0.00007
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg) rs374930292 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.32569A>G (p.Lys10857Glu) rs372878566 0.00007
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.3368C>G (p.Thr1123Ser) rs773799748 0.00007
NM_001267550.2(TTN):c.40141+6C>T rs750448649 0.00007
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile) rs780572853 0.00007
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) rs376278449 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54194G>A (p.Arg18065His) rs375895183 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) rs397517651 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) rs182161195 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906 0.00007
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln) rs370367786 0.00007
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys) rs762557803 0.00007
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile) rs756561910 0.00007
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg) rs753036867 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met) rs756469423 0.00007
NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp) rs201850303 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro) rs537151019 0.00007
NM_001283009.2(RTEL1):c.1722+3G>A rs200599544 0.00007
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_001283009.2(RTEL1):c.958+3A>G rs200787633 0.00007
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00007
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) rs766453312 0.00007
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) rs370778483 0.00007
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp) rs145762725 0.00007
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu) rs751226125 0.00007
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val) rs745341735 0.00007
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=) rs373300146 0.00007
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=) rs551298094 0.00007
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1339-3A>C rs572922738 0.00007
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00007
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg) rs1251705223 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001379180.1(ESRRB):c.*1556T>C rs180967093 0.00007
NM_001379180.1(ESRRB):c.689-10G>A rs534216019 0.00007
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) rs767318500 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) rs1024300760 0.00007
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) rs185130908 0.00007
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) rs181079660 0.00007
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) rs775754786 0.00007
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) rs775759544 0.00007
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp) rs573831072 0.00007
NM_001384474.1(LOXHD1):c.2327G>A (p.Arg776His) rs373559161 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) rs200114105 0.00007
NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=) rs371041253 0.00007
NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn) rs531614845 0.00007
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg) rs769535360 0.00007
NM_002160.4(TNC):c.2239C>T (p.Arg747Trp) rs776411890 0.00007
NM_002160.4(TNC):c.2960C>T (p.Thr987Met) rs778506429 0.00007
NM_002161.6(IARS1):c.2081G>A (p.Arg694Gln) rs142411431 0.00007
NM_002180.3(IGHMBP2):c.*754G>A rs374679092 0.00007
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002241.5(KCNJ10):c.*2520C>T rs886045401 0.00007
NM_002241.5(KCNJ10):c.*52G>A rs148441646 0.00007
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257 0.00007
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val) rs148956392 0.00007
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) rs201289156 0.00007
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His) rs766772811 0.00007
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp) rs200316162 0.00007
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746 0.00007
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln) rs770223547 0.00007
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002335.4(LRP5):c.4619C>T (p.Thr1540Met) rs141407040 0.00007
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His) rs767507060 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_002473.6(MYH9):c.*195T>C rs771229879 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_002485.5(NBN):c.*1287A>G rs989124878 0.00007
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_002617.4(PEX10):c.*732G>A rs886046140 0.00007
NM_002617.4(PEX10):c.527G>A (p.Arg176Gln) rs184150138 0.00007
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser) rs543856265 0.00007
NM_002857.4(PEX19):c.*1745T>C rs186821837 0.00007
NM_002857.4(PEX19):c.*1852C>G rs370387085 0.00007
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_002906.3(RDX):c.-285A>G rs969963231 0.00007
NM_002906.4(RDX):c.-179C>T rs886047653 0.00007
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter) rs750210485 0.00007
NM_003383.5(VLDLR):c.-207G>A rs1429851395 0.00007
NM_003619.4(PRSS12):c.*1660T>C rs372099887 0.00007
NM_003619.4(PRSS12):c.936C>T (p.Ala312=) rs12505679 0.00007
NM_003630.3(PEX3):c.*424T>C rs189379544 0.00007
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_003673.4(TCAP):c.*128G>A rs1019098438 0.00007
NM_003805.5(CRADD):c.497G>A (p.Arg166His) rs746685035 0.00007
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964 0.00007
NM_004100.5(EYA4):c.*1363G>A rs539858245 0.00007
NM_004100.5(EYA4):c.*15C>T rs773904240 0.00007
NM_004100.5(EYA4):c.*222G>A rs998303327 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466 0.00007
NM_004407.4(DMP1):c.*77T>C rs963086141 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004447.6(EPS8):c.871G>T (p.Ala291Ser) rs202097537 0.00007
NM_004525.3(LRP2):c.*378C>T rs886055076 0.00007
NM_004525.3(LRP2):c.1425C>T (p.Asp475=) rs186484839 0.00007
NM_004525.3(LRP2):c.3190A>G (p.Asn1064Asp) rs916737558 0.00007
NM_004525.3(LRP2):c.3285C>T (p.Gly1095=) rs986671553 0.00007
NM_004525.3(LRP2):c.438A>G (p.Thr146=) rs372097309 0.00007
NM_004525.3(LRP2):c.6233T>G (p.Leu2078Trp) rs760347752 0.00007
NM_004525.3(LRP2):c.6770T>C (p.Ile2257Thr) rs202118469 0.00007
NM_004560.4(ROR2):c.1240A>G (p.Ile414Val) rs145023692 0.00007
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg) rs765798757 0.00007
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln) rs151096656 0.00007
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr) rs200053059 0.00007
NM_004813.4(PEX16):c.360-7G>A rs202161790 0.00007
NM_004937.3(CTNS):c.*2377G>A rs543014932 0.00007
NM_004937.3(CTNS):c.-20+13T>C rs780032861 0.00007
NM_004999.4(MYO6):c.*1335G>A rs942079896 0.00007
NM_005199.5(CHRNG):c.*126C>T rs369614677 0.00007
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) rs186589083 0.00007
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val) rs752510907 0.00007
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) rs55736359 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln) rs180919656 0.00007
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) rs374978891 0.00007
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00007
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_005529.7(HSPG2):c.10589G>A (p.Arg3530Gln) rs200062985 0.00007
NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=) rs369731617 0.00007
NM_005529.7(HSPG2):c.6660G>C (p.Val2220=) rs368431013 0.00007
NM_005708.5(GPC6):c.*22A>G rs751143307 0.00007
NM_005708.5(GPC6):c.*254C>T rs964546497 0.00007
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile) rs371078966 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln) rs139263189 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys) rs771395837 0.00007
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met) rs367818260 0.00007
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_006185.4(NUMA1):c.-147T>C rs886048621 0.00007
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_006208.3(ENPP1):c.1540T>C (p.Leu514=) rs536023117 0.00007
NM_006208.3(ENPP1):c.313+11G>T rs781539069 0.00007
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) rs778120777 0.00007
NM_006397.3(RNASEH2A):c.455G>A (p.Arg152Gln) rs757486362 0.00007
NM_006432.5(NPC2):c.-1G>C rs756433737 0.00007
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) rs369392502 0.00007
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val) rs74701277 0.00007
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu) rs980791573 0.00007
NM_006846.4(SPINK5):c.1084T>A (p.Ser362Thr) rs375573803 0.00007
NM_006846.4(SPINK5):c.1607+7G>T rs541432320 0.00007
NM_006846.4(SPINK5):c.1712G>A (p.Arg571His) rs780631964 0.00007
NM_006846.4(SPINK5):c.1999A>G (p.Met667Val) rs370317811 0.00007
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=) rs759451448 0.00007
NM_006846.4(SPINK5):c.2369G>A (p.Arg790Gln) rs184189005 0.00007
NM_006892.4(DNMT3B):c.-163A>C rs545638472 0.00007
NM_006892.4(DNMT3B):c.67G>A (p.Val23Ile) rs367766007 0.00007
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=) rs200921151 0.00007
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu) rs201002467 0.00007
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln) rs370166172 0.00007
NM_007259.5(VPS45):c.571G>A (p.Val191Ile) rs200783288 0.00007
NM_012233.3(RAB3GAP1):c.*201T>G rs78044288 0.00007
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) rs146072589 0.00007
NM_012414.4(RAB3GAP2):c.*2695T>C rs1004870855 0.00007
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_014321.4(ORC6):c.196-1G>A rs748927298 0.00007
NM_014321.4(ORC6):c.556G>T (p.Val186Phe) rs368692007 0.00007
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His) rs140470210 0.00007
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp) rs369446103 0.00007
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr) rs143693029 0.00007
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015102.5(NPHP4):c.2039C>T (p.Thr680Met) rs370238544 0.00007
NM_015102.5(NPHP4):c.2206C>T (p.Arg736Cys) rs372959036 0.00007
NM_015102.5(NPHP4):c.2734C>T (p.Arg912Cys) rs368106760 0.00007
NM_015102.5(NPHP4):c.2866G>A (p.Ala956Thr) rs369624442 0.00007
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=) rs756370084 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_015102.5(NPHP4):c.4019C>T (p.Ala1340Val) rs201560526 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_015294.6(TRIM37):c.*484G>A rs182208565 0.00007
NM_015311.3(OBSL1):c.1158C>T (p.Tyr386=) rs369829562 0.00007
NM_015404.4(WHRN):c.-505C>T rs987306942 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) rs374642075 0.00007
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His) rs745350340 0.00007
NM_015602.4(TOR1AIP1):c.281C>G (p.Ser94Cys) rs780616161 0.00007
NM_015602.4(TOR1AIP1):c.512C>T (p.Thr171Met) rs150816990 0.00007
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr) rs202216329 0.00007
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218 0.00007
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935 0.00007
NM_015910.7(WDPCP):c.842G>A (p.Arg281His) rs3738877 0.00007
NM_016122.3(CEP83):c.604G>C (p.Asp202His) rs200161629 0.00007
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_016239.4(MYO15A):c.6689A>G (p.Asn2230Ser) rs375163839 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala) rs372660669 0.00007
NM_016373.4(WWOX):c.981G>A (p.Met327Ile) rs758307666 0.00007
NM_017433.5(MYO3A):c.-146G>A rs929411495 0.00007
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn) rs775641463 0.00007
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr) rs202025962 0.00007
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_018136.5(ASPM):c.135C>T (p.Cys45=) rs200874183 0.00007
NM_018136.5(ASPM):c.2419+6A>T rs202002135 0.00007
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln) rs200848981 0.00007
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu) rs753961004 0.00007
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) rs542967760 0.00007
NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr) rs139143441 0.00007
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp) rs185208659 0.00007
NM_018249.6(CDK5RAP2):c.575G>A (p.Arg192Gln) rs200650108 0.00007
NM_018249.6(CDK5RAP2):c.978A>G (p.Ala326=) rs374830118 0.00007
NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu) rs771361211 0.00007
NM_018451.5(CENPJ):c.*721G>A rs755143149 0.00007
NM_018451.5(CENPJ):c.2342C>T (p.Ser781Leu) rs201828176 0.00007
NM_018718.3(CEP41):c.*1284A>G rs376297063 0.00007
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly) rs781835148 0.00007
NM_018965.4(TREM2):c.*156G>T rs768583708 0.00007
NM_020458.4(TTC7A):c.2126C>T (p.Thr709Met) rs376309617 0.00007
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys) rs552364487 0.00007
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744 0.00007
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653 0.00007
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00007
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275 0.00007
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140 0.00007
NM_020632.3(ATP6V0A4):c.1002T>C (p.Arg334=) rs774810624 0.00007
NM_020779.4(WDR35):c.*1146T>C rs1036362475 0.00007
NM_020779.4(WDR35):c.*1207C>G rs1466981368 0.00007
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys) rs1420842472 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_020964.3(EPG5):c.4747C>T (p.His1583Tyr) rs535029628 0.00007
NM_021252.5(RAB18):c.*3927A>G rs886046981 0.00007
NM_021628.3(ALOXE3):c.*262C>T rs180740798 0.00007
NM_021628.3(ALOXE3):c.1486C>T (p.Arg496Trp) rs867780319 0.00007
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser) rs141588557 0.00007
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) rs376011760 0.00007
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu) rs56170027 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met) rs528943677 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_022098.4(XPNPEP3):c.*1798C>T rs886057524 0.00007
NM_022098.4(XPNPEP3):c.*2860G>A rs886057533 0.00007
NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His) rs766361465 0.00007
NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg) rs753043524 0.00007
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys) rs772284876 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His) rs727502927 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.612G>A (p.Thr204=) rs200200488 0.00007
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107 0.00007
NM_022124.6(CDH23):c.6830-7A>C rs200587627 0.00007
NM_022124.6(CDH23):c.8421C>T (p.Ser2807=) rs755841293 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr) rs763103642 0.00007
NM_024596.5(MCPH1):c.2214C>T (p.Pro738=) rs35344839 0.00007
NM_024596.5(MCPH1):c.729A>T (p.Gly243=) rs370543894 0.00007
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299 0.00007
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser) rs199809707 0.00007
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser) rs753237558 0.00007
NM_025074.7(FRAS1):c.*2091T>C rs764203320 0.00007
NM_025074.7(FRAS1):c.*2957T>A rs553394027 0.00007
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys) rs750736066 0.00007
NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys) rs376133490 0.00007
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val) rs202221840 0.00007
NM_025074.7(FRAS1):c.2939A>G (p.Tyr980Cys) rs570962669 0.00007
NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His) rs377717035 0.00007
NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=) rs370597256 0.00007
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) rs375885501 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) rs184091587 0.00007
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) rs542357552 0.00007
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712 0.00007
NM_032119.4(ADGRV1):c.17033G>C (p.Gly5678Ala) rs754164679 0.00007
NM_032119.4(ADGRV1):c.18153-13A>T rs750471995 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032119.4(ADGRV1):c.3993C>T (p.Thr1331=) rs566196345 0.00007
NM_032119.4(ADGRV1):c.6951+13G>A rs143356203 0.00007
NM_032193.3(RNASEH2C):c.-186A>C rs931060333 0.00007
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960 0.00007
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_033028.5(BBS4):c.405+7A>G rs778651927 0.00007
NM_033064.5(ATCAY):c.*1409T>C rs886054421 0.00007
NM_033064.5(ATCAY):c.*3136A>T rs569189077 0.00007
NM_033629.6(TREX1):c.651G>A (p.Arg217=) rs140199177 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_133378.4(TTN):c.28030+5G>A rs145387989 0.00007
NM_138501.6(TECR):c.262G>T (p.Val88Leu) rs753690636 0.00007
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_138694.4(PKHD1):c.*822G>A rs974589280 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) rs146680689 0.00007
NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val) rs142608481 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.3629-15G>A rs375870003 0.00007
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195 0.00007
NM_138694.4(PKHD1):c.8440+10G>C rs376658460 0.00007
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_144508.5(KNL1):c.4954A>G (p.Ile1652Val) rs193134958 0.00007
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_144672.4(OTOA):c.268-677G>A rs931046043 0.00007
NM_145702.4(TIGD1):c.*2003C>G rs914603576 0.00007
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_147196.3(TMIE):c.174C>T (p.His58=) rs373379198 0.00007
NM_148919.4(PSMB8):c.386G>A (p.Arg129His) rs369078226 0.00007
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln) rs764672057 0.00007
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) rs200995701 0.00007
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_153240.5(NPHP3):c.*231A>T rs753577987 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer) rs781176348 0.00007
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val) rs763628668 0.00007
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys) rs772123405 0.00007
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln) rs148597739 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153717.3(EVC):c.*662G>A rs866110948 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser) rs961602813 0.00007
NM_174878.3(CLRN1):c.*1039A>T rs200446881 0.00007
NM_174878.3(CLRN1):c.*1181T>C rs775798558 0.00007
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala) rs764632225 0.00007
NM_178170.3(NEK8):c.*574A>C rs974940888 0.00007
NM_182548.4(LHFPL5):c.*487C>T rs945975159 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met) rs148158986 0.00007
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) rs781427258 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val) rs772814249 0.00007
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821 0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250 0.00007
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265 0.00007
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu) rs919427159 0.00007
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile) rs373619878 0.00007
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=) rs777088497 0.00007
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198428.3(BBS9):c.921T>G (p.Asn307Lys) rs769663141 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) rs1006177908 0.00007
NM_201253.3(CRB1):c.825G>A (p.Gly275=) rs149685264 0.00007
NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg) rs202037264 0.00007
NM_201384.3(PLEC):c.11393G>A (p.Arg3798Gln) rs781872730 0.00007
NM_201384.3(PLEC):c.1262C>T (p.Ser421Leu) rs200848972 0.00007
NM_201384.3(PLEC):c.12979G>A (p.Gly4327Ser) rs368027812 0.00007
NM_201384.3(PLEC):c.13087C>T (p.Arg4363Cys) rs782348944 0.00007
NM_201384.3(PLEC):c.13243G>A (p.Gly4415Ser) rs201031796 0.00007
NM_201384.3(PLEC):c.1727G>A (p.Arg576Gln) rs199826059 0.00007
NM_201384.3(PLEC):c.2739+5G>A rs782147311 0.00007
NM_201384.3(PLEC):c.3527G>A (p.Arg1176His) rs782533009 0.00007
NM_201384.3(PLEC):c.3601G>A (p.Glu1201Lys) rs782581435 0.00007
NM_201384.3(PLEC):c.3629G>A (p.Arg1210His) rs369682125 0.00007
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys) rs541323979 0.00007
NM_201384.3(PLEC):c.4580C>T (p.Ala1527Val) rs782569624 0.00007
NM_201384.3(PLEC):c.4649G>A (p.Arg1550Gln) rs782555054 0.00007
NM_201384.3(PLEC):c.4838G>A (p.Arg1613Gln) rs782102511 0.00007
NM_201384.3(PLEC):c.4874A>G (p.Glu1625Gly) rs1480796001 0.00007
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val) rs782216341 0.00007
NM_201384.3(PLEC):c.5635C>T (p.Arg1879Trp) rs782743336 0.00007
NM_201384.3(PLEC):c.6535C>T (p.Arg2179Trp) rs372371569 0.00007
NM_201384.3(PLEC):c.7670G>A (p.Arg2557Gln) rs555720538 0.00007
NM_201384.3(PLEC):c.7910C>T (p.Ala2637Val) rs782384162 0.00007
NM_201384.3(PLEC):c.8236C>T (p.Arg2746Trp) rs782075235 0.00007
NM_201384.3(PLEC):c.8492G>A (p.Arg2831Gln) rs377604549 0.00007
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys) rs377748878 0.00007
NM_201384.3(PLEC):c.896C>T (p.Thr299Met) rs369748826 0.00007
NM_201384.3(PLEC):c.9191C>T (p.Thr3064Ile) rs530059869 0.00007
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) rs368318946 0.00007
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn) rs376526613 0.00007
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg) rs768097637 0.00007
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100 0.00007
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln) rs201630132 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn) rs778199517 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_207361.6(FREM2):c.*660A>G rs80169494 0.00007
NM_207361.6(FREM2):c.736G>A (p.Gly246Arg) rs547302858 0.00007
NM_213599.3(ANO5):c.1760G>A (p.Gly587Glu) rs369600326 0.00007
NM_213599.3(ANO5):c.2569G>A (p.Val857Ile) rs1346740717 0.00007
NR_003051.3(RMRP):n.271T>C rs377349293 0.00007
NR_003051.4(RMRP):n.51C>T rs1030486815 0.00007
NM_000019.3(ACAT1):c.*384A>C rs916588276 0.00006
NM_000019.4(ACAT1):c.-5C>T rs747790910 0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu) rs764142914 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp) rs766855169 0.00006
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp) rs200075504 0.00006
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000023.4(SGCA):c.657C>T (p.His219=) rs747684069 0.00006
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) rs887921909 0.00006
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile) rs550417200 0.00006
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr) rs371023654 0.00006
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533 0.00006
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) rs765478171 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893 0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519 0.00006
NM_000057.4(BLM):c.800-3T>G rs377266736 0.00006
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925 0.00006
NM_000070.3(CAPN3):c.*136C>T rs980663241 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=) rs534326487 0.00006
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val) rs144138775 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=) rs144383704 0.00006
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met) rs553169803 0.00006
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000070.3(CAPN3):c.2249C>T (p.Ala750Val) rs371367772 0.00006
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu) rs1476836379 0.00006
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu) rs148538711 0.00006
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln) rs188108732 0.00006
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser) rs371166254 0.00006
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn) rs753780627 0.00006
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile) rs192695896 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561 0.00006
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln) rs371326070 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000123.4(ERCC5):c.*88C>T rs1424795599 0.00006
NM_000123.4(ERCC5):c.-126A>G rs754840043 0.00006
NM_000123.4(ERCC5):c.3412G>A (p.Val1138Met) rs140930348 0.00006
NM_000123.4(ERCC5):c.89-10A>G rs202103819 0.00006
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000163.5(GHR):c.*1847T>G rs886060648 0.00006
NM_000165.5(GJA1):c.508T>G (p.Leu170Val) rs377077470 0.00006
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser) rs773849840 0.00006
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr) rs978982123 0.00006
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu) rs769129492 0.00006
NM_000208.4(INSR):c.*1137A>G rs192753442 0.00006
NM_000208.4(INSR):c.*2023A>G rs754015320 0.00006
NM_000208.4(INSR):c.*2322G>A rs561917859 0.00006
NM_000208.4(INSR):c.*3019C>A rs1037171690 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00006
NM_000208.4(INSR):c.221G>A (p.Arg74Gln) rs766295952 0.00006
NM_000208.4(INSR):c.2280A>G (p.Lys760=) rs373695282 0.00006
NM_000208.4(INSR):c.2682+7C>T rs200618148 0.00006
NM_000208.4(INSR):c.2853G>A (p.Pro951=) rs200564313 0.00006
NM_000208.4(INSR):c.3370-12T>G rs200201955 0.00006
NM_000211.5(ITGB2):c.-10A>C rs371741629 0.00006
NM_000211.5(ITGB2):c.-39G>A rs886057121 0.00006
NM_000211.5(ITGB2):c.1070A>G (p.Lys357Arg) rs530620955 0.00006
NM_000211.5(ITGB2):c.1462C>T (p.Arg488Trp) rs766548458 0.00006
NM_000211.5(ITGB2):c.1567G>A (p.Asp523Asn) rs199976562 0.00006
NM_000211.5(ITGB2):c.1570G>A (p.Val524Ile) rs201654243 0.00006
NM_000211.5(ITGB2):c.181C>T (p.Arg61Cys) rs375038257 0.00006
NM_000211.5(ITGB2):c.2128G>A (p.Ala710Thr) rs776689530 0.00006
NM_000211.5(ITGB2):c.2149A>G (p.Ile717Val) rs753452987 0.00006
NM_000211.5(ITGB2):c.2210G>A (p.Arg737His) rs138714119 0.00006
NM_000211.5(ITGB2):c.275A>G (p.Asn92Ser) rs760545709 0.00006
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986 0.00006
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219 0.00006
NM_000211.5(ITGB2):c.849C>T (p.Asp283=) rs35013643 0.00006
NM_000211.5(ITGB2):c.854G>A (p.Arg285His) rs769752245 0.00006
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 0.00006
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser) rs747046381 0.00006
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn) rs373442790 0.00006
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 0.00006
NM_000243.3(MEFV):c.*280G>C rs562541179 0.00006
NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys) rs896909303 0.00006
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) rs141288548 0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) rs140462252 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.1759+7C>T rs772667365 0.00006
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00006
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu) rs755178462 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) rs769801712 0.00006
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) rs376681897 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_000260.4(MYO7A):c.*208C>G rs886048684 0.00006
NM_000260.4(MYO7A):c.1003+10C>T rs782382971 0.00006
NM_000260.4(MYO7A):c.1049C>T (p.Pro350Leu) rs376108484 0.00006
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) rs370305347 0.00006
NM_000260.4(MYO7A):c.3844G>C (p.Glu1282Gln) rs887299357 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00006
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) rs1367144630 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5681C>T (p.Ala1894Val) rs201314332 0.00006
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) rs780609120 0.00006
NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp) rs369460086 0.00006
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00006
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile) rs367647666 0.00006
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val) rs761164010 0.00006
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) rs761867896 0.00006
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000271.5(NPC1):c.1504G>A (p.Asp502Asn) rs1416446081 0.00006
NM_000271.5(NPC1):c.2246-6C>T rs757950161 0.00006
NM_000271.5(NPC1):c.2551G>A (p.Ala851Thr) rs139297968 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311 0.00006
NM_000271.5(NPC1):c.481C>T (p.Arg161Trp) rs141243713 0.00006
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534 0.00006
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00006
NM_000277.3(PAH):c.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
NM_000286.3(PEX12):c.*519A>G rs886052827 0.00006
NM_000286.3(PEX12):c.*569T>A rs541598688 0.00006
NM_000286.3(PEX12):c.-108A>G rs886052831 0.00006
NM_000286.3(PEX12):c.-358G>T rs565433352 0.00006
NM_000286.3(PEX12):c.745A>G (p.Thr249Ala) rs371597789 0.00006
NM_000286.3(PEX12):c.763G>A (p.Val255Ile) rs746089337 0.00006
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808 0.00006
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_000302.4(PLOD1):c.*128A>G rs927504122 0.00006
NM_000302.4(PLOD1):c.*528G>A rs886045215 0.00006
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val) rs142916043 0.00006
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu) rs375416784 0.00006
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val) rs756600025 0.00006
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser) rs538763801 0.00006
NM_000302.4(PLOD1):c.874G>A (p.Val292Met) rs143114026 0.00006
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp) rs11553674 0.00006
NM_000318.3(PEX2):c.*1370A>G rs886063131 0.00006
NM_000318.3(PEX2):c.*1561G>A rs886063130 0.00006
NM_000318.3(PEX2):c.*489C>T rs886063136 0.00006
NM_000320.3(QDPR):c.199-10T>G rs200393206 0.00006
NM_000320.3(QDPR):c.7G>A (p.Ala3Thr) rs769620717 0.00006
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys) rs144673747 0.00006
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000337.6(SGCD):c.*1990C>T rs558206035 0.00006
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.659C>T (p.Thr220Ile) rs1471128348 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000360.4(TH):c.*54C>T rs1008333072 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.394G>A (p.Val132Met) rs751702426 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.674C>A (p.Thr225Asn) rs141907589 0.00006
NM_000370.3(TTPA):c.*934C>T rs776683493 0.00006
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00006
NM_000370.3(TTPA):c.75G>C (p.Gln25His) rs751638180 0.00006
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=) rs373251784 0.00006
NM_000382.3(ALDH3A2):c.799-6A>G rs746519259 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000414.4(HSD17B4):c.303-11T>A rs767897278 0.00006
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg) rs140895872 0.00006
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) rs371998143 0.00006
NM_000445.5(PLEC):c.148G>T (p.Gly50Trp) rs782670240 0.00006
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.1717A>G (p.Ser573Gly) rs774417644 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000492.4(CFTR):c.1584+3292A>G rs147176173 0.00006
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.2145A>C (p.Gln715His) rs141235765 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000492.4(CFTR):c.489+87A>G rs969399514 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.662C>T (p.Ala221Val) rs752432390 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys) rs373998255 0.00006
NM_000506.5(F2):c.1815T>C (p.His605=) rs368442575 0.00006
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1335A>G (p.Val445=) rs769400504 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00006
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 0.00006
NM_000553.6(WRN):c.*511C>T rs11574413 0.00006
NM_000553.6(WRN):c.-209T>G rs886062884 0.00006
NM_000553.6(WRN):c.1451G>T (p.Ser484Ile) rs776008000 0.00006
NM_000553.6(WRN):c.1513A>C (p.Thr505Pro) rs777679266 0.00006
NM_000553.6(WRN):c.2123C>T (p.Ser708Phe) rs11574289 0.00006
NM_000553.6(WRN):c.2521G>A (p.Ala841Thr) rs748169173 0.00006
NM_000553.6(WRN):c.3091G>C (p.Val1031Leu) rs138492730 0.00006
NM_000553.6(WRN):c.4018C>T (p.Pro1340Ser) rs747312018 0.00006
NM_000553.6(WRN):c.4280G>C (p.Arg1427Thr) rs61751045 0.00006
NM_000553.6(WRN):c.847A>G (p.Ile283Val) rs201643901 0.00006
NM_000760.4(CSF3R):c.1253G>A (p.Arg418His) rs564880597 0.00006
NM_000760.4(CSF3R):c.2011G>A (p.Gly671Ser) rs1434097987 0.00006
NM_000760.4(CSF3R):c.353G>A (p.Arg118His) rs923298829 0.00006
NM_000760.4(CSF3R):c.560G>C (p.Cys187Ser) rs949262067 0.00006
NM_000782.5(CYP24A1):c.*1014C>T rs886056781 0.00006
NM_000782.5(CYP24A1):c.*51G>A rs552552032 0.00006
NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) rs550482750 0.00006
NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr) rs748676671 0.00006
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg) rs760244872 0.00006
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala) rs140851407 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) rs149366157 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001013693.3(LDLRAD2):c.*277G>A rs774542904 0.00006
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
NM_001023570.4(IQCB1):c.1751G>A (p.Ser584Asn) rs762365184 0.00006
NM_001023570.4(IQCB1):c.245A>G (p.Gln82Arg) rs373644565 0.00006
NM_001023570.4(IQCB1):c.986+5A>C rs188368640 0.00006
NM_001038603.3(MARVELD2):c.*210A>G rs886060737 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) rs181575833 0.00006
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu) rs771745973 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001040167.2(LFNG):c.1063G>A (p.Asp355Asn) rs780649312 0.00006
NM_001040167.2(LFNG):c.1123C>T (p.Arg375Cys) rs746683505 0.00006
NM_001040167.2(LFNG):c.266G>T (p.Gly89Val) rs938320862 0.00006
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg) rs758997792 0.00006
NM_001040167.2(LFNG):c.673G>A (p.Val225Ile) rs76051534 0.00006
NM_001040167.2(LFNG):c.823G>A (p.Gly275Arg) rs771781393 0.00006
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr) rs772460402 0.00006
NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser) rs186440319 0.00006
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser) rs768563605 0.00006
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn) rs776010269 0.00006
NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys) rs770079010 0.00006
NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr) rs375879929 0.00006
NM_001044385.3(TMEM237):c.*1560C>T rs983166297 0.00006
NM_001044385.3(TMEM237):c.*3992A>G rs768173661 0.00006
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001048166.1(STIL):c.1507T>G (p.Cys503Gly) rs772401403 0.00006
NM_001048166.1(STIL):c.2359G>A (p.Gly787Ser) rs148818578 0.00006
NM_001048166.1(STIL):c.26G>A (p.Arg9Gln) rs369825711 0.00006
NM_001048166.1(STIL):c.3429C>T (p.Pro1143=) rs144628824 0.00006
NM_001048174.2(MUTYH):c.1351G>A (p.Glu451Lys) rs376790729 0.00006
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_001048174.2(MUTYH):c.305-13C>G rs201207780 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001048174.2(MUTYH):c.849A>T (p.Arg283Ser) rs369973885 0.00006
NM_001077365.2(POMT1):c.*37G>A rs201474628 0.00006
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln) rs368402335 0.00006
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) rs762041003 0.00006
NM_001077418.3(TMEM231):c.582+6A>G rs376300743 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001083961.2(WDR62):c.2605G>A (p.Gly869Ser) rs377052586 0.00006
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val) rs749528768 0.00006
NM_001083961.2(WDR62):c.3063G>A (p.Thr1021=) rs750350692 0.00006
NM_001083961.2(WDR62):c.3515-7G>A rs368668756 0.00006
NM_001098484.3(SLC4A4):c.*3802C>T rs751548567 0.00006
NM_001098484.3(SLC4A4):c.*761T>C rs576650368 0.00006
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) rs771339934 0.00006
NM_001098484.3(SLC4A4):c.2031C>T (p.Tyr677=) rs200126485 0.00006
NM_001098484.3(SLC4A4):c.511A>G (p.Met171Val) rs139851720 0.00006
NM_001099287.2(NIPAL4):c.*23G>A rs371793304 0.00006
NM_001099287.2(NIPAL4):c.*445T>C rs530832561 0.00006
NM_001099287.2(NIPAL4):c.*992C>A rs886060345 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) rs939213590 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp) rs371050239 0.00006
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro) rs142884797 0.00006
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326 0.00006
NM_001111.5(ADAR):c.176A>G (p.Lys59Arg) rs756612053 0.00006
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile) rs145849344 0.00006
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln) rs371476324 0.00006
NM_001118887.2(ANGPT2):c.*3256G>A rs375022779 0.00006
NM_001127453.2(GSDME):c.577-12T>G rs752065719 0.00006
NM_001127649.3(PEX26):c.*122A>C rs753279674 0.00006
NM_001127649.3(PEX26):c.*2479G>A rs537299090 0.00006
NM_001127649.3(PEX26):c.239A>T (p.Glu80Val) rs748579402 0.00006
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084 0.00006
NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) rs369695924 0.00006
NM_001127649.3(PEX26):c.904C>T (p.Arg302Cys) rs539155271 0.00006
NM_001127671.2(LIFR):c.*10C>T rs764112814 0.00006
NM_001127671.2(LIFR):c.*5107A>G rs1035465616 0.00006
NM_001127671.2(LIFR):c.*5184G>A rs886060609 0.00006
NM_001127671.2(LIFR):c.*933G>A rs578231637 0.00006
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717 0.00006
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala) rs764878525 0.00006
NM_001128178.3(NPHP1):c.1234A>G (p.Ile412Val) rs958211666 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886 0.00006
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) rs376932915 0.00006
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069 0.00006
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) rs538170367 0.00006
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) rs151064013 0.00006
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn) rs200422222 0.00006
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys) rs148171293 0.00006
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu) rs372573603 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys) rs377706756 0.00006
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn) rs765027886 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) rs138472236 0.00006
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) rs750860886 0.00006
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735 0.00006
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro) rs142265349 0.00006
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) rs201784424 0.00006
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) rs185617318 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001134793.2(HYLS1):c.298C>T (p.Arg100Cys) rs374420210 0.00006
NM_001134831.2(AHI1):c.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001139.3(ALOX12B):c.-212C>T rs886053578 0.00006
NM_001139.3(ALOX12B):c.1497C>T (p.Arg499=) rs371016744 0.00006
NM_001139.3(ALOX12B):c.1756-9C>T rs886053562 0.00006
NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile) rs768089496 0.00006
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741 0.00006
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 0.00006
NM_001145809.2(MYH14):c.3772C>T (p.Arg1258Cys) rs201727916 0.00006
NM_001145809.2(MYH14):c.5802C>A (p.Asn1934Lys) rs745991888 0.00006
NM_001146079.2(CLDN14):c.-426C>T rs994615490 0.00006
NM_001146079.2(CLDN14):c.-436G>A rs543253636 0.00006
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) rs769599110 0.00006
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr) rs202166665 0.00006
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys) rs757640443 0.00006
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 0.00006
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) rs116898670 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) rs778956327 0.00006
NM_001173990.3(TMEM216):c.*372C>T rs565159932 0.00006
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001184.4(ATR):c.1624A>G (p.Lys542Glu) rs200491706 0.00006
NM_001184.4(ATR):c.2653G>A (p.Val885Ile) rs141606250 0.00006
NM_001184.4(ATR):c.4730G>T (p.Ser1577Ile) rs140533205 0.00006
NM_001184.4(ATR):c.6896T>C (p.Met2299Thr) rs145119827 0.00006
NM_001194998.2(CEP152):c.*231C>T rs531587783 0.00006
NM_001194998.2(CEP152):c.1578-6C>G rs80239443 0.00006
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val) rs146955708 0.00006
NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=) rs138151279 0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660 0.00006
NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala) rs773013405 0.00006
NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=) rs182367234 0.00006
NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) rs771595097 0.00006
NM_001195248.2(APTX):c.*605G>A rs545625482 0.00006
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) rs117041645 0.00006
NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln) rs1332007527 0.00006
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) rs537705878 0.00006
NM_001254.4(CDC6):c.179-14T>C rs182086857 0.00006
NM_001256317.3(TMPRSS3):c.*692G>A rs886057090 0.00006
NM_001256317.3(TMPRSS3):c.-79A>G rs771866484 0.00006
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=) rs200937562 0.00006
NM_001267550.2(TTN):c.-118G>A rs886055310 0.00006
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg) rs545443009 0.00006
NM_001267550.2(TTN):c.101218G>A (p.Gly33740Arg) rs536705240 0.00006
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val) rs149921607 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.102736C>T (p.Arg34246Cys) rs879047941 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln) rs778021095 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.10435G>A (p.Gly3479Arg) rs746691102 0.00006
NM_001267550.2(TTN):c.104561T>G (p.Val34854Gly) rs768717312 0.00006
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu) rs72629788 0.00006
NM_001267550.2(TTN):c.104912C>T (p.Ala34971Val) rs1419052992 0.00006
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr) rs771741670 0.00006
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047 0.00006
NM_001267550.2(TTN):c.106025A>G (p.Tyr35342Cys) rs1060500560 0.00006
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe) rs763752622 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00006
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=) rs761965591 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp) rs377423256 0.00006
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro) rs911182620 0.00006
NM_001267550.2(TTN):c.12801A>T (p.Leu4267Phe) rs750553032 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His) rs377062348 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu) rs201672969 0.00006
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His) rs752226947 0.00006
NM_001267550.2(TTN):c.19697G>C (p.Gly6566Ala) rs1052515116 0.00006
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) rs772947420 0.00006
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala) rs878854290 0.00006
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val) rs763125654 0.00006
NM_001267550.2(TTN):c.2331C>G (p.Ile777Met) rs1157627413 0.00006
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu) rs764248656 0.00006
NM_001267550.2(TTN):c.25231G>A (p.Val8411Ile) rs760523669 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser) rs776799144 0.00006
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=) rs727503643 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala) rs766638714 0.00006
NM_001267550.2(TTN):c.28232G>A (p.Gly9411Glu) rs563866126 0.00006
NM_001267550.2(TTN):c.28462+11T>C rs563062273 0.00006
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181 0.00006
NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr) rs200745162 0.00006
NM_001267550.2(TTN):c.3132C>T (p.Ala1044=) rs777315600 0.00006
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) rs370208651 0.00006
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 0.00006
NM_001267550.2(TTN):c.32161G>A (p.Ala10721Thr) rs753365187 0.00006
NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val) rs763205133 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.33742+1G>T rs772114165 0.00006
NM_001267550.2(TTN):c.35082C>T (p.Gly11694=) rs377761863 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001267550.2(TTN):c.36865C>A (p.Arg12289Ser) rs1480219250 0.00006
NM_001267550.2(TTN):c.37099C>G (p.Pro12367Ala) rs973940125 0.00006
NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu) rs794729416 0.00006
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) rs368056479 0.00006
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe) rs774402932 0.00006
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=) rs375519815 0.00006
NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala) rs370157162 0.00006
NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu) rs370520319 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala) rs764500643 0.00006
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser) rs774245300 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) rs770389312 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn) rs571524382 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn) rs372881122 0.00006
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln) rs376747673 0.00006
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) rs748917057 0.00006
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00006
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.49560A>T (p.Lys16520Asn) rs779658426 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln) rs758896047 0.00006
NM_001267550.2(TTN):c.53899T>A (p.Leu17967Met) rs761733751 0.00006
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln) rs794729458 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln) rs202126861 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile) rs370118111 0.00006
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) rs141105443 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=) rs370998052 0.00006
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp) rs753196873 0.00006
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val) rs138367112 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.58732+6C>T rs778350235 0.00006
NM_001267550.2(TTN):c.59173G>A (p.Glu19725Lys) rs767601396 0.00006
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe) rs555577161 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His) rs374163882 0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu) rs727505345 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=) rs776141268 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.62679C>T (p.Gly20893=) rs188059075 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His) rs777176324 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His) rs200217934 0.00006
NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn) rs373681189 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp) rs745719077 0.00006
NM_001267550.2(TTN):c.66589C>T (p.Arg22197Trp) rs774696610 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys) rs371105318 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys) rs760286642 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile) rs200878877 0.00006
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln) rs200191748 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile) rs755669336 0.00006
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser) rs376256345 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00006
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His) rs1051495269 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys) rs201724962 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe) rs3813244 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.76967A>G (p.His25656Arg) rs755172663 0.00006
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00006
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His) rs370137092 0.00006
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg) rs727505213 0.00006
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu) rs200489046 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His) rs374160272 0.00006
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val) rs886039181 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu) rs775566677 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile) rs377264123 0.00006
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr) rs200724395 0.00006
NM_001267550.2(TTN):c.86903A>G (p.His28968Arg) rs754679595 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr) rs768292510 0.00006
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00006
NM_001267550.2(TTN):c.9195G>A (p.Lys3065=) rs780650145 0.00006
NM_001267550.2(TTN):c.919G>A (p.Val307Met) rs371056974 0.00006
NM_001267550.2(TTN):c.92137G>C (p.Ala30713Pro) rs367807708 0.00006
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) rs182422055 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00006
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722 0.00006
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile) rs370918800 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) rs139992576 0.00006
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile) rs374445709 0.00006
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00006
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.97537C>T (p.Arg32513Cys) rs1279110183 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001267550.2(TTN):c.97678C>T (p.Arg32560Cys) rs760762257 0.00006
NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr) rs535612231 0.00006
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) rs142108986 0.00006
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr) rs192397712 0.00006
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln) rs142258123 0.00006
NM_001283009.2(RTEL1):c.2548G>A (p.Glu850Lys) rs757613157 0.00006
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met) rs143317975 0.00006
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001283009.2(RTEL1):c.3508C>T (p.Arg1170Trp) rs773894104 0.00006
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768 0.00006
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) rs1214561950 0.00006
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) rs376649351 0.00006
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) rs755889131 0.00006
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) rs201702546 0.00006
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) rs373649439 0.00006
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) rs755205238 0.00006
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) rs573870218 0.00006
NM_001329943.3(KIAA0586):c.807+3A>T rs771308299 0.00006
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) rs553130671 0.00006
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) rs191232589 0.00006
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe) rs200854314 0.00006
NM_001351132.2(PEX5):c.*722G>A rs886049831 0.00006
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr) rs369698308 0.00006
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007 0.00006
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr) rs143600154 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp) rs147730752 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00006
NM_001366722.1(GRIP1):c.*1019C>T rs1345779940 0.00006
NM_001366722.1(GRIP1):c.*235G>T rs886049796 0.00006
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) rs540468070 0.00006
NM_001366722.1(GRIP1):c.3222C>T (p.Ser1074=) rs558365010 0.00006
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) rs542462169 0.00006
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) rs745385522 0.00006
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898 0.00006
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser) rs755066385 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=) rs866760637 0.00006
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=) rs762487170 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873 0.00006
NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met) rs572438037 0.00006
NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=) rs139173161 0.00006
NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu) rs143843185 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316 0.00006
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala) rs189851617 0.00006
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00006
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395 0.00006
NM_001378454.1(ALMS1):c.3944C>T (p.Ala1315Val) rs750671777 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00006
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr) rs894421376 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu) rs200034384 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001379180.1(ESRRB):c.*1604G>A rs371116651 0.00006
NM_001379286.1(ZNF423):c.1253G>A (p.Ser418Asn) rs368014239 0.00006
NM_001379286.1(ZNF423):c.2275C>T (p.Arg759Cys) rs757246232 0.00006
NM_001379286.1(ZNF423):c.2302C>T (p.Arg768Cys) rs764927116 0.00006
NM_001379286.1(ZNF423):c.2669C>T (p.Ser890Leu) rs777639594 0.00006
NM_001379286.1(ZNF423):c.290G>A (p.Arg97His) rs745597535 0.00006
NM_001379286.1(ZNF423):c.3176C>T (p.Ala1059Val) rs750497057 0.00006
NM_001379286.1(ZNF423):c.40+33059A>G rs147713709 0.00006
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) rs374330054 0.00006
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) rs533227813 0.00006
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) rs757384412 0.00006
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) rs376353407 0.00006
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) rs371072368 0.00006
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln) rs753457449 0.00006
NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu) rs930665715 0.00006
NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile) rs374715306 0.00006
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His) rs199824864 0.00006
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00006
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=) rs746404657 0.00006
NM_001384140.1(PCDH15):c.3501+6C>T rs370178425 0.00006
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898 0.00006
NM_001384140.1(PCDH15):c.4368-1070T>A rs886047054 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384140.1(PCDH15):c.882A>G (p.Glu294=) rs181232514 0.00006
NM_001384474.1(LOXHD1):c.*94T>C rs181233520 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00006
NM_001384474.1(LOXHD1):c.3165C>T (p.Gly1055=) rs768431469 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4389G>A (p.Ser1463=) rs375146333 0.00006
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001384474.1(LOXHD1):c.5772G>A (p.Ser1924=) rs375400056 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg) rs778228882 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001386140.1(MTTP):c.*1118C>T rs144013236 0.00006
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00006
NM_001386140.1(MTTP):c.393+11G>A rs367982075 0.00006
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) rs375982037 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_001393500.2(TOMT):c.123A>G (p.Ser41=) rs397516626 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) rs774976739 0.00006
NM_001692.4(ATP6V1B1):c.1199T>C (p.Ile400Thr) rs201630416 0.00006
NM_001692.4(ATP6V1B1):c.362T>A (p.Met121Lys) rs201325403 0.00006
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His) rs782110679 0.00006
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498 0.00006
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798 0.00006
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472 0.00006
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444 0.00006
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) rs372940951 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) rs746259825 0.00006
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797 0.00006
NM_002230.4(JUP):c.*351G>A rs782725604 0.00006
NM_002230.4(JUP):c.-51C>G rs886052920 0.00006
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002241.5(KCNJ10):c.*1653T>C rs886045407 0.00006
NM_002241.5(KCNJ10):c.*2754G>C rs1027968987 0.00006
NM_002241.5(KCNJ10):c.*3074C>T rs181875026 0.00006
NM_002241.5(KCNJ10):c.*783A>G rs886045409 0.00006
NM_002292.4(LAMB2):c.*92A>G rs886058670 0.00006
NM_002292.4(LAMB2):c.1327C>T (p.His443Tyr) rs200732790 0.00006
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727 0.00006
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu) rs373260991 0.00006
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) rs142860588 0.00006
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp) rs754551568 0.00006
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln) rs149653966 0.00006
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val) rs773681564 0.00006
NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys) rs143284092 0.00006
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=) rs186771094 0.00006
NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln) rs202135107 0.00006
NM_002292.4(LAMB2):c.385+5G>A rs540191089 0.00006
NM_002292.4(LAMB2):c.4573+5G>A rs372438959 0.00006
NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp) rs200165604 0.00006
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln) rs772368832 0.00006
NM_002292.4(LAMB2):c.915+6G>A rs2071677 0.00006
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser) rs774097621 0.00006
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val) rs201576246 0.00006
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) rs759674127 0.00006
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile) rs376914943 0.00006
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) rs377258285 0.00006
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=) rs368178411 0.00006
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val) rs753256748 0.00006
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) rs377323023 0.00006
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg) rs185235284 0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) rs375421492 0.00006
NM_002473.6(MYH9):c.*73C>T rs1045383138 0.00006
NM_002473.6(MYH9):c.1578C>G (p.Ala526=) rs201827299 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val) rs139039608 0.00006
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) rs149169068 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.5787C>T (p.Val1929=) rs367698156 0.00006
NM_002485.4(NBN):c.*2252T>A rs1002146586 0.00006
NM_002485.5(NBN):c.*638G>A rs976356195 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_002617.4(PEX10):c.*594C>T rs760677467 0.00006
NM_002617.4(PEX10):c.*627C>T rs886046142 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_002617.4(PEX10):c.605G>A (p.Arg202His) rs371979619 0.00006
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00006
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro) rs780507609 0.00006
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441 0.00006
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile) rs199683357 0.00006
NM_002617.4(PEX10):c.839G>A (p.Arg280His) rs758678654 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_002635.4(SLC25A3):c.61C>T (p.Leu21=) rs148667033 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002700.3(POU4F3):c.24G>A (p.Gln8=) rs764308870 0.00006
NM_002855.5(NECTIN1):c.*2847C>T rs572933507 0.00006
NM_002855.5(NECTIN1):c.*3032T>C rs774879984 0.00006
NM_002855.5(NECTIN1):c.*886C>T rs992176073 0.00006
NM_002855.5(NECTIN1):c.177C>T (p.Ser59=) rs139418917 0.00006
NM_002855.5(NECTIN1):c.429G>A (p.Met143Ile) rs371142221 0.00006
NM_002857.4(PEX19):c.*1761C>A rs761868324 0.00006
NM_002857.4(PEX19):c.*2068T>C rs536872409 0.00006
NM_002857.4(PEX19):c.*427A>G rs886045447 0.00006
NM_002857.4(PEX19):c.347-7C>T rs753523567 0.00006
NM_002857.4(PEX19):c.488A>G (p.Asp163Gly) rs138174625 0.00006
NM_002860.4(ALDH18A1):c.*293G>A rs913851343 0.00006
NM_002860.4(ALDH18A1):c.-140G>A rs931860076 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_002906.4(RDX):c.*1173A>G rs753716470 0.00006
NM_002906.4(RDX):c.*1579A>G rs772084374 0.00006
NM_002906.4(RDX):c.-76C>T rs886047652 0.00006
NM_002906.4(RDX):c.1251+14T>G rs376397960 0.00006
NM_002906.4(RDX):c.698+14T>C rs367814331 0.00006
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003193.5(TBCE):c.963+8C>G rs199555636 0.00006
NM_003332.4(TYROBP):c.140T>C (p.Val47Ala) rs372140827 0.00006
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) rs372577949 0.00006
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) rs17848383 0.00006
NM_003383.5(VLDLR):c.449-14C>G rs370176704 0.00006
NM_003384.3(VRK1):c.*107A>G rs375987917 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_003672.4(CDC14A):c.1745G>A (p.Arg582His) rs148639495 0.00006
NM_003701.4(TNFSF11):c.*754A>C rs924942406 0.00006
NM_003839.4(TNFRSF11A):c.*214G>A rs886054085 0.00006
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) rs199863919 0.00006
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) rs149842577 0.00006
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) rs369527712 0.00006
NM_003896.4(ST3GAL5):c.*355G>A rs573408903 0.00006
NM_003896.4(ST3GAL5):c.*412C>T rs777207755 0.00006
NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe) rs146955794 0.00006
NM_003896.4(ST3GAL5):c.738G>C (p.Glu246Asp) rs755264272 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004086.3(COCH):c.*342A>T rs913851990 0.00006
NM_004100.5(EYA4):c.*1812G>T rs555600336 0.00006
NM_004100.5(EYA4):c.*633G>A rs996978211 0.00006
NM_004100.5(EYA4):c.1338A>G (p.Leu446=) rs200309400 0.00006
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp) rs201805499 0.00006
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys) rs148581880 0.00006
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361 0.00006
NM_004393.6(DAG1):c.1708G>A (p.Val570Met) rs370669533 0.00006
NM_004393.6(DAG1):c.244A>G (p.Ile82Val) rs141706514 0.00006
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735 0.00006
NM_004393.6(DAG1):c.293C>T (p.Ala98Val) rs200871775 0.00006
NM_004393.6(DAG1):c.829G>A (p.Val277Ile) rs375892170 0.00006
NM_004407.4(DMP1):c.*695T>A rs886059690 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004426.3(PHC1):c.2626C>T (p.Arg876Trp) rs372044180 0.00006
NM_004525.3(LRP2):c.2435G>A (p.Arg812Lys) rs376367082 0.00006
NM_004525.3(LRP2):c.2455C>T (p.Arg819Cys) rs749942746 0.00006
NM_004525.3(LRP2):c.2540G>A (p.Arg847His) rs537125368 0.00006
NM_004525.3(LRP2):c.4092T>C (p.Cys1364=) rs200311104 0.00006
NM_004525.3(LRP2):c.4234C>T (p.Arg1412Trp) rs145669628 0.00006
NM_004525.3(LRP2):c.4745C>T (p.Ala1582Val) rs183726294 0.00006
NM_004525.3(LRP2):c.630C>T (p.Asp210=) rs368336310 0.00006
NM_004525.3(LRP2):c.6650G>A (p.Arg2217His) rs369240219 0.00006
NM_004525.3(LRP2):c.6766G>T (p.Asp2256Tyr) rs143262722 0.00006
NM_004525.3(LRP2):c.6971G>A (p.Arg2324Lys) rs747507071 0.00006
NM_004525.3(LRP2):c.7261G>A (p.Val2421Ile) rs138673723 0.00006
NM_004525.3(LRP2):c.7493C>G (p.Ser2498Cys) rs142613860 0.00006
NM_004525.3(LRP2):c.7498C>T (p.Arg2500Cys) rs201081898 0.00006
NM_004525.3(LRP2):c.8513G>A (p.Arg2838His) rs142214474 0.00006
NM_004525.3(LRP2):c.9124G>A (p.Gly3042Arg) rs376039022 0.00006
NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg) rs151187583 0.00006
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys) rs1463489541 0.00006
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=) rs199681534 0.00006
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_004560.4(ROR2):c.37C>G (p.Leu13Val) rs1053014086 0.00006
NM_004560.4(ROR2):c.678C>T (p.Phe226=) rs202159869 0.00006
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) rs374492597 0.00006
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu) rs201979629 0.00006
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137 0.00006
NM_004565.3(PEX14):c.577G>A (p.Ala193Thr) rs369625174 0.00006
NM_004565.3(PEX14):c.911A>T (p.Asp304Val) rs199860518 0.00006
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_004744.5(LRAT):c.*1585T>G rs886059168 0.00006
NM_004813.4(PEX16):c.*341C>T rs559300237 0.00006
NM_004813.4(PEX16):c.*53C>G rs369974509 0.00006
NM_004830.4(MED23):c.367C>T (p.Arg123Trp) rs374403178 0.00006
NM_004836.7(EIF2AK3):c.*99C>T rs771892864 0.00006
NM_004836.7(EIF2AK3):c.-17C>G rs755314163 0.00006
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00006
NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg) rs886056418 0.00006
NM_004937.3(CTNS):c.*1336G>A rs541263497 0.00006
NM_004937.3(CTNS):c.*1874G>A rs886052880 0.00006
NM_004937.3(CTNS):c.830C>T (p.Thr277Met) rs757009591 0.00006
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513 0.00006
NM_005199.5(CHRNG):c.806-13C>T rs375760045 0.00006
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00006
NM_005219.5(DIAPH1):c.*701T>C rs886060030 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055 0.00006
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) rs200688040 0.00006
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu) rs774909066 0.00006
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) rs552142099 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.260G>A (p.Arg87His) rs371487368 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) rs61753849 0.00006
NM_005422.4(TECTA):c.1089G>T (p.Val363=) rs145913741 0.00006
NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) rs139269834 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.3216C>T (p.Cys1072=) rs760328639 0.00006
NM_005422.4(TECTA):c.4594G>A (p.Asp1532Asn) rs199809873 0.00006
NM_005422.4(TECTA):c.5743A>C (p.Met1915Leu) rs749089815 0.00006
NM_005422.4(TECTA):c.6135C>T (p.Cys2045=) rs139552118 0.00006
NM_005422.4(TECTA):c.762T>A (p.Ile254=) rs142743467 0.00006
NM_005522.5(HOXA1):c.*1387C>G rs558870068 0.00006
NM_005529.7(HSPG2):c.10096C>T (p.Arg3366Trp) rs139956831 0.00006
NM_005529.7(HSPG2):c.10144G>A (p.Val3382Ile) rs147177951 0.00006
NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu) rs763711047 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005529.7(HSPG2):c.13172C>T (p.Ser4391Leu) rs961325868 0.00006
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.1508-9G>A rs538216424 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.3183+10A>T rs368807853 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile) rs372633230 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005529.7(HSPG2):c.8759-13C>T rs139605410 0.00006
NM_005708.5(GPC6):c.*1375C>T rs868223184 0.00006
NM_005708.5(GPC6):c.*3639G>A rs546159818 0.00006
NM_005708.5(GPC6):c.1033A>G (p.Lys345Glu) rs773575076 0.00006
NM_005708.5(GPC6):c.1037C>T (p.Pro346Leu) rs760976594 0.00006
NM_005708.5(GPC6):c.1216A>G (p.Ile406Val) rs760752648 0.00006
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) rs141282419 0.00006
NM_005881.4(BCKDK):c.556G>A (p.Val186Ile) rs188092823 0.00006
NM_005982.4(SIX1):c.-161G>C rs886050573 0.00006
NM_005982.4(SIX1):c.-185T>C rs745791461 0.00006
NM_006005.3(WFS1):c.*654G>A rs886059539 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) rs144452795 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) rs141477172 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) rs758613421 0.00006
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) rs148611943 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=) rs71537675 0.00006
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) rs767957602 0.00006
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) rs373662682 0.00006
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) rs769151204 0.00006
NM_006005.3(WFS1):c.862-3C>G rs201889635 0.00006
NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu) rs782019621 0.00006
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser) rs369222109 0.00006
NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys) rs770889100 0.00006
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=) rs370181947 0.00006
NM_006019.4(TCIRG1):c.2119-4G>A rs554600980 0.00006
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 0.00006
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00006
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp) rs200890522 0.00006
NM_006208.3(ENPP1):c.*4586G>A rs886061083 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp) rs140655170 0.00006
NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=) rs762363861 0.00006
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly) rs749085589 0.00006
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln) rs753695101 0.00006
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala) rs767046465 0.00006
NM_006397.3(RNASEH2A):c.838C>T (p.Arg280Cys) rs375883546 0.00006
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys) rs764614950 0.00006
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu) rs1308863502 0.00006
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr) rs145984257 0.00006
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln) rs375037219 0.00006
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys) rs372641187 0.00006
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg) rs750977682 0.00006
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His) rs577345357 0.00006
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly) rs377564587 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_006721.4(ADK):c.66-23966T>C rs886047235 0.00006
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn) rs746079387 0.00006
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly) rs755808199 0.00006
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg) rs765752936 0.00006
NM_006846.4(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589 0.00006
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667 0.00006
NM_006846.4(SPINK5):c.1820+11G>A rs796478719 0.00006
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp) rs369782107 0.00006
NM_006846.4(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938 0.00006
NM_006846.4(SPINK5):c.3035C>T (p.Pro1012Leu) rs373802380 0.00006
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr) rs990074605 0.00006
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr) rs778955846 0.00006
NM_006846.4(SPINK5):c.677A>G (p.Lys226Arg) rs370010334 0.00006
NM_006892.4(DNMT3B):c.*1076C>T rs779656204 0.00006
NM_006892.4(DNMT3B):c.*1332C>T rs754924547 0.00006
NM_006892.4(DNMT3B):c.*312C>G rs1002133930 0.00006
NM_006892.4(DNMT3B):c.*90T>G rs886056619 0.00006
NM_006892.4(DNMT3B):c.1087C>T (p.Arg363Cys) rs113400552 0.00006
NM_006892.4(DNMT3B):c.143-9C>G rs377138079 0.00006
NM_006892.4(DNMT3B):c.14C>G (p.Thr5Ser) rs201455430 0.00006
NM_006892.4(DNMT3B):c.1996+7A>G rs556202476 0.00006
NM_006892.4(DNMT3B):c.340C>T (p.Arg114Trp) rs749197342 0.00006
NM_006892.4(DNMT3B):c.40G>C (p.Ala14Pro) rs770859652 0.00006
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00006
NM_006996.3(SLC19A2):c.-2G>A rs886045531 0.00006
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser) rs886045530 0.00006
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg) rs139992347 0.00006
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn) rs1315600520 0.00006
NM_012210.4(TRIM32):c.*1424C>G rs886473067 0.00006
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His) rs183136193 0.00006
NM_012210.4(TRIM32):c.1688G>A (p.Arg563His) rs138056275 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg) rs777911858 0.00006
NM_012210.4(TRIM32):c.973A>G (p.Met325Val) rs148027625 0.00006
NM_012233.3(RAB3GAP1):c.*1693G>C rs144378327 0.00006
NM_012233.3(RAB3GAP1):c.*1764C>G rs917952866 0.00006
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) rs200175711 0.00006
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) rs587780426 0.00006
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) rs751620093 0.00006
NM_012414.4(RAB3GAP2):c.*777T>C rs1377423461 0.00006
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 0.00006
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) rs200632298 0.00006
NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) rs777230664 0.00006
NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) rs199894785 0.00006
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_013382.7(POMT2):c.*1548G>A rs902166672 0.00006
NM_013382.7(POMT2):c.*1818T>C rs1010549526 0.00006
NM_013382.7(POMT2):c.*637C>G rs1327896686 0.00006
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) rs1239345534 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_014053.4(FLVCR1):c.*114C>T rs184177347 0.00006
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482 0.00006
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg) rs1299454627 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.169G>C (p.Glu57Gln) rs1021024627 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_014363.6(SACS):c.954A>G (p.Leu318=) rs147412202 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.9551G>A (p.Arg3184His) rs200453385 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser) rs116686341 0.00006
NM_014425.5(INVS):c.2444G>A (p.Arg815Gln) rs200477298 0.00006
NM_014425.5(INVS):c.2673T>G (p.Ile891Met) rs775260392 0.00006
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 0.00006
NM_014425.5(INVS):c.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014425.5(INVS):c.2919C>A (p.Phe973Leu) rs374199927 0.00006
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln) rs189054608 0.00006
NM_014780.5(CUL7):c.5041C>T (p.Arg1681Trp) rs375165020 0.00006
NM_014780.5(CUL7):c.509T>G (p.Leu170Trp) rs138430226 0.00006
NM_014797.3(ZBTB24):c.1666G>A (p.Val556Ile) rs778110573 0.00006
NM_014797.3(ZBTB24):c.1715G>A (p.Gly572Glu) rs139726759 0.00006
NM_014797.3(ZBTB24):c.716A>G (p.Tyr239Cys) rs752600909 0.00006
NM_014797.3(ZBTB24):c.730G>C (p.Glu244Gln) rs113516976 0.00006
NM_014797.3(ZBTB24):c.806T>C (p.Leu269Pro) rs748755172 0.00006
NM_014797.3(ZBTB24):c.860A>G (p.Lys287Arg) rs1456427014 0.00006
NM_014806.5(RUSC2):c.737G>A (p.Gly246Glu) rs894040978 0.00006
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr) rs779345917 0.00006
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr) rs747800943 0.00006
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile) rs369322915 0.00006
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu) rs757822725 0.00006
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val) rs751866377 0.00006
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu) rs377394847 0.00006
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu) rs148116542 0.00006
NM_014994.3(MAPKBP1):c.227A>G (p.Asn76Ser) rs199917154 0.00006
NM_015046.7(SETX):c.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His) rs369550765 0.00006
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 0.00006
NM_015102.5(NPHP4):c.1106G>T (p.Gly369Val) rs758027686 0.00006
NM_015102.5(NPHP4):c.1166T>C (p.Val389Ala) rs368324380 0.00006
NM_015102.5(NPHP4):c.1169G>A (p.Arg390His) rs146637048 0.00006
NM_015102.5(NPHP4):c.1222C>T (p.Pro408Ser) rs201192228 0.00006
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr) rs373614448 0.00006
NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu) rs762305544 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048 0.00006
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) rs775927621 0.00006
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys) rs376773394 0.00006
NM_015102.5(NPHP4):c.2893G>A (p.Glu965Lys) rs192464308 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515 0.00006
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu) rs376508978 0.00006
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val) rs777310738 0.00006
NM_015102.5(NPHP4):c.3169G>A (p.Glu1057Lys) rs755465110 0.00006
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00006
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141 0.00006
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp) rs762195159 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln) rs768550124 0.00006
NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met) rs371657189 0.00006
NM_015102.5(NPHP4):c.551G>A (p.Ser184Asn) rs371641969 0.00006
NM_015102.5(NPHP4):c.619C>T (p.Leu207=) rs765514910 0.00006
NM_015102.5(NPHP4):c.856C>T (p.Arg286Cys) rs189511182 0.00006
NM_015102.5(NPHP4):c.863G>A (p.Arg288His) rs774872736 0.00006
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213 0.00006
NM_015160.3(PMPCA):c.258G>C (p.Gln86His) rs141305380 0.00006
NM_015272.5(RPGRIP1L):c.*1276G>A rs375800554 0.00006
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090 0.00006
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762 0.00006
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015294.6(TRIM37):c.-419G>T rs549763737 0.00006
NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) rs532325984 0.00006
NM_015311.3(OBSL1):c.1268A>G (p.Asn423Ser) rs374200326 0.00006
NM_015311.3(OBSL1):c.268G>A (p.Ala90Thr) rs1438844681 0.00006
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) rs766548555 0.00006
NM_015311.3(OBSL1):c.4609+12G>A rs367810594 0.00006
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) rs746864661 0.00006
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) rs142665087 0.00006
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr) rs148356821 0.00006
NM_015404.4(WHRN):c.*339C>A rs774074739 0.00006
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) rs369521178 0.00006
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335 0.00006
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys) rs750834235 0.00006
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) rs200354989 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) rs202165710 0.00006
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00006
NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr) rs768257163 0.00006
NM_015602.4(TOR1AIP1):c.1210C>T (p.Arg404Trp) rs541059100 0.00006
NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val) rs376697448 0.00006
NM_015602.4(TOR1AIP1):c.301G>A (p.Glu101Lys) rs376720897 0.00006
NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys) rs749592068 0.00006
NM_015602.4(TOR1AIP1):c.463C>T (p.His155Tyr) rs540366779 0.00006
NM_015650.4(TRAF3IP1):c.1064G>A (p.Gly355Glu) rs560016209 0.00006
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val) rs762431558 0.00006
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015702.3(MMADHC):c.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_015910.6(WDPCP):c.-227C>G rs376940318 0.00006
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys) rs769112221 0.00006
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn) rs780625068 0.00006
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_015910.7(WDPCP):c.739G>A (p.Asp247Asn) rs376249713 0.00006
NM_016122.3(CEP83):c.1655A>T (p.Lys552Met) rs377015196 0.00006
NM_016219.5(MAN1B1):c.*113G>A rs762819985 0.00006
NM_016219.5(MAN1B1):c.*86C>T rs771691552 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile) rs143449562 0.00006
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val) rs573043401 0.00006
NM_016239.4(MYO15A):c.*747T>C rs138272762 0.00006
NM_016239.4(MYO15A):c.10083-4A>C rs550552225 0.00006
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg) rs781006180 0.00006
NM_016239.4(MYO15A):c.381C>G (p.Leu127=) rs199520255 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00006
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln) rs369518617 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) rs374951514 0.00006
NM_016239.4(MYO15A):c.6899A>C (p.Lys2300Thr) rs772965932 0.00006
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) rs374160194 0.00006
NM_016239.4(MYO15A):c.9585C>T (p.Pro3195=) rs1007046371 0.00006
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) rs1056029060 0.00006
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr) rs199585408 0.00006
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys) rs761545702 0.00006
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr) rs368670215 0.00006
NM_016464.5(TMEM138):c.*354C>G rs889868449 0.00006
NM_016464.5(TMEM138):c.*547C>T rs781358495 0.00006
NM_016464.5(TMEM138):c.-164T>C rs886048407 0.00006
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu) rs146879673 0.00006
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu) rs779247685 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) rs546162289 0.00006
NM_017433.5(MYO3A):c.1662-9T>A rs200678745 0.00006
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln) rs141421141 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser) rs928775924 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn) rs746295635 0.00006
NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg) rs761659935 0.00006
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr) rs761768584 0.00006
NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys) rs201191528 0.00006
NM_018136.5(ASPM):c.1184A>G (p.Gln395Arg) rs147820821 0.00006
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) rs587783218 0.00006
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr) rs149162314 0.00006
NM_018136.5(ASPM):c.2640A>G (p.Glu880=) rs144908700 0.00006
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser) rs376541100 0.00006
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg) rs62623448 0.00006
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr) rs200800956 0.00006
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp) rs150424130 0.00006
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln) rs747515767 0.00006
NM_018136.5(ASPM):c.9932C>T (p.Pro3311Leu) rs886045761 0.00006
NM_018249.6(CDK5RAP2):c.2644C>G (p.Leu882Val) rs587783383 0.00006
NM_018249.6(CDK5RAP2):c.3265T>C (p.Ser1089Pro) rs138526640 0.00006
NM_018249.6(CDK5RAP2):c.4325C>T (p.Ser1442Leu) rs376138280 0.00006
NM_018249.6(CDK5RAP2):c.4425G>T (p.Lys1475Asn) rs587783389 0.00006
NM_018249.6(CDK5RAP2):c.5517G>A (p.Leu1839=) rs374625129 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_018319.4(TDP1):c.*904C>T rs886050884 0.00006
NM_018319.4(TDP1):c.789C>T (p.His263=) rs562317662 0.00006
NM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val) rs377292146 0.00006
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00006
NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg) rs761945760 0.00006
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_018451.5(CENPJ):c.579A>C (p.Leu193Phe) rs558449977 0.00006
NM_018451.5(CENPJ):c.699G>A (p.Pro233=) rs587783413 0.00006
NM_018451.5(CENPJ):c.865+8A>G rs373509972 0.00006
NM_018699.4(PRDM5):c.*176T>C rs558671397 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_018718.3(CEP41):c.*1411G>T rs886061996 0.00006
NM_018718.3(CEP41):c.*409A>C rs782042681 0.00006
NM_018718.3(CEP41):c.*776G>A rs374833862 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_018972.2(GDAP1):c.*2675C>T rs957273627 0.00006
NM_018972.4(GDAP1):c.*1905A>G rs185710169 0.00006
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_018972.4(GDAP1):c.694+5G>A rs752550394 0.00006
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu) rs372947608 0.00006
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val) rs141687205 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020347.4(LZTFL1):c.56G>A (p.Arg19His) rs537401357 0.00006
NM_020458.4(TTC7A):c.427A>G (p.Met143Val) rs762713132 0.00006
NM_020458.4(TTC7A):c.488G>A (p.Arg163Gln) rs781503883 0.00006
NM_020458.4(TTC7A):c.562C>T (p.Arg188Cys) rs544316606 0.00006
NM_020458.4(TTC7A):c.718C>G (p.Leu240Val) rs144671396 0.00006
NM_020458.4(TTC7A):c.932T>C (p.Phe311Ser) rs752035389 0.00006
NM_020458.4(TTC7A):c.958G>A (p.Ala320Thr) rs756596268 0.00006
NM_020631.5(PLEKHG5):c.*1332C>A rs538419041 0.00006
NM_020631.5(PLEKHG5):c.*1333C>T rs1157083758 0.00006
NM_020631.6(PLEKHG5):c.*304C>T rs549168459 0.00006
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619 0.00006
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln) rs373611638 0.00006
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313 0.00006
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp) rs139188442 0.00006
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662 0.00006
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys) rs763551102 0.00006
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met) rs373678202 0.00006
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00006
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.790A>G (p.Asn264Asp) rs1386329721 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_020632.3(ATP6V0A4):c.946G>A (p.Val316Ile) rs201744457 0.00006
NM_020661.4(AICDA):c.*1010C>T rs1018192148 0.00006
NM_020661.4(AICDA):c.457G>C (p.Glu153Gln) rs1206955819 0.00006
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) rs371757004 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) rs778732776 0.00006
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile) rs377535267 0.00006
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val) rs754516323 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) rs370377789 0.00006
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_020964.3(EPG5):c.1252+5G>C rs375372125 0.00006
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln) rs142601828 0.00006
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113 0.00006
NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala) rs371884344 0.00006
NM_020964.3(EPG5):c.3002C>T (p.Thr1001Ile) rs369506924 0.00006
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly) rs761327582 0.00006
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00006
NM_020964.3(EPG5):c.4360C>T (p.Arg1454Cys) rs550924483 0.00006
NM_020964.3(EPG5):c.5210A>G (p.Asn1737Ser) rs201509640 0.00006
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg) rs369070714 0.00006
NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn) rs200967600 0.00006
NM_021252.5(RAB18):c.*1696T>A rs886046973 0.00006
NM_021252.5(RAB18):c.36C>A (p.Leu12=) rs61757825 0.00006
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) rs190213580 0.00006
NM_021628.3(ALOXE3):c.1555A>G (p.Ile519Val) rs772608978 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly) rs200078740 0.00006
NM_021942.6(TRAPPC11):c.1133A>G (p.Asn378Ser) rs780991425 0.00006
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu) rs150383310 0.00006
NM_021942.6(TRAPPC11):c.1530G>T (p.Lys510Asn) rs139154209 0.00006
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg) rs533474499 0.00006
NM_021942.6(TRAPPC11):c.205-10A>G rs746348297 0.00006
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile) rs373484248 0.00006
NM_021942.6(TRAPPC11):c.451G>A (p.Asp151Asn) rs770451885 0.00006
NM_021942.6(TRAPPC11):c.832-3C>A rs368922437 0.00006
NM_021971.4(GMPPB):c.554G>A (p.Arg185His) rs755165049 0.00006
NM_021971.4(GMPPB):c.869C>T (p.Thr290Met) rs139668958 0.00006
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) rs555691965 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) rs376070950 0.00006
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val) rs147260398 0.00006
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu) rs373607247 0.00006
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val) rs190323680 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 0.00006
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val) rs376169767 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr) rs761338717 0.00006
NM_022098.4(XPNPEP3):c.*4227C>T rs574241355 0.00006
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.1241G>A (p.Arg414Gln) rs561032891 0.00006
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.2289C>T (p.Thr763=) rs770008354 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val) rs202203105 0.00006
NM_022124.6(CDH23):c.3021C>T (p.Asp1007=) rs771887370 0.00006
NM_022124.6(CDH23):c.324C>T (p.Ser108=) rs373668614 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) rs201884261 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His) rs767004225 0.00006
NM_022124.6(CDH23):c.419G>A (p.Arg140His) rs201361229 0.00006
NM_022124.6(CDH23):c.42T>C (p.Leu14=) rs371440350 0.00006
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys) rs201533282 0.00006
NM_022124.6(CDH23):c.460G>A (p.Val154Met) rs199741966 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.4700T>C (p.Ile1567Thr) rs756184489 0.00006
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933 0.00006
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu) rs369761606 0.00006
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His) rs780409612 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00006
NM_022124.6(CDH23):c.8784C>T (p.Phe2928=) rs755305739 0.00006
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) rs781716568 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met) rs559427378 0.00006
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_022168.4(IFIH1):c.2299del (p.Thr767fs) rs759430873 0.00006
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040 0.00006
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn) rs768520868 0.00006
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793 0.00006
NM_022336.4(EDAR):c.*1710G>C rs1042398708 0.00006
NM_022336.4(EDAR):c.*402G>A rs758376546 0.00006
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) rs748806220 0.00006
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378 0.00006
NM_024301.5(FKRP):c.633G>A (p.Ser211=) rs921883036 0.00006
NM_024570.4(RNASEH2B):c.244+3A>G rs371461579 0.00006
NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu) rs1340493334 0.00006
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382 0.00006
NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg) rs749003546 0.00006
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp) rs763114241 0.00006
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) rs757012933 0.00006
NM_024649.5(BBS1):c.*473C>T rs886048526 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 0.00006
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) rs369653969 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) rs760381850 0.00006
NM_024685.4(BBS10):c.*1325T>C rs571032291 0.00006
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro) rs200505317 0.00006
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) rs200137653 0.00006
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.179T>A (p.Phe60Tyr) rs371571631 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro) rs150783918 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2305A>T (p.Thr769Ser) rs373564710 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala) rs145726127 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val) rs370860586 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_025074.7(FRAS1):c.*1613C>T rs952918668 0.00006
NM_025074.7(FRAS1):c.10129G>A (p.Val3377Ile) rs573489939 0.00006
NM_025074.7(FRAS1):c.10390-6C>T rs139412411 0.00006
NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=) rs778772211 0.00006
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val) rs373595232 0.00006
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly) rs550166836 0.00006
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) rs367598897 0.00006
NM_025074.7(FRAS1):c.2515G>A (p.Gly839Arg) rs199918192 0.00006
NM_025074.7(FRAS1):c.2803G>C (p.Gly935Arg) rs200113218 0.00006
NM_025074.7(FRAS1):c.3567A>G (p.Lys1189=) rs778818485 0.00006
NM_025074.7(FRAS1):c.4367T>C (p.Ile1456Thr) rs560902495 0.00006
NM_025074.7(FRAS1):c.4678+5T>C rs76993002 0.00006
NM_025074.7(FRAS1):c.524G>A (p.Ser175Asn) rs772288910 0.00006
NM_025074.7(FRAS1):c.5756G>A (p.Ser1919Asn) rs763355889 0.00006
NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=) rs373744776 0.00006
NM_025074.7(FRAS1):c.903G>A (p.Ser301=) rs373613705 0.00006
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val) rs1313832672 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp) rs771110294 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_025114.4(CEP290):c.5709+12A>G rs371010287 0.00006
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2292A>T (p.Gln764His) rs1340705825 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr) rs756862143 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) rs372799054 0.00006
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys) rs746465783 0.00006
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) rs145048660 0.00006
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) rs572874105 0.00006
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr) rs199918247 0.00006
NM_031942.5(CDCA7):c.731C>T (p.Pro244Leu) rs770948684 0.00006
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) rs397517420 0.00006
NM_032119.4(ADGRV1):c.12786C>T (p.Ser4262=) rs201777525 0.00006
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547 0.00006
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys) rs746621216 0.00006
NM_032119.4(ADGRV1):c.17204+4A>G rs376691612 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375 0.00006
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=) rs374348614 0.00006
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719 0.00006
NM_032237.5(POMK):c.701T>C (p.Val234Ala) rs185390123 0.00006
NM_032575.3(GLIS2):c.*1465G>A rs762692214 0.00006
NM_032575.3(GLIS2):c.*757G>A rs556283047 0.00006
NM_032575.3(GLIS2):c.*856C>T rs886051996 0.00006
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=) rs749282837 0.00006
NM_033028.5(BBS4):c.1107-7G>A rs766664389 0.00006
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser) rs375558008 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) rs769886837 0.00006
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val) rs528484622 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys) rs775361471 0.00006
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro) rs748917362 0.00006
NM_033064.5(ATCAY):c.*2395G>A rs550621569 0.00006
NM_033064.5(ATCAY):c.*3377G>A rs975924890 0.00006
NM_033064.5(ATCAY):c.*3415G>A rs546687056 0.00006
NM_033064.5(ATCAY):c.647+14C>T rs755568668 0.00006
NM_033550.4(TP53RK):c.544A>G (p.Ile182Val) rs200921554 0.00006
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp) rs759594113 0.00006
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala) rs761651331 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 0.00006
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser) rs765609390 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_130384.3(ATRIP):c.*495C>T rs377157141 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) rs374783099 0.00006
NM_133379.5(TTN):c.14321A>G (p.Lys4774Arg) rs768589711 0.00006
NM_133379.5(TTN):c.16582G>A (p.Gly5528Ser) rs762590088 0.00006
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr) rs140585667 0.00006
NM_138387.4(G6PC3):c.169G>A (p.Val57Met) rs150477295 0.00006
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) rs779584053 0.00006
NM_138387.4(G6PC3):c.883G>T (p.Gly295Cys) rs202238577 0.00006
NM_138691.3(TMC1):c.-220C>T rs1057515621 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_138694.4(PKHD1):c.*1154A>G rs548889112 0.00006
NM_138694.4(PKHD1):c.*220A>G rs751649423 0.00006
NM_138694.4(PKHD1):c.*2443A>G rs145917681 0.00006
NM_138694.4(PKHD1):c.*2716C>G rs1311498221 0.00006
NM_138694.4(PKHD1):c.*3138G>A rs894857837 0.00006
NM_138694.4(PKHD1):c.*918T>A rs544051183 0.00006
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034 0.00006
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.1960G>A (p.Glu654Lys) rs200918134 0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=) rs199768081 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=) rs775529923 0.00006
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.9665A>G (p.His3222Arg) rs777989032 0.00006
NM_139319.3(SLC17A8):c.*357A>G rs886048793 0.00006
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) rs762876998 0.00006
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) rs752140106 0.00006
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.1462-3C>T rs200384643 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.2315T>C (p.Ile772Thr) rs200553085 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_144508.5(KNL1):c.6425C>T (p.Pro2142Leu) rs202196865 0.00006
NM_144508.5(KNL1):c.6594+14G>C rs374302027 0.00006
NM_144596.4(TTC8):c.*247T>C rs886050879 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_144672.4(OTOA):c.1440G>T (p.Gln480His) rs201185187 0.00006
NM_145309.6(LRRC51):c.-162G>A rs886048626 0.00006
NM_145861.4(EDARADD):c.*1004G>A rs750918090 0.00006
NM_145861.4(EDARADD):c.*100C>T rs886046187 0.00006
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) rs757261515 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00006
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr) rs146837459 0.00006
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe) rs768224457 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu) rs529946385 0.00006
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp) rs754578419 0.00006
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869 0.00006
NM_152618.3(BBS12):c.1102C>T (p.Arg368Cys) rs372534521 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_153240.5(NPHP3):c.*784C>T rs376015619 0.00006
NM_153240.5(NPHP3):c.1240C>G (p.Gln414Glu) rs373255520 0.00006
NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val) rs745831184 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp) rs183049702 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723 0.00006
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val) rs759153335 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_153240.5(NPHP3):c.393G>C (p.Gln131His) rs757835884 0.00006
NM_153240.5(NPHP3):c.548T>C (p.Ile183Thr) rs563850993 0.00006
NM_153676.4(USH1C):c.*376A>C rs886048057 0.00006
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln) rs895318911 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00006
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881 0.00006
NM_153676.4(USH1C):c.759+10G>T rs368528034 0.00006
NM_153676.4(USH1C):c.822T>A (p.Ala274=) rs769539248 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153704.6(TMEM67):c.*1424C>A rs1024783132 0.00006
NM_153704.6(TMEM67):c.2556+4T>G rs772449181 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_153717.3(EVC):c.*1150A>G rs1195713966 0.00006
NM_153717.3(EVC):c.*1313C>T rs548196260 0.00006
NM_153717.3(EVC):c.*1554A>C rs531598994 0.00006
NM_153717.3(EVC):c.*2321C>T rs928733602 0.00006
NM_153717.3(EVC):c.*2361C>T rs570533057 0.00006
NM_153717.3(EVC):c.*3118C>G rs906071299 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_170784.3(MKKS):c.*460T>C rs886056496 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.1369G>A (p.Val457Ile) rs376038160 0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys) rs141181516 0.00006
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_173477.5(USH1G):c.*198T>C rs888150950 0.00006
NM_173477.5(USH1G):c.*256C>T rs984301455 0.00006
NM_173477.5(USH1G):c.478C>G (p.Arg160Gly) rs376527217 0.00006
NM_173477.5(USH1G):c.563G>T (p.Arg188Leu) rs201123735 0.00006
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) rs376870807 0.00006
NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) rs201297615 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) rs200373053 0.00006
NM_174878.3(CLRN1):c.*1331C>T rs763746069 0.00006
NM_174878.3(CLRN1):c.*249G>A rs528690106 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr) rs374288473 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys) rs768222931 0.00006
NM_178170.3(NEK8):c.*480G>A rs528347456 0.00006
NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser) rs368688884 0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) rs374175041 0.00006
NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) rs144859767 0.00006
NM_178170.3(NEK8):c.1539T>C (p.Pro513=) rs368315047 0.00006
NM_178170.3(NEK8):c.1992C>G (p.His664Gln) rs145275797 0.00006
NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln) rs199635350 0.00006
NM_178170.3(NEK8):c.976C>T (p.Arg326Trp) rs56286645 0.00006
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln) rs200972000 0.00006
NM_182548.4(LHFPL5):c.*1010G>A rs527915117 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly) rs201621810 0.00006
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622 0.00006
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp) rs146919170 0.00006
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu) rs375752705 0.00006
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys) rs148935596 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val) rs145639107 0.00006
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr) rs201900423 0.00006
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu) rs139490297 0.00006
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800 0.00006
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala) rs149081144 0.00006
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln) rs1267929537 0.00006
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369 0.00006
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro) rs371189077 0.00006
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val) rs143910248 0.00006
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His) rs561648669 0.00006
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile) rs557729565 0.00006
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900 0.00006
NM_182961.4(SYNE1):c.19693-15G>A rs187885923 0.00006
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys) rs781626097 0.00006
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln) rs143900928 0.00006
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile) rs371476665 0.00006
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu) rs775901718 0.00006
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro) rs770802176 0.00006
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His) rs144888773 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser) rs750010888 0.00006
NM_182961.4(SYNE1):c.336C>T (p.Thr112=) rs149008539 0.00006
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly) rs148000801 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln) rs149606474 0.00006
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly) rs752342922 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly) rs555731770 0.00006
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr) rs772266857 0.00006
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) rs557081125 0.00006
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys) rs747706541 0.00006
NM_182961.4(SYNE1):c.581+7A>G rs367617527 0.00006
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765 0.00006
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys) rs367594476 0.00006
NM_182961.4(SYNE1):c.666G>A (p.Pro222=) rs141368652 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser) rs761396972 0.00006
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser) rs763615170 0.00006
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys) rs140568392 0.00006
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn) rs77221231 0.00006
NM_182961.4(SYNE1):c.9807+6G>A rs376694958 0.00006
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val) rs373760161 0.00006
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474 0.00006
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295 0.00006
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr) rs769897141 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_201253.3(CRB1):c.1172-15T>A rs375141011 0.00006
NM_201253.3(CRB1):c.156T>C (p.Asn52=) rs143046320 0.00006
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) rs138936375 0.00006
NM_201253.3(CRB1):c.2826G>T (p.Val942=) rs781176401 0.00006
NM_201384.3(PLEC):c.10025C>T (p.Ser3342Leu) rs538702691 0.00006
NM_201384.3(PLEC):c.10033G>A (p.Gly3345Ser) rs782552483 0.00006
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.10372C>T (p.Arg3458Trp) rs571305150 0.00006
NM_201384.3(PLEC):c.10697C>T (p.Ala3566Val) rs782700068 0.00006
NM_201384.3(PLEC):c.10835G>A (p.Arg3612Gln) rs369226598 0.00006
NM_201384.3(PLEC):c.10852A>G (p.Met3618Val) rs376442504 0.00006
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys) rs782531580 0.00006
NM_201384.3(PLEC):c.1123G>A (p.Val375Met) rs199866423 0.00006
NM_201384.3(PLEC):c.11327C>T (p.Thr3776Ile) rs369998247 0.00006
NM_201384.3(PLEC):c.11477G>A (p.Arg3826His) rs782703019 0.00006
NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn) rs782028739 0.00006
NM_201384.3(PLEC):c.11641C>T (p.Arg3881Cys) rs577333649 0.00006
NM_201384.3(PLEC):c.11642G>A (p.Arg3881His) rs199504789 0.00006
NM_201384.3(PLEC):c.12017C>T (p.Ser4006Leu) rs200521669 0.00006
NM_201384.3(PLEC):c.12359C>T (p.Pro4120Leu) rs782599720 0.00006
NM_201384.3(PLEC):c.12382C>T (p.Arg4128Trp) rs375335998 0.00006
NM_201384.3(PLEC):c.13469G>A (p.Arg4490His) rs782151802 0.00006
NM_201384.3(PLEC):c.13474G>A (p.Gly4492Ser) rs781954922 0.00006
NM_201384.3(PLEC):c.13496C>T (p.Ala4499Val) rs781892954 0.00006
NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val) rs782174299 0.00006
NM_201384.3(PLEC):c.1559C>T (p.Ser520Phe) rs201605325 0.00006
NM_201384.3(PLEC):c.1634G>C (p.Gly545Ala) rs374036967 0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00006
NM_201384.3(PLEC):c.1873G>A (p.Ala625Thr) rs782673175 0.00006
NM_201384.3(PLEC):c.2079G>A (p.Val693=) rs371155701 0.00006
NM_201384.3(PLEC):c.2605G>A (p.Val869Ile) rs782050689 0.00006
NM_201384.3(PLEC):c.2924G>A (p.Gly975Asp) rs782214942 0.00006
NM_201384.3(PLEC):c.3209C>T (p.Thr1070Met) rs369199750 0.00006
NM_201384.3(PLEC):c.4312C>T (p.Arg1438Trp) rs531928668 0.00006
NM_201384.3(PLEC):c.4363C>T (p.Arg1455Cys) rs782436596 0.00006
NM_201384.3(PLEC):c.4403G>A (p.Arg1468His) rs782181237 0.00006
NM_201384.3(PLEC):c.4435C>G (p.Arg1479Gly) rs782801825 0.00006
NM_201384.3(PLEC):c.4597C>T (p.Arg1533Trp) rs781783078 0.00006
NM_201384.3(PLEC):c.4625G>A (p.Arg1542Gln) rs782773512 0.00006
NM_201384.3(PLEC):c.4643C>T (p.Ala1548Val) rs533788232 0.00006
NM_201384.3(PLEC):c.4658G>A (p.Arg1553Gln) rs782744995 0.00006
NM_201384.3(PLEC):c.4744C>T (p.Arg1582Cys) rs782517203 0.00006
NM_201384.3(PLEC):c.4927C>T (p.Arg1643Trp) rs782034297 0.00006
NM_201384.3(PLEC):c.4955C>T (p.Ala1652Val) rs781785895 0.00006
NM_201384.3(PLEC):c.5026C>T (p.Arg1676Cys) rs549098011 0.00006
NM_201384.3(PLEC):c.5092C>T (p.Arg1698Trp) rs201386659 0.00006
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp) rs774270631 0.00006
NM_201384.3(PLEC):c.5420G>A (p.Arg1807His) rs782737003 0.00006
NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln) rs577374823 0.00006
NM_201384.3(PLEC):c.5696G>A (p.Arg1899His) rs200751865 0.00006
NM_201384.3(PLEC):c.5920C>G (p.Gln1974Glu) rs782585525 0.00006
NM_201384.3(PLEC):c.5942G>A (p.Arg1981Gln) rs782635621 0.00006
NM_201384.3(PLEC):c.5944C>T (p.Arg1982Trp) rs782278361 0.00006
NM_201384.3(PLEC):c.5945G>A (p.Arg1982Gln) rs370788105 0.00006
NM_201384.3(PLEC):c.5950C>T (p.Arg1984Cys) rs376591955 0.00006
NM_201384.3(PLEC):c.6010C>T (p.Arg2004Trp) rs369813798 0.00006
NM_201384.3(PLEC):c.6067C>T (p.Arg2023Cys) rs782091586 0.00006
NM_201384.3(PLEC):c.6203C>T (p.Thr2068Met) rs781943555 0.00006
NM_201384.3(PLEC):c.6305G>A (p.Arg2102His) rs782126699 0.00006
NM_201384.3(PLEC):c.6398C>T (p.Ala2133Val) rs782011662 0.00006
NM_201384.3(PLEC):c.6455C>T (p.Ala2152Val) rs200758669 0.00006
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val) rs558775133 0.00006
NM_201384.3(PLEC):c.6701G>A (p.Arg2234His) rs369374252 0.00006
NM_201384.3(PLEC):c.6758C>T (p.Ala2253Val) rs782329522 0.00006
NM_201384.3(PLEC):c.6791G>A (p.Arg2264His) rs201661279 0.00006
NM_201384.3(PLEC):c.7034G>A (p.Arg2345Gln) rs541098488 0.00006
NM_201384.3(PLEC):c.7171G>A (p.Glu2391Lys) rs368939666 0.00006
NM_201384.3(PLEC):c.7441C>G (p.Gln2481Glu) rs782016209 0.00006
NM_201384.3(PLEC):c.7528G>A (p.Glu2510Lys) rs377605567 0.00006
NM_201384.3(PLEC):c.7633C>T (p.Arg2545Trp) rs782164998 0.00006
NM_201384.3(PLEC):c.7672C>T (p.Arg2558Trp) rs961518883 0.00006
NM_201384.3(PLEC):c.7696G>A (p.Val2566Met) rs782743395 0.00006
NM_201384.3(PLEC):c.7817G>A (p.Arg2606Gln) rs544874132 0.00006
NM_201384.3(PLEC):c.7829C>T (p.Ala2610Val) rs782085255 0.00006
NM_201384.3(PLEC):c.8120A>G (p.Asn2707Ser) rs782802158 0.00006
NM_201384.3(PLEC):c.8239C>T (p.Arg2747Trp) rs375454561 0.00006
NM_201384.3(PLEC):c.8511G>C (p.Glu2837Asp) rs369984112 0.00006
NM_201384.3(PLEC):c.8573C>T (p.Thr2858Met) rs782108020 0.00006
NM_201384.3(PLEC):c.8728G>A (p.Val2910Met) rs375607727 0.00006
NM_201384.3(PLEC):c.9085G>A (p.Val3029Ile) rs781937969 0.00006
NM_201384.3(PLEC):c.9223C>T (p.Arg3075Trp) rs376638828 0.00006
NM_201384.3(PLEC):c.9224G>A (p.Arg3075Gln) rs782713256 0.00006
NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys) rs782532815 0.00006
NM_201384.3(PLEC):c.9598C>T (p.Arg3200Trp) rs782188586 0.00006
NM_201384.3(PLEC):c.9706A>G (p.Lys3236Glu) rs576165288 0.00006
NM_201384.3(PLEC):c.9815G>A (p.Arg3272His) rs571590501 0.00006
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu) rs200407723 0.00006
NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) rs530857183 0.00006
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613 0.00006
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly) rs146014881 0.00006
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln) rs771999994 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly) rs753823008 0.00006
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr) rs145719886 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) rs370127889 0.00006
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) rs375429745 0.00006
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp) rs767137840 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) rs567937233 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile) rs199571930 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.4627+510G>A rs941646674 0.00006
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln) rs200348779 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe) rs767611127 0.00006
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu) rs373034742 0.00006
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys) rs374409616 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His) rs199885325 0.00006
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys) rs200696560 0.00006
NM_207361.6(FREM2):c.*1042G>A rs757171457 0.00006
NM_207361.6(FREM2):c.*3736G>C rs886050209 0.00006
NM_207361.6(FREM2):c.*467C>T rs753396105 0.00006
NM_207361.6(FREM2):c.-244G>T rs886050182 0.00006
NM_207361.6(FREM2):c.1369C>G (p.Leu457Val) rs141900626 0.00006
NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys) rs201457616 0.00006
NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys) rs140036522 0.00006
NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr) rs753652530 0.00006
NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) rs148965852 0.00006
NM_207361.6(FREM2):c.5060A>C (p.Glu1687Ala) rs143708269 0.00006
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) rs374178459 0.00006
NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val) rs760834204 0.00006
NM_207361.6(FREM2):c.8227G>A (p.Val2743Met) rs201978814 0.00006
NM_213599.3(ANO5):c.1214A>G (p.Gln405Arg) rs918732999 0.00006
NM_213599.3(ANO5):c.1933C>T (p.Arg645Trp) rs139303302 0.00006
NM_213599.3(ANO5):c.674C>T (p.Pro225Leu) rs757947963 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NR_003051.4(RMRP):n.107_108insT rs775287390 0.00006
NR_003051.4(RMRP):n.116G>A rs747605028 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NR_003051.4(RMRP):n.56C>T rs1032219537 0.00006
NR_183532.1(CLDN14-AS1):n.799A>G rs561126829 0.00006
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr) rs764674778 0.00005
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln) rs200945974 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000057.4(BLM):c.1121A>G (p.His374Arg) rs776225502 0.00005
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) rs587779879 0.00005
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys) rs201458487 0.00005
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser) rs373241803 0.00005
NM_000057.4(BLM):c.3229G>A (p.Val1077Met) rs779096973 0.00005
NM_000057.4(BLM):c.361A>C (p.Thr121Pro) rs774608080 0.00005
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446 0.00005
NM_000057.4(BLM):c.371A>G (p.Asn124Ser) rs770825975 0.00005
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_000067.3(CA2):c.649G>A (p.Val217Ile) rs539558180 0.00005
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys) rs370422576 0.00005
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr) rs201566716 0.00005
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro) rs755930521 0.00005
NM_000070.3(CAPN3):c.945+14C>T rs763112832 0.00005
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly) rs373174008 0.00005
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264 0.00005
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) rs773823921 0.00005
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln) rs867329357 0.00005
NM_000123.4(ERCC5):c.529-3C>T rs372122917 0.00005
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2829+11A>T rs777251839 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000208.4(INSR):c.*12G>A rs375751275 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000211.5(ITGB2):c.*148C>T rs753098490 0.00005
NM_000211.5(ITGB2):c.*170C>T rs952815585 0.00005
NM_000211.5(ITGB2):c.112G>A (p.Glu38Lys) rs374031101 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000211.5(ITGB2):c.163G>C (p.Gly55Arg) rs778653538 0.00005
NM_000211.5(ITGB2):c.194G>A (p.Arg65Gln) rs144806686 0.00005
NM_000211.5(ITGB2):c.740C>T (p.Pro247Leu) rs772666841 0.00005
NM_000211.5(ITGB2):c.763G>A (p.Val255Ile) rs200206541 0.00005
NM_000211.5(ITGB2):c.767C>T (p.Thr256Met) rs756545465 0.00005
NM_000211.5(ITGB2):c.897+14C>A rs374471192 0.00005
NM_000211.5(ITGB2):c.961G>A (p.Ala321Thr) rs377140902 0.00005
NM_000231.3(SGCG):c.101G>A (p.Arg34His) rs755404457 0.00005
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00005
NM_000231.3(SGCG):c.505+6T>C rs372684728 0.00005
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe) rs780747031 0.00005
NM_000232.5(SGCB):c.443A>G (p.Gln148Arg) rs201006370 0.00005
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn) rs374923265 0.00005
NM_000243.3(MEFV):c.*579C>A rs1026430345 0.00005
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000245.4(MET):c.1063G>A (p.Glu355Lys) rs561295443 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_000260.4(MYO7A):c.1690+4C>T rs377741637 0.00005
NM_000260.4(MYO7A):c.1690+9G>T rs371146074 0.00005
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) rs953533173 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) rs782693893 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys) rs782587841 0.00005
NM_000260.4(MYO7A):c.3750+20C>T rs577104822 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) rs374766654 0.00005
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp) rs373048784 0.00005
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180 0.00005
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe) rs373957005 0.00005
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601 0.00005
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met) rs761459069 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000271.5(NPC1):c.3812A>C (p.Glu1271Ala) rs773448915 0.00005
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821 0.00005
NM_000271.5(NPC1):c.956-10G>A rs755660832 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys) rs11554325 0.00005
NM_000286.3(PEX12):c.46G>A (p.Asp16Asn) rs979319729 0.00005
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00005
NM_000287.4(PEX6):c.1613G>A (p.Arg538His) rs559048081 0.00005
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868 0.00005
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu) rs558030547 0.00005
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys) rs148251960 0.00005
NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp) rs762858933 0.00005
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00005
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln) rs370305686 0.00005
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys) rs763672034 0.00005
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124 0.00005
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln) rs992278231 0.00005
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr) rs141881216 0.00005
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp) rs959635301 0.00005
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000318.3(PEX2):c.*705T>A rs569163196 0.00005
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys) rs565356844 0.00005
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870 0.00005
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000337.6(SGCD):c.*5884A>G rs760303963 0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.1277C>T (p.Thr426Met) rs201330304 0.00005
NM_000360.4(TH):c.19A>C (p.Thr7Pro) rs768150949 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000370.3(TTPA):c.*1716T>C rs1029598636 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=) rs749679693 0.00005
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 0.00005
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000414.4(HSD17B4):c.1000C>G (p.Pro334Ala) rs143750360 0.00005
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro) rs199659543 0.00005
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) rs760558443 0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_000441.1(SLC26A4):c.-186A>G rs555307083 0.00005
NM_000441.2(SLC26A4):c.*16G>T rs761754267 0.00005
NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) rs886061886 0.00005
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241 0.00005
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val) rs727504813 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys) rs371988432 0.00005
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr) rs143369243 0.00005
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln) rs767337582 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000492.4(CFTR):c.3521A>C (p.Lys1174Thr) rs137875514 0.00005
NM_000492.4(CFTR):c.3874-4A>G rs201381687 0.00005
NM_000506.5(F2):c.978G>A (p.Pro326=) rs142949009 0.00005
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=) rs933392379 0.00005
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys) rs570674743 0.00005
NM_000553.6(WRN):c.*468G>A rs373416825 0.00005
NM_000553.6(WRN):c.1505G>T (p.Gly502Val) rs201172985 0.00005
NM_000553.6(WRN):c.2128A>G (p.Ile710Val) rs180814740 0.00005
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00005
NM_000553.6(WRN):c.322A>C (p.Lys108Gln) rs780157148 0.00005
NM_000553.6(WRN):c.3230C>T (p.Pro1077Leu) rs751843882 0.00005
NM_000553.6(WRN):c.976G>T (p.Gly326Trp) rs1257404494 0.00005
NM_000760.4(CSF3R):c.1726G>A (p.Ala576Thr) rs373888342 0.00005
NM_000760.4(CSF3R):c.568C>T (p.Arg190Cys) rs757569036 0.00005
NM_000760.4(CSF3R):c.648A>C (p.Gln216His) rs747021516 0.00005
NM_000784.4(CYP27A1):c.1185-3C>A rs373628198 0.00005
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp) rs570721628 0.00005
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val) rs372772968 0.00005
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_001017420.3(ESCO2):c.*50T>C rs757615491 0.00005
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) rs147691840 0.00005
NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) rs370737996 0.00005
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913 0.00005
NM_001040167.2(LFNG):c.737G>A (p.Arg246His) rs374389689 0.00005
NM_001042472.3(ABHD12):c.858A>C (p.Pro286=) rs372807311 0.00005
NM_001042702.5(PJVK):c.*20G>A rs200368104 0.00005
NM_001042702.5(PJVK):c.-82C>T rs886055209 0.00005
NM_001042702.5(PJVK):c.216T>C (p.Ile72=) rs200686247 0.00005
NM_001044385.3(TMEM237):c.*3385C>T rs374762322 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) rs372354077 0.00005
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) rs374402055 0.00005
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255 0.00005
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907 0.00005
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.585G>C (p.Gln195His) rs771252024 0.00005
NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu) rs141618813 0.00005
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001083961.2(WDR62):c.1640C>T (p.Thr547Met) rs756313871 0.00005
NM_001083961.2(WDR62):c.2007C>T (p.Ser669=) rs765652491 0.00005
NM_001083961.2(WDR62):c.3302C>T (p.Thr1101Met) rs147484315 0.00005
NM_001098484.3(SLC4A4):c.*1707A>G rs369867972 0.00005
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216 0.00005
NM_001111.5(ADAR):c.1400G>A (p.Arg467His) rs192121167 0.00005
NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser) rs755535385 0.00005
NM_001111.5(ADAR):c.2611G>A (p.Ala871Thr) rs769985255 0.00005
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp) rs771098708 0.00005
NM_001127649.3(PEX26):c.*1618G>C rs1358815707 0.00005
NM_001127671.2(LIFR):c.*1968A>C rs759458908 0.00005
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) rs199637361 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val) rs750291966 0.00005
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp) rs755046419 0.00005
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) rs772240035 0.00005
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) rs138097846 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) rs759505768 0.00005
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968 0.00005
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) rs200990851 0.00005
NM_001139.3(ALOX12B):c.754+14C>G rs776236537 0.00005
NM_001145308.4(LRTOMT):c.-554G>A rs886048622 0.00005
NM_001145809.2(MYH14):c.3704C>T (p.Thr1235Met) rs200988515 0.00005
NM_001145809.2(MYH14):c.4220G>A (p.Arg1407His) rs553162373 0.00005
NM_001145809.2(MYH14):c.4510C>T (p.Leu1504=) rs765023094 0.00005
NM_001146079.2(CLDN14):c.-5G>A rs368231049 0.00005
NM_001161403.3(LIMS2):c.154G>A (p.Glu52Lys) rs374235568 0.00005
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser) rs368536679 0.00005
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys) rs201636855 0.00005
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys) rs368003558 0.00005
NM_001161403.3(LIMS2):c.793G>A (p.Glu265Lys) rs199761833 0.00005
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) rs200284291 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) rs138049574 0.00005
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) rs762758350 0.00005
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu) rs879274205 0.00005
NM_001184.4(ATR):c.241C>T (p.Leu81Phe) rs147353060 0.00005
NM_001184.4(ATR):c.3074G>A (p.Arg1025His) rs771309709 0.00005
NM_001184.4(ATR):c.6960G>A (p.Lys2320=) rs752654793 0.00005
NM_001194998.2(CEP152):c.2438T>C (p.Ile813Thr) rs188605689 0.00005
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275 0.00005
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) rs779920318 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_001254.4(CDC6):c.1133G>A (p.Arg378His) rs4135016 0.00005
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His) rs192391568 0.00005
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His) rs753658469 0.00005
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=) rs72629781 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.10204G>A (p.Glu3402Lys) rs766262957 0.00005
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys) rs886039007 0.00005
NM_001267550.2(TTN):c.102424A>C (p.Ile34142Leu) rs528796532 0.00005
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg) rs191522469 0.00005
NM_001267550.2(TTN):c.103786C>T (p.Arg34596Cys) rs372754970 0.00005
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln) rs199642423 0.00005
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His) rs756575734 0.00005
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala) rs373369136 0.00005
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) rs774004409 0.00005
NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro) rs372116188 0.00005
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) rs769369764 0.00005
NM_001267550.2(TTN):c.11362G>A (p.Glu3788Lys) rs540469851 0.00005
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu) rs779033634 0.00005
NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met) rs754231728 0.00005
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala) rs376799249 0.00005
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn) rs374299783 0.00005
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=) rs201343844 0.00005
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu) rs769165258 0.00005
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=) rs368427156 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu) rs201586695 0.00005
NM_001267550.2(TTN):c.208G>A (p.Val70Met) rs772248060 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser) rs374167223 0.00005
NM_001267550.2(TTN):c.24358C>T (p.Pro8120Ser) rs745913661 0.00005
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu) rs772596633 0.00005
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00005
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His) rs773986121 0.00005
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln) rs189431308 0.00005
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627 0.00005
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00005
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala) rs940553223 0.00005
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) rs372371333 0.00005
NM_001267550.2(TTN):c.32555-2A>C rs781581062 0.00005
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu) rs397517543 0.00005
NM_001267550.2(TTN):c.33049G>A (p.Glu11017Lys) rs753930002 0.00005
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser) rs565328082 0.00005
NM_001267550.2(TTN):c.34538-12A>G rs376626305 0.00005
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00005
NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile) rs375956503 0.00005
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) rs543338451 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp) rs752970602 0.00005
NM_001267550.2(TTN):c.42023C>T (p.Pro14008Leu) rs751709914 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile) rs528741819 0.00005
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His) rs746380621 0.00005
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=) rs376445406 0.00005
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met) rs759373140 0.00005
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln) rs752671402 0.00005
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=) rs760251812 0.00005
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) rs150364979 0.00005
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile) rs138931943 0.00005
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp) rs147695336 0.00005
NM_001267550.2(TTN):c.50269G>A (p.Ala16757Thr) rs886042536 0.00005
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) rs876658064 0.00005
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His) rs778885931 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) rs201802447 0.00005
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp) rs764950995 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) rs199787097 0.00005
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004 0.00005
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala) rs771977738 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys) rs371060708 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys) rs756303390 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe) rs779303152 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu) rs756671149 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.71058G>A (p.Ala23686=) rs375183437 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val) rs370857722 0.00005
NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr) rs183015944 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser) rs542799302 0.00005
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His) rs371910831 0.00005
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr) rs780465670 0.00005
NM_001267550.2(TTN):c.83630G>A (p.Arg27877His) rs371345921 0.00005
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp) rs377540780 0.00005
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys) rs397517726 0.00005
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg) rs545841306 0.00005
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys) rs774978209 0.00005
NM_001267550.2(TTN):c.86448C>A (p.Asn28816Lys) rs774349799 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser) rs761251825 0.00005
NM_001267550.2(TTN):c.87449T>C (p.Ile29150Thr) rs373106927 0.00005
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile) rs761591533 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn) rs376737897 0.00005
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro) rs568322187 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala) rs779339626 0.00005
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala) rs755949122 0.00005
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr) rs376202976 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu) rs965156924 0.00005
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) rs147903846 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00005
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) rs201618364 0.00005
NM_001283009.2(RTEL1):c.1135C>T (p.Arg379Cys) rs201938707 0.00005
NM_001283009.2(RTEL1):c.1191+6G>T rs760073413 0.00005
NM_001283009.2(RTEL1):c.1399C>G (p.Leu467Val) rs369714122 0.00005
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.2318C>G (p.Ala773Gly) rs746270116 0.00005
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg) rs369064972 0.00005
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val) rs370571374 0.00005
NM_001283009.2(RTEL1):c.3277G>A (p.Asp1093Asn) rs767674666 0.00005
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys) rs771457769 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001292063.2(OTOG):c.3521C>T (p.Pro1174Leu) rs775584403 0.00005
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn) rs534951317 0.00005
NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met) rs566656846 0.00005
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) rs1054781365 0.00005
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) rs563531719 0.00005
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala) rs141202824 0.00005
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp) rs144333076 0.00005
NM_001351132.2(PEX5):c.966+5G>A rs199705127 0.00005
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_001366722.1(GRIP1):c.*611T>C rs984899547 0.00005
NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg) rs771823092 0.00005
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=) rs780722176 0.00005
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys) rs387907063 0.00005
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu) rs752770883 0.00005
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu) rs530985565 0.00005
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 0.00005
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly) rs776808559 0.00005
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr) rs1023974968 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4286A>G (p.Tyr1429Cys) rs763136053 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His) rs200041852 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860 0.00005
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_001378454.1(ALMS1):c.9937C>G (p.Pro3313Ala) rs762967276 0.00005
NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=) rs199909714 0.00005
NM_001379180.1(ESRRB):c.*3220T>C rs376119931 0.00005
NM_001379180.1(ESRRB):c.577+15C>T rs765906060 0.00005
NM_001379286.1(ZNF423):c.148C>G (p.Leu50Val) rs142138944 0.00005
NM_001379286.1(ZNF423):c.2132C>T (p.Ser711Leu) rs144284315 0.00005
NM_001379286.1(ZNF423):c.2659G>A (p.Val887Met) rs139142141 0.00005
NM_001379286.1(ZNF423):c.40+33057A>C rs764916396 0.00005
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) rs201536815 0.00005
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) rs772097768 0.00005
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) rs759299114 0.00005
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) rs376210928 0.00005
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) rs559765139 0.00005
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) rs779204541 0.00005
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) rs375978348 0.00005
NM_001382391.1(CSPP1):c.2710+6G>A rs369255080 0.00005
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=) rs200170358 0.00005
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile) rs200784596 0.00005
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.3206A>G (p.Tyr1069Cys) rs775952226 0.00005
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys) rs781603185 0.00005
NM_001384140.1(PCDH15):c.4671+1523G>T rs755005336 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) rs201464944 0.00005
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) rs148696330 0.00005
NM_001393500.2(TOMT):c.177C>T (p.Pro59=) rs886048629 0.00005
NM_001543.5(NDST1):c.389G>A (p.Arg130His) rs148227466 0.00005
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) rs376581983 0.00005
NM_001692.4(ATP6V1B1):c.940C>T (p.Arg314Cys) rs147187470 0.00005
NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys) rs371250371 0.00005
NM_002180.3(IGHMBP2):c.1632+4C>T rs775832239 0.00005
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 0.00005
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) rs541833561 0.00005
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002230.4(JUP):c.*728A>C rs889216050 0.00005
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys) rs781857012 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002230.4(JUP):c.989C>A (p.Thr330Asn) rs782145797 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002241.5(KCNJ10):c.*2516C>T rs887195639 0.00005
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu) rs770637532 0.00005
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu) rs758124972 0.00005
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) rs757491995 0.00005
NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val) rs750000849 0.00005
NM_002292.4(LAMB2):c.3797+5G>A rs150213016 0.00005
NM_002292.4(LAMB2):c.386-15C>T rs117575041 0.00005
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val) rs757984116 0.00005
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met) rs371155552 0.00005
NM_002335.4(LRP5):c.2827+5G>A rs373365240 0.00005
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) rs371173423 0.00005
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu) rs148725079 0.00005
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) rs200384949 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_002473.6(MYH9):c.*1026C>G rs779365782 0.00005
NM_002473.6(MYH9):c.*539G>A rs533769148 0.00005
NM_002473.6(MYH9):c.*74G>A rs886057477 0.00005
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) rs148883810 0.00005
NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly) rs886057481 0.00005
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) rs727503286 0.00005
NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met) rs149663189 0.00005
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg) rs778881191 0.00005
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002617.4(PEX10):c.428G>A (p.Arg143His) rs766596553 0.00005
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp) rs780485807 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002617.4(PEX10):c.960C>G (p.Ile320Met) rs371260973 0.00005
NM_002618.4(PEX13):c.*170C>G rs77041272 0.00005
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp) rs774157693 0.00005
NM_002618.4(PEX13):c.661C>G (p.Leu221Val) rs192034592 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567 0.00005
NM_002855.5(NECTIN1):c.*1368G>A rs576817361 0.00005
NM_002855.5(NECTIN1):c.*521G>C rs998507978 0.00005
NM_002855.5(NECTIN1):c.431-4G>A rs375284374 0.00005
NM_002857.4(PEX19):c.*1103C>T rs561417695 0.00005
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_002906.4(RDX):c.*1284G>A rs74676538 0.00005
NM_002906.4(RDX):c.*2112A>G rs568502944 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022 0.00005
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn) rs768045623 0.00005
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) rs113347960 0.00005
NM_003383.5(VLDLR):c.921C>T (p.Ser307=) rs777240049 0.00005
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln) rs1412431442 0.00005
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln) rs754704006 0.00005
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys) rs753768799 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003701.4(TNFSF11):c.*667A>G rs12584726 0.00005
NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) rs746313384 0.00005
NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) rs201151635 0.00005
NM_003801.4(GPAA1):c.1658C>T (p.Pro553Leu) rs372282426 0.00005
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg) rs387906861 0.00005
NM_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) rs200919340 0.00005
NM_003896.4(ST3GAL5):c.11A>T (p.Lys4Met) rs1399913199 0.00005
NM_003896.4(ST3GAL5):c.7A>T (p.Thr3Ser) rs1441880596 0.00005
NM_003937.3(KYNU):c.455C>T (p.Thr152Met) rs146601376 0.00005
NM_004004.6(GJB2):c.-22-18T>A rs778602324 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004086.3(COCH):c.*358G>A rs774390888 0.00005
NM_004100.5(EYA4):c.*732A>G rs902919934 0.00005
NM_004100.5(EYA4):c.1107+13A>C rs775989680 0.00005
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile) rs202095223 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 0.00005
NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala) rs376991799 0.00005
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser) rs768983113 0.00005
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350 0.00005
NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp) rs151272832 0.00005
NM_004393.6(DAG1):c.49A>G (p.Thr17Ala) rs760423386 0.00005
NM_004415.4(DSP):c.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_004525.2(LRP2):c.-178G>A rs886055094 0.00005
NM_004525.3(LRP2):c.10681A>G (p.Ser3561Gly) rs112419538 0.00005
NM_004525.3(LRP2):c.10921C>T (p.Arg3641Trp) rs373064113 0.00005
NM_004525.3(LRP2):c.11461G>A (p.Ala3821Thr) rs778317120 0.00005
NM_004525.3(LRP2):c.12124C>T (p.Arg4042Cys) rs752766559 0.00005
NM_004525.3(LRP2):c.2113A>G (p.Ile705Val) rs140552043 0.00005
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=) rs186494101 0.00005
NM_004525.3(LRP2):c.4732C>T (p.Arg1578Cys) rs768876882 0.00005
NM_004525.3(LRP2):c.8530G>A (p.Gly2844Arg) rs533432746 0.00005
NM_004525.3(LRP2):c.9539C>T (p.Pro3180Leu) rs753134418 0.00005
NM_004560.4(ROR2):c.*433C>T rs919431237 0.00005
NM_004560.4(ROR2):c.*46C>T rs759105926 0.00005
NM_004560.4(ROR2):c.*520C>T rs367760102 0.00005
NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu) rs771461100 0.00005
NM_004565.3(PEX14):c.412G>A (p.Gly138Ser) rs376462571 0.00005
NM_004565.3(PEX14):c.517G>T (p.Val173Phe) rs200019568 0.00005
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp) rs145761201 0.00005
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp) rs535365858 0.00005
NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His) rs201025485 0.00005
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg) rs767383372 0.00005
NM_004836.6(EIF2AK3):c.-263T>C rs762232975 0.00005
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) rs150474217 0.00005
NM_004937.3(CTNS):c.*1331G>A rs555688774 0.00005
NM_004937.3(CTNS):c.*1383C>T rs886052877 0.00005
NM_004937.3(CTNS):c.*2020T>C rs543577418 0.00005
NM_004937.3(CTNS):c.*657A>G rs970677281 0.00005
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) rs201153770 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_004999.4(MYO6):c.966G>A (p.Thr322=) rs375754710 0.00005
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val) rs142582718 0.00005
NM_005219.5(DIAPH1):c.*811A>C rs891901311 0.00005
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu) rs551450387 0.00005
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly) rs187899184 0.00005
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) rs200973081 0.00005
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893 0.00005
NM_005219.5(DIAPH1):c.3148+3G>A rs374140734 0.00005
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln) rs770668053 0.00005
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556 0.00005
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val) rs752555506 0.00005
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) rs1238124123 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) rs750999717 0.00005
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg) rs200502160 0.00005
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005422.4(TECTA):c.2586C>G (p.Leu862=) rs374347076 0.00005
NM_005422.4(TECTA):c.4965C>T (p.Gly1655=) rs200769761 0.00005
NM_005422.4(TECTA):c.5877G>C (p.Leu1959=) rs148742094 0.00005
NM_005522.5(HOXA1):c.216T>C (p.His72=) rs886062260 0.00005
NM_005529.7(HSPG2):c.10981C>T (p.Arg3661Trp) rs746678863 0.00005
NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=) rs145093233 0.00005
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile) rs147810145 0.00005
NM_005529.7(HSPG2):c.4654G>A (p.Gly1552Arg) rs746057768 0.00005
NM_005529.7(HSPG2):c.5657G>A (p.Arg1886His) rs370745167 0.00005
NM_005529.7(HSPG2):c.598A>T (p.Thr200Ser) rs199604790 0.00005
NM_005529.7(HSPG2):c.7130G>A (p.Arg2377His) rs191687773 0.00005
NM_005529.7(HSPG2):c.959-7C>T rs529027225 0.00005
NM_006005.3(WFS1):c.*158G>A rs548892128 0.00005
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) rs759466443 0.00005
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) rs143597170 0.00005
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) rs753237278 0.00005
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) rs199697430 0.00005
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) rs377712049 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=) rs201800548 0.00005
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met) rs779910642 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg) rs376201635 0.00005
NM_006019.4(TCIRG1):c.903C>T (p.Ala301=) rs773632286 0.00005
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys) rs765780829 0.00005
NM_006118.4(HAX1):c.725G>A (p.Arg242Gln) rs763822514 0.00005
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp) rs780000169 0.00005
NM_006208.3(ENPP1):c.*4471C>T rs755679925 0.00005
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_006208.3(ENPP1):c.2415A>T (p.Gly805=) rs150970657 0.00005
NM_006397.3(RNASEH2A):c.*68C>T rs564029348 0.00005
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr) rs776810375 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
NM_006846.4(SPINK5):c.*90G>A rs978677310 0.00005
NM_006846.4(SPINK5):c.1553G>A (p.Arg518His) rs576310290 0.00005
NM_006846.4(SPINK5):c.2666+5G>A rs185897034 0.00005
NM_006846.4(SPINK5):c.59C>T (p.Ala20Val) rs777592836 0.00005
NM_006892.4(DNMT3B):c.1297+10T>C rs146299831 0.00005
NM_006892.4(DNMT3B):c.1330G>A (p.Val444Met) rs201465442 0.00005
NM_006892.4(DNMT3B):c.251C>A (p.Thr84Asn) rs138276579 0.00005
NM_006892.4(DNMT3B):c.389G>A (p.Arg130His) rs773207465 0.00005
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_007259.5(VPS45):c.577-5C>T rs1266646389 0.00005
NM_007259.5(VPS45):c.687G>C (p.Gln229His) rs200019200 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr) rs200326473 0.00005
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile) rs141953092 0.00005
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_012233.3(RAB3GAP1):c.*1209T>C rs962177642 0.00005
NM_012233.3(RAB3GAP1):c.*507A>G rs186189305 0.00005
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409 0.00005
NM_012448.4(STAT5B):c.1591G>A (p.Val531Met) rs142918872 0.00005
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 0.00005
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp) rs147832114 0.00005
NM_013382.7(POMT2):c.*2200G>A rs1037547422 0.00005
NM_013382.7(POMT2):c.*289G>A rs886050823 0.00005
NM_013382.7(POMT2):c.*601G>A rs150190025 0.00005
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) rs1180170796 0.00005
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) rs571330846 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_014028.4(OSTM1):c.*1634A>G rs886060964 0.00005
NM_014028.4(OSTM1):c.-67G>T rs532210400 0.00005
NM_014053.4(FLVCR1):c.*1422T>A rs138620842 0.00005
NM_014053.4(FLVCR1):c.*1549A>G rs1332609883 0.00005
NM_014053.4(FLVCR1):c.1525+13G>A rs377087497 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705 0.00005
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) rs199998045 0.00005
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014425.5(INVS):c.103G>A (p.Val35Ile) rs368173855 0.00005
NM_014425.5(INVS):c.1373C>G (p.Thr458Ser) rs745648344 0.00005
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014425.5(INVS):c.800A>G (p.His267Arg) rs747248321 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_014780.5(CUL7):c.1867C>T (p.Arg623Cys) rs147775109 0.00005
NM_014780.5(CUL7):c.4823G>A (p.Ser1608Asn) rs181823275 0.00005
NM_014780.5(CUL7):c.587G>A (p.Arg196Gln) rs761377936 0.00005
NM_014797.3(ZBTB24):c.755G>A (p.Arg252Gln) rs200055910 0.00005
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln) rs746338510 0.00005
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg) rs778958469 0.00005
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp) rs145755063 0.00005
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile) rs150451678 0.00005
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala) rs200571532 0.00005
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr) rs148477756 0.00005
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp) rs557730163 0.00005
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr) rs370793843 0.00005
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala) rs913817059 0.00005
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg) rs370039438 0.00005
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys) rs148650653 0.00005
NM_014956.5(CEP164):c.710C>A (p.Pro237His) rs567606919 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile) rs751685493 0.00005
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly) rs200634524 0.00005
NM_015102.5(NPHP4):c.2143+3G>T rs762882392 0.00005
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp) rs768582000 0.00005
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met) rs368898819 0.00005
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met) rs769851221 0.00005
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) rs768347263 0.00005
NM_015102.5(NPHP4):c.2885C>T (p.Thr962Met) rs552595155 0.00005
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys) rs771042265 0.00005
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg) rs923103631 0.00005
NM_015102.5(NPHP4):c.3686A>G (p.Tyr1229Cys) rs374390513 0.00005
NM_015102.5(NPHP4):c.3706G>A (p.Val1236Met) rs781049266 0.00005
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924 0.00005
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys) rs773309269 0.00005
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys) rs572497035 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015294.6(TRIM37):c.*925G>T rs764131923 0.00005
NM_015294.6(TRIM37):c.-365G>A rs781390565 0.00005
NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter) rs764560783 0.00005
NM_015311.3(OBSL1):c.4610-6G>A rs373972208 0.00005
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser) rs776251343 0.00005
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr) rs146889077 0.00005
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln) rs756615407 0.00005
NM_015404.4(WHRN):c.*583C>T rs567156879 0.00005
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514 0.00005
NM_015600.5(ABHD12):c.1157+2023C>T rs527626109 0.00005
NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met) rs376847458 0.00005
NM_015602.4(TOR1AIP1):c.55G>A (p.Val19Ile) rs760887402 0.00005
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser) rs200495464 0.00005
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) rs369169776 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn) rs777398021 0.00005
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) rs138003766 0.00005
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp) rs182489063 0.00005
NM_015910.7(WDPCP):c.1103G>A (p.Arg368His) rs749677469 0.00005
NM_015910.7(WDPCP):c.208+11T>C rs201607698 0.00005
NM_015910.7(WDPCP):c.2161G>A (p.Gly721Arg) rs563554007 0.00005
NM_015910.7(WDPCP):c.221G>A (p.Gly74Asp) rs368745542 0.00005
NM_016122.3(CEP83):c.1339G>A (p.Val447Ile) rs748658606 0.00005
NM_016194.4(GNB5):c.1132G>A (p.Asp378Asn) rs372011977 0.00005
NM_016219.5(MAN1B1):c.*185T>G rs137960366 0.00005
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile) rs199561708 0.00005
NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=) rs779726809 0.00005
NM_016239.4(MYO15A):c.2200G>A (p.Asp734Asn) rs1435631082 0.00005
NM_016239.4(MYO15A):c.4875+11C>T rs780276809 0.00005
NM_016239.4(MYO15A):c.530G>T (p.Gly177Val) rs772969960 0.00005
NM_016239.4(MYO15A):c.6012G>A (p.Pro2004=) rs764096773 0.00005
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) rs142465521 0.00005
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr) rs200820063 0.00005
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys) rs758121265 0.00005
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val) rs745506522 0.00005
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) rs764405866 0.00005
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) rs532989312 0.00005
NM_017433.5(MYO3A):c.3133G>A (p.Val1045Met) rs35447806 0.00005
NM_017433.5(MYO3A):c.848A>C (p.Gln283Pro) rs199541460 0.00005
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_017755.6(NSUN2):c.*48C>T rs374381984 0.00005
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln) rs756450204 0.00005
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala) rs373798103 0.00005
NM_017777.4(MKS1):c.*49C>A rs371962780 0.00005
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) rs559975316 0.00005
NM_018075.5(ANO10):c.1288C>T (p.Arg430Cys) rs200570277 0.00005
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.3804A>G (p.Arg1268=) rs142766262 0.00005
NM_018136.5(ASPM):c.3886G>C (p.Ala1296Pro) rs373469406 0.00005
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp) rs370907931 0.00005
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys) rs142865061 0.00005
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile) rs764918001 0.00005
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln) rs777169562 0.00005
NM_018249.6(CDK5RAP2):c.5241C>T (p.Leu1747=) rs753148214 0.00005
NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys) rs192296063 0.00005
NM_018699.4(PRDM5):c.1623+8T>C rs201965676 0.00005
NM_018718.3(CEP41):c.*1352G>A rs1380245671 0.00005
NM_018718.3(CEP41):c.*1538A>C rs777673385 0.00005
NM_018718.3(CEP41):c.*3193C>T rs886061989 0.00005
NM_018718.3(CEP41):c.*4769C>T rs965337048 0.00005
NM_018718.3(CEP41):c.*614A>G rs781791465 0.00005
NM_018718.3(CEP41):c.*682A>G rs782649697 0.00005
NM_018718.3(CEP41):c.*881G>A rs782801860 0.00005
NM_018965.4(TREM2):c.*148C>T rs761884997 0.00005
NM_018965.4(TREM2):c.117C>G (p.Asp39Glu) rs200392967 0.00005
NM_018965.4(TREM2):c.486C>G (p.Ser162Arg) rs371702633 0.00005
NM_018972.4(GDAP1):c.*1301A>G rs779268019 0.00005
NM_018972.4(GDAP1):c.*1416G>A rs575631045 0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) rs768693892 0.00005
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) rs567318021 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) rs147812454 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_020458.4(TTC7A):c.1849G>C (p.Glu617Gln) rs376138112 0.00005
NM_020458.4(TTC7A):c.2183A>G (p.Lys728Arg) rs143687375 0.00005
NM_020458.4(TTC7A):c.2210C>T (p.Ala737Val) rs150405237 0.00005
NM_020458.4(TTC7A):c.2274G>C (p.Lys758Asn) rs771994498 0.00005
NM_020458.4(TTC7A):c.635A>C (p.Gln212Pro) rs145134902 0.00005
NM_020458.4(TTC7A):c.863C>T (p.Ala288Val) rs747695657 0.00005
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574 0.00005
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=) rs759430357 0.00005
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn) rs542531545 0.00005
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg) rs771066341 0.00005
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633 0.00005
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His) rs909536143 0.00005
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_020632.3(ATP6V0A4):c.1908+10C>A rs368166747 0.00005
NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr) rs142860146 0.00005
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu) rs886050227 0.00005
NM_020779.4(WDR35):c.*1957C>T rs947201612 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) rs201443916 0.00005
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) rs779009587 0.00005
NM_020964.3(EPG5):c.1009G>A (p.Gly337Ser) rs1195446026 0.00005
NM_020964.3(EPG5):c.1043A>G (p.Tyr348Cys) rs761594653 0.00005
NM_020964.3(EPG5):c.1894A>G (p.Asn632Asp) rs765831533 0.00005
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00005
NM_020964.3(EPG5):c.3286C>T (p.Pro1096Ser) rs199524137 0.00005
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His) rs201545867 0.00005
NM_020964.3(EPG5):c.4861C>T (p.Arg1621Trp) rs566219944 0.00005
NM_020964.3(EPG5):c.5525C>T (p.Ala1842Val) rs367619633 0.00005
NM_020964.3(EPG5):c.5945G>A (p.Ser1982Asn) rs377447365 0.00005
NM_020964.3(EPG5):c.6044T>C (p.Phe2015Ser) rs756154171 0.00005
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly) rs764464544 0.00005
NM_020964.3(EPG5):c.6526A>G (p.Ile2176Val) rs201095962 0.00005
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile) rs535526499 0.00005
NM_021252.5(RAB18):c.*2420C>A rs770379811 0.00005
NM_021252.5(RAB18):c.*764A>G rs749045175 0.00005
NM_021252.5(RAB18):c.*906A>G rs377745201 0.00005
NM_021628.3(ALOXE3):c.1365G>A (p.Leu455=) rs757010758 0.00005
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr) rs375379302 0.00005
NM_021942.6(TRAPPC11):c.748G>A (p.Ala250Thr) rs368397954 0.00005
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) rs145671483 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) rs142699829 0.00005
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) rs139909551 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met) rs367693423 0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr) rs141816878 0.00005
NM_022095.4(ZNF335):c.857G>A (p.Arg286Gln) rs559354455 0.00005
NM_022098.4(XPNPEP3):c.*3194G>A rs1013043091 0.00005
NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys) rs761750025 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn) rs761428295 0.00005
NM_022124.6(CDH23):c.1618G>A (p.Gly540Ser) rs371116044 0.00005
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952 0.00005
NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn) rs372807578 0.00005
NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr) rs200196800 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met) rs756165682 0.00005
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) rs753822806 0.00005
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622 0.00005
NM_022124.6(CDH23):c.4854G>A (p.Thr1618=) rs376538879 0.00005
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589 0.00005
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser) rs373164088 0.00005
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=) rs370965108 0.00005
NM_022124.6(CDH23):c.7114G>A (p.Val2372Met) rs550770402 0.00005
NM_022124.6(CDH23):c.7613A>G (p.Glu2538Gly) rs371064571 0.00005
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His) rs768688999 0.00005
NM_022124.6(CDH23):c.8065-5C>A rs561693723 0.00005
NM_022124.6(CDH23):c.9170G>A (p.Arg3057Gln) rs372141384 0.00005
NM_022124.6(CDH23):c.968G>A (p.Arg323His) rs181449189 0.00005
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) rs148540097 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_022168.4(IFIH1):c.283A>G (p.Met95Val) rs777534095 0.00005
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr) rs556354713 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) rs375326964 0.00005
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780 0.00005
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu) rs190327832 0.00005
NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) rs145820898 0.00005
NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser) rs376658910 0.00005
NM_024649.5(BBS1):c.551C>T (p.Ala184Val) rs372673129 0.00005
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) rs951217740 0.00005
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) rs1037134217 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024753.5(TTC21B):c.*246G>A rs759810831 0.00005
NM_024753.5(TTC21B):c.-44G>A rs1047095367 0.00005
NM_024753.5(TTC21B):c.1427G>A (p.Arg476His) rs767963660 0.00005
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.2224A>G (p.Ile742Val) rs147222434 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.250A>G (p.Ser84Gly) rs763267081 0.00005
NM_024753.5(TTC21B):c.2550G>A (p.Ala850=) rs144151561 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) rs772941624 0.00005
NM_025074.7(FRAS1):c.1256-12C>T rs370606261 0.00005
NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu) rs778174997 0.00005
NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=) rs886059635 0.00005
NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys) rs773283272 0.00005
NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=) rs372900422 0.00005
NM_025074.7(FRAS1):c.8605-7C>T rs765550592 0.00005
NM_025074.7(FRAS1):c.885C>T (p.Asp295=) rs562224966 0.00005
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) rs779931297 0.00005
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr) rs145189350 0.00005
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys) rs373414042 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu) rs1459653241 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553 0.00005
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr) rs376033047 0.00005
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3140C>T (p.Pro1047Leu) rs1244203665 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His) rs372719724 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp) rs200487809 0.00005
NM_025216.3(WNT10A):c.551G>A (p.Arg184His) rs372756514 0.00005
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_031471.6(FERMT3):c.1030-3T>C rs772852769 0.00005
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) rs374091426 0.00005
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) rs765368032 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_031885.5(BBS2):c.970A>T (p.Met324Leu) rs778551017 0.00005
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp) rs532839486 0.00005
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val) rs765672841 0.00005
NM_032119.4(ADGRV1):c.16308C>T (p.Thr5436=) rs137853917 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys) rs956307189 0.00005
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) rs377173958 0.00005
NM_032119.4(ADGRV1):c.18228C>T (p.Phe6076=) rs562067191 0.00005
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu) rs200730114 0.00005
NM_032119.4(ADGRV1):c.3996A>G (p.Gly1332=) rs763406021 0.00005
NM_032119.4(ADGRV1):c.5522G>A (p.Arg1841His) rs757053598 0.00005
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730 0.00005
NM_032119.4(ADGRV1):c.7527A>G (p.Gln2509=) rs772103054 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_032193.4(RNASEH2C):c.*1532G>A rs376966597 0.00005
NM_032193.4(RNASEH2C):c.*541C>T rs756513194 0.00005
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_032237.5(POMK):c.968C>T (p.Thr323Ile) rs1029874324 0.00005
NM_032575.3(GLIS2):c.*1082G>A rs886051999 0.00005
NM_032575.3(GLIS2):c.*551C>G rs886051992 0.00005
NM_032575.3(GLIS2):c.*712C>G rs886051995 0.00005
NM_032575.3(GLIS2):c.*902C>T rs971389433 0.00005
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_033028.5(BBS4):c.*885T>C rs753912948 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe) rs747584616 0.00005
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe) rs140047846 0.00005
NM_033064.5(ATCAY):c.*1801T>C rs537102677 0.00005
NM_033064.5(ATCAY):c.*2265G>A rs886054423 0.00005
NM_033064.5(ATCAY):c.*2996G>A rs886054427 0.00005
NM_033064.5(ATCAY):c.*958G>A rs901656902 0.00005
NM_033064.5(ATCAY):c.370G>A (p.Val124Met) rs147684273 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln) rs201496629 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.54C>T (p.Ile18=) rs139138308 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr) rs144967245 0.00005
NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp) rs201308378 0.00005
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 0.00005
NM_138387.4(G6PC3):c.-231A>G rs886052983 0.00005
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_138691.3(TMC1):c.-481T>C rs757908231 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser) rs374566843 0.00005
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158 0.00005
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.5963T>C (p.Ile1988Thr) rs770492164 0.00005
NM_138694.4(PKHD1):c.607C>T (p.Pro203Ser) rs777994980 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) rs776068047 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) rs140410496 0.00005
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) rs745758782 0.00005
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) rs147655157 0.00005
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_144508.5(KNL1):c.21G>A (p.Glu7=) rs199912732 0.00005
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser) rs150551872 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) rs137937891 0.00005
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys) rs754858756 0.00005
NM_152443.3(RDH12):c.313A>G (p.Ile105Val) rs371493398 0.00005
NM_152443.3(RDH12):c.590G>T (p.Gly197Val) rs867284235 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_152618.3(BBS12):c.1858C>G (p.Gln620Glu) rs776100718 0.00005
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro) rs867826443 0.00005
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser) rs756330976 0.00005
NM_153676.4(USH1C):c.2310C>T (p.Gly770=) rs375492038 0.00005
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg) rs199729381 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153717.3(EVC):c.*1766C>T rs1012765159 0.00005
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln) rs775052481 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_153816.6(SNX14):c.140+9G>A rs751616334 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val) rs778950712 0.00005
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu) rs139509933 0.00005
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) rs370230003 0.00005
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) rs748439897 0.00005
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) rs3796241 0.00005
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe) rs144691725 0.00005
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp) rs533535422 0.00005
NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) rs773883764 0.00005
NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln) rs148904248 0.00005
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp) rs145117891 0.00005
NM_182961.4(SYNE1):c.10443+5G>A rs557835636 0.00005
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile) rs760680769 0.00005
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr) rs141719907 0.00005
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133 0.00005
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr) rs775930653 0.00005
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr) rs368653411 0.00005
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile) rs1273141730 0.00005
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser) rs773901491 0.00005
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg) rs144714939 0.00005
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu) rs769058871 0.00005
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166 0.00005
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys) rs200360218 0.00005
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg) rs572189966 0.00005
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp) rs368534747 0.00005
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met) rs184210675 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His) rs760706012 0.00005
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787 0.00005
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn) rs779301586 0.00005
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521 0.00005
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139 0.00005
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met) rs374866393 0.00005
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn) rs146280967 0.00005
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258 0.00005
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys) rs772622270 0.00005
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys) rs139885317 0.00005
NM_182961.4(SYNE1):c.24783C>T (p.Leu8261=) rs771221504 0.00005
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn) rs748216902 0.00005
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg) rs759004104 0.00005
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met) rs139560053 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly) rs539464964 0.00005
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys) rs754120599 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061 0.00005
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val) rs528549317 0.00005
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys) rs181218387 0.00005
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr) rs756079906 0.00005
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957 0.00005
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565 0.00005
NM_198428.3(BBS9):c.-447A>C rs886062278 0.00005
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.663G>T (p.Glu221Asp) rs767766656 0.00005
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met) rs372660203 0.00005
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) rs938864433 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_201384.3(PLEC):c.10049T>C (p.Leu3350Pro) rs186417404 0.00005
NM_201384.3(PLEC):c.10072G>A (p.Ala3358Thr) rs533543775 0.00005
NM_201384.3(PLEC):c.10090G>A (p.Asp3364Asn) rs781975742 0.00005
NM_201384.3(PLEC):c.10231G>A (p.Glu3411Lys) rs891504762 0.00005
NM_201384.3(PLEC):c.10297G>A (p.Val3433Ile) rs782026330 0.00005
NM_201384.3(PLEC):c.10522G>A (p.Asp3508Asn) rs782757717 0.00005
NM_201384.3(PLEC):c.10615C>T (p.Arg3539Cys) rs201438739 0.00005
NM_201384.3(PLEC):c.11161C>T (p.Arg3721Cys) rs782134827 0.00005
NM_201384.3(PLEC):c.11215G>C (p.Gly3739Arg) rs547128082 0.00005
NM_201384.3(PLEC):c.11438G>A (p.Arg3813His) rs782311906 0.00005
NM_201384.3(PLEC):c.11554G>A (p.Asp3852Asn) rs879965060 0.00005
NM_201384.3(PLEC):c.11752A>G (p.Ile3918Val) rs574764116 0.00005
NM_201384.3(PLEC):c.11755G>A (p.Glu3919Lys) rs782385807 0.00005
NM_201384.3(PLEC):c.11843C>T (p.Ser3948Leu) rs78999991 0.00005
NM_201384.3(PLEC):c.12377G>A (p.Arg4126Gln) rs192468687 0.00005
NM_201384.3(PLEC):c.12562G>A (p.Gly4188Ser) rs782165865 0.00005
NM_201384.3(PLEC):c.12700G>A (p.Asp4234Asn) rs782628125 0.00005
NM_201384.3(PLEC):c.13264G>A (p.Ala4422Thr) rs782099999 0.00005
NM_201384.3(PLEC):c.1658C>T (p.Ala553Val) rs745403009 0.00005
NM_201384.3(PLEC):c.2676C>G (p.Ser892Arg) rs782309376 0.00005
NM_201384.3(PLEC):c.3016C>T (p.Arg1006Cys) rs200484638 0.00005
NM_201384.3(PLEC):c.4187G>A (p.Arg1396His) rs148159359 0.00005
NM_201384.3(PLEC):c.4211G>A (p.Arg1404Gln) rs372768552 0.00005
NM_201384.3(PLEC):c.4232C>T (p.Ala1411Val) rs781828866 0.00005
NM_201384.3(PLEC):c.4352A>G (p.Glu1451Gly) rs782276999 0.00005
NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp) rs567331060 0.00005
NM_201384.3(PLEC):c.5050G>A (p.Val1684Ile) rs760585494 0.00005
NM_201384.3(PLEC):c.5593C>T (p.Arg1865Cys) rs372018272 0.00005
NM_201384.3(PLEC):c.5933A>C (p.Glu1978Ala) rs782017511 0.00005
NM_201384.3(PLEC):c.5951G>A (p.Arg1984His) rs575072418 0.00005
NM_201384.3(PLEC):c.6322C>T (p.Arg2108Trp) rs782205128 0.00005
NM_201384.3(PLEC):c.6443G>A (p.Arg2148Gln) rs199821611 0.00005
NM_201384.3(PLEC):c.6668G>A (p.Arg2223His) rs565225660 0.00005
NM_201384.3(PLEC):c.6695C>T (p.Ser2232Leu) rs201367741 0.00005
NM_201384.3(PLEC):c.6869C>T (p.Ala2290Val) rs782118220 0.00005
NM_201384.3(PLEC):c.7607G>A (p.Arg2536Gln) rs375376175 0.00005
NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp) rs781882121 0.00005
NM_201384.3(PLEC):c.8240G>A (p.Arg2747Gln) rs199856296 0.00005
NM_201384.3(PLEC):c.8396G>A (p.Arg2799Gln) rs202133859 0.00005
NM_201384.3(PLEC):c.839G>A (p.Arg280His) rs782124459 0.00005
NM_201384.3(PLEC):c.8470G>A (p.Val2824Met) rs201160327 0.00005
NM_201384.3(PLEC):c.8614G>A (p.Val2872Met) rs201448049 0.00005
NM_201384.3(PLEC):c.8630C>T (p.Thr2877Met) rs201565643 0.00005
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His) rs369581930 0.00005
NM_201384.3(PLEC):c.9424G>A (p.Gly3142Ser) rs373523333 0.00005
NM_201384.3(PLEC):c.9643A>G (p.Lys3215Glu) rs782078326 0.00005
NM_201384.3(PLEC):c.9724C>T (p.Pro3242Ser) rs782376110 0.00005
NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr) rs886054432 0.00005
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu) rs1038876830 0.00005
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139 0.00005
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp) rs749942414 0.00005
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=) rs370364142 0.00005
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His) rs768977235 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) rs145383772 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.4627+10T>C rs148657311 0.00005
NM_206933.4(USH2A):c.4627+610G>A rs886045947 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) rs777618162 0.00005
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534 0.00005
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln) rs954532372 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.9201T>C (p.Asn3067=) rs764236480 0.00005
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) rs147267500 0.00005
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr) rs150266899 0.00005
NM_207361.6(FREM2):c.2093G>A (p.Arg698His) rs201217034 0.00005
NM_207361.6(FREM2):c.319G>A (p.Val107Ile) rs763373816 0.00005
NM_207361.6(FREM2):c.8281+10G>A rs374250366 0.00005
NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala) rs186980482 0.00005
NM_213599.3(ANO5):c.2611A>C (p.Met871Leu) rs189233047 0.00005
NM_213599.3(ANO5):c.533G>C (p.Ser178Thr) rs146725859 0.00005
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.139C>T rs928825069 0.00005
NR_003051.4(RMRP):n.229C>T rs560328768 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NR_003051.4(RMRP):n.37C>A rs549085067 0.00005
NM_000019.3(ACAT1):c.*464A>G rs886047602 0.00004
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00004
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys) rs538696245 0.00004
NM_000023.4(SGCA):c.467G>A (p.Arg156His) rs558473298 0.00004
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp) rs199791980 0.00004
NM_000023.4(SGCA):c.869C>T (p.Ala290Val) rs373312721 0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688 0.00004
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn) rs368967327 0.00004
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys) rs752494229 0.00004
NM_000057.4(BLM):c.226C>A (p.Pro76Thr) rs768843912 0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605 0.00004
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg) rs755784410 0.00004
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg) rs370073229 0.00004
NM_000057.4(BLM):c.3210+2dup rs755232267 0.00004
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu) rs373003917 0.00004
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala) rs891751726 0.00004
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr) rs587778104 0.00004
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557 0.00004
NM_000057.4(BLM):c.457G>C (p.Asp153His) rs368158276 0.00004
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) rs200897029 0.00004
NM_000057.4(BLM):c.724C>T (p.Pro242Ser) rs768513523 0.00004
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003 0.00004
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala) rs199625801 0.00004
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg) rs764593698 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala) rs146845466 0.00004
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln) rs1049698745 0.00004
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904 0.00004
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg) rs1355979542 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.2184+3G>A rs771917810 0.00004
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile) rs755736723 0.00004
NM_000070.3(CAPN3):c.349A>C (p.Asn117His) rs1011699008 0.00004
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys) rs138914944 0.00004
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn) rs561366032 0.00004
NM_000083.3(CLCN1):c.1085G>C (p.Gly362Ala) rs758597490 0.00004
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln) rs754440141 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser) rs780173260 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00004
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val) rs145280046 0.00004
NM_000083.3(CLCN1):c.616T>C (p.Tyr206His) rs963470037 0.00004
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700 0.00004
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810 0.00004
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025 0.00004
NM_000092.5(COL4A4):c.4837G>A (p.Gly1613Arg) rs377233046 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_000123.4(ERCC5):c.-146A>G rs552781571 0.00004
NM_000123.4(ERCC5):c.1954+5G>A rs112412083 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val) rs368550097 0.00004
NM_000124.4(ERCC6):c.-107A>G rs886047042 0.00004
NM_000124.4(ERCC6):c.-65G>A rs1318032118 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729 0.00004
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886 0.00004
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972 0.00004
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg) rs114403790 0.00004
NM_000144.5(FXN):c.146C>A (p.Thr49Asn) rs995690945 0.00004
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000163.5(GHR):c.*1892T>A rs886060649 0.00004
NM_000163.5(GHR):c.-176A>G rs1314535276 0.00004
NM_000163.5(GHR):c.660G>T (p.Leu220Phe) rs200851410 0.00004
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000165.5(GJA1):c.868A>G (p.Thr290Ala) rs562513101 0.00004
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met) rs377650196 0.00004
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala) rs375468242 0.00004
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr) rs147586061 0.00004
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln) rs144151076 0.00004
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln) rs747173302 0.00004
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr) rs761828482 0.00004
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln) rs369222553 0.00004
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val) rs577880164 0.00004
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His) rs141352623 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr) rs1009898777 0.00004
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln) rs369527655 0.00004
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser) rs917296356 0.00004
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met) rs780014587 0.00004
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln) rs755150485 0.00004
NM_000208.4(INSR):c.*1001A>G rs766637171 0.00004
NM_000208.4(INSR):c.*1045C>T rs756351376 0.00004
NM_000208.4(INSR):c.*241G>A rs369919269 0.00004
NM_000208.4(INSR):c.*2475A>G rs1401575339 0.00004
NM_000208.4(INSR):c.-62C>T rs532052290 0.00004
NM_000208.4(INSR):c.1084G>A (p.Val362Ile) rs72549237 0.00004
NM_000211.4(ITGB2):c.-104C>T rs754249152 0.00004
NM_000211.5(ITGB2):c.1343G>A (p.Arg448Gln) rs149279736 0.00004
NM_000211.5(ITGB2):c.1885G>A (p.Ala629Thr) rs200894474 0.00004
NM_000211.5(ITGB2):c.1937C>T (p.Ala646Val) rs201413647 0.00004
NM_000211.5(ITGB2):c.2107G>A (p.Ala703Thr) rs1045859276 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000211.5(ITGB2):c.359G>A (p.Arg120Gln) rs371519127 0.00004
NM_000211.5(ITGB2):c.493C>T (p.Arg165Cys) rs759935924 0.00004
NM_000211.5(ITGB2):c.500-3C>T rs376484884 0.00004
NM_000211.5(ITGB2):c.57C>T (p.Cys19=) rs533892661 0.00004
NM_000211.5(ITGB2):c.796G>A (p.Gly266Ser) rs764894987 0.00004
NM_000211.5(ITGB2):c.808G>A (p.Ala270Thr) rs148775158 0.00004
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe) rs368524463 0.00004
NM_000231.3(SGCG):c.371G>T (p.Gly124Val) rs183204936 0.00004
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser) rs374836520 0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val) rs372188878 0.00004
NM_000231.3(SGCG):c.784T>C (p.Tyr262His) rs776357413 0.00004
NM_000231.3(SGCG):c.808G>A (p.Gly270Arg) rs767191084 0.00004
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu) rs148525453 0.00004
NM_000232.5(SGCB):c.715A>G (p.Ile239Val) rs868151547 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_000243.3(MEFV):c.*695C>G rs1596349291 0.00004
NM_000243.3(MEFV):c.*761del rs886051967 0.00004
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1130G>A (p.Arg377His) rs144998416 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) rs375716505 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) rs748891586 0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) rs202174893 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) rs151306047 0.00004
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln) rs759918824 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.941G>A (p.Arg314His) rs104895204 0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00004
NM_000253.4(MTTP):c.-153C>G rs886058954 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.2326G>A (p.Val776Met) rs542575330 0.00004
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) rs201015844 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.356T>C (p.Met119Thr) rs151161326 0.00004
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) rs546918671 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141 0.00004
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1797+13C>T rs782461418 0.00004
NM_000260.4(MYO7A):c.1852C>G (p.Leu618Val) rs1450279958 0.00004
NM_000260.4(MYO7A):c.19-3T>C rs572658145 0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893 0.00004
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln) rs782719957 0.00004
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=) rs782329400 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln) rs782498923 0.00004
NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys) rs782403609 0.00004
NM_000260.4(MYO7A):c.3375+12C>T rs781935881 0.00004
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) rs886048671 0.00004
NM_000260.4(MYO7A):c.3750+8C>T rs930330204 0.00004
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=) rs750763506 0.00004
NM_000260.4(MYO7A):c.3865G>A (p.Asp1289Asn) rs371221562 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.4019C>T (p.Ala1340Val) rs370330847 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val) rs761363022 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.495G>A (p.Thr165=) rs532833627 0.00004
NM_000260.4(MYO7A):c.5080G>A (p.Val1694Ile) rs113966094 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=) rs374162462 0.00004
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) rs757896867 0.00004
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=) rs372062718 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000260.4(MYO7A):c.54G>C (p.Gln18His) rs371849195 0.00004
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) rs375627342 0.00004
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=) rs747516555 0.00004
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) rs773907543 0.00004
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp) rs780940577 0.00004
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn) rs782546306 0.00004
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys) rs781592754 0.00004
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu) rs374575441 0.00004
NM_000271.5(NPC1):c.1010G>A (p.Arg337Gln) rs373390781 0.00004
NM_000271.5(NPC1):c.1085C>A (p.Thr362Asn) rs761903316 0.00004
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000271.5(NPC1):c.1581T>A (p.Ser527Arg) rs769935106 0.00004
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys) rs750033860 0.00004
NM_000271.5(NPC1):c.1947+12G>T rs886053666 0.00004
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023 0.00004
NM_000271.5(NPC1):c.2275A>G (p.Thr759Ala) rs776873102 0.00004
NM_000271.5(NPC1):c.2456G>A (p.Arg819His) rs751952669 0.00004
NM_000271.5(NPC1):c.2514+15G>A rs765825660 0.00004
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000271.5(NPC1):c.2911+4C>T rs186588103 0.00004
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153 0.00004
NM_000271.5(NPC1):c.3506G>T (p.Ser1169Ile) rs139612110 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly) rs201956601 0.00004
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918 0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206 0.00004
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe) rs951540129 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 0.00004
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp) rs564505637 0.00004
NM_000286.3(PEX12):c.*708G>A rs762099095 0.00004
NM_000286.3(PEX12):c.*922T>C rs886052823 0.00004
NM_000286.3(PEX12):c.661A>G (p.Met221Val) rs764839291 0.00004
NM_000287.3(PEX6):c.-39G>A rs76974379 0.00004
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys) rs762734034 0.00004
NM_000287.4(PEX6):c.187G>A (p.Gly63Ser) rs958375823 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 0.00004
NM_000287.4(PEX6):c.2642G>A (p.Arg881His) rs751377690 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00004
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln) rs374426032 0.00004
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu) rs757254854 0.00004
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737 0.00004
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028 0.00004
NM_000287.4(PEX6):c.680A>G (p.Gln227Arg) rs757479364 0.00004
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252 0.00004
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.65C>T (p.Ala22Val) rs1052621653 0.00004
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu) rs1003031615 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe) rs760967879 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_000302.3(PLOD1):c.-64C>G rs886045195 0.00004
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp) rs745946511 0.00004
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met) rs770120389 0.00004
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937 0.00004
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val) rs777096767 0.00004
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000302.4(PLOD1):c.975C>T (p.His325=) rs761576315 0.00004
NM_000317.3(PTS):c.*16T>C rs760097954 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000318.2(PEX2):c.-367A>G rs886063144 0.00004
NM_000318.3(PEX2):c.*1331T>C rs950900674 0.00004
NM_000318.3(PEX2):c.*1602A>G rs557330187 0.00004
NM_000318.3(PEX2):c.*1808C>A rs980881594 0.00004
NM_000318.3(PEX2):c.*2294C>G rs763651452 0.00004
NM_000318.3(PEX2):c.*394T>C rs1010520129 0.00004
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115 0.00004
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 0.00004
NM_000318.3(PEX2):c.404T>C (p.Val135Ala) rs549932565 0.00004
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys) rs747222660 0.00004
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) rs746008519 0.00004
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys) rs767223209 0.00004
NM_000329.3(RPE65):c.*517G>A rs574708413 0.00004
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe) rs371586530 0.00004
NM_000329.3(RPE65):c.1129-5C>T rs368533067 0.00004
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161 0.00004
NM_000329.3(RPE65):c.1449T>C (p.Asp483=) rs201116540 0.00004
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291 0.00004
NM_000329.3(RPE65):c.268G>A (p.Val90Ile) rs370076628 0.00004
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser) rs891340302 0.00004
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000329.3(RPE65):c.637C>A (p.Gln213Lys) rs777966849 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512 0.00004
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
NM_000334.4(SCN4A):c.-74G>A rs546675124 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn) rs376680315 0.00004
NM_000337.6(SGCD):c.*7566C>T rs913397406 0.00004
NM_000337.6(SGCD):c.*906C>T rs886060292 0.00004
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser) rs1437006739 0.00004
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser) rs764237334 0.00004
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) rs763794263 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.758A>T (p.Glu253Val) rs369397659 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000360.4(TH):c.90+7G>T rs746965239 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.931A>G (p.Thr311Ala) rs1016513333 0.00004
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.978-3C>A rs754735292 0.00004
NM_000370.3(TTPA):c.*1486C>T rs535310725 0.00004
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly) rs751549880 0.00004
NM_000370.3(TTPA):c.616G>A (p.Val206Ile) rs554118281 0.00004
NM_000382.3(ALDH3A2):c.1144G>A (p.Gly382Ser) rs565908396 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.1767+4T>C rs747282423 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser) rs372914814 0.00004
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) rs201632009 0.00004
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) rs794727815 0.00004
NM_000441.2(SLC26A4):c.*1735C>T rs1003068818 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg) rs372072732 0.00004
NM_000441.2(SLC26A4):c.2151A>C (p.Thr717=) rs138361211 0.00004
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536 0.00004
NM_000466.3(PEX1):c.*133G>C rs886062500 0.00004
NM_000466.3(PEX1):c.*234T>C rs1004289500 0.00004
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp) rs138008298 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000466.3(PEX1):c.2719-3T>C rs1034823292 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00004
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) rs754893068 0.00004
NM_000492.4(CFTR):c.104C>T (p.Ser35Leu) rs1372627069 0.00004
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.1585-2061G>C rs187146610 0.00004
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe) rs772223589 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.1807G>A (p.Val603Ile) rs143036685 0.00004
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu) rs397508332 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) rs369040061 0.00004
NM_000492.4(CFTR):c.2490+14G>T rs573016418 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.26C>T (p.Ala9Val) rs949472192 0.00004
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.355A>G (p.Ile119Val) rs193922518 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.3964-28G>A rs397508651 0.00004
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe) rs770345073 0.00004
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) rs397508721 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000506.5(F2):c.285G>A (p.Thr95=) rs147892497 0.00004
NM_000506.5(F2):c.814G>A (p.Val272Met) rs199558597 0.00004
NM_000506.5(F2):c.992C>T (p.Ser331Leu) rs200812621 0.00004
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000525.4(KCNJ11):c.-6G>A rs554874150 0.00004
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000553.5(WRN):c.-437C>T rs886062876 0.00004
NM_000553.6(WRN):c.1172G>T (p.Cys391Phe) rs145445994 0.00004
NM_000553.6(WRN):c.1388A>G (p.Tyr463Cys) rs1339450958 0.00004
NM_000553.6(WRN):c.1424T>C (p.Met475Thr) rs140666473 0.00004
NM_000553.6(WRN):c.1519G>A (p.Glu507Lys) rs1408863821 0.00004
NM_000553.6(WRN):c.1652+5G>C rs377547394 0.00004
NM_000553.6(WRN):c.1753C>T (p.Pro585Ser) rs554671327 0.00004
NM_000553.6(WRN):c.1806G>C (p.Met602Ile) rs201586173 0.00004
NM_000553.6(WRN):c.1958T>C (p.Leu653Pro) rs781109286 0.00004
NM_000553.6(WRN):c.197C>T (p.Ser66Leu) rs756575284 0.00004
NM_000553.6(WRN):c.2108C>G (p.Thr703Ser) rs201384942 0.00004
NM_000553.6(WRN):c.2165A>G (p.Asn722Ser) rs186693124 0.00004
NM_000553.6(WRN):c.2222G>A (p.Arg741Gln) rs766561388 0.00004
NM_000553.6(WRN):c.2225A>C (p.Lys742Thr) rs374156628 0.00004
NM_000553.6(WRN):c.2263G>A (p.Val755Ile) rs769448856 0.00004
NM_000553.6(WRN):c.2300C>G (p.Thr767Arg) rs201282577 0.00004
NM_000553.6(WRN):c.2411A>G (p.Lys804Arg) rs145698720 0.00004
NM_000553.6(WRN):c.2501G>A (p.Arg834His) rs201442356 0.00004
NM_000553.6(WRN):c.2651G>A (p.Arg884His) rs771294955 0.00004
NM_000553.6(WRN):c.2716A>G (p.Ser906Gly) rs751795043 0.00004
NM_000553.6(WRN):c.2822C>A (p.Ser941Tyr) rs746183898 0.00004
NM_000553.6(WRN):c.3284C>T (p.Pro1095Leu) rs746470648 0.00004
NM_000553.6(WRN):c.3328T>C (p.Tyr1110His) rs368115321 0.00004
NM_000553.6(WRN):c.3437C>T (p.Ser1146Leu) rs779264260 0.00004
NM_000553.6(WRN):c.3455C>A (p.Thr1152Asn) rs200240557 0.00004
NM_000553.6(WRN):c.3500A>G (p.His1167Arg) rs149071983 0.00004
NM_000553.6(WRN):c.3704G>A (p.Ser1235Asn) rs777064429 0.00004
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val) rs146861737 0.00004
NM_000553.6(WRN):c.4184A>G (p.Asn1395Ser) rs755118429 0.00004
NM_000553.6(WRN):c.485C>T (p.Thr162Ile) rs147661728 0.00004
NM_000553.6(WRN):c.674G>A (p.Arg225Gln) rs62506077 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760 0.00004
NM_000760.4(CSF3R):c.1427C>G (p.Thr476Ser) rs374610386 0.00004
NM_000760.4(CSF3R):c.146A>G (p.Lys49Arg) rs766274573 0.00004
NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr) rs756719784 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val) rs199991273 0.00004
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu) rs552660376 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys) rs553534590 0.00004
NM_001013693.3(LDLRAD2):c.*762G>T rs575761790 0.00004
NM_001017420.3(ESCO2):c.*534C>T rs886062871 0.00004
NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile) rs199665460 0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys) rs371844518 0.00004
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) rs773223673 0.00004
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) rs750396752 0.00004
NM_001023570.4(IQCB1):c.1278+3G>A rs760377282 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) rs149207095 0.00004
NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr) rs766439338 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) rs368772723 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser) rs202188305 0.00004
NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr) rs556047320 0.00004
NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala) rs141046438 0.00004
NM_001040167.2(LFNG):c.1124G>A (p.Arg375His) rs770669804 0.00004
NM_001040167.2(LFNG):c.661C>T (p.Arg221Trp) rs377387325 0.00004
NM_001042472.3(ABHD12):c.315C>T (p.Phe105=) rs151069701 0.00004
NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe) rs376230028 0.00004
NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=) rs1213927843 0.00004
NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=) rs554968375 0.00004
NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=) rs768587659 0.00004
NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu) rs369221693 0.00004
NM_001042702.5(PJVK):c.-64C>T rs886055210 0.00004
NM_001042702.5(PJVK):c.297C>T (p.Asp99=) rs375853744 0.00004
NM_001044385.3(TMEM237):c.*1108A>G rs758086204 0.00004
NM_001044385.3(TMEM237):c.*2964T>A rs955949981 0.00004
NM_001044385.3(TMEM237):c.*74T>C rs190276722 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp) rs370790275 0.00004
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) rs755252433 0.00004
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met) rs374042611 0.00004
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro) rs200892635 0.00004
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val) rs374399278 0.00004
NM_001048166.1(STIL):c.*885C>T rs762273630 0.00004
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu) rs201448287 0.00004
NM_001048166.1(STIL):c.3061C>T (p.His1021Tyr) rs199558457 0.00004
NM_001048166.1(STIL):c.3839G>A (p.Arg1280His) rs372680224 0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00004
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr) rs587778534 0.00004
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His) rs146044717 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001077365.2(POMT1):c.*68C>T rs773474667 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=) rs142211950 0.00004
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614 0.00004
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645 0.00004
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn) rs145635821 0.00004
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001077418.3(TMEM231):c.140-33C>T rs901311435 0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098 0.00004
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln) rs756494100 0.00004
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr) rs770469234 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His) rs753292136 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001080476.3(GRXCR1):c.284G>C (p.Arg95Thr) rs775363257 0.00004
NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile) rs760182093 0.00004
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001083961.2(WDR62):c.*57G>A rs745633558 0.00004
NM_001083961.2(WDR62):c.1064C>T (p.Ala355Val) rs764859949 0.00004
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=) rs79238222 0.00004
NM_001083961.2(WDR62):c.2227C>T (p.His743Tyr) rs142313818 0.00004
NM_001083961.2(WDR62):c.241G>A (p.Gly81Ser) rs201714619 0.00004
NM_001083961.2(WDR62):c.2490C>T (p.Asn830=) rs587784547 0.00004
NM_001083961.2(WDR62):c.2950A>G (p.Lys984Glu) rs750017267 0.00004
NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met) rs763947043 0.00004
NM_001083961.2(WDR62):c.3857G>A (p.Arg1286His) rs371385084 0.00004
NM_001083961.2(WDR62):c.4144C>T (p.Pro1382Ser) rs772768990 0.00004
NM_001083961.2(WDR62):c.4329G>A (p.Gln1443=) rs771131709 0.00004
NM_001083961.2(WDR62):c.589G>A (p.Val197Ile) rs535488873 0.00004
NM_001083961.2(WDR62):c.791G>A (p.Arg264Gln) rs765050364 0.00004
NM_001085429.2(TMEM213):c.15C>T (p.Pro5=) rs746508351 0.00004
NM_001098484.3(SLC4A4):c.*1009A>G rs1344323489 0.00004
NM_001098484.3(SLC4A4):c.*1438C>T rs886059604 0.00004
NM_001098484.3(SLC4A4):c.*1956T>C rs866386860 0.00004
NM_001098484.3(SLC4A4):c.*3370C>T rs547564634 0.00004
NM_001098484.3(SLC4A4):c.2694+10T>A rs779558159 0.00004
NM_001098537.3(PNPLA7):c.1889+1G>A rs767961762 0.00004
NM_001099287.2(NIPAL4):c.*1248C>T rs143157684 0.00004
NM_001099287.2(NIPAL4):c.1104G>A (p.Pro368=) rs371736153 0.00004
NM_001101426.4(CRPPA):c.304A>G (p.Met102Val) rs763300192 0.00004
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln) rs149091481 0.00004
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp) rs751288252 0.00004
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr) rs761708272 0.00004
NM_001111.5(ADAR):c.1466G>A (p.Arg489Gln) rs751656552 0.00004
NM_001111.5(ADAR):c.1559A>C (p.Glu520Ala) rs916828871 0.00004
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala) rs556625861 0.00004
NM_001111.5(ADAR):c.1867A>G (p.Met623Val) rs1481646805 0.00004
NM_001111.5(ADAR):c.2314G>A (p.Val772Ile) rs763229776 0.00004
NM_001111.5(ADAR):c.2407G>T (p.Gly803Cys) rs1277475981 0.00004
NM_001111.5(ADAR):c.3201G>A (p.Leu1067=) rs750105086 0.00004
NM_001111.5(ADAR):c.935A>T (p.Asp312Val) rs200192885 0.00004
NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn) rs756929736 0.00004
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala) rs775866690 0.00004
NM_001122769.3(LCA5):c.705C>T (p.Thr235=) rs774718880 0.00004
NM_001127453.2(GSDME):c.1121C>T (p.Pro374Leu) rs142107866 0.00004
NM_001127453.2(GSDME):c.75G>T (p.Leu25=) rs767060533 0.00004
NM_001127649.3(PEX26):c.*1171G>A rs184116244 0.00004
NM_001127649.3(PEX26):c.*2369C>G rs971100485 0.00004
NM_001127649.3(PEX26):c.*912C>T rs79240512 0.00004
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) rs200279475 0.00004
NM_001127649.3(PEX26):c.433C>A (p.Leu145Ile) rs774434641 0.00004
NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu) rs757324021 0.00004
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp) rs146904462 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_001127649.3(PEX26):c.764G>A (p.Ser255Asn) rs770645243 0.00004
NM_001127649.3(PEX26):c.851C>T (p.Ala284Val) rs200004274 0.00004
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) rs373421600 0.00004
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln) rs202048083 0.00004
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) rs994405607 0.00004
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.903G>A (p.Met301Ile) rs375386218 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001128228.3(TPRN):c.1725+5G>A rs373827566 0.00004
NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp) rs886044045 0.00004
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) rs562361258 0.00004
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=) rs574076669 0.00004
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) rs748636047 0.00004
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) rs201209494 0.00004
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr) rs535367520 0.00004
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) rs768787171 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646 0.00004
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) rs562368641 0.00004
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) rs372817333 0.00004
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) rs202013788 0.00004
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) rs535831045 0.00004
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) rs773542731 0.00004
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) rs768354800 0.00004
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) rs754979997 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys) rs757240900 0.00004
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) rs200921075 0.00004
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) rs370286628 0.00004
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) rs549673939 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys) rs776921154 0.00004
NM_001134793.2(HYLS1):c.547G>A (p.Glu183Lys) rs374489253 0.00004
NM_001134793.2(HYLS1):c.589C>T (p.Leu197Phe) rs192439596 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=) rs778368877 0.00004
NM_001139.3(ALOX12B):c.1532+15G>T rs370664817 0.00004
NM_001139.3(ALOX12B):c.163G>A (p.Val55Met) rs561140227 0.00004
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser) rs775905402 0.00004
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=) rs150180394 0.00004
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) rs758704444 0.00004
NM_001145308.4(LRTOMT):c.-422T>C rs1042068599 0.00004
NM_001145308.4(LRTOMT):c.-453A>G rs1450426179 0.00004
NM_001145809.2(MYH14):c.*144C>T rs773312540 0.00004
NM_001145809.2(MYH14):c.1779G>A (p.Pro593=) rs557237074 0.00004
NM_001145809.2(MYH14):c.2114G>A (p.Arg705Gln) rs770353210 0.00004
NM_001145809.2(MYH14):c.2248C>G (p.Pro750Ala) rs552485033 0.00004
NM_001145809.2(MYH14):c.2487G>A (p.Arg829=) rs746813925 0.00004
NM_001145809.2(MYH14):c.2988C>T (p.Ser996=) rs368160641 0.00004
NM_001145809.2(MYH14):c.3434G>A (p.Arg1145Gln) rs373207210 0.00004
NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=) rs368190437 0.00004
NM_001145809.2(MYH14):c.3648G>A (p.Thr1216=) rs769824862 0.00004
NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp) rs376705845 0.00004
NM_001145809.2(MYH14):c.4059G>A (p.Ala1353=) rs374065479 0.00004
NM_001145809.2(MYH14):c.4296C>T (p.Ser1432=) rs370811348 0.00004
NM_001145809.2(MYH14):c.5127+12C>T rs373755483 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001161403.3(LIMS2):c.121T>C (p.Phe41Leu) rs372067171 0.00004
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu) rs369093987 0.00004
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu) rs768056213 0.00004
NM_001161403.3(LIMS2):c.331G>C (p.Asp111His) rs371008915 0.00004
NM_001161403.3(LIMS2):c.370C>T (p.Arg124Trp) rs369430789 0.00004
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp) rs780800196 0.00004
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys) rs760929162 0.00004
NM_001161403.3(LIMS2):c.622C>T (p.Arg208Ter) rs146150045 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00004
NM_001171.6(ABCC6):c.1780-11G>A rs532189625 0.00004
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777 0.00004
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883 0.00004
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 0.00004
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala) rs780276741 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) rs531418668 0.00004
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) rs57288618 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001184.4(ATR):c.190A>G (p.Thr64Ala) rs35306038 0.00004
NM_001184.4(ATR):c.2941G>A (p.Val981Ile) rs369913351 0.00004
NM_001184.4(ATR):c.3380T>C (p.Leu1127Ser) rs765465161 0.00004
NM_001184.4(ATR):c.3945+2dup rs537031994 0.00004
NM_001184.4(ATR):c.3955A>G (p.Ile1319Val) rs1401271172 0.00004
NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys) rs766604943 0.00004
NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys) rs377386677 0.00004
NM_001184.4(ATR):c.652G>T (p.Ala218Ser) rs978437399 0.00004
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile) rs556313656 0.00004
NM_001184.4(ATR):c.85G>A (p.Val29Ile) rs746600246 0.00004
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) rs374376744 0.00004
NM_001194998.2(CEP152):c.2068C>T (p.Arg690Cys) rs587783419 0.00004
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) rs142133683 0.00004
NM_001195305.3(BBIP1):c.142A>G (p.Met48Val) rs565980586 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=) rs756432794 0.00004
NM_001267550.2(TTN):c.*197C>G rs886055216 0.00004
NM_001267550.2(TTN):c.*898A>C rs998874416 0.00004
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln) rs771243505 0.00004
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) rs199594729 0.00004
NM_001267550.2(TTN):c.10127C>T (p.Ser3376Leu) rs781368765 0.00004
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343 0.00004
NM_001267550.2(TTN):c.101707C>T (p.Arg33903Cys) rs772574722 0.00004
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr) rs762498249 0.00004
NM_001267550.2(TTN):c.101953G>C (p.Glu33985Gln) rs534613934 0.00004
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln) rs763708375 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln) rs199932621 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met) rs755986938 0.00004
NM_001267550.2(TTN):c.104333C>T (p.Thr34778Met) rs762158917 0.00004
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp) rs879243057 0.00004
NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser) rs755502219 0.00004
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) rs886042785 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898 0.00004
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.106385A>G (p.Gln35462Arg) rs376392819 0.00004
NM_001267550.2(TTN):c.106531+6T>C rs772189154 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.10690G>C (p.Asp3564His) rs371708823 0.00004
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138 0.00004
NM_001267550.2(TTN):c.106975G>A (p.Asp35659Asn) rs878992336 0.00004
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00004
NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys) rs370649675 0.00004
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val) rs751755895 0.00004
NM_001267550.2(TTN):c.11843G>A (p.Arg3948His) rs775618077 0.00004
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn) rs747907234 0.00004
NM_001267550.2(TTN):c.13829C>G (p.Thr4610Arg) rs748210214 0.00004
NM_001267550.2(TTN):c.1398+9G>A rs368350210 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln) rs553541436 0.00004
NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln) rs367630668 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu) rs730880237 0.00004
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile) rs759384825 0.00004
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090 0.00004
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val) rs879242937 0.00004
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser) rs752924679 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.16118C>A (p.Thr5373Asn) rs1057103177 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr) rs727504442 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg) rs774937703 0.00004
NM_001267550.2(TTN):c.16517C>T (p.Ser5506Phe) rs201125295 0.00004
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly) rs763581306 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) rs376012117 0.00004
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile) rs367685188 0.00004
NM_001267550.2(TTN):c.185G>A (p.Arg62His) rs758169489 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615 0.00004
NM_001267550.2(TTN):c.19377G>A (p.Val6459=) rs371652207 0.00004
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) rs775289296 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile) rs140143513 0.00004
NM_001267550.2(TTN):c.20426T>C (p.Ile6809Thr) rs879197315 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys) rs778532757 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.22952A>G (p.Glu7651Gly) rs1461872954 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn) rs755202091 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=) rs886055291 0.00004
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) rs200489972 0.00004
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile) rs769996978 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His) rs760305440 0.00004
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00004
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala) rs778063825 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) rs886055288 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694 0.00004
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn) rs746722623 0.00004
NM_001267550.2(TTN):c.32194G>A (p.Glu10732Lys) rs374348069 0.00004
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg) rs767155246 0.00004
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu) rs781655223 0.00004
NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser) rs767741769 0.00004
NM_001267550.2(TTN):c.33419-9T>C rs1030703466 0.00004
NM_001267550.2(TTN):c.33826+4C>T rs750851792 0.00004
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile) rs369025108 0.00004
NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser) rs754511830 0.00004
NM_001267550.2(TTN):c.34772C>T (p.Ala11591Val) rs72650052 0.00004
NM_001267550.2(TTN):c.34786+3A>G rs1417271874 0.00004
NM_001267550.2(TTN):c.34930+2T>C rs749252830 0.00004
NM_001267550.2(TTN):c.34952A>C (p.Lys11651Thr) rs373656002 0.00004
NM_001267550.2(TTN):c.35194G>A (p.Glu11732Lys) rs939014361 0.00004
NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu) rs373508919 0.00004
NM_001267550.2(TTN):c.36158C>T (p.Thr12053Met) rs761169549 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.36802C>G (p.Pro12268Ala) rs1461810893 0.00004
NM_001267550.2(TTN):c.37496A>C (p.Lys12499Thr) rs1367017667 0.00004
NM_001267550.2(TTN):c.38321T>C (p.Val12774Ala) rs747414237 0.00004
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser) rs757781411 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=) rs369002632 0.00004
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269 0.00004
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg) rs760464072 0.00004
NM_001267550.2(TTN):c.40109T>C (p.Ile13370Thr) rs904655100 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr) rs1393076582 0.00004
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala) rs768249663 0.00004
NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met) rs774214497 0.00004
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln) rs727504774 0.00004
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val) rs371426048 0.00004
NM_001267550.2(TTN):c.41908C>T (p.Pro13970Ser) rs189799340 0.00004
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser) rs781452930 0.00004
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr) rs751017081 0.00004
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His) rs375574483 0.00004
NM_001267550.2(TTN):c.44691G>A (p.Lys14897=) rs755769210 0.00004
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His) rs367996763 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) rs372404266 0.00004
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.49698A>G (p.Thr16566=) rs778112130 0.00004
NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile) rs116765281 0.00004
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val) rs188395969 0.00004
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe) rs397517641 0.00004
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg) rs368846015 0.00004
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met) rs554368924 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) rs748175453 0.00004
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val) rs780672348 0.00004
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro) rs370469461 0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val) rs773447539 0.00004
NM_001267550.2(TTN):c.53561T>A (p.Ile17854Asn) rs375796420 0.00004
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly) rs397517615 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) rs773746281 0.00004
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly) rs201001270 0.00004
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu) rs370583314 0.00004
NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu) rs794727388 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56534C>T (p.Thr18845Met) rs371571153 0.00004
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr) rs368419410 0.00004
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys) rs200544272 0.00004
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=) rs769824680 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg) rs201430346 0.00004
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp) rs397517640 0.00004
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr) rs746014701 0.00004
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His) rs753167856 0.00004
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala) rs550655820 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.61826G>A (p.Arg20609His) rs372546292 0.00004
NM_001267550.2(TTN):c.62137G>A (p.Asp20713Asn) rs1177521349 0.00004
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro) rs1001628726 0.00004
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys) rs878916429 0.00004
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363 0.00004
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His) rs397517652 0.00004
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His) rs777095470 0.00004
NM_001267550.2(TTN):c.63134G>C (p.Gly21045Ala) rs878968094 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr) rs772411127 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.64411C>T (p.Leu21471Phe) rs774609456 0.00004
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser) rs200355808 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.656C>T (p.Thr219Ile) rs926062512 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys) rs577114038 0.00004
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) rs768057735 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln) rs553988103 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu) rs763002536 0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=) rs755897447 0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg) rs761210578 0.00004
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=) rs368985748 0.00004
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His) rs368484355 0.00004
NM_001267550.2(TTN):c.68791A>C (p.Ser22931Arg) rs794729484 0.00004
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His) rs370257707 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His) rs537705563 0.00004
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His) rs374712231 0.00004
NM_001267550.2(TTN):c.73148C>T (p.Ser24383Leu) rs368415251 0.00004
NM_001267550.2(TTN):c.73247C>T (p.Thr24416Ile) rs768476881 0.00004
NM_001267550.2(TTN):c.73292A>T (p.Asp24431Val) rs754343858 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr) rs750166986 0.00004
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His) rs761823581 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn) rs1001852514 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly) rs879087699 0.00004
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala) rs397517712 0.00004
NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr) rs375286376 0.00004
NM_001267550.2(TTN):c.78756T>C (p.Ile26252=) rs372319281 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.79155G>A (p.Val26385=) rs377618488 0.00004
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp) rs369019463 0.00004
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211 0.00004
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr) rs781076407 0.00004
NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile) rs774092000 0.00004
NM_001267550.2(TTN):c.8051A>G (p.Asp2684Gly) rs1008197005 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975 0.00004
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln) rs768308408 0.00004
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg) rs878898668 0.00004
NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn) rs373448447 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys) rs767221784 0.00004
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln) rs1246168127 0.00004
NM_001267550.2(TTN):c.82606G>A (p.Glu27536Lys) rs745974517 0.00004
NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn) rs781128731 0.00004
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys) rs545954394 0.00004
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) rs570847832 0.00004
NM_001267550.2(TTN):c.84383G>A (p.Arg28128His) rs367596354 0.00004
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00004
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu) rs375549179 0.00004
NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met) rs768545532 0.00004
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile) rs368615862 0.00004
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=) rs879222360 0.00004
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His) rs375800916 0.00004
NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile) rs794727453 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.88666C>T (p.Arg29556Trp) rs201657835 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 0.00004
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr) rs201592005 0.00004
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala) rs755018367 0.00004
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) rs774632104 0.00004
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys) rs372303620 0.00004
NM_001267550.2(TTN):c.9116C>T (p.Thr3039Ile) rs774523194 0.00004
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln) rs770081431 0.00004
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp) rs754125601 0.00004
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro) rs762590394 0.00004
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr) rs368427408 0.00004
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn) rs534881266 0.00004
NM_001267550.2(TTN):c.93527T>C (p.Leu31176Pro) rs773083742 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg) rs727503681 0.00004
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile) rs758006837 0.00004
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) rs267599025 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.96310+4A>T rs781222763 0.00004
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala) rs1014216424 0.00004
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) rs55915651 0.00004
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) rs55634230 0.00004
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) rs569593251 0.00004
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile) rs533651182 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys) rs374883160 0.00004
NM_001267550.2(TTN):c.99344G>A (p.Gly33115Asp) rs879247634 0.00004
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr) rs879116103 0.00004
NM_001278293.3(ARL6):c.350A>G (p.Asp117Gly) rs370120886 0.00004
NM_001278293.3(ARL6):c.536-4T>C rs201939836 0.00004
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.1012G>A (p.Asp338Asn) rs116495318 0.00004
NM_001283009.2(RTEL1):c.1178C>T (p.Ala393Val) rs200555432 0.00004
NM_001283009.2(RTEL1):c.1594C>T (p.Arg532Trp) rs779050514 0.00004
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn) rs371161995 0.00004
NM_001283009.2(RTEL1):c.1800+4G>A rs370973086 0.00004
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr) rs149063501 0.00004
NM_001283009.2(RTEL1):c.220G>A (p.Glu74Lys) rs140042227 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val) rs761666401 0.00004
NM_001283009.2(RTEL1):c.2284C>T (p.Arg762Trp) rs750251447 0.00004
NM_001283009.2(RTEL1):c.2509G>A (p.Ala837Thr) rs753435220 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met) rs201560152 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3362G>A (p.Arg1121His) rs765060195 0.00004
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met) rs372852392 0.00004
NM_001283009.2(RTEL1):c.3409G>A (p.Gly1137Ser) rs202193792 0.00004
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu) rs749331637 0.00004
NM_001283009.2(RTEL1):c.3479C>T (p.Thr1160Ile) rs754781364 0.00004
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val) rs778286683 0.00004
NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln) rs769163032 0.00004
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile) rs199760510 0.00004
NM_001283009.2(RTEL1):c.638G>A (p.Arg213Gln) rs770742969 0.00004
NM_001283009.2(RTEL1):c.666A>G (p.Ile222Met) rs373656372 0.00004
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.902C>T (p.Ala301Val) rs373849709 0.00004
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn) rs753838163 0.00004
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00004
NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr) rs757854202 0.00004
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr) rs553079779 0.00004
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) rs773375756 0.00004
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) rs773524165 0.00004
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) rs774592908 0.00004
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) rs749825699 0.00004
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) rs967603971 0.00004
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) rs200490147 0.00004
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) rs772256006 0.00004
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) rs1049863128 0.00004
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) rs368136238 0.00004
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) rs761946256 0.00004
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) rs374096160 0.00004
NM_001329943.3(KIAA0586):c.4495+3791G>A rs924361010 0.00004
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) rs199837404 0.00004
NM_001351132.2(PEX5):c.-16-149A>G rs1355750608 0.00004
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) rs199822160 0.00004
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln) rs774915360 0.00004
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) rs148266027 0.00004
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln) rs371462892 0.00004
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp) rs139347001 0.00004
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His) rs201158549 0.00004
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val) rs773854263 0.00004
NM_001351132.2(PEX5):c.415G>C (p.Asp139His) rs375689941 0.00004
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp) rs370913045 0.00004
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg) rs998840500 0.00004
NM_001353108.3(CEP63):c.1368A>G (p.Ala456=) rs372685774 0.00004
NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln) rs371924128 0.00004
NM_001366722.1(GRIP1):c.236G>A (p.Arg79Lys) rs375701385 0.00004
NM_001366722.1(GRIP1):c.2793G>A (p.Ser931=) rs371224677 0.00004
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872 0.00004
NM_001367624.2(ZNF469):c.1719C>T (p.His573=) rs552893295 0.00004
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664 0.00004
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=) rs748097865 0.00004
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys) rs540443650 0.00004
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=) rs534464702 0.00004
NM_001374623.1(PNPLA1):c.934A>G (p.Lys312Glu) rs199548644 0.00004
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.11669-7C>A rs548573570 0.00004
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala) rs201777220 0.00004
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400 0.00004
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala) rs376991574 0.00004
NM_001378454.1(ALMS1):c.311C>T (p.Thr104Ile) rs1394136837 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372 0.00004
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502 0.00004
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6577G>A (p.Glu2193Lys) rs911597055 0.00004
NM_001378454.1(ALMS1):c.6628A>G (p.Asn2210Asp) rs780909821 0.00004
NM_001378454.1(ALMS1):c.6815T>C (p.Met2272Thr) rs1330734793 0.00004
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys) rs375458331 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg) rs199698329 0.00004
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu) rs190445250 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro) rs532551687 0.00004
NM_001378454.1(ALMS1):c.8035T>G (p.Trp2679Gly) rs1403694361 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.8206G>A (p.Val2736Ile) rs766878343 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr) rs565501407 0.00004
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136 0.00004
NM_001378454.1(ALMS1):c.9713G>A (p.Arg3238His) rs1176919572 0.00004
NM_001378454.1(ALMS1):c.9770G>A (p.Arg3257His) rs748153319 0.00004
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn) rs373797532 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_001379286.1(ZNF423):c.1192C>T (p.Pro398Ser) rs769556629 0.00004
NM_001379286.1(ZNF423):c.1406G>A (p.Arg469His) rs200959271 0.00004
NM_001379286.1(ZNF423):c.1873C>T (p.Arg625Trp) rs771060189 0.00004
NM_001379286.1(ZNF423):c.197A>C (p.Asp66Ala) rs749243699 0.00004
NM_001379286.1(ZNF423):c.2090C>T (p.Ser697Leu) rs745433383 0.00004
NM_001379286.1(ZNF423):c.2151G>C (p.Lys717Asn) rs553236659 0.00004
NM_001379286.1(ZNF423):c.2546C>T (p.Thr849Met) rs375710152 0.00004
NM_001379286.1(ZNF423):c.2566A>G (p.Met856Val) rs372506673 0.00004
NM_001379286.1(ZNF423):c.2620C>G (p.Pro874Ala) rs199903698 0.00004
NM_001379286.1(ZNF423):c.2738G>A (p.Arg913Gln) rs777432098 0.00004
NM_001379286.1(ZNF423):c.2771A>G (p.Asp924Gly) rs765351644 0.00004
NM_001379286.1(ZNF423):c.2942C>T (p.Thr981Met) rs773947241 0.00004
NM_001379286.1(ZNF423):c.315C>A (p.Asp105Glu) rs201546282 0.00004
NM_001379286.1(ZNF423):c.3244C>T (p.Arg1082Cys) rs373906393 0.00004
NM_001379286.1(ZNF423):c.3245G>A (p.Arg1082His) rs370797524 0.00004
NM_001379286.1(ZNF423):c.3316C>T (p.Arg1106Cys) rs202013818 0.00004
NM_001379286.1(ZNF423):c.3350C>T (p.Pro1117Leu) rs775736157 0.00004
NM_001379286.1(ZNF423):c.3373T>A (p.Cys1125Ser) rs557608915 0.00004
NM_001379286.1(ZNF423):c.362C>T (p.Ala121Val) rs377052758 0.00004
NM_001379286.1(ZNF423):c.3739G>A (p.Val1247Ile) rs911470655 0.00004
NM_001379286.1(ZNF423):c.56C>T (p.Ala19Val) rs747031282 0.00004
NM_001379286.1(ZNF423):c.785C>T (p.Ser262Leu) rs773775408 0.00004
NM_001379286.1(ZNF423):c.848C>T (p.Thr283Met) rs553506281 0.00004
NM_001379286.1(ZNF423):c.877C>T (p.Arg293Cys) rs201388998 0.00004
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) rs1372095738 0.00004
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) rs371566997 0.00004
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) rs763307442 0.00004
NM_001382391.1(CSPP1):c.1827+5T>C rs897591892 0.00004
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) rs374318063 0.00004
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) rs778822396 0.00004
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) rs753718429 0.00004
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) rs750443075 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) rs201972175 0.00004
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) rs374744285 0.00004
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) rs761172555 0.00004
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) rs113092257 0.00004
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg) rs1052481975 0.00004
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423 0.00004
NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser) rs141419177 0.00004
NM_001384140.1(PCDH15):c.3328G>A (p.Asp1110Asn) rs138363888 0.00004
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=) rs202091131 0.00004
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys) rs138398244 0.00004
NM_001384140.1(PCDH15):c.4272A>G (p.Pro1424=) rs759109238 0.00004
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg) rs550282961 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His) rs747921916 0.00004
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met) rs374871163 0.00004
NM_001384474.1(LOXHD1):c.1883G>A (p.Gly628Asp) rs138530758 0.00004
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00004
NM_001384474.1(LOXHD1):c.246-14C>T rs139812523 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00004
NM_001384474.1(LOXHD1):c.3016G>A (p.Glu1006Lys) rs868583953 0.00004
NM_001384474.1(LOXHD1):c.3515-13A>G rs545297878 0.00004
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met) rs113591161 0.00004
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982 0.00004
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00004
NM_001384474.1(LOXHD1):c.4428G>A (p.Thr1476=) rs577112286 0.00004
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu) rs868705338 0.00004
NM_001384474.1(LOXHD1):c.5454A>G (p.Pro1818=) rs763569894 0.00004
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn) rs1167683873 0.00004
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp) rs199838861 0.00004
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00004
NM_001384474.1(LOXHD1):c.621G>A (p.Arg207=) rs200328459 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001386140.1(MTTP):c.*826T>C rs960548926 0.00004
NM_001386140.1(MTTP):c.*98T>A rs886058961 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) rs369453726 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) rs761984561 0.00004
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) rs764357849 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr) rs759200881 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_001393500.2(TOMT):c.469G>A (p.Val157Met) rs886048631 0.00004
NM_001393500.2(TOMT):c.655C>T (p.Arg219Cys) rs370168246 0.00004
NM_001393500.2(TOMT):c.698G>A (p.Arg233His) rs776760828 0.00004
NM_001393500.2(TOMT):c.90G>A (p.Thr30=) rs556093010 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) rs375092472 0.00004
NM_001692.4(ATP6V1B1):c.1121A>G (p.Asp374Gly) rs1329865941 0.00004
NM_001692.4(ATP6V1B1):c.1161C>G (p.Asn387Lys) rs377624239 0.00004
NM_001692.4(ATP6V1B1):c.538G>A (p.Gly180Ser) rs267599435 0.00004
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln) rs377739193 0.00004
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728 0.00004
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852 0.00004
NM_002109.6(HARS1):c.494G>A (p.Arg165His) rs373522589 0.00004
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524 0.00004
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr) rs766324898 0.00004
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065 0.00004
NM_002180.3(IGHMBP2):c.*172C>T rs3750978 0.00004
NM_002180.3(IGHMBP2):c.*529C>T rs1373174966 0.00004
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) rs750407517 0.00004
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203 0.00004
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 0.00004
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345 0.00004
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) rs751046981 0.00004
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val) rs759609027 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe) rs772945179 0.00004
NM_002230.4(JUP):c.*87G>A rs375989026 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp) rs376608339 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013 0.00004
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) rs397517298 0.00004
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) rs545547083 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565 0.00004
NM_002230.4(JUP):c.257G>A (p.Arg86Gln) rs782341732 0.00004
NM_002230.4(JUP):c.321G>A (p.Glu107=) rs781978743 0.00004
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278 0.00004
NM_002230.4(JUP):c.493A>G (p.Ile165Val) rs782461741 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met) rs566435665 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002241.5(KCNJ10):c.*1165G>A rs886045408 0.00004
NM_002241.5(KCNJ10):c.*2373C>T rs117037263 0.00004
NM_002241.5(KCNJ10):c.*868C>T rs753707600 0.00004
NM_002241.5(KCNJ10):c.*991A>G rs187278337 0.00004
NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln) rs766560083 0.00004
NM_002292.3(LAMB2):c.-241T>C rs886058680 0.00004
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser) rs376294474 0.00004
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818 0.00004
NM_002292.4(LAMB2):c.1552G>A (p.Gly518Ser) rs567153631 0.00004
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro) rs764346736 0.00004
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp) rs149304508 0.00004
NM_002292.4(LAMB2):c.2152C>T (p.Leu718=) rs756535650 0.00004
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys) rs748798004 0.00004
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys) rs200658738 0.00004
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) rs756931255 0.00004
NM_002292.4(LAMB2):c.2578C>T (p.Arg860Cys) rs563405094 0.00004
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu) rs753249251 0.00004
NM_002292.4(LAMB2):c.3442C>T (p.Arg1148Cys) rs762984990 0.00004
NM_002292.4(LAMB2):c.3494G>A (p.Arg1165His) rs374189761 0.00004
NM_002292.4(LAMB2):c.359G>A (p.Arg120Gln) rs767595866 0.00004
NM_002292.4(LAMB2):c.3619C>T (p.Arg1207Cys) rs372032732 0.00004
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr) rs141062242 0.00004
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val) rs771785818 0.00004
NM_002292.4(LAMB2):c.4001G>C (p.Arg1334Pro) rs144783830 0.00004
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) rs771215576 0.00004
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751 0.00004
NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val) rs778561883 0.00004
NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp) rs138816491 0.00004
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) rs764128779 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met) rs575865236 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.249C>T (p.Ser83=) rs375802434 0.00004
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00004
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) rs757262154 0.00004
NM_002335.4(LRP5):c.284C>T (p.Thr95Met) rs777743208 0.00004
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys) rs201285828 0.00004
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys) rs767690779 0.00004
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val) rs772148405 0.00004
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) rs369637767 0.00004
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) rs765378705 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu) rs778004788 0.00004
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) rs1183944927 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) rs201557658 0.00004
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) rs535649291 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002473.6(MYH9):c.4830C>T (p.Ala1610=) rs751904301 0.00004
NM_002473.6(MYH9):c.552C>T (p.Thr184=) rs764398831 0.00004
NM_002485.5(NBN):c.1027T>C (p.Ser343Pro) rs530636519 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002617.4(PEX10):c.*499G>A rs886046143 0.00004
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967 0.00004
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp) rs377135853 0.00004
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00004
NM_002617.4(PEX10):c.407G>A (p.Arg136His) rs745469808 0.00004
NM_002617.4(PEX10):c.776+5G>A rs747776170 0.00004
NM_002617.4(PEX10):c.959T>C (p.Ile320Thr) rs769097644 0.00004
NM_002618.4(PEX13):c.*2550G>A rs544817238 0.00004
NM_002618.4(PEX13):c.*3038A>T rs886056211 0.00004
NM_002618.4(PEX13):c.326G>A (p.Arg109His) rs372193938 0.00004
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) rs749542687 0.00004
NM_002618.4(PEX13):c.435G>A (p.Met145Ile) rs1345774394 0.00004
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002700.3(POU4F3):c.405G>A (p.Pro135=) rs145372405 0.00004
NM_002855.5(NECTIN1):c.*1129A>T rs140371623 0.00004
NM_002855.5(NECTIN1):c.*1266C>T rs1305206364 0.00004
NM_002855.5(NECTIN1):c.*1666C>T rs187027061 0.00004
NM_002855.5(NECTIN1):c.*2397A>C rs964715355 0.00004
NM_002855.5(NECTIN1):c.*2398G>T rs1018126118 0.00004
NM_002855.5(NECTIN1):c.*3488C>T rs139964288 0.00004
NM_002855.5(NECTIN1):c.900C>G (p.Leu300=) rs1294282077 0.00004
NM_002857.4(PEX19):c.*662C>T rs773981843 0.00004
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr) rs376013124 0.00004
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg) rs543271441 0.00004
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp) rs367813991 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 0.00004
NM_002906.3(RDX):c.-221C>A rs886047654 0.00004
NM_002906.3(RDX):c.-291G>A rs1391986749 0.00004
NM_002906.4(RDX):c.*1358C>T rs766075876 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003332.4(TYROBP):c.*5G>A rs372703196 0.00004
NM_003332.4(TYROBP):c.111G>A (p.Thr37=) rs200694727 0.00004
NM_003383.5(VLDLR):c.*281G>C rs753515879 0.00004
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310 0.00004
NM_003383.5(VLDLR):c.2416+13C>T rs200878136 0.00004
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439 0.00004
NM_003384.3(VRK1):c.-11C>T rs1055946372 0.00004
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836 0.00004
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu) rs777028935 0.00004
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) rs536881543 0.00004
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys) rs769507445 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp) rs772136738 0.00004
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu) rs751663397 0.00004
NM_003573.2(LTBP4):c.194G>A (p.Arg65Lys) rs200951126 0.00004
NM_003619.4(PRSS12):c.*800G>A rs1368772207 0.00004
NM_003619.4(PRSS12):c.177G>A (p.Pro59=) rs746966869 0.00004
NM_003619.4(PRSS12):c.1916+11C>T rs775761093 0.00004
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=) rs138882049 0.00004
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter) rs751423861 0.00004
NM_003619.4(PRSS12):c.890A>G (p.His297Arg) rs756685819 0.00004
NM_003630.3(PEX3):c.*573A>G rs886061135 0.00004
NM_003630.3(PEX3):c.-186C>T rs993758988 0.00004
NM_003630.3(PEX3):c.332-9T>A rs774963514 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_003823.4(TNFRSF6B):c.*83G>A rs767909940 0.00004
NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg) rs917853575 0.00004
NM_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 0.00004
NM_003896.3(ST3GAL5):c.-95G>T rs1271027038 0.00004
NM_003896.4(ST3GAL5):c.385A>G (p.Met129Val) rs374363945 0.00004
NM_003896.4(ST3GAL5):c.856T>A (p.Trp286Arg) rs570665646 0.00004
NM_003896.4(ST3GAL5):c.923T>C (p.Ile308Thr) rs372467220 0.00004
NM_004004.5(GJB2):c.-259C>T rs1417111166 0.00004
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00004
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 0.00004
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu) rs779358271 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004100.5(EYA4):c.*2049T>C rs752513150 0.00004
NM_004100.5(EYA4):c.*2360G>A rs886061094 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) rs778473535 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu) rs182707743 0.00004
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val) rs184915457 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) rs781121286 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) rs200233956 0.00004
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln) rs780793711 0.00004
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln) rs756890406 0.00004
NM_004393.6(DAG1):c.1432A>G (p.Thr478Ala) rs767278957 0.00004
NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg) rs757032530 0.00004
NM_004393.6(DAG1):c.2038C>T (p.Arg680Trp) rs775023091 0.00004
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln) rs376931365 0.00004
NM_004393.6(DAG1):c.2065C>T (p.Arg689Trp) rs138933315 0.00004
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) rs758254304 0.00004
NM_004393.6(DAG1):c.220G>A (p.Val74Ile) rs189360006 0.00004
NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln) rs776025512 0.00004
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr) rs201869343 0.00004
NM_004393.6(DAG1):c.539C>T (p.Ser180Phe) rs756584618 0.00004
NM_004393.6(DAG1):c.835G>T (p.Ala279Ser) rs202239406 0.00004
NM_004393.6(DAG1):c.853G>A (p.Ala285Thr) rs78720195 0.00004
NM_004393.6(DAG1):c.971T>A (p.Ile324Asn) rs745449164 0.00004
NM_004407.4(DMP1):c.*131T>C rs992683383 0.00004
NM_004407.4(DMP1):c.*799T>C rs563220149 0.00004
NM_004407.4(DMP1):c.11G>C (p.Ser4Thr) rs373562639 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) rs765645957 0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) rs746482538 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004426.3(PHC1):c.1777A>T (p.Met593Leu) rs1053401532 0.00004
NM_004525.3(LRP2):c.*162G>A rs978826047 0.00004
NM_004525.3(LRP2):c.101G>A (p.Arg34His) rs186568676 0.00004
NM_004525.3(LRP2):c.10307A>T (p.Tyr3436Phe) rs201200378 0.00004
NM_004525.3(LRP2):c.10415A>G (p.Asn3472Ser) rs755241846 0.00004
NM_004525.3(LRP2):c.10559C>T (p.Ala3520Val) rs150113078 0.00004
NM_004525.3(LRP2):c.10757G>A (p.Arg3586His) rs762352363 0.00004
NM_004525.3(LRP2):c.10992G>A (p.Ser3664=) rs562394755 0.00004
NM_004525.3(LRP2):c.11072G>A (p.Arg3691His) rs142884214 0.00004
NM_004525.3(LRP2):c.11270G>A (p.Arg3757Gln) rs373720344 0.00004
NM_004525.3(LRP2):c.11498-15T>C rs534214309 0.00004
NM_004525.3(LRP2):c.11503C>T (p.Arg3835Cys) rs774128360 0.00004
NM_004525.3(LRP2):c.12350G>A (p.Arg4117His) rs761475630 0.00004
NM_004525.3(LRP2):c.13306G>A (p.Val4436Ile) rs750736741 0.00004
NM_004525.3(LRP2):c.1703C>T (p.Ser568Leu) rs141305635 0.00004
NM_004525.3(LRP2):c.2485C>T (p.Arg829Trp) rs368619363 0.00004
NM_004525.3(LRP2):c.2512G>A (p.Gly838Arg) rs374039326 0.00004
NM_004525.3(LRP2):c.2530G>A (p.Asp844Asn) rs1478550190 0.00004
NM_004525.3(LRP2):c.2813G>A (p.Arg938Gln) rs372927481 0.00004
NM_004525.3(LRP2):c.2930C>A (p.Pro977His) rs766831061 0.00004
NM_004525.3(LRP2):c.3650C>T (p.Ser1217Leu) rs768863475 0.00004
NM_004525.3(LRP2):c.3667+10A>G rs374683235 0.00004
NM_004525.3(LRP2):c.3794C>T (p.Ala1265Val) rs750783356 0.00004
NM_004525.3(LRP2):c.4544C>T (p.Ala1515Val) rs370313238 0.00004
NM_004525.3(LRP2):c.478A>G (p.Thr160Ala) rs748258028 0.00004
NM_004525.3(LRP2):c.5115C>T (p.Ala1705=) rs775377117 0.00004
NM_004525.3(LRP2):c.512G>C (p.Arg171Thr) rs184319574 0.00004
NM_004525.3(LRP2):c.6288C>T (p.Asn2096=) rs748160339 0.00004
NM_004525.3(LRP2):c.6649C>T (p.Arg2217Cys) rs914080135 0.00004
NM_004525.3(LRP2):c.6814C>T (p.Arg2272Cys) rs368840374 0.00004
NM_004525.3(LRP2):c.7006C>T (p.Arg2336Trp) rs149849411 0.00004
NM_004525.3(LRP2):c.7431T>C (p.Thr2477=) rs773229933 0.00004
NM_004525.3(LRP2):c.770-12T>C rs138572086 0.00004
NM_004525.3(LRP2):c.8245G>T (p.Ala2749Ser) rs755330496 0.00004
NM_004525.3(LRP2):c.8603A>C (p.Glu2868Ala) rs149252072 0.00004
NM_004525.3(LRP2):c.8846C>T (p.Ser2949Leu) rs200068217 0.00004
NM_004525.3(LRP2):c.9032+5A>G rs371476119 0.00004
NM_004525.3(LRP2):c.9265G>A (p.Glu3089Lys) rs745739674 0.00004
NM_004525.3(LRP2):c.9442C>A (p.Arg3148=) rs776178253 0.00004
NM_004525.3(LRP2):c.9846A>G (p.Arg3282=) rs202135090 0.00004
NM_004525.3(LRP2):c.9895C>T (p.Leu3299Phe) rs143920714 0.00004
NM_004560.4(ROR2):c.*487C>G rs970063320 0.00004
NM_004560.4(ROR2):c.*558C>T rs571058325 0.00004
NM_004560.4(ROR2):c.153C>T (p.Asp51=) rs572950289 0.00004
NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln) rs373544528 0.00004
NM_004560.4(ROR2):c.1596A>G (p.Gln532=) rs528393492 0.00004
NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala) rs374811924 0.00004
NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn) rs139802697 0.00004
NM_004560.4(ROR2):c.175+3G>T rs557936422 0.00004
NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln) rs765278167 0.00004
NM_004560.4(ROR2):c.2277G>A (p.Ala759=) rs369491865 0.00004
NM_004560.4(ROR2):c.2649G>A (p.Met883Ile) rs373037095 0.00004
NM_004560.4(ROR2):c.281G>A (p.Arg94Gln) rs367829411 0.00004
NM_004560.4(ROR2):c.702C>T (p.Phe234=) rs559697443 0.00004
NM_004560.4(ROR2):c.864G>A (p.Ala288=) rs142926399 0.00004
NM_004565.3(PEX14):c.1126C>T (p.Arg376Trp) rs765354583 0.00004
NM_004565.3(PEX14):c.112A>G (p.Asn38Asp) rs940853094 0.00004
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184 0.00004
NM_004565.3(PEX14):c.320G>A (p.Arg107Gln) rs774125017 0.00004
NM_004565.3(PEX14):c.860C>T (p.Thr287Met) rs376758920 0.00004
NM_004813.4(PEX16):c.209G>A (p.Arg70Gln) rs776600798 0.00004
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr) rs374045163 0.00004
NM_004813.4(PEX16):c.421A>G (p.Ile141Val) rs761426585 0.00004
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser) rs774416603 0.00004
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp) rs759501669 0.00004
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 0.00004
NM_004813.4(PEX16):c.768C>T (p.Ser256=) rs1173649955 0.00004
NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr) rs947040918 0.00004
NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val) rs778904290 0.00004
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) rs1276515547 0.00004
NM_004937.2(CTNS):c.-362C>T rs886052862 0.00004
NM_004937.2(CTNS):c.-364G>T rs886052861 0.00004
NM_004937.3(CTNS):c.*1680G>A rs572393960 0.00004
NM_004937.3(CTNS):c.*2477C>G rs781672689 0.00004
NM_004937.3(CTNS):c.*2628C>T rs886052886 0.00004
NM_004937.3(CTNS):c.1083G>A (p.Pro361=) rs371189196 0.00004
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) rs113875421 0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly) rs764372178 0.00004
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) rs559490847 0.00004
NM_004999.4(MYO6):c.*1181G>A rs769731324 0.00004
NM_004999.4(MYO6):c.*1284T>G rs546877472 0.00004
NM_004999.4(MYO6):c.*2146A>C rs1005102784 0.00004
NM_004999.4(MYO6):c.*305T>C rs1050868572 0.00004
NM_004999.4(MYO6):c.*362A>G rs886061766 0.00004
NM_004999.4(MYO6):c.*692C>A rs1054285205 0.00004
NM_004999.4(MYO6):c.*860G>T rs570922846 0.00004
NM_004999.4(MYO6):c.1029C>T (p.Gly343=) rs752948085 0.00004
NM_004999.4(MYO6):c.2946+10T>C rs371745279 0.00004
NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln) rs374966499 0.00004
NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn) rs773042864 0.00004
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118 0.00004
NM_005219.5(DIAPH1):c.*39G>A rs375612034 0.00004
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu) rs781398463 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His) rs752824698 0.00004
NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu) rs370578225 0.00004
NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu) rs757339076 0.00004
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) rs200394036 0.00004
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg) rs376832359 0.00004
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456 0.00004
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly) rs756921782 0.00004
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) rs139197943 0.00004
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) rs775278986 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=) rs775414253 0.00004
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn) rs779096061 0.00004
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) rs758565772 0.00004
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr) rs374243778 0.00004
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) rs373570729 0.00004
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu) rs148904556 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2327A>T (p.Gln776Leu) rs374863954 0.00004
NM_005422.4(TECTA):c.2643C>T (p.Phe881=) rs544376595 0.00004
NM_005422.4(TECTA):c.5091G>A (p.Met1697Ile) rs200028435 0.00004
NM_005422.4(TECTA):c.5142C>T (p.Tyr1714=) rs151087951 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_005422.4(TECTA):c.80T>C (p.Leu27Pro) rs373248083 0.00004
NM_005529.7(HSPG2):c.1078+11G>A rs373529899 0.00004
NM_005529.7(HSPG2):c.12007C>T (p.Arg4003Trp) rs529517544 0.00004
NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=) rs568526447 0.00004
NM_005529.7(HSPG2):c.1399C>T (p.Arg467Cys) rs146861173 0.00004
NM_005529.7(HSPG2):c.2360C>T (p.Thr787Met) rs758631172 0.00004
NM_005529.7(HSPG2):c.245-11C>T rs377063208 0.00004
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) rs369313904 0.00004
NM_005529.7(HSPG2):c.3003+14G>A rs369278427 0.00004
NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met) rs748529459 0.00004
NM_005529.7(HSPG2):c.3556C>T (p.Arg1186Trp) rs113743582 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4409G>A (p.Arg1470Gln) rs41310382 0.00004
NM_005529.7(HSPG2):c.4576G>A (p.Glu1526Lys) rs767254154 0.00004
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln) rs377462320 0.00004
NM_005529.7(HSPG2):c.599C>T (p.Thr200Met) rs201288550 0.00004
NM_005529.7(HSPG2):c.6110G>A (p.Arg2037Gln) rs760003870 0.00004
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn) rs780545355 0.00004
NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His) rs545161793 0.00004
NM_005529.7(HSPG2):c.7346C>T (p.Ala2449Val) rs375141478 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005529.7(HSPG2):c.8163C>T (p.Ser2721=) rs768337273 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005529.7(HSPG2):c.8287C>T (p.Arg2763Cys) rs775757447 0.00004
NM_005529.7(HSPG2):c.8431G>A (p.Glu2811Lys) rs61747612 0.00004
NM_005529.7(HSPG2):c.8711C>T (p.Ala2904Val) rs372570791 0.00004
NM_005529.7(HSPG2):c.916G>A (p.Gly306Arg) rs149899316 0.00004
NM_005529.7(HSPG2):c.9176G>A (p.Arg3059Gln) rs760159387 0.00004
NM_005529.7(HSPG2):c.937G>A (p.Gly313Ser) rs536020535 0.00004
NM_005529.7(HSPG2):c.9563A>C (p.Gln3188Pro) rs758584149 0.00004
NM_005548.3(KARS1):c.382G>A (p.Val128Met) rs374126791 0.00004
NM_005708.5(GPC6):c.*1897G>C rs905014383 0.00004
NM_005708.5(GPC6):c.-133G>T rs550165187 0.00004
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) rs146118253 0.00004
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg) rs199549168 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro) rs200008141 0.00004
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp) rs781096883 0.00004
NM_005876.5(SPEG):c.9078C>T (p.His3026=) rs541299207 0.00004
NM_005982.4(SIX1):c.*1251A>G rs746385772 0.00004
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00004
NM_006005.3(WFS1):c.*506C>T rs886059536 0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) rs373146435 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) rs140407862 0.00004
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) rs773280611 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) rs760692398 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006005.3(WFS1):c.168C>T (p.Asp56=) rs112598170 0.00004
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) rs148544389 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) rs547089139 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) rs770713329 0.00004
NM_006019.4(TCIRG1):c.-4-3C>T rs200201422 0.00004
NM_006019.4(TCIRG1):c.1009C>T (p.Arg337Trp) rs766765320 0.00004
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile) rs763319140 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2119-9G>A rs761413420 0.00004
NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=) rs370572421 0.00004
NM_006019.4(TCIRG1):c.2244C>T (p.Ser748=) rs759227930 0.00004
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_006019.4(TCIRG1):c.726C>T (p.His242=) rs1054033489 0.00004
NM_006019.4(TCIRG1):c.964G>A (p.Ala322Thr) rs202161177 0.00004
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp) rs367673863 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile) rs747655324 0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr) rs149721308 0.00004
NM_006208.3(ENPP1):c.*1716G>A rs969372935 0.00004
NM_006208.3(ENPP1):c.*3126C>T rs886061078 0.00004
NM_006208.3(ENPP1):c.21G>T (p.Ala7=) rs886061063 0.00004
NM_006208.3(ENPP1):c.2462G>A (p.Arg821His) rs367759638 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006208.3(ENPP1):c.536A>G (p.Asn179Ser) rs2273411 0.00004
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_006383.4(CIB2):c.223G>A (p.Val75Met) rs758743502 0.00004
NM_006397.3(RNASEH2A):c.175G>C (p.Asp59His) rs766343269 0.00004
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=) rs767723275 0.00004
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu) rs369355807 0.00004
NM_006397.3(RNASEH2A):c.638-3C>T rs780614048 0.00004
NM_006432.5(NPC2):c.190+4C>T rs776980208 0.00004
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val) rs765529431 0.00004
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00004
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg) rs769333887 0.00004
NM_006721.4(ADK):c.*296G>A rs527621742 0.00004
NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln) rs766183158 0.00004
NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro) rs1247249384 0.00004
NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln) rs145429721 0.00004
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) rs200554674 0.00004
NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp) rs776893562 0.00004
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977 0.00004
NM_006736.6(DNAJB2):c.754G>C (p.Asp252His) rs375536235 0.00004
NM_006765.4(TUSC3):c.557C>T (p.Thr186Met) rs768790010 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg) rs376109480 0.00004
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=) rs550949679 0.00004
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val) rs201926841 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His) rs760761246 0.00004
NM_006846.4(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367 0.00004
NM_006846.4(SPINK5):c.194C>T (p.Thr65Met) rs552548594 0.00004
NM_006846.4(SPINK5):c.2275C>T (p.Arg759Cys) rs374182762 0.00004
NM_006846.4(SPINK5):c.2276G>A (p.Arg759His) rs781193914 0.00004
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly) rs745918698 0.00004
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn) rs560325947 0.00004
NM_006846.4(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772 0.00004
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr) rs199498786 0.00004
NM_006846.4(SPINK5):c.418G>A (p.Gly140Arg) rs573158320 0.00004
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084 0.00004
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe) rs750627345 0.00004
NM_006846.4(SPINK5):c.834A>C (p.Gln278His) rs201354872 0.00004
NM_006892.4(DNMT3B):c.*183C>T rs886056620 0.00004
NM_006892.4(DNMT3B):c.*602C>T rs1053096580 0.00004
NM_006892.4(DNMT3B):c.1058C>T (p.Thr353Met) rs763492333 0.00004
NM_006892.4(DNMT3B):c.1079C>T (p.Ser360Leu) rs766544393 0.00004
NM_006892.4(DNMT3B):c.1360C>T (p.Leu454Phe) rs546965300 0.00004
NM_006892.4(DNMT3B):c.1378-3C>T rs777850259 0.00004
NM_006892.4(DNMT3B):c.1490+9T>C rs370659978 0.00004
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=) rs140714949 0.00004
NM_006892.4(DNMT3B):c.1610G>A (p.Arg537Gln) rs544333946 0.00004
NM_006892.4(DNMT3B):c.1633C>T (p.Arg545Cys) rs372550911 0.00004
NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe) rs764811687 0.00004
NM_006892.4(DNMT3B):c.1718G>A (p.Arg573Gln) rs143300013 0.00004
NM_006892.4(DNMT3B):c.1775A>G (p.Lys592Arg) rs367796697 0.00004
NM_006892.4(DNMT3B):c.365G>A (p.Arg122His) rs757657111 0.00004
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=) rs111877243 0.00004
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) rs183320612 0.00004
NM_007259.5(VPS45):c.319G>A (p.Val107Met) rs782553177 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 0.00004
NM_012188.5(FOXI1):c.*418T>C rs886060402 0.00004
NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys) rs140059042 0.00004
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val) rs764366522 0.00004
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe) rs747067557 0.00004
NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala) rs781475334 0.00004
NM_012210.4(TRIM32):c.1384G>A (p.Val462Met) rs772922696 0.00004
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln) rs781359060 0.00004
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr) rs539376933 0.00004
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp) rs752016708 0.00004
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu) rs377510422 0.00004
NM_012233.3(RAB3GAP1):c.*1898G>A rs1008193661 0.00004
NM_012233.3(RAB3GAP1):c.*557T>C rs576779170 0.00004
NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala) rs148190655 0.00004
NM_012414.4(RAB3GAP2):c.*104T>C rs1041418234 0.00004
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.2955G>A (p.Met985Ile) rs754509783 0.00004
NM_012414.4(RAB3GAP2):c.2962G>A (p.Asp988Asn) rs369645487 0.00004
NM_012414.4(RAB3GAP2):c.2981-7C>T rs750436297 0.00004
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595 0.00004
NM_012448.4(STAT5B):c.2077+7A>G rs575140462 0.00004
NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) rs138255473 0.00004
NM_012448.4(STAT5B):c.787G>A (p.Gly263Arg) rs759281260 0.00004
NM_012463.4(ATP6V0A2):c.*1828C>G rs886049068 0.00004
NM_012463.4(ATP6V0A2):c.*709C>T rs547048918 0.00004
NM_012463.4(ATP6V0A2):c.-148C>T rs886049059 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys) rs767718283 0.00004
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys) rs753112469 0.00004
NM_013382.7(POMT2):c.*119T>C rs886050824 0.00004
NM_013382.7(POMT2):c.*11A>G rs373236103 0.00004
NM_013382.7(POMT2):c.*1265T>G rs886050816 0.00004
NM_013382.7(POMT2):c.*2359A>T rs564345093 0.00004
NM_013382.7(POMT2):c.*809G>A rs1035134599 0.00004
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu) rs376689848 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro) rs777504929 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_014026.6(DCPS):c.329A>G (p.Asn110Ser) rs375853628 0.00004
NM_014026.6(DCPS):c.386C>T (p.Thr129Met) rs201550193 0.00004
NM_014026.6(DCPS):c.541G>A (p.Asp181Asn) rs772776014 0.00004
NM_014028.4(OSTM1):c.*3256A>G rs528019563 0.00004
NM_014028.4(OSTM1):c.*835G>T rs528945967 0.00004
NM_014028.4(OSTM1):c.67C>T (p.Leu23=) rs886060973 0.00004
NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) rs752132846 0.00004
NM_014042.3(ANAPC15):c.318+47C>T rs375298971 0.00004
NM_014053.4(FLVCR1):c.*8G>A rs886045929 0.00004
NM_014053.4(FLVCR1):c.-104G>A rs1195891357 0.00004
NM_014053.4(FLVCR1):c.-36G>A rs886045922 0.00004
NM_014363.6(SACS):c.*1200A>G rs558041482 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr) rs761189797 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.11576G>A (p.Arg3859His) rs149427669 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro) rs770677319 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg) rs761960824 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) rs374961109 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) rs764516788 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) rs202144442 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) rs775506976 0.00004
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00004
NM_014425.5(INVS):c.1117G>A (p.Val373Met) rs759162487 0.00004
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln) rs370549699 0.00004
NM_014425.5(INVS):c.1490G>A (p.Cys497Tyr) rs1296545586 0.00004
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln) rs761806481 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.2453C>T (p.Ala818Val) rs115324411 0.00004
NM_014425.5(INVS):c.286T>C (p.Phe96Leu) rs375188577 0.00004
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys) rs375774619 0.00004
NM_014780.5(CUL7):c.1749A>G (p.Leu583=) rs775748613 0.00004
NM_014780.5(CUL7):c.2146C>T (p.Arg716Trp) rs753407734 0.00004
NM_014780.5(CUL7):c.2200C>T (p.Arg734Cys) rs537793662 0.00004
NM_014780.5(CUL7):c.2767-14C>T rs754969453 0.00004
NM_014780.5(CUL7):c.2885G>A (p.Arg962Gln) rs761386869 0.00004
NM_014780.5(CUL7):c.3463-10T>C rs527664718 0.00004
NM_014780.5(CUL7):c.3463-15G>T rs757487546 0.00004
NM_014780.5(CUL7):c.3491G>A (p.Arg1164Gln) rs764000209 0.00004
NM_014780.5(CUL7):c.3605C>T (p.Ala1202Val) rs762601845 0.00004
NM_014780.5(CUL7):c.4417C>T (p.Leu1473=) rs201386557 0.00004
NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu) rs765173994 0.00004
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) rs750060978 0.00004
NM_014780.5(CUL7):c.4972G>A (p.Glu1658Lys) rs143717016 0.00004
NM_014797.3(ZBTB24):c.1498G>T (p.Ala500Ser) rs201725131 0.00004
NM_014797.3(ZBTB24):c.2050C>T (p.His684Tyr) rs200378080 0.00004
NM_014797.3(ZBTB24):c.750G>C (p.Gln250His) rs1008747624 0.00004
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln) rs200756109 0.00004
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg) rs761728678 0.00004
NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser) rs372414536 0.00004
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp) rs758494719 0.00004
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys) rs763039493 0.00004
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile) rs752334538 0.00004
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr) rs142108558 0.00004
NM_014956.5(CEP164):c.1860A>T (p.Gln620His) rs745707423 0.00004
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala) rs138449146 0.00004
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln) rs781063589 0.00004
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys) rs375310104 0.00004
NM_014956.5(CEP164):c.2066+4A>G rs577854690 0.00004
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp) rs541217768 0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr) rs773981726 0.00004
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=) rs766038184 0.00004
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys) rs374437787 0.00004
NM_014956.5(CEP164):c.499G>A (p.Val167Met) rs748619597 0.00004
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys) rs774763557 0.00004
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys) rs776372232 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_015102.5(NPHP4):c.1118A>G (p.Asn373Ser) rs556579725 0.00004
NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys) rs748941493 0.00004
NM_015102.5(NPHP4):c.1192C>A (p.Leu398Met) rs200378192 0.00004
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg) rs759608529 0.00004
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp) rs200800785 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys) rs780231735 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.1973G>A (p.Arg658Gln) rs767073232 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr) rs772593921 0.00004
NM_015102.5(NPHP4):c.2927C>T (p.Thr976Ile) rs756219438 0.00004
NM_015102.5(NPHP4):c.2947G>A (p.Ala983Thr) rs760239548 0.00004
NM_015102.5(NPHP4):c.2962G>A (p.Ala988Thr) rs770053255 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.3092G>C (p.Gly1031Ala) rs775526590 0.00004
NM_015102.5(NPHP4):c.319G>A (p.Val107Met) rs377738968 0.00004
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr) rs747313030 0.00004
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys) rs374387338 0.00004
NM_015102.5(NPHP4):c.356G>A (p.Arg119Gln) rs748420916 0.00004
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys) rs377686745 0.00004
NM_015102.5(NPHP4):c.3901C>T (p.Arg1301Cys) rs766610686 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu) rs750994795 0.00004
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg) rs762284065 0.00004
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val) rs370410995 0.00004
NM_015102.5(NPHP4):c.674-8T>G rs772596216 0.00004
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg) rs772219240 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015294.6(TRIM37):c.-244C>T rs991364571 0.00004
NM_015294.6(TRIM37):c.685T>A (p.Leu229Met) rs1334645336 0.00004
NM_015311.3(OBSL1):c.-21T>C rs946779356 0.00004
NM_015311.3(OBSL1):c.-59C>T rs994579179 0.00004
NM_015311.3(OBSL1):c.1195A>G (p.Ile399Val) rs756996265 0.00004
NM_015311.3(OBSL1):c.1237G>A (p.Glu413Lys) rs2292359 0.00004
NM_015311.3(OBSL1):c.1733C>T (p.Pro578Leu) rs373150189 0.00004
NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) rs778567613 0.00004
NM_015311.3(OBSL1):c.2858G>A (p.Arg953His) rs377679865 0.00004
NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser) rs374693718 0.00004
NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg) rs755507712 0.00004
NM_015311.3(OBSL1):c.3292C>T (p.Arg1098Cys) rs768636811 0.00004
NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp) rs200837976 0.00004
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) rs752693871 0.00004
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) rs769302847 0.00004
NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) rs755217589 0.00004
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) rs886055667 0.00004
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val) rs966474941 0.00004
NM_015404.4(WHRN):c.1555A>G (p.Met519Val) rs768008029 0.00004
NM_015404.4(WHRN):c.1626+8T>G rs547616329 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile) rs145323435 0.00004
NM_015474.4(SAMHD1):c.208+8C>T rs543987630 0.00004
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=) rs767971429 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg) rs374418323 0.00004
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr) rs138345857 0.00004
NM_015602.4(TOR1AIP1):c.272G>A (p.Arg91Gln) rs769686590 0.00004
NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe) rs759689850 0.00004
NM_015602.4(TOR1AIP1):c.619A>G (p.Ser207Gly) rs759786680 0.00004
NM_015602.4(TOR1AIP1):c.944C>T (p.Ser315Leu) rs201979642 0.00004
NM_015602.4(TOR1AIP1):c.983A>G (p.Gln328Arg) rs748527858 0.00004
NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser) rs1256966921 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly) rs779907319 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp) rs760316903 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala) rs553301895 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val) rs757464563 0.00004
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) rs115716101 0.00004
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala) rs750991615 0.00004
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp) rs560831644 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_015910.7(WDPCP):c.*582C>G rs184659805 0.00004
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr) rs747767839 0.00004
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met) rs374807784 0.00004
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713 0.00004
NM_015910.7(WDPCP):c.1624+6A>G rs370961530 0.00004
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val) rs141761524 0.00004
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser) rs764053825 0.00004
NM_016122.3(CEP83):c.1366G>A (p.Val456Met) rs183654043 0.00004
NM_016122.3(CEP83):c.1633C>T (p.Arg545Cys) rs374773620 0.00004
NM_016122.3(CEP83):c.50C>T (p.Pro17Leu) rs980569493 0.00004
NM_016219.5(MAN1B1):c.*191G>A rs1035235945 0.00004
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala) rs369551783 0.00004
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val) rs752395239 0.00004
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys) rs757690679 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala) rs575503145 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) rs773598909 0.00004
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) rs370047914 0.00004
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His) rs374249526 0.00004
NM_016239.4(MYO15A):c.6255C>T (p.Ala2085=) rs747357971 0.00004
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) rs376939609 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_016239.4(MYO15A):c.7502C>T (p.Thr2501Met) rs749920996 0.00004
NM_016239.4(MYO15A):c.7582A>G (p.Lys2528Glu) rs768607209 0.00004
NM_016239.4(MYO15A):c.7763G>A (p.Arg2588Gln) rs774663892 0.00004
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp) rs770104934 0.00004
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln) rs199900657 0.00004
NM_016239.4(MYO15A):c.9518-10G>A rs570587230 0.00004
NM_016239.4(MYO15A):c.9755A>G (p.Asn3252Ser) rs750974612 0.00004
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser) rs771499861 0.00004
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln) rs373148311 0.00004
NM_016373.4(WWOX):c.164T>C (p.Val55Ala) rs775944673 0.00004
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu) rs201008667 0.00004
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn) rs747575799 0.00004
NM_016373.4(WWOX):c.605T>G (p.Val202Gly) rs112636835 0.00004
NM_016373.4(WWOX):c.673C>G (p.Leu225Val) rs376040091 0.00004
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu) rs540386692 0.00004
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys) rs369715848 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) rs763118625 0.00004
NM_016464.5(TMEM138):c.377-3C>T rs774110963 0.00004
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) rs1056545955 0.00004
NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg) rs373922246 0.00004
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) rs370848091 0.00004
NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn) rs370759216 0.00004
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys) rs781700061 0.00004
NM_017433.5(MYO3A):c.*354A>G rs1034610594 0.00004
NM_017433.5(MYO3A):c.3085G>A (p.Asp1029Asn) rs56403976 0.00004
NM_017433.5(MYO3A):c.3337G>A (p.Val1113Ile) rs770255390 0.00004
NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter) rs749269594 0.00004
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val) rs201665162 0.00004
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His) rs760191095 0.00004
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His) rs542798158 0.00004
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978 0.00004
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser) rs372610527 0.00004
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met) rs769180238 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys) rs144959783 0.00004
NM_017739.4(POMGNT1):c.354+3C>T rs372425155 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_017755.6(NSUN2):c.1022-3C>T rs370183139 0.00004
NM_017777.4(MKS1):c.*415G>A rs750194631 0.00004
NM_017777.4(MKS1):c.*469C>T rs386465709 0.00004
NM_017777.4(MKS1):c.*594T>G rs371037402 0.00004
NM_017791.3(FLVCR2):c.*1588A>C rs764448107 0.00004
NM_017791.3(FLVCR2):c.*1672G>A rs569521792 0.00004
NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu) rs372243784 0.00004
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00004
NM_018075.5(ANO10):c.*164C>T rs1025591959 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018075.5(ANO10):c.592+3A>G rs775510692 0.00004
NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile) rs951343801 0.00004
NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val) rs886045758 0.00004
NM_018136.5(ASPM):c.10331+5G>A rs368843607 0.00004
NM_018136.5(ASPM):c.1474A>G (p.Ile492Val) rs149075351 0.00004
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys) rs763648822 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.441+10T>G rs587783242 0.00004
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys) rs368020945 0.00004
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.5923A>G (p.Ile1975Val) rs548744621 0.00004
NM_018136.5(ASPM):c.6046T>C (p.Leu2016=) rs772399724 0.00004
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) rs587783262 0.00004
NM_018249.6(CDK5RAP2):c.1139C>T (p.Ser380Leu) rs376412750 0.00004
NM_018249.6(CDK5RAP2):c.128-10C>G rs369751106 0.00004
NM_018249.6(CDK5RAP2):c.2087C>T (p.Ala696Val) rs369208545 0.00004
NM_018249.6(CDK5RAP2):c.2792G>A (p.Arg931Lys) rs373118539 0.00004
NM_018249.6(CDK5RAP2):c.3240T>G (p.Thr1080=) rs549287534 0.00004
NM_018249.6(CDK5RAP2):c.4393A>G (p.Met1465Val) rs201864352 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018319.4(TDP1):c.*1200G>A rs758892109 0.00004
NM_018319.4(TDP1):c.*37T>C rs374710359 0.00004
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) rs202165305 0.00004
NM_018389.5(SLC35C1):c.*1156C>T rs886048319 0.00004
NM_018389.5(SLC35C1):c.*1373G>C rs886048320 0.00004
NM_018389.5(SLC35C1):c.*244G>A rs886048316 0.00004
NM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr) rs371853940 0.00004
NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg) rs766282342 0.00004
NM_018389.5(SLC35C1):c.754C>G (p.Leu252Val) rs765414779 0.00004
NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser) rs759064697 0.00004
NM_018389.5(SLC35C1):c.934G>A (p.Val312Met) rs768749954 0.00004
NM_018451.5(CENPJ):c.*206A>G rs1011088030 0.00004
NM_018451.5(CENPJ):c.216T>G (p.Asp72Glu) rs34395671 0.00004
NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His) rs146950242 0.00004
NM_018451.5(CENPJ):c.865+12dup rs202014808 0.00004
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) rs183142477 0.00004
NM_018718.3(CEP41):c.*3451G>A rs144534675 0.00004
NM_018718.3(CEP41):c.*4385C>T rs556578226 0.00004
NM_018718.3(CEP41):c.*747G>A rs782582354 0.00004
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716 0.00004
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly) rs782048004 0.00004
NM_018718.3(CEP41):c.716T>C (p.Met239Thr) rs200882016 0.00004
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) rs200709703 0.00004
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg) rs782392521 0.00004
NM_018972.2(GDAP1):c.*2723T>C rs886063119 0.00004
NM_018972.4(GDAP1):c.*1372A>G rs896559706 0.00004
NM_018972.4(GDAP1):c.*860T>C rs554748057 0.00004
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=) rs764541059 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020347.4(LZTFL1):c.583G>C (p.Asp195His) rs781428652 0.00004
NM_020458.4(TTC7A):c.1015A>G (p.Lys339Glu) rs370815748 0.00004
NM_020458.4(TTC7A):c.1148A>G (p.Tyr383Cys) rs541556135 0.00004
NM_020458.4(TTC7A):c.1509C>T (p.Asp503=) rs753851181 0.00004
NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr) rs367596523 0.00004
NM_020458.4(TTC7A):c.2435G>A (p.Cys812Tyr) rs866127948 0.00004
NM_020458.4(TTC7A):c.290C>T (p.Pro97Leu) rs145350780 0.00004
NM_020458.4(TTC7A):c.378C>G (p.Ile126Met) rs995588757 0.00004
NM_020458.4(TTC7A):c.476T>C (p.Leu159Pro) rs775149640 0.00004
NM_020458.4(TTC7A):c.620C>T (p.Ala207Val) rs778981167 0.00004
NM_020458.4(TTC7A):c.752A>T (p.Asn251Ile) rs371810821 0.00004
NM_020458.4(TTC7A):c.908C>G (p.Pro303Arg) rs769792694 0.00004
NM_020631.5(PLEKHG5):c.*1087G>T rs761811347 0.00004
NM_020631.5(PLEKHG5):c.*816C>T rs1557731626 0.00004
NM_020631.6(PLEKHG5):c.*159G>A rs909809050 0.00004
NM_020631.6(PLEKHG5):c.*68C>T rs886046496 0.00004
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr) rs760113279 0.00004
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro) rs1020039192 0.00004
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780 0.00004
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys) rs184242303 0.00004
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556 0.00004
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921 0.00004
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser) rs201267486 0.00004
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887 0.00004
NM_020661.4(AICDA):c.*1296C>T rs748400078 0.00004
NM_020661.4(AICDA):c.*1684T>C rs1026369274 0.00004
NM_020661.4(AICDA):c.22C>T (p.Arg8Trp) rs763540826 0.00004
NM_020751.3(COG6):c.1738G>A (p.Ala580Thr) rs773262760 0.00004
NM_020751.3(COG6):c.556C>A (p.Leu186Met) rs781524524 0.00004
NM_020779.4(WDR35):c.*1219G>A rs1003005484 0.00004
NM_020779.4(WDR35):c.*2989C>T rs886055392 0.00004
NM_020779.4(WDR35):c.*3269G>A rs886055391 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1529G>A (p.Arg510His) rs763031783 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) rs780159239 0.00004
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val) rs370956261 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser) rs774898515 0.00004
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly) rs370873468 0.00004
NM_020779.4(WDR35):c.742G>A (p.Val248Ile) rs372968757 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_020964.3(EPG5):c.1396G>A (p.Val466Met) rs370669049 0.00004
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619 0.00004
NM_020964.3(EPG5):c.1579G>A (p.Ala527Thr) rs769029039 0.00004
NM_020964.3(EPG5):c.2176C>T (p.Leu726Phe) rs779316506 0.00004
NM_020964.3(EPG5):c.2187G>C (p.Gln729His) rs575623740 0.00004
NM_020964.3(EPG5):c.2350C>G (p.Gln784Glu) rs764959017 0.00004
NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu) rs201315023 0.00004
NM_020964.3(EPG5):c.3047G>A (p.Gly1016Asp) rs946420837 0.00004
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg) rs375017695 0.00004
NM_020964.3(EPG5):c.4265A>G (p.Tyr1422Cys) rs1020010664 0.00004
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met) rs746749336 0.00004
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu) rs375867560 0.00004
NM_020964.3(EPG5):c.484T>C (p.Tyr162His) rs371755239 0.00004
NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala) rs200776693 0.00004
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His) rs375463159 0.00004
NM_020964.3(EPG5):c.5735A>C (p.Lys1912Thr) rs754227425 0.00004
NM_020964.3(EPG5):c.5785A>G (p.Thr1929Ala) rs968834469 0.00004
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile) rs777008903 0.00004
NM_020964.3(EPG5):c.6049+4G>A rs200936655 0.00004
NM_020964.3(EPG5):c.6148G>A (p.Ala2050Thr) rs746878988 0.00004
NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys) rs775329245 0.00004
NM_020964.3(EPG5):c.6521C>T (p.Pro2174Leu) rs775158816 0.00004
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 0.00004
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val) rs201722679 0.00004
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile) rs768330083 0.00004
NM_020964.3(EPG5):c.6838G>A (p.Ala2280Thr) rs373340664 0.00004
NM_020964.3(EPG5):c.6877C>T (p.Arg2293Trp) rs180886291 0.00004
NM_020964.3(EPG5):c.7018A>C (p.Asn2340His) rs200080895 0.00004
NM_020964.3(EPG5):c.7082A>C (p.Glu2361Ala) rs374750937 0.00004
NM_020964.3(EPG5):c.968G>T (p.Ser323Ile) rs199732702 0.00004
NM_021252.5(RAB18):c.*3166C>T rs886046977 0.00004
NM_021252.5(RAB18):c.-41A>G rs770276006 0.00004
NM_021628.3(ALOXE3):c.1107C>T (p.Ser369=) rs201706020 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_021942.6(TRAPPC11):c.106G>C (p.Val36Leu) rs530405458 0.00004
NM_021942.6(TRAPPC11):c.1346C>T (p.Pro449Leu) rs781595103 0.00004
NM_021942.6(TRAPPC11):c.142C>G (p.Arg48Gly) rs150331292 0.00004
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu) rs779673117 0.00004
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn) rs752315503 0.00004
NM_021942.6(TRAPPC11):c.1816C>A (p.Gln606Lys) rs1171897657 0.00004
NM_021942.6(TRAPPC11):c.1823A>G (p.Asp608Gly) rs1448973560 0.00004
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met) rs759325090 0.00004
NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys) rs768000138 0.00004
NM_021942.6(TRAPPC11):c.2459C>T (p.Pro820Leu) rs752479011 0.00004
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln) rs567387885 0.00004
NM_021942.6(TRAPPC11):c.352G>A (p.Ala118Thr) rs577423330 0.00004
NM_021942.6(TRAPPC11):c.404T>A (p.Val135Asp) rs141880154 0.00004
NM_021942.6(TRAPPC11):c.660+3G>A rs377549138 0.00004
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser) rs555425016 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys) rs893985839 0.00004
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) rs758992649 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) rs978493820 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met) rs143579092 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) rs757076945 0.00004
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His) rs371220869 0.00004
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys) rs759327218 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly) rs1050244144 0.00004
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) rs200934541 0.00004
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) rs199961048 0.00004
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys) rs1221004929 0.00004
NM_022098.4(XPNPEP3):c.*3238A>G rs886057536 0.00004
NM_022098.4(XPNPEP3):c.*3756A>G rs924527994 0.00004
NM_022098.4(XPNPEP3):c.1049A>G (p.Asn350Ser) rs768828532 0.00004
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn) rs200459094 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu) rs765455172 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) rs200263980 0.00004
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp) rs375781856 0.00004
NM_022124.6(CDH23):c.205G>A (p.Val69Met) rs563224115 0.00004
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00004
NM_022124.6(CDH23):c.2368A>G (p.Met790Val) rs187827251 0.00004
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys) rs372387390 0.00004
NM_022124.6(CDH23):c.2560C>T (p.Arg854Cys) rs768340895 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00004
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) rs779133533 0.00004
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674 0.00004
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) rs749105554 0.00004
NM_022124.6(CDH23):c.4267G>A (p.Asp1423Asn) rs779009042 0.00004
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=) rs369559033 0.00004
NM_022124.6(CDH23):c.4431C>T (p.Gly1477=) rs763102268 0.00004
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys) rs555430482 0.00004
NM_022124.6(CDH23):c.4853C>T (p.Thr1618Met) rs371884850 0.00004
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) rs772995621 0.00004
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser) rs781280613 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) rs558551826 0.00004
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347 0.00004
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met) rs755121910 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.6139G>A (p.Gly2047Arg) rs750815841 0.00004
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile) rs749123528 0.00004
NM_022124.6(CDH23):c.6320G>A (p.Arg2107Gln) rs780094972 0.00004
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn) rs555684781 0.00004
NM_022124.6(CDH23):c.6665G>A (p.Arg2222His) rs534969331 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=) rs761613739 0.00004
NM_022124.6(CDH23):c.7569G>A (p.Pro2523=) rs533989797 0.00004
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) rs373649718 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) rs754761193 0.00004
NM_022124.6(CDH23):c.8064+13C>A rs374981343 0.00004
NM_022124.6(CDH23):c.8316C>T (p.Asn2772=) rs368145346 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.8624T>C (p.Ile2875Thr) rs776064526 0.00004
NM_022124.6(CDH23):c.8790G>A (p.Val2930=) rs753235775 0.00004
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652 0.00004
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726 0.00004
NM_022124.6(CDH23):c.9115C>T (p.Arg3039Trp) rs1026597345 0.00004
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln) rs776346516 0.00004
NM_022124.6(CDH23):c.9198+10G>A rs758760731 0.00004
NM_022124.6(CDH23):c.9511-7T>C rs531195164 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp) rs1434063011 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu) rs35207787 0.00004
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His) rs138611889 0.00004
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala) rs747135877 0.00004
NM_022168.4(IFIH1):c.1641+4T>C rs931264780 0.00004
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn) rs749942019 0.00004
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln) rs1266522773 0.00004
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His) rs562743627 0.00004
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp) rs200810568 0.00004
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter) rs750804689 0.00004
NM_022168.4(IFIH1):c.2622G>C (p.Leu874Phe) rs760588876 0.00004
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093 0.00004
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly) rs148623633 0.00004
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala) rs375449284 0.00004
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala) rs144853750 0.00004
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe) rs774782975 0.00004
NM_022168.4(IFIH1):c.769+4C>T rs748285029 0.00004
NM_022336.4(EDAR):c.*191C>T rs780909525 0.00004
NM_022336.4(EDAR):c.*639T>G rs750539909 0.00004
NM_022336.4(EDAR):c.-226T>C rs886054748 0.00004
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) rs759735008 0.00004
NM_022336.4(EDAR):c.991G>A (p.Asp331Asn) rs374079078 0.00004
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala) rs145709743 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu) rs774928119 0.00004
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) rs370575962 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.1407G>A (p.Leu469=) rs1351635868 0.00004
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His) rs917645867 0.00004
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile) rs541903338 0.00004
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln) rs145465454 0.00004
NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp) rs1237024427 0.00004
NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937 0.00004
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln) rs774950202 0.00004
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn) rs748144224 0.00004
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn) rs200802557 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_024596.5(MCPH1):c.*295A>C rs772797157 0.00004
NM_024596.5(MCPH1):c.*388G>C rs948143436 0.00004
NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln) rs779574623 0.00004
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=) rs587783732 0.00004
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024649.5(BBS1):c.1246G>T (p.Gly416Cys) rs202201758 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.163G>A (p.Val55Met) rs181765153 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) rs113822005 0.00004
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) rs778339359 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107 0.00004
NM_024649.5(BBS1):c.485C>T (p.Thr162Met) rs148576114 0.00004
NM_024649.5(BBS1):c.745G>A (p.Val249Ile) rs139145556 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024649.5(BBS1):c.908T>C (p.Val303Ala) rs750668484 0.00004
NM_024685.4(BBS10):c.*1164A>G rs922929416 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) rs144402299 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1882A>G (p.Met628Val) rs760505134 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_024753.5(TTC21B):c.*360C>A rs923460925 0.00004
NM_024753.5(TTC21B):c.*419C>A rs886055024 0.00004
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val) rs777733112 0.00004
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His) rs780307963 0.00004
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp) rs138937289 0.00004
NM_024753.5(TTC21B):c.1964G>A (p.Arg655Gln) rs748141161 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val) rs376308209 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.367C>T (p.Arg123Cys) rs775370323 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024753.5(TTC21B):c.569T>A (p.Met190Lys) rs200374808 0.00004
NM_024753.5(TTC21B):c.616G>A (p.Val206Met) rs370956667 0.00004
NM_024753.5(TTC21B):c.796-3T>C rs794727932 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg) rs778564417 0.00004
NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln) rs769577378 0.00004
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His) rs745554603 0.00004
NM_025074.7(FRAS1):c.*117C>T rs886059647 0.00004
NM_025074.7(FRAS1):c.*1741T>G rs772863115 0.00004
NM_025074.7(FRAS1):c.*2294G>A rs988779314 0.00004
NM_025074.7(FRAS1):c.10091A>G (p.His3364Arg) rs922004210 0.00004
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala) rs745919146 0.00004
NM_025074.7(FRAS1):c.10418C>T (p.Thr3473Ile) rs746290270 0.00004
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys) rs779521854 0.00004
NM_025074.7(FRAS1):c.10610G>A (p.Arg3537His) rs547089905 0.00004
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser) rs576835969 0.00004
NM_025074.7(FRAS1):c.11726C>T (p.Ala3909Val) rs367860092 0.00004
NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg) rs767882606 0.00004
NM_025074.7(FRAS1):c.3649-9A>C rs763538373 0.00004
NM_025074.7(FRAS1):c.371G>A (p.Arg124Gln) rs200764508 0.00004
NM_025074.7(FRAS1):c.4255G>A (p.Val1419Ile) rs570825961 0.00004
NM_025074.7(FRAS1):c.5027G>A (p.Gly1676Asp) rs1197038878 0.00004
NM_025074.7(FRAS1):c.517C>T (p.Arg173Trp) rs767674052 0.00004
NM_025074.7(FRAS1):c.5218-9C>T rs369761349 0.00004
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) rs373432682 0.00004
NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=) rs569422992 0.00004
NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=) rs765455808 0.00004
NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=) rs200879198 0.00004
NM_025074.7(FRAS1):c.847G>A (p.Gly283Arg) rs752345568 0.00004
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr) rs189205642 0.00004
NM_025074.7(FRAS1):c.8613C>G (p.Thr2871=) rs758106272 0.00004
NM_025074.7(FRAS1):c.8642C>T (p.Pro2881Leu) rs779660887 0.00004
NM_025074.7(FRAS1):c.8705C>T (p.Thr2902Ile) rs757116242 0.00004
NM_025074.7(FRAS1):c.8725A>T (p.Ile2909Phe) rs367742749 0.00004
NM_025114.4(CEP290):c.-96C>T rs528270888 0.00004
NM_025114.4(CEP290):c.1712-3T>C rs376688469 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala) rs969763835 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp) rs372321551 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln) rs562747993 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=) rs769060806 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val) rs532041890 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val) rs762417751 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp) rs769370948 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro) rs1006780282 0.00004
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) rs765709669 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile) rs1286484497 0.00004
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys) rs377367588 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_025132.4(WDR19):c.2786G>A (p.Arg929His) rs201685269 0.00004
NM_025132.4(WDR19):c.3184-3C>T rs750130004 0.00004
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn) rs376167184 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) rs760312911 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) rs886055644 0.00004
NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser) rs144212422 0.00004
NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys) rs759718991 0.00004
NM_025216.3(WNT10A):c.498C>T (p.Asp166=) rs143463683 0.00004
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) rs373722020 0.00004
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) rs142686129 0.00004
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 0.00004
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.61A>G (p.Ile21Val) rs1319616745 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_032119.4(ADGRV1):c.*17C>T rs767529084 0.00004
NM_032119.4(ADGRV1):c.11760C>T (p.Gly3920=) rs374165491 0.00004
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr) rs376911431 0.00004
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp) rs550815037 0.00004
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091 0.00004
NM_032119.4(ADGRV1):c.14043+7C>T rs563519322 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.15394G>A (p.Gly5132Arg) rs199579753 0.00004
NM_032119.4(ADGRV1):c.17667C>G (p.His5889Gln) rs56382582 0.00004
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) rs752223599 0.00004
NM_032119.4(ADGRV1):c.2330A>C (p.Glu777Ala) rs78627723 0.00004
NM_032119.4(ADGRV1):c.2590G>A (p.Gly864Arg) rs572283380 0.00004
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) rs201516498 0.00004
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) rs199735068 0.00004
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys) rs766007827 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.4851T>C (p.Thr1617=) rs368303691 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6795C>T (p.Leu2265=) rs760814922 0.00004
NM_032119.4(ADGRV1):c.7684C>A (p.Gln2562Lys) rs746214033 0.00004
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081 0.00004
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn) rs773527127 0.00004
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile) rs764887792 0.00004
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe) rs779295406 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032237.5(POMK):c.236C>G (p.Thr79Arg) rs773908820 0.00004
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386 0.00004
NM_032237.5(POMK):c.796G>A (p.Val266Met) rs543448796 0.00004
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile) rs759636820 0.00004
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val) rs377495463 0.00004
NM_032575.3(GLIS2):c.*1150C>T rs893552507 0.00004
NM_032575.3(GLIS2):c.*1553G>A rs1434276419 0.00004
NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu) rs751855769 0.00004
NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) rs138285254 0.00004
NM_032575.3(GLIS2):c.1539G>A (p.Pro513=) rs769088578 0.00004
NM_032575.3(GLIS2):c.546G>A (p.Leu182=) rs182526202 0.00004
NM_032575.3(GLIS2):c.801C>T (p.Tyr267=) rs527861451 0.00004
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu) rs1021016026 0.00004
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg) rs149577332 0.00004
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp) rs143607861 0.00004
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr) rs370963556 0.00004
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr) rs760437306 0.00004
NM_033028.5(BBS4):c.405+6T>C rs926942882 0.00004
NM_033028.5(BBS4):c.986C>T (p.Ala329Val) rs201987100 0.00004
NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser) rs773753270 0.00004
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) rs558224212 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666 0.00004
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006 0.00004
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_033064.5(ATCAY):c.*1761C>T rs777283516 0.00004
NM_033064.5(ATCAY):c.*939G>A rs886054419 0.00004
NM_033064.5(ATCAY):c.420C>T (p.Asp140=) rs548256146 0.00004
NM_033064.5(ATCAY):c.957C>T (p.Cys319=) rs370680121 0.00004
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg) rs188508043 0.00004
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys) rs745434375 0.00004
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr) rs778869156 0.00004
NM_033629.6(TREX1):c.473C>T (p.Ala158Val) rs762011967 0.00004
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu) rs531702332 0.00004
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu) rs140029866 0.00004
NM_052985.3(IFT122):c.-145T>A rs923805618 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_080628.3(TLDC2):c.*18-433T>C rs757372495 0.00004
NM_080628.3(TLDC2):c.*18-466G>A rs886056645 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys) rs201047740 0.00004
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys) rs142273664 0.00004
NM_133379.5(TTN):c.13153G>T (p.Asp4385Tyr) rs374639358 0.00004
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly) rs190193836 0.00004
NM_133379.5(TTN):c.15230C>T (p.Pro5077Leu) rs757243046 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) rs148030756 0.00004
NM_138691.3(TMC1):c.*302A>G rs1055361532 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_138694.4(PKHD1):c.*1027G>A rs960304347 0.00004
NM_138694.4(PKHD1):c.*2031A>G rs886061597 0.00004
NM_138694.4(PKHD1):c.*780A>G rs886061606 0.00004
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00004
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His) rs143915416 0.00004
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu) rs886061620 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 0.00004
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln) rs577541526 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961 0.00004
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala) rs1398646157 0.00004
NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) rs536456650 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.4363G>A (p.Ala1455Thr) rs760665951 0.00004
NM_138694.4(PKHD1):c.4364C>A (p.Ala1455Asp) rs775246362 0.00004
NM_138694.4(PKHD1):c.4835C>A (p.Thr1612Asn) rs754964877 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.6626T>C (p.Leu2209Ser) rs757627773 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_138694.4(PKHD1):c.8494G>T (p.Ala2832Ser) rs779751632 0.00004
NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg) rs146550270 0.00004
NM_139319.3(SLC17A8):c.*178G>A rs878879094 0.00004
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) rs138232575 0.00004
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) rs374159026 0.00004
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) rs369209552 0.00004
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) rs748076639 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) rs772786604 0.00004
NM_139343.3(BIN1):c.1674+3G>T rs1420732725 0.00004
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) rs201872255 0.00004
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) rs771112840 0.00004
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) rs763810794 0.00004
NM_144508.5(KNL1):c.143A>G (p.Asn48Ser) rs775359976 0.00004
NM_144508.5(KNL1):c.5853C>A (p.Asn1951Lys) rs527919489 0.00004
NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala) rs536166099 0.00004
NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln) rs779617849 0.00004
NM_144596.4(TTC8):c.114+6G>C rs370326452 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_145309.6(LRRC51):c.347G>A (p.Arg116His) rs145488053 0.00004
NM_145861.4(EDARADD):c.*1149G>A rs886046194 0.00004
NM_145861.4(EDARADD):c.*1303T>G rs780044781 0.00004
NM_145861.4(EDARADD):c.*1738A>G rs878897423 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) rs368314615 0.00004
NM_147196.3(TMIE):c.413C>T (p.Ala138Val) rs746977901 0.00004
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327 0.00004
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp) rs55835906 0.00004
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp) rs752232985 0.00004
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) rs371006338 0.00004
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser) rs370501865 0.00004
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00004
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) rs376537695 0.00004
NM_152443.3(RDH12):c.187+3A>G rs568731074 0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) rs765914942 0.00004
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr) rs376787473 0.00004
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) rs201158536 0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln) rs144843913 0.00004
NM_152618.3(BBS12):c.2094G>C (p.Gln698His) rs373082306 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala) rs915644000 0.00004
NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr) rs145715402 0.00004
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu) rs778210113 0.00004
NM_153240.5(NPHP3):c.1424A>G (p.Asp475Gly) rs773520877 0.00004
NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp) rs371254114 0.00004
NM_153240.5(NPHP3):c.1655C>G (p.Pro552Arg) rs375776149 0.00004
NM_153240.5(NPHP3):c.185G>A (p.Arg62His) rs1295666035 0.00004
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.2423A>C (p.Lys808Thr) rs763361711 0.00004
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn) rs141073933 0.00004
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile) rs760355143 0.00004
NM_153240.5(NPHP3):c.3601G>A (p.Glu1201Lys) rs529119466 0.00004
NM_153240.5(NPHP3):c.394-18C>G rs886038737 0.00004
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) rs771832737 0.00004
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611 0.00004
NM_153676.4(USH1C):c.540C>T (p.Leu180=) rs145510974 0.00004
NM_153676.4(USH1C):c.579+8C>T rs368634906 0.00004
NM_153676.4(USH1C):c.781G>A (p.Val261Ile) rs749119650 0.00004
NM_153676.4(USH1C):c.864T>G (p.Ile288Met) rs754717329 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_153717.3(EVC):c.*254G>A rs557237233 0.00004
NM_153717.3(EVC):c.*2593C>T rs943646882 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) rs751068367 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn) rs776107451 0.00004
NM_170784.3(MKKS):c.202T>G (p.Leu68Val) rs200836375 0.00004
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 0.00004
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 0.00004
NM_173477.5(USH1G):c.*1154T>A rs1475669077 0.00004
NM_173477.5(USH1G):c.*1922A>G rs868650355 0.00004
NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser) rs368211870 0.00004
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) rs746996270 0.00004
NM_174878.3(CLRN1):c.*1032T>C rs564545961 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe) rs201625237 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_176824.3(BBS7):c.*605G>A rs886059051 0.00004
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile) rs534408910 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn) rs750276510 0.00004
NM_176824.3(BBS7):c.974A>G (p.Glu325Gly) rs1255872676 0.00004
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile) rs372172665 0.00004
NM_178170.3(NEK8):c.1251C>T (p.Ser417=) rs149239987 0.00004
NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu) rs149987249 0.00004
NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg) rs754159776 0.00004
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) rs147625932 0.00004
NM_178170.3(NEK8):c.2066C>T (p.Pro689Leu) rs777112980 0.00004
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) rs199621354 0.00004
NM_178170.3(NEK8):c.269A>G (p.Glu90Gly) rs779113821 0.00004
NM_178170.3(NEK8):c.801C>T (p.Thr267=) rs754756615 0.00004
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys) rs776816480 0.00004
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro) rs774759366 0.00004
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met) rs778034684 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp) rs371013745 0.00004
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg) rs780693119 0.00004
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg) rs76410834 0.00004
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu) rs780637080 0.00004
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His) rs190032752 0.00004
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu) rs772000149 0.00004
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387 0.00004
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu) rs148036239 0.00004
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys) rs762119902 0.00004
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile) rs1007433720 0.00004
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His) rs148248006 0.00004
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys) rs371375804 0.00004
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln) rs745701031 0.00004
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val) rs767978898 0.00004
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala) rs534678815 0.00004
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys) rs780258342 0.00004
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr) rs765800192 0.00004
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys) rs757086609 0.00004
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931 0.00004
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln) rs776100963 0.00004
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His) rs753544584 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln) rs367925174 0.00004
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931 0.00004
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser) rs767508394 0.00004
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu) rs145085256 0.00004
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His) rs746220387 0.00004
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279 0.00004
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala) rs146618884 0.00004
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser) rs868377407 0.00004
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr) rs143594709 0.00004
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730 0.00004
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln) rs774558249 0.00004
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile) rs563568189 0.00004
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp) rs140903556 0.00004
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile) rs769943110 0.00004
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg) rs752508132 0.00004
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His) rs777155965 0.00004
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser) rs778441411 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His) rs776733924 0.00004
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr) rs190781696 0.00004
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val) rs139077054 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val) rs746456193 0.00004
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys) rs769930534 0.00004
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861 0.00004
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223 0.00004
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln) rs200137670 0.00004
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln) rs369073682 0.00004
NM_182961.4(SYNE1):c.24977-1719A>G rs202030113 0.00004
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys) rs755199419 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe) rs757463285 0.00004
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met) rs759512753 0.00004
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu) rs191807870 0.00004
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592 0.00004
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu) rs747635401 0.00004
NM_182961.4(SYNE1):c.3186+4C>T rs747984490 0.00004
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg) rs149415204 0.00004
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val) rs765122984 0.00004
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val) rs200629713 0.00004
NM_182961.4(SYNE1):c.3670-4A>G rs377058395 0.00004
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln) rs774093065 0.00004
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp) rs200763530 0.00004
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728 0.00004
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala) rs377718960 0.00004
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val) rs767783076 0.00004
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln) rs760544014 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln) rs779239788 0.00004
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060 0.00004
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp) rs763781396 0.00004
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg) rs779891217 0.00004
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu) rs150249753 0.00004
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro) rs375773340 0.00004
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser) rs377180714 0.00004
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro) rs757960938 0.00004
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182 0.00004
NM_182961.4(SYNE1):c.888+4G>C rs749258298 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_194248.3(OTOF):c.*610C>T rs376374054 0.00004
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) rs750423841 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.4092C>G (p.Gly1364=) rs779854387 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile) rs146552124 0.00004
NM_194248.3(OTOF):c.5460C>T (p.Thr1820=) rs148749290 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_198428.3(BBS9):c.*337C>T rs1188169231 0.00004
NM_198428.3(BBS9):c.*406A>G rs748029581 0.00004
NM_198428.3(BBS9):c.-206T>G rs953412791 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1237G>A (p.Val413Ile) rs778518775 0.00004
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp) rs767170924 0.00004
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met) rs140675013 0.00004
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg) rs561404900 0.00004
NM_198428.3(BBS9):c.2215G>A (p.Ala739Thr) rs369881355 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00004
NM_198428.3(BBS9):c.2550C>A (p.Asp850Glu) rs768072201 0.00004
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr) rs938197989 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu) rs779169794 0.00004
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) rs771447042 0.00004
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896 0.00004
NM_198428.3(BBS9):c.702+6G>A rs777329822 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198428.3(BBS9):c.809G>C (p.Cys270Ser) rs763742314 0.00004
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg) rs377207430 0.00004
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) rs142786336 0.00004
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) rs62636286 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.2403G>A (p.Lys801=) rs568010290 0.00004
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu) rs368816923 0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00004
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln) rs764581378 0.00004
NM_201378.4(PLEC):c.52G>C (p.Val18Leu) rs1426734781 0.00004
NM_201384.3(PLEC):c.10007C>T (p.Thr3336Met) rs199950917 0.00004
NM_201384.3(PLEC):c.10124T>C (p.Met3375Thr) rs1417349294 0.00004
NM_201384.3(PLEC):c.10126C>T (p.Arg3376Cys) rs782455932 0.00004
NM_201384.3(PLEC):c.10381G>A (p.Gly3461Ser) rs376924341 0.00004
NM_201384.3(PLEC):c.10532G>A (p.Gly3511Asp) rs200972761 0.00004
NM_201384.3(PLEC):c.10553A>G (p.His3518Arg) rs369538885 0.00004
NM_201384.3(PLEC):c.10557G>C (p.Glu3519Asp) rs782217188 0.00004
NM_201384.3(PLEC):c.10637C>T (p.Ala3546Val) rs533151885 0.00004
NM_201384.3(PLEC):c.10726G>A (p.Gly3576Ser) rs781940520 0.00004
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser) rs782299720 0.00004
NM_201384.3(PLEC):c.10778C>T (p.Ser3593Leu) rs782707803 0.00004
NM_201384.3(PLEC):c.10792G>A (p.Glu3598Lys) rs782367633 0.00004
NM_201384.3(PLEC):c.10849C>T (p.Arg3617Cys) rs781877026 0.00004
NM_201384.3(PLEC):c.10930C>T (p.Arg3644Cys) rs781932676 0.00004
NM_201384.3(PLEC):c.11162G>A (p.Arg3721His) rs781986718 0.00004
NM_201384.3(PLEC):c.11275G>A (p.Asp3759Asn) rs781916673 0.00004
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val) rs368803763 0.00004
NM_201384.3(PLEC):c.11315G>A (p.Arg3772His) rs373965625 0.00004
NM_201384.3(PLEC):c.11365G>A (p.Glu3789Lys) rs782039368 0.00004
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr) rs541209817 0.00004
NM_201384.3(PLEC):c.11806G>A (p.Ala3936Thr) rs368314247 0.00004
NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile) rs782422260 0.00004
NM_201384.3(PLEC):c.11975G>A (p.Arg3992His) rs781830007 0.00004
NM_201384.3(PLEC):c.1223G>A (p.Cys408Tyr) rs782274727 0.00004
NM_201384.3(PLEC):c.12319C>T (p.Arg4107Cys) rs781972499 0.00004
NM_201384.3(PLEC):c.12586G>A (p.Asp4196Asn) rs373492441 0.00004
NM_201384.3(PLEC):c.12670G>A (p.Ala4224Thr) rs781292412 0.00004
NM_201384.3(PLEC):c.12710C>T (p.Ser4237Leu) rs782530213 0.00004
NM_201384.3(PLEC):c.1271G>A (p.Arg424Gln) rs199965040 0.00004
NM_201384.3(PLEC):c.12730C>T (p.Arg4244Cys) rs373846655 0.00004
NM_201384.3(PLEC):c.13201G>A (p.Asp4401Asn) rs782439392 0.00004
NM_201384.3(PLEC):c.13346C>T (p.Ala4449Val) rs782720210 0.00004
NM_201384.3(PLEC):c.13354C>T (p.Arg4452Cys) rs782371632 0.00004
NM_201384.3(PLEC):c.13459G>A (p.Ala4487Thr) rs781850956 0.00004
NM_201384.3(PLEC):c.13480C>T (p.Arg4494Cys) rs782402134 0.00004
NM_201384.3(PLEC):c.13505G>A (p.Arg4502His) rs782750785 0.00004
NM_201384.3(PLEC):c.13510G>A (p.Gly4504Ser) rs527486852 0.00004
NM_201384.3(PLEC):c.13522G>A (p.Ala4508Thr) rs782370917 0.00004
NM_201384.3(PLEC):c.1363G>A (p.Asp455Asn) rs576247373 0.00004
NM_201384.3(PLEC):c.1621G>A (p.Gly541Ser) rs369076875 0.00004
NM_201384.3(PLEC):c.1737+3G>A rs1014660191 0.00004
NM_201384.3(PLEC):c.1864G>T (p.Val622Leu) rs1356690324 0.00004
NM_201384.3(PLEC):c.2417G>A (p.Arg806His) rs782046742 0.00004
NM_201384.3(PLEC):c.2435T>C (p.Val812Ala) rs557539356 0.00004
NM_201384.3(PLEC):c.2542G>A (p.Glu848Lys) rs781977174 0.00004
NM_201384.3(PLEC):c.2720G>A (p.Arg907His) rs374310349 0.00004
NM_201384.3(PLEC):c.2768G>A (p.Arg923His) rs371122460 0.00004
NM_201384.3(PLEC):c.2833G>A (p.Gly945Ser) rs371683315 0.00004
NM_201384.3(PLEC):c.2845G>A (p.Glu949Lys) rs372173655 0.00004
NM_201384.3(PLEC):c.2852G>A (p.Arg951Gln) rs782775290 0.00004
NM_201384.3(PLEC):c.2867G>A (p.Arg956His) rs782714752 0.00004
NM_201384.3(PLEC):c.2977C>T (p.Arg993Trp) rs373993300 0.00004
NM_201384.3(PLEC):c.2996G>A (p.Cys999Tyr) rs200086907 0.00004
NM_201384.3(PLEC):c.3121G>A (p.Ala1041Thr) rs782655709 0.00004
NM_201384.3(PLEC):c.3125G>A (p.Arg1042Gln) rs191154069 0.00004
NM_201384.3(PLEC):c.3190C>T (p.Arg1064Cys) rs371358671 0.00004
NM_201384.3(PLEC):c.3289G>A (p.Gly1097Ser) rs201361172 0.00004
NM_201384.3(PLEC):c.337C>T (p.Arg113Cys) rs370564188 0.00004
NM_201384.3(PLEC):c.3589G>A (p.Val1197Met) rs3134600 0.00004
NM_201384.3(PLEC):c.3710C>T (p.Pro1237Leu) rs782350311 0.00004
NM_201384.3(PLEC):c.3784G>A (p.Gly1262Ser) rs782158050 0.00004
NM_201384.3(PLEC):c.4408G>A (p.Gly1470Arg) rs782341251 0.00004
NM_201384.3(PLEC):c.4451A>C (p.Glu1484Ala) rs782034460 0.00004
NM_201384.3(PLEC):c.4475C>T (p.Ala1492Val) rs782685705 0.00004
NM_201384.3(PLEC):c.4532G>A (p.Arg1511Gln) rs375947559 0.00004
NM_201384.3(PLEC):c.4585C>T (p.Arg1529Cys) rs781877289 0.00004
NM_201384.3(PLEC):c.4586G>A (p.Arg1529His) rs1057520714 0.00004
NM_201384.3(PLEC):c.464C>T (p.Ser155Leu) rs377048540 0.00004
NM_201384.3(PLEC):c.4720G>A (p.Ala1574Thr) rs914835478 0.00004
NM_201384.3(PLEC):c.4727C>T (p.Ala1576Val) rs782322130 0.00004
NM_201384.3(PLEC):c.4781G>A (p.Arg1594His) rs564954644 0.00004
NM_201384.3(PLEC):c.4835G>A (p.Arg1612Gln) rs1041351510 0.00004
NM_201384.3(PLEC):c.5021G>A (p.Arg1674Gln) rs782062918 0.00004
NM_201384.3(PLEC):c.5054G>A (p.Arg1685Gln) rs782726656 0.00004
NM_201384.3(PLEC):c.5333C>T (p.Ser1778Leu) rs782089722 0.00004
NM_201384.3(PLEC):c.536G>A (p.Arg179Gln) rs566549191 0.00004
NM_201384.3(PLEC):c.5380G>A (p.Gly1794Ser) rs782240621 0.00004
NM_201384.3(PLEC):c.5482C>T (p.Arg1828Trp) rs1475632975 0.00004
NM_201384.3(PLEC):c.5551G>A (p.Glu1851Lys) rs782074123 0.00004
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val) rs782360547 0.00004
NM_201384.3(PLEC):c.5590G>A (p.Glu1864Lys) rs782434552 0.00004
NM_201384.3(PLEC):c.5617G>A (p.Glu1873Lys) rs367715409 0.00004
NM_201384.3(PLEC):c.572G>A (p.Arg191His) rs1332680362 0.00004
NM_201384.3(PLEC):c.6017C>T (p.Ala2006Val) rs376537341 0.00004
NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val) rs781895825 0.00004
NM_201384.3(PLEC):c.6101G>A (p.Arg2034Gln) rs782125805 0.00004
NM_201384.3(PLEC):c.6146C>T (p.Ala2049Val) rs782448792 0.00004
NM_201384.3(PLEC):c.6223G>A (p.Val2075Met) rs782650726 0.00004
NM_201384.3(PLEC):c.6326G>A (p.Arg2109Gln) rs373775314 0.00004
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6376C>G (p.Gln2126Glu) rs782582930 0.00004
NM_201384.3(PLEC):c.6382C>T (p.Arg2128Trp) rs371501177 0.00004
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys) rs782305250 0.00004
NM_201384.3(PLEC):c.6442C>T (p.Arg2148Trp) rs559437791 0.00004
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys) rs200620255 0.00004
NM_201384.3(PLEC):c.6844C>T (p.Arg2282Trp) rs368433409 0.00004
NM_201384.3(PLEC):c.6914G>A (p.Arg2305Gln) rs532388907 0.00004
NM_201384.3(PLEC):c.6953C>T (p.Ala2318Val) rs377223579 0.00004
NM_201384.3(PLEC):c.6968C>T (p.Thr2323Met) rs550065687 0.00004
NM_201384.3(PLEC):c.7106A>C (p.Glu2369Ala) rs565837184 0.00004
NM_201384.3(PLEC):c.7259C>T (p.Thr2420Met) rs185064502 0.00004
NM_201384.3(PLEC):c.7313G>A (p.Arg2438Gln) rs781835780 0.00004
NM_201384.3(PLEC):c.7340G>A (p.Arg2447His) rs370145018 0.00004
NM_201384.3(PLEC):c.7393G>A (p.Glu2465Lys) rs782413821 0.00004
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His) rs369729231 0.00004
NM_201384.3(PLEC):c.7657G>A (p.Glu2553Lys) rs782571929 0.00004
NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln) rs782640329 0.00004
NM_201384.3(PLEC):c.7738C>T (p.Arg2580Trp) rs531396914 0.00004
NM_201384.3(PLEC):c.7739G>A (p.Arg2580Gln) rs782751670 0.00004
NM_201384.3(PLEC):c.7742G>A (p.Arg2581Gln) rs560763455 0.00004
NM_201384.3(PLEC):c.7765G>A (p.Glu2589Lys) rs782123609 0.00004
NM_201384.3(PLEC):c.7889G>A (p.Arg2630Gln) rs377016819 0.00004
NM_201384.3(PLEC):c.8018C>T (p.Ala2673Val) rs368335274 0.00004
NM_201384.3(PLEC):c.8237G>A (p.Arg2746Gln) rs781927726 0.00004
NM_201384.3(PLEC):c.8524G>A (p.Val2842Ile) rs782665391 0.00004
NM_201384.3(PLEC):c.8704C>T (p.Arg2902Trp) rs367949674 0.00004
NM_201384.3(PLEC):c.8771T>C (p.Ile2924Thr) rs782072514 0.00004
NM_201384.3(PLEC):c.8816G>A (p.Arg2939Gln) rs375208309 0.00004
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln) rs200176579 0.00004
NM_201384.3(PLEC):c.9079G>A (p.Ala3027Thr) rs768113059 0.00004
NM_201384.3(PLEC):c.9128C>T (p.Ala3043Val) rs774840288 0.00004
NM_201384.3(PLEC):c.9187G>A (p.Gly3063Ser) rs782820081 0.00004
NM_201384.3(PLEC):c.9220G>A (p.Ala3074Thr) rs369807832 0.00004
NM_201384.3(PLEC):c.922C>T (p.Pro308Ser) rs200480932 0.00004
NM_201384.3(PLEC):c.9238G>A (p.Glu3080Lys) rs369063949 0.00004
NM_201384.3(PLEC):c.9317G>A (p.Arg3106Lys) rs374190410 0.00004
NM_201384.3(PLEC):c.9394C>T (p.Arg3132Cys) rs370266957 0.00004
NM_201384.3(PLEC):c.9452G>A (p.Arg3151His) rs141002386 0.00004
NM_201384.3(PLEC):c.9481G>C (p.Gly3161Arg) rs372072627 0.00004
NM_201384.3(PLEC):c.9599G>A (p.Arg3200Gln) rs782232536 0.00004
NM_201384.3(PLEC):c.9659G>A (p.Arg3220Gln) rs371002664 0.00004
NM_201384.3(PLEC):c.9689C>T (p.Ala3230Val) rs782629920 0.00004
NM_203486.3(DLL3):c.1302C>T (p.Ala434=) rs750457185 0.00004
NM_203486.3(DLL3):c.915C>T (p.Tyr305=) rs372702131 0.00004
NM_203486.3(DLL3):c.969C>T (p.Asn323=) rs139638161 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_206933.4(USH2A):c.-305C>G rs1430551833 0.00004
NM_206933.4(USH2A):c.-355C>G rs868097748 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) rs185823130 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser) rs776876392 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.126C>T (p.Asn42=) rs774473277 0.00004
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala) rs755416914 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.13812-5T>C rs371583628 0.00004
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys) rs139997881 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys) rs754834155 0.00004
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu) rs758660532 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) rs753175395 0.00004
NM_206933.4(USH2A):c.15432C>T (p.Ser5144=) rs145362017 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) rs766038321 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101 0.00004
NM_206933.4(USH2A):c.2167+15A>G rs779599960 0.00004
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr) rs375656256 0.00004
NM_206933.4(USH2A):c.2726C>A (p.Pro909His) rs752748453 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) rs557642490 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) rs540537272 0.00004
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) rs752059469 0.00004
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His) rs770394440 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.6372A>T (p.Thr2124=) rs548332655 0.00004
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg) rs370643158 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.723T>C (p.Thr241=) rs571744403 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala) rs375987841 0.00004
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235 0.00004
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg) rs753212183 0.00004
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly) rs373107700 0.00004
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile) rs769479181 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His) rs1380261595 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_207361.6(FREM2):c.*2976A>G rs561278105 0.00004
NM_207361.6(FREM2):c.*4141T>G rs190214300 0.00004
NM_207361.6(FREM2):c.*4673C>T rs886050210 0.00004
NM_207361.6(FREM2):c.*551A>G rs181407336 0.00004
NM_207361.6(FREM2):c.*5812T>C rs1034339922 0.00004
NM_207361.6(FREM2):c.-33A>G rs368974586 0.00004
NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu) rs755744742 0.00004
NM_207361.6(FREM2):c.1395G>A (p.Pro465=) rs181720619 0.00004
NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr) rs183068418 0.00004
NM_207361.6(FREM2):c.3644C>T (p.Ala1215Val) rs368570563 0.00004
NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys) rs138283768 0.00004
NM_207361.6(FREM2):c.383C>T (p.Pro128Leu) rs114864077 0.00004
NM_207361.6(FREM2):c.38G>A (p.Arg13Gln) rs765718616 0.00004
NM_207361.6(FREM2):c.4657C>G (p.Pro1553Ala) rs184635412 0.00004
NM_207361.6(FREM2):c.4823G>A (p.Gly1608Asp) rs767651775 0.00004
NM_207361.6(FREM2):c.5276T>C (p.Leu1759Ser) rs750450348 0.00004
NM_207361.6(FREM2):c.5494C>A (p.Gln1832Lys) rs114087410 0.00004
NM_207361.6(FREM2):c.5519G>A (p.Arg1840Gln) rs201096621 0.00004
NM_207361.6(FREM2):c.632C>G (p.Pro211Arg) rs371834810 0.00004
NM_207361.6(FREM2):c.7216-15A>G rs759789024 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_213599.3(ANO5):c.1165T>C (p.Phe389Leu) rs886043042 0.00004
NM_213599.3(ANO5):c.1201T>C (p.Trp401Arg) rs149656183 0.00004
NM_213599.3(ANO5):c.280G>A (p.Ala94Thr) rs367731017 0.00004
NM_213599.3(ANO5):c.443G>T (p.Gly148Val) rs912120379 0.00004
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp) rs149040903 0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NM_213599.3(ANO5):c.653A>G (p.Tyr218Cys) rs548449293 0.00004
NM_213599.3(ANO5):c.803A>G (p.Asn268Ser) rs769560800 0.00004
NR_003051.4(RMRP):n.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr) rs754478568 0.00003
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) rs752592672 0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser) rs756912039 0.00003
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val) rs751466306 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833 0.00003
NM_000023.4(SGCA):c.551G>A (p.Arg184His) rs142169382 0.00003
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr) rs759284746 0.00003
NM_000057.4(BLM):c.-29C>T rs886051549 0.00003
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483 0.00003
NM_000057.4(BLM):c.1387G>A (p.Val463Ile) rs1028963834 0.00003
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg) rs747760482 0.00003
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr) rs765536045 0.00003
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 0.00003
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly) rs1279814185 0.00003
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626 0.00003
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg) rs762267785 0.00003
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser) rs770370129 0.00003
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg) rs768010078 0.00003
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857 0.00003
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397 0.00003
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891 0.00003
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) rs753800694 0.00003
NM_000057.4(BLM):c.820A>G (p.Asn274Asp) rs750551907 0.00003
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000070.3(CAPN3):c.*395G>C rs774343819 0.00003
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=) rs759384108 0.00003
NM_000070.3(CAPN3):c.1156C>T (p.Arg386Cys) rs919442493 0.00003
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996 0.00003
NM_000070.3(CAPN3):c.1768G>A (p.Val590Met) rs370809015 0.00003
NM_000070.3(CAPN3):c.1800+5G>A rs373194123 0.00003
NM_000070.3(CAPN3):c.1869G>C (p.Glu623Asp) rs1391429681 0.00003
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr) rs776827432 0.00003
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) rs752155690 0.00003
NM_000070.3(CAPN3):c.2282A>C (p.Gln761Pro) rs373995517 0.00003
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324 0.00003
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr) rs749697583 0.00003
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp) rs764247865 0.00003
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala) rs1159580160 0.00003
NM_000070.3(CAPN3):c.905C>T (p.Ser302Leu) rs1223779045 0.00003
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu) rs752483058 0.00003
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile) rs150952570 0.00003
NM_000082.4(ERCC8):c.472T>C (p.Leu158=) rs561001438 0.00003
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511 0.00003
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn) rs1031445351 0.00003
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) rs908274887 0.00003
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00003
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg) rs752494680 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys) rs761717909 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 0.00003
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057 0.00003
NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg) rs953446261 0.00003
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350 0.00003
NM_000123.4(ERCC5):c.212G>A (p.Arg71His) rs587778293 0.00003
NM_000123.4(ERCC5):c.2268G>C (p.Gln756His) rs777336956 0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.844G>A (p.Val282Ile) rs747651424 0.00003
NM_000123.4(ERCC5):c.876A>G (p.Ile292Met) rs193097418 0.00003
NM_000124.4(ERCC6):c.*1383T>G rs886047023 0.00003
NM_000124.4(ERCC6):c.*3356C>T rs563034452 0.00003
NM_000124.4(ERCC6):c.*388C>A rs886047029 0.00003
NM_000124.4(ERCC6):c.*38A>G rs756639495 0.00003
NM_000124.4(ERCC6):c.*3925A>G rs981190765 0.00003
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp) rs374490261 0.00003
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.2287-3T>C rs780652533 0.00003
NM_000124.4(ERCC6):c.2287-5C>T rs772880581 0.00003
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr) rs747941045 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000163.5(GHR):c.*1032T>C rs961035722 0.00003
NM_000163.5(GHR):c.486C>T (p.Val162=) rs773964952 0.00003
NM_000165.5(GJA1):c.365A>G (p.Asn122Ser) rs769704488 0.00003
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg) rs751263915 0.00003
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met) rs746002871 0.00003
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile) rs779224998 0.00003
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr) rs749314383 0.00003
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly) rs878853342 0.00003
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln) rs773307918 0.00003
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile) rs750399742 0.00003
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val) rs375259185 0.00003
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe) rs764280512 0.00003
NM_000208.4(INSR):c.*1591C>T rs545450279 0.00003
NM_000208.4(INSR):c.*3693G>A rs886054662 0.00003
NM_000208.4(INSR):c.*4379C>T rs886054659 0.00003
NM_000208.4(INSR):c.*4380G>A rs1016440018 0.00003
NM_000208.4(INSR):c.3571C>T (p.Arg1191Trp) rs886054686 0.00003
NM_000208.4(INSR):c.4028G>A (p.Arg1343Gln) rs753624268 0.00003
NM_000211.5(ITGB2):c.101G>A (p.Arg34Gln) rs140032296 0.00003
NM_000211.5(ITGB2):c.1678G>A (p.Gly560Arg) rs747266748 0.00003
NM_000211.5(ITGB2):c.1715C>T (p.Ala572Val) rs773732447 0.00003
NM_000211.5(ITGB2):c.1726G>A (p.Glu576Lys) rs145507744 0.00003
NM_000211.5(ITGB2):c.1778G>A (p.Arg593His) rs749255547 0.00003
NM_000211.5(ITGB2):c.178A>G (p.Ile60Val) rs781730372 0.00003
NM_000211.5(ITGB2):c.182G>A (p.Arg61His) rs752119939 0.00003
NM_000211.5(ITGB2):c.1943C>T (p.Pro648Leu) rs373963624 0.00003
NM_000211.5(ITGB2):c.2004G>C (p.Glu668Asp) rs565042973 0.00003
NM_000211.5(ITGB2):c.2051G>A (p.Arg684His) rs780361764 0.00003
NM_000211.5(ITGB2):c.2078G>A (p.Arg693Gln) rs200335681 0.00003
NM_000211.5(ITGB2):c.260C>G (p.Thr87Ser) rs754994927 0.00003
NM_000211.5(ITGB2):c.602C>T (p.Pro201Leu) rs372179082 0.00003
NM_000211.5(ITGB2):c.829G>A (p.Ala277Thr) rs752291593 0.00003
NM_000231.3(SGCG):c.1-3C>T rs373335254 0.00003
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu) rs752603127 0.00003
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser) rs747795143 0.00003
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys) rs570232197 0.00003
NM_000232.5(SGCB):c.68G>A (p.Arg23His) rs746363403 0.00003
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000243.3(MEFV):c.*1096A>T rs950693142 0.00003
NM_000243.3(MEFV):c.*797T>C rs552125584 0.00003
NM_000243.3(MEFV):c.*862A>C rs914879585 0.00003
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) rs377754606 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr) rs779558690 0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=) rs771061550 0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) rs876660997 0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) rs758628487 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) rs797001768 0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) rs759997694 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000243.3(MEFV):c.64G>A (p.Glu22Lys) rs145289162 0.00003
NM_000243.3(MEFV):c.833G>A (p.Arg278Gln) rs104895187 0.00003
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1810C>G (p.Leu604Val) rs201861645 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) rs146569329 0.00003
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) rs780045701 0.00003
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00003
NM_000260.4(MYO7A):c.*101G>A rs886048683 0.00003
NM_000260.4(MYO7A):c.-160G>A rs576789908 0.00003
NM_000260.4(MYO7A):c.-170C>T rs886048667 0.00003
NM_000260.4(MYO7A):c.-20G>A rs886048668 0.00003
NM_000260.4(MYO7A):c.1186G>A (p.Asp396Asn) rs375867186 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys) rs782364394 0.00003
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676 0.00003
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) rs886048670 0.00003
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355 0.00003
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339 0.00003
NM_000260.4(MYO7A):c.2427G>T (p.Gln809His) rs782650544 0.00003
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) rs781916427 0.00003
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His) rs1007895502 0.00003
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) rs868977760 0.00003
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) rs1357072694 0.00003
NM_000260.4(MYO7A):c.2920C>T (p.Arg974Trp) rs782582076 0.00003
NM_000260.4(MYO7A):c.3013G>A (p.Ala1005Thr) rs782471298 0.00003
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082 0.00003
NM_000260.4(MYO7A):c.3568C>T (p.Arg1190Trp) rs782011801 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308 0.00003
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345 0.00003
NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr) rs1956002675 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) rs370601111 0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) rs377391891 0.00003
NM_000260.4(MYO7A):c.440G>A (p.Arg147His) rs111033512 0.00003
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917 0.00003
NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His) rs771059248 0.00003
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420 0.00003
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg) rs372054499 0.00003
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012 0.00003
NM_000260.4(MYO7A):c.5162A>G (p.Tyr1721Cys) rs1174776498 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys) rs777954362 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.593-4G>A rs876657534 0.00003
NM_000260.4(MYO7A):c.6003G>A (p.Thr2001=) rs775879461 0.00003
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869 0.00003
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00003
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr) rs781857167 0.00003
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_000271.5(NPC1):c.-31G>A rs886053668 0.00003
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile) rs376741451 0.00003
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000271.5(NPC1):c.1756G>A (p.Glu586Lys) rs369753548 0.00003
NM_000271.5(NPC1):c.2130+10C>G rs776389852 0.00003
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp) rs766822145 0.00003
NM_000271.5(NPC1):c.2614A>G (p.Met872Val) rs769612789 0.00003
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476 0.00003
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300 0.00003
NM_000271.5(NPC1):c.2959A>C (p.Lys987Gln) rs969498640 0.00003
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) rs558264503 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000271.5(NPC1):c.3818A>G (p.Glu1273Gly) rs374032318 0.00003
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 0.00003
NM_000277.3(PAH):c.-66_-65del rs997821067 0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His) rs62507320 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000286.3(PEX12):c.*433T>C rs886052829 0.00003
NM_000286.3(PEX12):c.-405C>G rs886052834 0.00003
NM_000286.3(PEX12):c.191C>T (p.Thr64Ile) rs766393993 0.00003
NM_000286.3(PEX12):c.20A>G (p.His7Arg) rs143621995 0.00003
NM_000286.3(PEX12):c.236G>C (p.Ser79Thr) rs771507228 0.00003
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001 0.00003
NM_000286.3(PEX12):c.907G>A (p.Val303Met) rs777654572 0.00003
NM_000287.3(PEX6):c.-62C>A rs886061413 0.00003
NM_000287.4(PEX6):c.*168C>T rs886061410 0.00003
NM_000287.4(PEX6):c.1145T>G (p.Phe382Cys) rs762401493 0.00003
NM_000287.4(PEX6):c.1159A>G (p.Lys387Glu) rs1286993221 0.00003
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.1234-10C>T rs370661410 0.00003
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1495C>T (p.Leu499Phe) rs769207892 0.00003
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu) rs931068715 0.00003
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp) rs754790139 0.00003
NM_000287.4(PEX6):c.185C>T (p.Ala62Val) rs991131935 0.00003
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp) rs374278186 0.00003
NM_000287.4(PEX6):c.2788G>T (p.Val930Phe) rs756296074 0.00003
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 0.00003
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329 0.00003
NM_000287.4(PEX6):c.412G>A (p.Val138Met) rs763313055 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000287.4(PEX6):c.782C>T (p.Pro261Leu) rs753014991 0.00003
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr) rs368503571 0.00003
NM_000288.4(PEX7):c.*223T>A rs774681133 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.730G>A (p.Ala244Thr) rs375091907 0.00003
NM_000288.4(PEX7):c.803+5A>G rs759078908 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000302.4(PLOD1):c.*148C>G rs886045211 0.00003
NM_000302.4(PLOD1):c.-39G>T rs769995450 0.00003
NM_000302.4(PLOD1):c.1098-3C>T rs541901674 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 0.00003
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys) rs370790682 0.00003
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys) rs138698098 0.00003
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu) rs754569828 0.00003
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val) rs369696269 0.00003
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp) rs748646169 0.00003
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290 0.00003
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser) rs747393648 0.00003
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile) rs370498584 0.00003
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys) rs754650948 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000302.4(PLOD1):c.407G>A (p.Arg136His) rs148510973 0.00003
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys) rs780519821 0.00003
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe) rs777914756 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu) rs1056398577 0.00003
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met) rs879902079 0.00003
NM_000317.3(PTS):c.151C>T (p.His51Tyr) rs780284884 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000318.3(PEX2):c.*1047T>A rs886063133 0.00003
NM_000318.3(PEX2):c.*2920_*2922del rs746335104 0.00003
NM_000318.3(PEX2):c.*437T>C rs1210536989 0.00003
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys) rs147209403 0.00003
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln) rs199845625 0.00003
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) rs1266603500 0.00003
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864 0.00003
NM_000320.3(QDPR):c.118G>A (p.Val40Ile) rs769586091 0.00003
NM_000320.3(QDPR):c.176C>T (p.Ser59Leu) rs201345615 0.00003
NM_000320.3(QDPR):c.359A>G (p.His120Arg) rs148369556 0.00003
NM_000320.3(QDPR):c.35G>A (p.Arg12Gln) rs780483113 0.00003
NM_000320.3(QDPR):c.409G>A (p.Ala137Thr) rs778631854 0.00003
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) rs757483045 0.00003
NM_000329.3(RPE65):c.1198A>T (p.Thr400Ser) rs1645826225 0.00003
NM_000329.3(RPE65):c.1338+8A>G rs777211540 0.00003
NM_000329.3(RPE65):c.1366G>C (p.Glu456Gln) rs755805126 0.00003
NM_000329.3(RPE65):c.1387C>A (p.Pro463Thr) rs375358477 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser) rs771863086 0.00003
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) rs61752887 0.00003
NM_000329.3(RPE65):c.842C>G (p.Ser281Cys) rs753656894 0.00003
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000337.5(SGCD):c.-135C>T rs886060284 0.00003
NM_000337.6(SGCD):c.*3580G>A rs1214313359 0.00003
NM_000337.6(SGCD):c.-43-1G>A rs767016855 0.00003
NM_000337.6(SGCD):c.-44G>T rs727503420 0.00003
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly) rs752000538 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln) rs750459196 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.716C>T (p.Ala239Val) rs377153196 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.767C>T (p.Thr256Met) rs578056399 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) rs369810811 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) rs537643329 0.00003
NM_000360.4(TH):c.1237G>A (p.Asp413Asn) rs201996748 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.649G>A (p.Asp217Asn) rs371488205 0.00003
NM_000360.4(TH):c.779G>T (p.Arg260Leu) rs372142970 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000360.4(TH):c.91-853C>T rs756331878 0.00003
NM_000370.3(TTPA):c.*239C>T rs761554482 0.00003
NM_000370.3(TTPA):c.-18G>A rs764083716 0.00003
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys) rs368131865 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=) rs181889379 0.00003
NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys) rs747913174 0.00003
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=) rs1555532936 0.00003
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107 0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000414.4(HSD17B4):c.*235T>C rs553631151 0.00003
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) rs771009588 0.00003
NM_000414.4(HSD17B4):c.766A>G (p.Ile256Val) rs768345875 0.00003
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr) rs779675068 0.00003
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389 0.00003
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00003
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser) rs1322715021 0.00003
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) rs373614496 0.00003
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr) rs779975082 0.00003
NM_000441.2(SLC26A4):c.*1068T>C rs1017422930 0.00003
NM_000441.2(SLC26A4):c.*1982C>A rs138245836 0.00003
NM_000441.2(SLC26A4):c.*2307A>G rs576278412 0.00003
NM_000441.2(SLC26A4):c.*343C>A rs139104953 0.00003
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) rs397516425 0.00003
NM_000441.2(SLC26A4):c.2292G>A (p.Thr764=) rs139556627 0.00003
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp) rs775610413 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val) rs376883207 0.00003
NM_000466.3(PEX1):c.148G>A (p.Val50Ile) rs768702189 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala) rs200207576 0.00003
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00003
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys) rs547203417 0.00003
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000466.3(PEX1):c.3344A>G (p.Glu1115Gly) rs762474729 0.00003
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355 0.00003
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys) rs771535312 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00003
NM_000492.4(CFTR):c.*124_*125insC rs1554397824 0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.1199T>C (p.Phe400Ser) rs1325574209 0.00003
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu) rs748155731 0.00003
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser) rs777850419 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser) rs139054556 0.00003
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) rs397508210 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1585-19T>C rs778457306 0.00003
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser) rs1276867493 0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.180G>C (p.Glu60Asp) rs569426839 0.00003
NM_000492.4(CFTR):c.1907T>C (p.Leu636Pro) rs374702882 0.00003
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn) rs780526529 0.00003
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn) rs397508335 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.246G>A (p.Met82Ile) rs1159096947 0.00003
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys) rs397508381 0.00003
NM_000492.4(CFTR):c.2495G>A (p.Cys832Tyr) rs565589205 0.00003
NM_000492.4(CFTR):c.250T>C (p.Tyr84His) rs745756794 0.00003
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser) rs562851847 0.00003
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) rs149662778 0.00003
NM_000492.4(CFTR):c.2659A>C (p.Thr887Pro) rs770359007 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) rs397508443 0.00003
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys) rs779569793 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg) rs564165440 0.00003
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met) rs143120209 0.00003
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu) rs397508567 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln) rs763401376 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val) rs773852510 0.00003
NM_000492.4(CFTR):c.377G>T (p.Gly126Val) rs397508609 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.3933T>G (p.Ser1311Arg) rs962313398 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu) rs1397796355 0.00003
NM_000492.4(CFTR):c.511G>A (p.Val171Ile) rs745468219 0.00003
NM_000492.4(CFTR):c.53+4A>T rs372610364 0.00003
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) rs397508754 0.00003
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) rs748026786 0.00003
NM_000492.4(CFTR):c.634A>G (p.Met212Val) rs540269075 0.00003
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr) rs866473559 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp) rs773509355 0.00003
NM_000506.5(F2):c.*44G>T rs759287343 0.00003
NM_000506.5(F2):c.874+13G>A rs764029414 0.00003
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00003
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg) rs538153468 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_000553.6(WRN):c.106C>T (p.Arg36Trp) rs141495269 0.00003
NM_000553.6(WRN):c.1124A>C (p.Glu375Ala) rs975111123 0.00003
NM_000553.6(WRN):c.1296C>T (p.Asn432=) rs772082980 0.00003
NM_000553.6(WRN):c.1304C>T (p.Ser435Phe) rs750246326 0.00003
NM_000553.6(WRN):c.137T>C (p.Phe46Ser) rs772246871 0.00003
NM_000553.6(WRN):c.1504G>C (p.Gly502Arg) rs755548890 0.00003
NM_000553.6(WRN):c.1537G>C (p.Glu513Gln) rs772584887 0.00003
NM_000553.6(WRN):c.1563A>C (p.Glu521Asp) rs747825738 0.00003
NM_000553.6(WRN):c.1566T>G (p.Asp522Glu) rs751988233 0.00003
NM_000553.6(WRN):c.1576+5G>A rs552659656 0.00003
NM_000553.6(WRN):c.1652C>T (p.Pro551Leu) rs781107893 0.00003
NM_000553.6(WRN):c.172G>A (p.Asp58Asn) rs773803207 0.00003
NM_000553.6(WRN):c.1831A>G (p.Met611Val) rs762866297 0.00003
NM_000553.6(WRN):c.1892T>C (p.Ile631Thr) rs1306086684 0.00003
NM_000553.6(WRN):c.2078C>T (p.Ala693Val) rs760090174 0.00003
NM_000553.6(WRN):c.2098G>A (p.Val700Ile) rs1038838933 0.00003
NM_000553.6(WRN):c.2132G>A (p.Arg711Gln) rs750658657 0.00003
NM_000553.6(WRN):c.2185G>A (p.Gly729Ser) rs558054655 0.00003
NM_000553.6(WRN):c.2215G>A (p.Val739Ile) rs773337566 0.00003
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) rs17847568 0.00003
NM_000553.6(WRN):c.2371T>G (p.Cys791Gly) rs200169079 0.00003
NM_000553.6(WRN):c.2452G>A (p.Val818Ile) rs1410412694 0.00003
NM_000553.6(WRN):c.2560A>G (p.Arg854Gly) rs1434625727 0.00003
NM_000553.6(WRN):c.25A>G (p.Thr9Ala) rs757791580 0.00003
NM_000553.6(WRN):c.2944C>T (p.Pro982Ser) rs756832663 0.00003
NM_000553.6(WRN):c.2978G>A (p.Arg993His) rs370713742 0.00003
NM_000553.6(WRN):c.3464T>C (p.Val1155Ala) rs769961391 0.00003
NM_000553.6(WRN):c.373A>G (p.Lys125Glu) rs267607007 0.00003
NM_000553.6(WRN):c.3850C>T (p.Leu1284Phe) rs368876038 0.00003
NM_000553.6(WRN):c.3862G>A (p.Gly1288Ser) rs765259410 0.00003
NM_000553.6(WRN):c.3977A>G (p.Asn1326Ser) rs1304095043 0.00003
NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg) rs200403732 0.00003
NM_000553.6(WRN):c.4145G>A (p.Cys1382Tyr) rs761450405 0.00003
NM_000553.6(WRN):c.4178G>T (p.Gly1393Val) rs186424616 0.00003
NM_000553.6(WRN):c.4274C>T (p.Thr1425Met) rs143771120 0.00003
NM_000553.6(WRN):c.527G>T (p.Ser176Ile) rs748976035 0.00003
NM_000553.6(WRN):c.586C>T (p.Arg196Cys) rs375762379 0.00003
NM_000553.6(WRN):c.635A>G (p.Tyr212Cys) rs756966886 0.00003
NM_000553.6(WRN):c.644C>T (p.Thr215Ile) rs1160440215 0.00003
NM_000553.6(WRN):c.654+4C>T rs769275170 0.00003
NM_000553.6(WRN):c.654+5G>A rs776917867 0.00003
NM_000553.6(WRN):c.977G>A (p.Gly326Glu) rs143068173 0.00003
NM_000660.7(TGFB1):c.32T>A (p.Leu11Gln) rs867906741 0.00003
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met) rs764345289 0.00003
NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val) rs372972496 0.00003
NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp) rs762191036 0.00003
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys) rs201037400 0.00003
NM_000760.4(CSF3R):c.923G>A (p.Arg308His) rs148747030 0.00003
NM_000760.4(CSF3R):c.991G>A (p.Glu331Lys) rs748394788 0.00003
NM_000782.5(CYP24A1):c.*375A>G rs886056785 0.00003
NM_000782.5(CYP24A1):c.-118T>C rs886056792 0.00003
NM_000782.5(CYP24A1):c.-37C>A rs549112129 0.00003
NM_000782.5(CYP24A1):c.-50C>T rs886056791 0.00003
NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=) rs764982769 0.00003
NM_000782.5(CYP24A1):c.1353G>A (p.Ala451=) rs775504814 0.00003
NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=) rs73135773 0.00003
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 0.00003
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) rs371510438 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) rs1046723537 0.00003
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu) rs773892447 0.00003
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His) rs761927223 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) rs556715266 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp) rs762190195 0.00003
NM_001017420.3(ESCO2):c.*222T>C rs886062868 0.00003
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) rs776989189 0.00003
NM_001023570.4(IQCB1):c.1567+3A>G rs1403759372 0.00003
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) rs767295178 0.00003
NM_001023570.4(IQCB1):c.1681C>G (p.Gln561Glu) rs750584360 0.00003
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) rs1001594561 0.00003
NM_001023570.4(IQCB1):c.620T>C (p.Leu207Pro) rs764639627 0.00003
NM_001023570.4(IQCB1):c.62C>T (p.Pro21Leu) rs370459157 0.00003
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.730A>G (p.Ile244Val) rs1040002145 0.00003
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) rs141949168 0.00003
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) rs756776335 0.00003
NM_001023570.4(IQCB1):c.911A>G (p.Tyr304Cys) rs147164945 0.00003
NM_001038603.3(MARVELD2):c.*121C>T rs886060735 0.00003
NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=) rs376627126 0.00003
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=) rs149176039 0.00003
NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=) rs770894315 0.00003
NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val) rs767827863 0.00003
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) rs750078356 0.00003
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00003
NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn) rs770301033 0.00003
NM_001040167.2(LFNG):c.557A>G (p.Asp186Gly) rs753021502 0.00003
NM_001040167.2(LFNG):c.635G>A (p.Arg212Gln) rs760610052 0.00003
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser) rs771451811 0.00003
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956 0.00003
NM_001042472.3(ABHD12):c.191+15G>A rs369626505 0.00003
NM_001042545.2(LTBP4):c.2098C>T (p.Arg700Trp) rs758290097 0.00003
NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=) rs746458434 0.00003
NM_001042702.5(PJVK):c.-124G>A rs886055207 0.00003
NM_001042702.5(PJVK):c.212-12C>A rs199967536 0.00003
NM_001042702.5(PJVK):c.437G>A (p.Arg146His) rs369805509 0.00003
NM_001044385.3(TMEM237):c.*3697G>A rs761856568 0.00003
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr) rs776825848 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp) rs972949531 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly) rs771350638 0.00003
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr) rs772074875 0.00003
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_001044385.3(TMEM237):c.869+4A>G rs771107990 0.00003
NM_001048166.1(STIL):c.*883A>G rs181941312 0.00003
NM_001048166.1(STIL):c.-65C>G rs886046393 0.00003
NM_001048166.1(STIL):c.1628C>T (p.Ala543Val) rs746094772 0.00003
NM_001048166.1(STIL):c.2350A>T (p.Met784Leu) rs368689118 0.00003
NM_001048166.1(STIL):c.2855G>A (p.Ser952Asn) rs35447382 0.00003
NM_001048166.1(STIL):c.3754A>G (p.Ile1252Val) rs142210835 0.00003
NM_001048166.1(STIL):c.957T>C (p.Cys319=) rs767180130 0.00003
NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His) rs587780741 0.00003
NM_001048174.2(MUTYH):c.1045C>G (p.Leu349Val) rs1216396008 0.00003
NM_001048174.2(MUTYH):c.1163A>C (p.Gln388Pro) rs730881835 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) rs369410616 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp) rs144616312 0.00003
NM_001048174.2(MUTYH):c.184G>A (p.Val62Ile) rs375526246 0.00003
NM_001048174.2(MUTYH):c.253T>A (p.Trp85Arg) rs776719541 0.00003
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) rs587782683 0.00003
NM_001048174.2(MUTYH):c.282C>A (p.Asp94Glu) rs876660505 0.00003
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser) rs771641237 0.00003
NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg) rs1212933615 0.00003
NM_001048174.2(MUTYH):c.423G>C (p.Glu141Asp) rs764546111 0.00003
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu) rs587778538 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001077365.2(POMT1):c.-30G>A rs780382988 0.00003
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) rs756531223 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752 0.00003
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr) rs747903773 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127 0.00003
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.699+72T>C rs200780140 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001077418.2(TMEM231):c.-46G>A rs752769188 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn) rs769321473 0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln) rs1033608835 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079866.2(BCS1L):c.206G>A (p.Arg69His) rs538427220 0.00003
NM_001080476.3(GRXCR1):c.*69T>A rs796495255 0.00003
NM_001080476.3(GRXCR1):c.236G>A (p.Ser79Asn) rs886059416 0.00003
NM_001080476.3(GRXCR1):c.289G>A (p.Val97Ile) rs186041671 0.00003
NM_001080476.3(GRXCR1):c.551A>T (p.Glu184Val) rs886059417 0.00003
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys) rs778423082 0.00003
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001083961.2(WDR62):c.2566C>T (p.Arg856Cys) rs370558837 0.00003
NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr) rs144347678 0.00003
NM_001083961.2(WDR62):c.3536C>T (p.Ala1179Val) rs372642550 0.00003
NM_001083961.2(WDR62):c.3537G>A (p.Ala1179=) rs201341594 0.00003
NM_001083961.2(WDR62):c.3573C>T (p.Asp1191=) rs1054040 0.00003
NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val) rs587784559 0.00003
NM_001083961.2(WDR62):c.3810C>T (p.Thr1270=) rs765881142 0.00003
NM_001083961.2(WDR62):c.4296C>T (p.Leu1432=) rs765001215 0.00003
NM_001098484.3(SLC4A4):c.*2916A>G rs886059614 0.00003
NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys) rs201133749 0.00003
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 0.00003
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637 0.00003
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly) rs757846188 0.00003
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705 0.00003
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys) rs200114996 0.00003
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val) rs765545106 0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr) rs1314571093 0.00003
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser) rs940393676 0.00003
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156 0.00003
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu) rs187076847 0.00003
NM_001111.5(ADAR):c.2207G>A (p.Arg736His) rs147800502 0.00003
NM_001111.5(ADAR):c.2270+3G>T rs778624308 0.00003
NM_001111.5(ADAR):c.2437G>A (p.Ala813Thr) rs754179945 0.00003
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala) rs142456688 0.00003
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032 0.00003
NM_001111.5(ADAR):c.592G>A (p.Ala198Thr) rs764385471 0.00003
NM_001111.5(ADAR):c.625G>A (p.Gly209Arg) rs767095635 0.00003
NM_001111.5(ADAR):c.643G>A (p.Gly215Ser) rs751532191 0.00003
NM_001111.5(ADAR):c.746C>T (p.Ser249Leu) rs750380232 0.00003
NM_001122769.3(LCA5):c.*35del rs747368961 0.00003
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg) rs368131181 0.00003
NM_001127453.2(GSDME):c.1156G>A (p.Ala386Thr) rs371802634 0.00003
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) rs376564087 0.00003
NM_001127649.3(PEX26):c.*2155A>G rs773334209 0.00003
NM_001127649.3(PEX26):c.*662C>T rs1197932567 0.00003
NM_001127649.3(PEX26):c.710G>A (p.Arg237His) rs370821533 0.00003
NM_001127649.3(PEX26):c.725C>T (p.Ser242Phe) rs779828574 0.00003
NM_001127671.2(LIFR):c.*1643G>A rs1009323722 0.00003
NM_001127671.2(LIFR):c.*212T>C rs1350790157 0.00003
NM_001127671.2(LIFR):c.*2476G>T rs555848744 0.00003
NM_001127671.2(LIFR):c.*2746T>A rs1290128552 0.00003
NM_001127671.2(LIFR):c.*3753G>C rs1432917321 0.00003
NM_001127671.2(LIFR):c.*6226A>G rs1274222770 0.00003
NM_001127671.2(LIFR):c.*6564C>T rs566612340 0.00003
NM_001127671.2(LIFR):c.*972C>T rs1368133920 0.00003
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083 0.00003
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542 0.00003
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser) rs199505838 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732 0.00003
NM_001128178.3(NPHP1):c.1943C>G (p.Ala648Gly) rs779089046 0.00003
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp) rs765568261 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001128178.3(NPHP1):c.771+38G>T rs764086072 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001129.5(AEBP1):c.1141G>C (p.Glu381Gln) rs202186949 0.00003
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) rs765472161 0.00003
NM_001130987.2(DYSF):c.1577-1646C>T rs763227235 0.00003
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) rs765027098 0.00003
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln) rs749488054 0.00003
NM_001130987.2(DYSF):c.2216+6G>C rs747059895 0.00003
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys) rs377196032 0.00003
NM_001130987.2(DYSF):c.240-7C>T rs746083673 0.00003
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) rs146819460 0.00003
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) rs749542779 0.00003
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) rs370745710 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln) rs763925689 0.00003
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) rs758284713 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) rs748951363 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) rs759297236 0.00003
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029 0.00003
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu) rs767190885 0.00003
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) rs767889531 0.00003
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) rs766841136 0.00003
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His) rs758688467 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) rs367709130 0.00003
NM_001130987.2(DYSF):c.4755+10C>T rs139099979 0.00003
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys) rs758206608 0.00003
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) rs531935195 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp) rs369627849 0.00003
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) rs139267208 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00003
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001135022.2(ELMOD3):c.701C>T (p.Ala234Val) rs779560360 0.00003
NM_001139.3(ALOX12B):c.1276-13G>C rs370659573 0.00003
NM_001139.3(ALOX12B):c.1655-9G>A rs751773510 0.00003
NM_001139.3(ALOX12B):c.715A>G (p.Ile239Val) rs371937340 0.00003
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu) rs762178428 0.00003
NM_001145308.4(LRTOMT):c.-379T>C rs886048625 0.00003
NM_001145809.2(MYH14):c.*400T>C rs886054596 0.00003
NM_001145809.2(MYH14):c.*64G>A rs779130953 0.00003
NM_001145809.2(MYH14):c.*667G>A rs886054599 0.00003
NM_001145809.2(MYH14):c.1160C>T (p.Ala387Val) rs201762439 0.00003
NM_001145809.2(MYH14):c.1381C>T (p.Arg461Cys) rs752732851 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.1800C>T (p.Ala600=) rs745625855 0.00003
NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp) rs368372273 0.00003
NM_001145809.2(MYH14):c.3467+9T>G rs1378826651 0.00003
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.4107C>T (p.Ser1369=) rs372927021 0.00003
NM_001145809.2(MYH14):c.4539+10C>T rs561531825 0.00003
NM_001145809.2(MYH14):c.5303G>A (p.Arg1768Gln) rs368770587 0.00003
NM_001146079.2(CLDN14):c.-445G>A rs557217395 0.00003
NM_001146079.2(CLDN14):c.-46G>A rs779699092 0.00003
NM_001146079.2(CLDN14):c.-54G>A rs886057051 0.00003
NM_001146079.2(CLDN14):c.-82+2044A>C rs1430528784 0.00003
NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) rs763846537 0.00003
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu) rs143323381 0.00003
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) rs913893905 0.00003
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln) rs545480303 0.00003
NM_001161403.3(LIMS2):c.11+1305G>A rs991541495 0.00003
NM_001161403.3(LIMS2):c.181C>T (p.Arg61Trp) rs975509585 0.00003
NM_001161403.3(LIMS2):c.281A>G (p.Asn94Ser) rs766178392 0.00003
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val) rs746614706 0.00003
NM_001161403.3(LIMS2):c.509+3A>T rs746495081 0.00003
NM_001161403.3(LIMS2):c.535G>A (p.Glu179Lys) rs144449664 0.00003
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile) rs575987494 0.00003
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser) rs72653752 0.00003
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) rs770532500 0.00003
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly) rs72653766 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) rs72657700 0.00003
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) rs72664230 0.00003
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_001173990.3(TMEM216):c.*93T>C rs746881860 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001184.4(ATR):c.2503T>C (p.Leu835=) rs377134163 0.00003
NM_001184.4(ATR):c.3335A>G (p.Asp1112Gly) rs778004569 0.00003
NM_001184.4(ATR):c.3340A>G (p.Ile1114Val) rs781663208 0.00003
NM_001184.4(ATR):c.4407C>T (p.Thr1469=) rs201300027 0.00003
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267 0.00003
NM_001184.4(ATR):c.5305G>C (p.Glu1769Gln) rs376811787 0.00003
NM_001184.4(ATR):c.6877A>G (p.Ile2293Val) rs758772379 0.00003
NM_001184.4(ATR):c.7725G>A (p.Ala2575=) rs587783340 0.00003
NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) rs776999918 0.00003
NM_001194998.2(CEP152):c.3990-13G>T rs587783424 0.00003
NM_001194998.2(CEP152):c.4525A>G (p.Arg1509Gly) rs587783425 0.00003
NM_001194998.2(CEP152):c.4900C>T (p.Arg1634Cys) rs587783427 0.00003
NM_001194998.2(CEP152):c.930A>T (p.Ala310=) rs779255588 0.00003
NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) rs556609167 0.00003
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) rs886063858 0.00003
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) rs761666704 0.00003
NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs) rs1210114050 0.00003
NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln) rs781040735 0.00003
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) rs1192131861 0.00003
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu) rs1159971280 0.00003
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) rs769751880 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845 0.00003
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val) rs375873110 0.00003
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267 0.00003
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) rs370233833 0.00003
NM_001206999.2(CIT):c.1031G>T (p.Gly344Val) rs149806257 0.00003
NM_001254.4(CDC6):c.1184+10G>A rs563505524 0.00003
NM_001254.4(CDC6):c.845T>C (p.Val282Ala) rs779528702 0.00003
NM_001256317.3(TMPRSS3):c.*287C>T rs757369320 0.00003
NM_001256317.3(TMPRSS3):c.*540G>A rs144138830 0.00003
NM_001256317.3(TMPRSS3):c.*81C>T rs766378265 0.00003
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr) rs142317371 0.00003
NM_001267550.2(TTN):c.*636T>G rs886055214 0.00003
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys) rs374920916 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn) rs776913696 0.00003
NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln) rs576025689 0.00003
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu) rs370647845 0.00003
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr) rs373173599 0.00003
NM_001267550.2(TTN):c.102257G>C (p.Arg34086Thr) rs569650065 0.00003
NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys) rs750864230 0.00003
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) rs773984912 0.00003
NM_001267550.2(TTN):c.102823G>A (p.Val34275Ile) rs879063086 0.00003
NM_001267550.2(TTN):c.103364G>A (p.Arg34455His) rs756023873 0.00003
NM_001267550.2(TTN):c.103391A>C (p.Lys34464Thr) rs1559023019 0.00003
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala) rs183912990 0.00003
NM_001267550.2(TTN):c.103535C>T (p.Pro34512Leu) rs762629564 0.00003
NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg) rs544590023 0.00003
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His) rs550047610 0.00003
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr) rs573782418 0.00003
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys) rs768575577 0.00003
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg) rs761644963 0.00003
NM_001267550.2(TTN):c.104246G>A (p.Arg34749Gln) rs771716923 0.00003
NM_001267550.2(TTN):c.104359A>G (p.Lys34787Glu) rs769788281 0.00003
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=) rs397517790 0.00003
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro) rs368765896 0.00003
NM_001267550.2(TTN):c.104734G>A (p.Glu34912Lys) rs375542215 0.00003
NM_001267550.2(TTN):c.105301T>C (p.Ser35101Pro) rs759062212 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys) rs778207634 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) rs148865574 0.00003
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro) rs370094513 0.00003
NM_001267550.2(TTN):c.106094G>A (p.Gly35365Asp) rs778524334 0.00003
NM_001267550.2(TTN):c.106439A>G (p.His35480Arg) rs766337455 0.00003
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala) rs369870182 0.00003
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu) rs750660824 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.11359G>A (p.Ala3787Thr) rs779416521 0.00003
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.12813C>A (p.His4271Gln) rs373302409 0.00003
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile) rs756186781 0.00003
NM_001267550.2(TTN):c.13048G>A (p.Val4350Met) rs781206839 0.00003
NM_001267550.2(TTN):c.1330A>G (p.Ser444Gly) rs767156649 0.00003
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) rs761666344 0.00003
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly) rs756793304 0.00003
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) rs377754692 0.00003
NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met) rs756844952 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr) rs748155563 0.00003
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) rs760722200 0.00003
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser) rs774425875 0.00003
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met) rs369242073 0.00003
NM_001267550.2(TTN):c.187G>A (p.Ala63Thr) rs764892312 0.00003
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly) rs367868361 0.00003
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val) rs761041978 0.00003
NM_001267550.2(TTN):c.19715-1G>A rs767658044 0.00003
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val) rs369108292 0.00003
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) rs370671112 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp) rs907862282 0.00003
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr) rs770377168 0.00003
NM_001267550.2(TTN):c.20397G>A (p.Arg6799=) rs376573256 0.00003
NM_001267550.2(TTN):c.20474C>T (p.Thr6825Ile) rs763006525 0.00003
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile) rs747479318 0.00003
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln) rs754476903 0.00003
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp) rs375219301 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.22240+7A>C rs368101794 0.00003
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly) rs372826489 0.00003
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn) rs267599060 0.00003
NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser) rs368750726 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2370+9A>G rs373443384 0.00003
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr) rs372143487 0.00003
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala) rs778611558 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp) rs898098652 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly) rs558169834 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.26C>T (p.Thr9Met) rs146123323 0.00003
NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile) rs766095051 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile) rs200207722 0.00003
NM_001267550.2(TTN):c.27988A>G (p.Ile9330Val) rs768696299 0.00003
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met) rs1060500516 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.28456A>G (p.Ile9486Val) rs1327402224 0.00003
NM_001267550.2(TTN):c.29062G>C (p.Ala9688Pro) rs749146795 0.00003
NM_001267550.2(TTN):c.29785G>A (p.Glu9929Lys) rs1204774037 0.00003
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile) rs535268419 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr) rs769915175 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val) rs766003250 0.00003
NM_001267550.2(TTN):c.3214G>A (p.Glu1072Lys) rs1263370770 0.00003
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr) rs774643116 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu) rs200732179 0.00003
NM_001267550.2(TTN):c.32722+3A>G rs1182220171 0.00003
NM_001267550.2(TTN):c.32888-3C>A rs397517544 0.00003
NM_001267550.2(TTN):c.32C>T (p.Pro11Leu) rs768624416 0.00003
NM_001267550.2(TTN):c.33664+6C>G rs1060500524 0.00003
NM_001267550.2(TTN):c.34072G>T (p.Val11358Phe) rs1227088008 0.00003
NM_001267550.2(TTN):c.35384A>C (p.Lys11795Thr) rs890825956 0.00003
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg) rs781317174 0.00003
NM_001267550.2(TTN):c.36281-9T>C rs760175676 0.00003
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser) rs779794774 0.00003
NM_001267550.2(TTN):c.36617-5T>A rs771059357 0.00003
NM_001267550.2(TTN):c.36680C>T (p.Pro12227Leu) rs767455362 0.00003
NM_001267550.2(TTN):c.38372G>C (p.Arg12791Pro) rs1237577240 0.00003
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg) rs574694398 0.00003
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.39928A>C (p.Lys13310Gln) rs1317959875 0.00003
NM_001267550.2(TTN):c.40511T>G (p.Leu13504Arg) rs776115575 0.00003
NM_001267550.2(TTN):c.41018C>T (p.Pro13673Leu) rs765821223 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr) rs144963490 0.00003
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.41818G>C (p.Glu13940Gln) rs1172846357 0.00003
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys) rs746667196 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001267550.2(TTN):c.43460G>A (p.Ser14487Asn) rs770233190 0.00003
NM_001267550.2(TTN):c.43538G>A (p.Ser14513Asn) rs557216748 0.00003
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr) rs745655055 0.00003
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly) rs1164246536 0.00003
NM_001267550.2(TTN):c.44117A>G (p.Asn14706Ser) rs878854309 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44525C>T (p.Thr14842Ile) rs370782364 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp) rs751606948 0.00003
NM_001267550.2(TTN):c.46516G>C (p.Asp15506His) rs755611206 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys) rs762723635 0.00003
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His) rs757663389 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr) rs886055272 0.00003
NM_001267550.2(TTN):c.47687T>C (p.Ile15896Thr) rs1411457226 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln) rs771224957 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala) rs745999025 0.00003
NM_001267550.2(TTN):c.48545A>C (p.Asp16182Ala) rs762913484 0.00003
NM_001267550.2(TTN):c.485T>A (p.Leu162Gln) rs145438758 0.00003
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn) rs757542062 0.00003
NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp) rs767768313 0.00003
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp) rs727503620 0.00003
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys) rs774137928 0.00003
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala) rs752204728 0.00003
NM_001267550.2(TTN):c.51079A>T (p.Ile17027Phe) rs770809063 0.00003
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala) rs565423253 0.00003
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile) rs748265704 0.00003
NM_001267550.2(TTN):c.53002+4C>G rs947716496 0.00003
NM_001267550.2(TTN):c.53791C>G (p.Gln17931Glu) rs759208053 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val) rs371424482 0.00003
NM_001267550.2(TTN):c.54819G>A (p.Pro18273=) rs373624715 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala) rs779623773 0.00003
NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys) rs532733393 0.00003
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser) rs368350844 0.00003
NM_001267550.2(TTN):c.56096G>A (p.Gly18699Glu) rs1060500533 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.56573G>A (p.Arg18858Gln) rs755848019 0.00003
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val) rs754264431 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) rs876658069 0.00003
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg) rs750947988 0.00003
NM_001267550.2(TTN):c.5761A>G (p.Ile1921Val) rs879100565 0.00003
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=) rs376930907 0.00003
NM_001267550.2(TTN):c.58073G>A (p.Arg19358His) rs1023184567 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.58609A>T (p.Thr19537Ser) rs750320421 0.00003
NM_001267550.2(TTN):c.5912C>G (p.Thr1971Ser) rs778898929 0.00003
NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln) rs142791877 0.00003
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val) rs1060500484 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile) rs760706351 0.00003
NM_001267550.2(TTN):c.60298G>A (p.Ala20100Thr) rs748929812 0.00003
NM_001267550.2(TTN):c.60407T>A (p.Leu20136His) rs1060500492 0.00003
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys) rs768427369 0.00003
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His) rs727503587 0.00003
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018 0.00003
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=) rs749180542 0.00003
NM_001267550.2(TTN):c.62779C>T (p.Arg20927Cys) rs547604540 0.00003
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His) rs775651612 0.00003
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg) rs575313522 0.00003
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys) rs762999586 0.00003
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala) rs183595734 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=) rs775357802 0.00003
NM_001267550.2(TTN):c.64048G>A (p.Val21350Ile) rs772377673 0.00003
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) rs749018114 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) rs368450785 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr) rs878854326 0.00003
NM_001267550.2(TTN):c.66099A>C (p.Glu22033Asp) rs768277403 0.00003
NM_001267550.2(TTN):c.66566T>C (p.Ile22189Thr) rs369934753 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His) rs537871205 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) rs1371471381 0.00003
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=) rs371678190 0.00003
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00003
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg) rs773592810 0.00003
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His) rs761566436 0.00003
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu) rs879056292 0.00003
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly) rs749655939 0.00003
NM_001267550.2(TTN):c.71719G>A (p.Ala23907Thr) rs1309139547 0.00003
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=) rs780920316 0.00003
NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr) rs568223521 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615 0.00003
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) rs794727456 0.00003
NM_001267550.2(TTN):c.73568C>A (p.Pro24523Gln) rs753557799 0.00003
NM_001267550.2(TTN):c.73859C>T (p.Pro24620Leu) rs370763285 0.00003
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser) rs776423108 0.00003
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr) rs372007344 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 0.00003
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys) rs368339903 0.00003
NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys) rs145437410 0.00003
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His) rs749274818 0.00003
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630 0.00003
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His) rs770512378 0.00003
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly) rs759278736 0.00003
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile) rs917984063 0.00003
NM_001267550.2(TTN):c.77652A>T (p.Glu25884Asp) rs748940985 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) rs377668457 0.00003
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp) rs373587432 0.00003
NM_001267550.2(TTN):c.78589C>A (p.Pro26197Thr) rs747052899 0.00003
NM_001267550.2(TTN):c.79281C>G (p.Asp26427Glu) rs766994654 0.00003
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) rs368484949 0.00003
NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile) rs886042786 0.00003
NM_001267550.2(TTN):c.8018A>G (p.Lys2673Arg) rs1060500389 0.00003
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) rs749194310 0.00003
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val) rs371498697 0.00003
NM_001267550.2(TTN):c.82241G>A (p.Arg27414Gln) rs763336230 0.00003
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys) rs377169807 0.00003
NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys) rs759095633 0.00003
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) rs761633407 0.00003
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu) rs72648220 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.85301A>C (p.Asn28434Thr) rs758519100 0.00003
NM_001267550.2(TTN):c.85428A>G (p.Gln28476=) rs777939514 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu) rs754207859 0.00003
NM_001267550.2(TTN):c.86560G>A (p.Val28854Met) rs769060885 0.00003
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) rs371539720 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.87632G>A (p.Arg29211His) rs370948914 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) rs786205371 0.00003
NM_001267550.2(TTN):c.89003A>T (p.Tyr29668Phe) rs760499831 0.00003
NM_001267550.2(TTN):c.89170G>A (p.Glu29724Lys) rs370918981 0.00003
NM_001267550.2(TTN):c.89727A>G (p.Lys29909=) rs1489769852 0.00003
NM_001267550.2(TTN):c.9067C>T (p.His3023Tyr) rs763992518 0.00003
NM_001267550.2(TTN):c.91342C>T (p.Arg30448Cys) rs756030714 0.00003
NM_001267550.2(TTN):c.91361T>C (p.Ile30454Thr) rs878985220 0.00003
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu) rs774107448 0.00003
NM_001267550.2(TTN):c.9163+5G>C rs775448783 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 0.00003
NM_001267550.2(TTN):c.9166C>T (p.Arg3056Cys) rs377207838 0.00003
NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val) rs756786292 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) rs727504923 0.00003
NM_001267550.2(TTN):c.93242C>T (p.Ala31081Val) rs1032232850 0.00003
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly) rs1176407616 0.00003
NM_001267550.2(TTN):c.9356C>T (p.Thr3119Ile) rs1444407818 0.00003
NM_001267550.2(TTN):c.93581A>G (p.Tyr31194Cys) rs543223589 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001267550.2(TTN):c.93886G>A (p.Val31296Ile) rs794729534 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.94187A>C (p.Glu31396Ala) rs768420352 0.00003
NM_001267550.2(TTN):c.9442C>T (p.Arg3148Cys) rs372196051 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.9520G>A (p.Asp3174Asn) rs984157404 0.00003
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr) rs1460359915 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys) rs72648261 0.00003
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr) rs745962752 0.00003
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg) rs747323263 0.00003
NM_001267550.2(TTN):c.96434G>A (p.Arg32145His) rs759948951 0.00003
NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser) rs975713554 0.00003
NM_001267550.2(TTN):c.9679A>T (p.Ser3227Cys) rs886042755 0.00003
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys) rs371249764 0.00003
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser) rs1024823449 0.00003
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) rs397517792 0.00003
NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr) rs778341120 0.00003
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu) rs201364164 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg) rs727505311 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.98119G>C (p.Asp32707His) rs1307768306 0.00003
NM_001267550.2(TTN):c.98278C>T (p.Leu32760Phe) rs1060500523 0.00003
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr) rs199647622 0.00003
NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln) rs775915301 0.00003
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala) rs201257063 0.00003
NM_001267550.2(TTN):c.98954C>A (p.Pro32985His) rs1387380794 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys) rs377456237 0.00003
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter) rs370101518 0.00003
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu) rs1432380664 0.00003
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) rs750627875 0.00003
NM_001283009.2(RTEL1):c.1225C>G (p.Pro409Ala) rs371603433 0.00003
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp) rs748434559 0.00003
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00003
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln) rs753779060 0.00003
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln) rs141423196 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=) rs371353556 0.00003
NM_001283009.2(RTEL1):c.2692C>T (p.Leu898Phe) rs555482478 0.00003
NM_001283009.2(RTEL1):c.2782T>G (p.Phe928Val) rs953069213 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser) rs776712596 0.00003
NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln) rs761907604 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3503C>T (p.Pro1168Leu) rs376829126 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys) rs752046445 0.00003
NM_001283009.2(RTEL1):c.600C>A (p.Ser200Arg) rs771785679 0.00003
NM_001283009.2(RTEL1):c.709G>A (p.Ala237Thr) rs1023502136 0.00003
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn) rs1036504358 0.00003
NM_001283009.2(RTEL1):c.785C>T (p.Ser262Leu) rs772044888 0.00003
NM_001283009.2(RTEL1):c.901G>A (p.Ala301Thr) rs201365106 0.00003
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) rs1168640996 0.00003
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) rs375472516 0.00003
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) rs556030955 0.00003
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) rs752363556 0.00003
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) rs372212501 0.00003
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) rs770913768 0.00003
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) rs767605168 0.00003
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) rs777965178 0.00003
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) rs767855931 0.00003
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) rs962979142 0.00003
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) rs375085808 0.00003
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) rs773960033 0.00003
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) rs747277541 0.00003
NM_001351132.2(PEX5):c.*1139T>C rs886049836 0.00003
NM_001351132.2(PEX5):c.-17+185T>C rs779168691 0.00003
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln) rs1405389869 0.00003
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys) rs772579298 0.00003
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His) rs375588538 0.00003
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val) rs752097814 0.00003
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His) rs141242661 0.00003
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp) rs148040746 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 0.00003
NM_001351132.2(PEX5):c.473G>A (p.Arg158His) rs140456601 0.00003
NM_001351132.2(PEX5):c.551+15C>T rs886049825 0.00003
NM_001351132.2(PEX5):c.552-3C>T rs368653314 0.00003
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys) rs756565648 0.00003
NM_001366722.1(GRIP1):c.*1149A>G rs144864808 0.00003
NM_001366722.1(GRIP1):c.1583A>G (p.Asn528Ser) rs374486330 0.00003
NM_001366722.1(GRIP1):c.1880A>G (p.Asp627Gly) rs200069844 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_001366722.1(GRIP1):c.3304T>A (p.Trp1102Arg) rs536657259 0.00003
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) rs1394199246 0.00003
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421 0.00003
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=) rs886052392 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu) rs768864900 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser) rs886052418 0.00003
NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) rs371283191 0.00003
NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) rs181087505 0.00003
NM_001378454.1(ALMS1):c.10304A>G (p.Lys3435Arg) rs187607395 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly) rs773130069 0.00003
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp) rs752623561 0.00003
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr) rs763907736 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg) rs375540445 0.00003
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser) rs28730862 0.00003
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00003
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser) rs371269253 0.00003
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His) rs750598025 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln) rs917280846 0.00003
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His) rs748624161 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn) rs773881728 0.00003
NM_001378454.1(ALMS1):c.1772A>T (p.Asp591Val) rs541118531 0.00003
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe) rs377341653 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His) rs756176783 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val) rs747750620 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys) rs373979607 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys) rs748479099 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.329T>C (p.Val110Ala) rs1193275022 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala) rs763680884 0.00003
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly) rs1399638135 0.00003
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270 0.00003
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg) rs750765175 0.00003
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val) rs749573527 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val) rs1085307684 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.4907C>T (p.Pro1636Leu) rs775768298 0.00003
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val) rs1438158545 0.00003
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp) rs764135516 0.00003
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu) rs1323058030 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala) rs765405386 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met) rs774831792 0.00003
NM_001378454.1(ALMS1):c.6658A>G (p.Asn2220Asp) rs1303642220 0.00003
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile) rs373004988 0.00003
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.8203G>A (p.Gly2735Ser) rs761136859 0.00003
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg) rs781370939 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser) rs370622410 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962 0.00003
NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=) rs1379770755 0.00003
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg) rs763466980 0.00003
NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val) rs200044412 0.00003
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878 0.00003
NM_001379180.1(ESRRB):c.*2912G>A rs886050808 0.00003
NM_001379286.1(ZNF423):c.1217G>A (p.Arg406Gln) rs375001883 0.00003
NM_001379286.1(ZNF423):c.1244T>A (p.Val415Glu) rs762926535 0.00003
NM_001379286.1(ZNF423):c.143G>A (p.Arg48His) rs759959155 0.00003
NM_001379286.1(ZNF423):c.1880G>A (p.Arg627Gln) rs201174934 0.00003
NM_001379286.1(ZNF423):c.2575A>G (p.Lys859Glu) rs148681787 0.00003
NM_001379286.1(ZNF423):c.2702C>T (p.Ala901Val) rs1051021187 0.00003
NM_001379286.1(ZNF423):c.308A>T (p.Asp103Val) rs756747278 0.00003
NM_001379286.1(ZNF423):c.3191A>G (p.Asn1064Ser) rs368041529 0.00003
NM_001379286.1(ZNF423):c.3301G>A (p.Ala1101Thr) rs144425413 0.00003
NM_001379286.1(ZNF423):c.3379G>A (p.Gly1127Ser) rs146352545 0.00003
NM_001379286.1(ZNF423):c.3394G>A (p.Glu1132Lys) rs548986682 0.00003
NM_001379286.1(ZNF423):c.3454C>T (p.Arg1152Cys) rs774292686 0.00003
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) rs775268714 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) rs759265787 0.00003
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) rs375847469 0.00003
NM_001382391.1(CSPP1):c.1975+4C>T rs779380282 0.00003
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) rs763911288 0.00003
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) rs780070875 0.00003
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) rs374169543 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) rs199738369 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) rs1421998303 0.00003
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) rs781579090 0.00003
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) rs770271054 0.00003
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) rs769726340 0.00003
NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr) rs766772151 0.00003
NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val) rs779957406 0.00003
NM_001384140.1(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862 0.00003
NM_001384140.1(PCDH15):c.146A>G (p.Glu49Gly) rs184026653 0.00003
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707 0.00003
NM_001384140.1(PCDH15):c.2082G>A (p.Arg694=) rs756484846 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg) rs778508372 0.00003
NM_001384140.1(PCDH15):c.4319C>T (p.Pro1440Leu) rs764173741 0.00003
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) rs727503368 0.00003
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs) rs760669176 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg) rs727503367 0.00003
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) rs370933593 0.00003
NM_001384140.1(PCDH15):c.986-11A>G rs374641355 0.00003
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00003
NM_001384474.1(LOXHD1):c.2174A>G (p.Asn725Ser) rs141137527 0.00003
NM_001384474.1(LOXHD1):c.2227A>G (p.Thr743Ala) rs759325484 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.2851G>A (p.Glu951Lys) rs138190875 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.3847G>A (p.Glu1283Lys) rs373541883 0.00003
NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys) rs185142131 0.00003
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00003
NM_001384474.1(LOXHD1):c.5929C>T (p.Arg1977Cys) rs886053824 0.00003
NM_001384474.1(LOXHD1):c.5931C>T (p.Arg1977=) rs748789925 0.00003
NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser) rs1005361609 0.00003
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00003
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) rs1364819556 0.00003
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) rs765341695 0.00003
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) rs1249405862 0.00003
NM_001393500.2(TOMT):c.*580C>T rs1416416166 0.00003
NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp) rs886048633 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_001395413.1(POR):c.821+2dup rs886062440 0.00003
NM_001510.4(GRID2):c.899G>A (p.Arg300His) rs201635818 0.00003
NM_001692.4(ATP6V1B1):c.1249-11C>T rs782803276 0.00003
NM_001692.4(ATP6V1B1):c.582T>C (p.Asn194=) rs376089214 0.00003
NM_001692.4(ATP6V1B1):c.612G>A (p.Ala204=) rs782233102 0.00003
NM_001692.4(ATP6V1B1):c.875C>T (p.Thr292Met) rs141815629 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_002109.6(HARS1):c.1105A>G (p.Met369Val) rs749991162 0.00003
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016 0.00003
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys) rs1204851184 0.00003
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn) rs771603866 0.00003
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912 0.00003
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys) rs138035024 0.00003
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898 0.00003
NM_002109.6(HARS1):c.695G>A (p.Arg232His) rs550778711 0.00003
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763 0.00003
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr) rs777214329 0.00003
NM_002109.6(HARS1):c.951+5G>T rs1473283139 0.00003
NM_002161.6(IARS1):c.1930G>A (p.Gly644Ser) rs202209545 0.00003
NM_002180.3(IGHMBP2):c.*379G>A rs533355737 0.00003
NM_002180.3(IGHMBP2):c.*415G>A rs886048609 0.00003
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394 0.00003
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe) rs375645505 0.00003
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His) rs369816416 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419 0.00003
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577 0.00003
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe) rs920864493 0.00003
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503 0.00003
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210 0.00003
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532 0.00003
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys) rs768670979 0.00003
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785 0.00003
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp) rs141836800 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904 0.00003
NM_002230.4(JUP):c.*567C>G rs886052914 0.00003
NM_002230.4(JUP):c.*573C>T rs886052913 0.00003
NM_002230.4(JUP):c.*670G>T rs782166986 0.00003
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187 0.00003
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.1235C>T (p.Thr412Met) rs782551865 0.00003
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296 0.00003
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00003
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met) rs372369061 0.00003
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) rs1914011596 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.332C>T (p.Thr111Ile) rs782080859 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002241.5(KCNJ10):c.*1855T>C rs886045405 0.00003
NM_002241.5(KCNJ10):c.*2675_*2676del rs886045398 0.00003
NM_002241.5(KCNJ10):c.*3180G>C rs758537153 0.00003
NM_002241.5(KCNJ10):c.*347C>T rs777312868 0.00003
NM_002241.5(KCNJ10):c.*3770C>T rs886045394 0.00003
NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln) rs200807361 0.00003
NM_002292.4(LAMB2):c.115G>A (p.Val39Met) rs541668395 0.00003
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln) rs572289637 0.00003
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp) rs144487632 0.00003
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp) rs748395355 0.00003
NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys) rs376660822 0.00003
NM_002292.4(LAMB2):c.2219G>A (p.Arg740His) rs781721930 0.00003
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe) rs746761674 0.00003
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln) rs536235346 0.00003
NM_002292.4(LAMB2):c.3026G>A (p.Arg1009His) rs776023210 0.00003
NM_002292.4(LAMB2):c.3044A>T (p.Glu1015Val) rs1269838719 0.00003
NM_002292.4(LAMB2):c.3330C>G (p.Phe1110Leu) rs145578707 0.00003
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln) rs751242273 0.00003
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His) rs1447799031 0.00003
NM_002292.4(LAMB2):c.4011T>C (p.His1337=) rs886058671 0.00003
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg) rs201519651 0.00003
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His) rs149601073 0.00003
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys) rs368339529 0.00003
NM_002292.4(LAMB2):c.661G>A (p.Val221Met) rs748711014 0.00003
NM_002292.4(LAMB2):c.76+10C>T rs370554848 0.00003
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro) rs373955878 0.00003
NM_002335.4(LRP5):c.1096G>A (p.Val366Met) rs367543496 0.00003
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile) rs769035778 0.00003
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser) rs754686025 0.00003
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) rs759063931 0.00003
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) rs752352965 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp) rs200484935 0.00003
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) rs755408035 0.00003
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) rs773984668 0.00003
NM_002473.6(MYH9):c.-153C>T rs886057485 0.00003
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) rs369581570 0.00003
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.1899C>T (p.Pro633=) rs749696998 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys) rs199971000 0.00003
NM_002473.6(MYH9):c.3453G>A (p.Thr1151=) rs574230328 0.00003
NM_002473.6(MYH9):c.4077C>T (p.Ile1359=) rs199693307 0.00003
NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly) rs373384951 0.00003
NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp) rs757547632 0.00003
NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys) rs143972348 0.00003
NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp) rs547770783 0.00003
NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) rs1205219578 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002473.6(MYH9):c.585G>A (p.Ala195=) rs374395918 0.00003
NM_002485.5(NBN):c.*485A>G rs886063165 0.00003
NM_002485.5(NBN):c.1255A>T (p.Asn419Tyr) rs730881849 0.00003
NM_002485.5(NBN):c.139G>A (p.Val47Met) rs876658446 0.00003
NM_002485.5(NBN):c.1789A>G (p.Ile597Val) rs864622167 0.00003
NM_002485.5(NBN):c.2002A>G (p.Thr668Ala) rs138913151 0.00003
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 0.00003
NM_002485.5(NBN):c.207A>G (p.Lys69=) rs754352569 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) rs767523514 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.335C>T (p.Pro112Leu) rs759723870 0.00003
NM_002485.5(NBN):c.37G>A (p.Gly13Arg) rs757112911 0.00003
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_002485.5(NBN):c.547G>A (p.Ala183Thr) rs151070415 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002485.5(NBN):c.750G>T (p.Arg250Ser) rs758852942 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_002617.4(PEX10):c.*16G>A rs886046146 0.00003
NM_002617.4(PEX10):c.*304C>T rs758081067 0.00003
NM_002617.4(PEX10):c.111G>T (p.Ala37=) rs1227962505 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.446C>T (p.Thr149Met) rs764948458 0.00003
NM_002617.4(PEX10):c.601-75G>A rs369211467 0.00003
NM_002617.4(PEX10):c.641G>A (p.Arg214His) rs368143757 0.00003
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup) rs1432526114 0.00003
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp) rs745818681 0.00003
NM_002617.4(PEX10):c.758G>A (p.Arg253His) rs750769868 0.00003
NM_002617.4(PEX10):c.773G>A (p.Arg258His) rs773147980 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002617.4(PEX10):c.979T>C (p.Ter327Arg) rs779199089 0.00003
NM_002618.4(PEX13):c.*1283C>G rs886056201 0.00003
NM_002618.4(PEX13):c.*1564C>G rs886056203 0.00003
NM_002618.4(PEX13):c.*1566A>T rs886056204 0.00003
NM_002618.4(PEX13):c.*2368T>C rs1033146733 0.00003
NM_002618.4(PEX13):c.*2642T>C rs886056209 0.00003
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys) rs550755703 0.00003
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) rs758388660 0.00003
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) rs752073595 0.00003
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725 0.00003
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp) rs753698277 0.00003
NM_002635.4(SLC25A3):c.*94T>C rs886049921 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002855.5(NECTIN1):c.431-5C>T rs559278757 0.00003
NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile) rs200513188 0.00003
NM_002857.4(PEX19):c.*1592G>A rs779471097 0.00003
NM_002857.4(PEX19):c.*2555T>G rs148123121 0.00003
NM_002857.4(PEX19):c.*896A>G rs886045445 0.00003
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys) rs370126224 0.00003
NM_002857.4(PEX19):c.670G>A (p.Val224Ile) rs372197333 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala) rs1272607089 0.00003
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu) rs746472158 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_002906.4(RDX):c.*855T>C rs752002973 0.00003
NM_003104.6(SORD):c.328C>T (p.Arg110Ter) rs745509632 0.00003
NM_003193.5(TBCE):c.*17T>C rs773370448 0.00003
NM_003193.5(TBCE):c.581C>T (p.Pro194Leu) rs182268162 0.00003
NM_003193.5(TBCE):c.71G>A (p.Arg24His) rs766386026 0.00003
NM_003193.5(TBCE):c.808C>T (p.Leu270=) rs200169233 0.00003
NM_003332.4(TYROBP):c.*154T>C rs554715202 0.00003
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) rs371150001 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala) rs199759408 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile) rs1392561922 0.00003
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys) rs755450815 0.00003
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) rs368577086 0.00003
NM_003619.4(PRSS12):c.1837+1G>A rs201470712 0.00003
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) rs754920304 0.00003
NM_003619.4(PRSS12):c.2088T>C (p.His696=) rs141365421 0.00003
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) rs757141803 0.00003
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter) rs1205071832 0.00003
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) rs200463608 0.00003
NM_003673.4(TCAP):c.111-13C>T rs773913117 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003701.4(TNFSF11):c.*554A>G rs200749870 0.00003
NM_003701.4(TNFSF11):c.-64C>G rs886050251 0.00003
NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) rs775866494 0.00003
NM_003823.4(TNFRSF6B):c.*75G>A rs1375849919 0.00003
NM_003823.4(TNFRSF6B):c.175C>T (p.Gln59Ter) rs747918186 0.00003
NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His) rs767090761 0.00003
NM_003823.4(TNFRSF6B):c.841C>T (p.Arg281Cys) rs768195916 0.00003
NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His) rs575430880 0.00003
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) rs376113816 0.00003
NM_003839.4(TNFRSF11A):c.784-5G>A rs572449155 0.00003
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) rs376116716 0.00003
NM_003896.4(ST3GAL5):c.1163T>C (p.Met388Thr) rs755800174 0.00003
NM_003896.4(ST3GAL5):c.1178C>T (p.Thr393Met) rs184227271 0.00003
NM_003896.4(ST3GAL5):c.20G>A (p.Gly7Asp) rs752086854 0.00003
NM_003896.4(ST3GAL5):c.282G>T (p.Met94Ile) rs758280289 0.00003
NM_003896.4(ST3GAL5):c.415G>A (p.Val139Met) rs377046345 0.00003
NM_003896.4(ST3GAL5):c.663-4A>G rs768252447 0.00003
NM_003896.4(ST3GAL5):c.82+5G>T rs1014430106 0.00003
NM_003896.4(ST3GAL5):c.849+15T>G rs768216151 0.00003
NM_003896.4(ST3GAL5):c.973T>G (p.Ser325Ala) rs146542693 0.00003
NM_004004.6(GJB2):c.-7G>A rs398123813 0.00003
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004086.3(COCH):c.1478-10T>C rs371990593 0.00003
NM_004100.5(EYA4):c.*3267C>A rs886061099 0.00003
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.970+5A>G rs886061089 0.00003
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg) rs760479580 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) rs772265082 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_004393.6(DAG1):c.1181G>A (p.Gly394Asp) rs1318377074 0.00003
NM_004393.6(DAG1):c.1556C>T (p.Pro519Leu) rs761585454 0.00003
NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser) rs372730352 0.00003
NM_004393.6(DAG1):c.1937C>T (p.Thr646Ile) rs745546522 0.00003
NM_004393.6(DAG1):c.1966G>A (p.Val656Met) rs1313375346 0.00003
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr) rs764063699 0.00003
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) rs775365808 0.00003
NM_004393.6(DAG1):c.2600C>T (p.Pro867Leu) rs199506692 0.00003
NM_004393.6(DAG1):c.2659C>T (p.Arg887Trp) rs148461041 0.00003
NM_004393.6(DAG1):c.634C>A (p.His212Asn) rs146574353 0.00003
NM_004403.3(GSDME):c.-216C>T rs886062228 0.00003
NM_004407.4(DMP1):c.370A>C (p.Lys124Gln) rs886059686 0.00003
NM_004407.4(DMP1):c.905G>T (p.Arg302Ile) rs376055601 0.00003
NM_004415.4(DSP):c.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu) rs779253041 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg) rs747326519 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_004525.3(LRP2):c.*1373A>T rs777022298 0.00003
NM_004525.3(LRP2):c.*824G>T rs886055075 0.00003
NM_004525.3(LRP2):c.11269C>T (p.Arg3757Trp) rs765588304 0.00003
NM_004525.3(LRP2):c.11328G>T (p.Trp3776Cys) rs758068621 0.00003
NM_004525.3(LRP2):c.11419A>G (p.Ser3807Gly) rs571830028 0.00003
NM_004525.3(LRP2):c.11590G>A (p.Asp3864Asn) rs151286117 0.00003
NM_004525.3(LRP2):c.11605G>A (p.Asp3869Asn) rs766415685 0.00003
NM_004525.3(LRP2):c.11685C>T (p.Arg3895=) rs760314666 0.00003
NM_004525.3(LRP2):c.11769G>A (p.Pro3923=) rs772055695 0.00003
NM_004525.3(LRP2):c.12385A>G (p.Asn4129Asp) rs1014040945 0.00003
NM_004525.3(LRP2):c.12590G>C (p.Gly4197Ala) rs140499844 0.00003
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=) rs774133574 0.00003
NM_004525.3(LRP2):c.13384C>T (p.Pro4462Ser) rs747641533 0.00003
NM_004525.3(LRP2):c.1388A>G (p.Asn463Ser) rs202154723 0.00003
NM_004525.3(LRP2):c.1435A>C (p.Asn479His) rs771749233 0.00003
NM_004525.3(LRP2):c.1501C>T (p.Arg501Trp) rs760488801 0.00003
NM_004525.3(LRP2):c.188C>T (p.Ala63Val) rs150829296 0.00003
NM_004525.3(LRP2):c.1978A>G (p.Thr660Ala) rs556737893 0.00003
NM_004525.3(LRP2):c.2450C>T (p.Thr817Met) rs147791791 0.00003
NM_004525.3(LRP2):c.2634T>C (p.Asp878=) rs776426915 0.00003
NM_004525.3(LRP2):c.3013A>G (p.Arg1005Gly) rs368148692 0.00003
NM_004525.3(LRP2):c.428-4A>G rs763525338 0.00003
NM_004525.3(LRP2):c.4979G>A (p.Arg1660His) rs373017594 0.00003
NM_004525.3(LRP2):c.667G>A (p.Gly223Ser) rs528193479 0.00003
NM_004525.3(LRP2):c.8508T>G (p.Ile2836Met) rs755215116 0.00003
NM_004525.3(LRP2):c.9128G>A (p.Arg3043His) rs143078432 0.00003
NM_004525.3(LRP2):c.9178G>A (p.Gly3060Arg) rs773430993 0.00003
NM_004525.3(LRP2):c.9221C>T (p.Thr3074Met) rs755568696 0.00003
NM_004525.3(LRP2):c.9426G>T (p.Lys3142Asn) rs745450394 0.00003
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) rs148896640 0.00003
NM_004560.4(ROR2):c.1799C>T (p.Ala600Val) rs143738026 0.00003
NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn) rs754476697 0.00003
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_004565.3(PEX14):c.*564C>T rs561807671 0.00003
NM_004565.3(PEX14):c.*7G>T rs367982022 0.00003
NM_004565.3(PEX14):c.1112G>A (p.Ser371Asn) rs1029768863 0.00003
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp) rs770183471 0.00003
NM_004565.3(PEX14):c.304G>A (p.Ala102Thr) rs753731034 0.00003
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513 0.00003
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004744.5(LRAT):c.*2453C>A rs886059171 0.00003
NM_004813.4(PEX16):c.*309G>C rs886048325 0.00003
NM_004813.4(PEX16):c.208C>T (p.Arg70Trp) rs886044340 0.00003
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg) rs761839307 0.00003
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln) rs1319561377 0.00003
NM_004813.4(PEX16):c.643C>G (p.Leu215Val) rs773150003 0.00003
NM_004813.4(PEX16):c.844C>T (p.Leu282Phe) rs199767958 0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) rs760865789 0.00003
NM_004836.7(EIF2AK3):c.1165+10T>C rs745614562 0.00003
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) rs765544171 0.00003
NM_004937.3(CTNS):c.*1249C>T rs886052876 0.00003
NM_004937.3(CTNS):c.*1397C>T rs886052878 0.00003
NM_004937.3(CTNS):c.*1502C>G rs377728246 0.00003
NM_004937.3(CTNS):c.*16T>C rs201198798 0.00003
NM_004937.3(CTNS):c.*1708A>G rs867189674 0.00003
NM_004937.3(CTNS):c.*2195G>A rs886052883 0.00003
NM_004937.3(CTNS):c.*2492G>A rs886052884 0.00003
NM_004937.3(CTNS):c.*2527G>A rs886052885 0.00003
NM_004937.3(CTNS):c.*280G>A rs200771636 0.00003
NM_004937.3(CTNS):c.-47A>C rs886052865 0.00003
NM_004999.4(MYO6):c.*3029A>G rs886061775 0.00003
NM_004999.4(MYO6):c.*3973A>G rs886061780 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) rs372399868 0.00003
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.406C>A (p.Arg136=) rs758630450 0.00003
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635 0.00003
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr) rs1222999452 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748 0.00003
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser) rs754730261 0.00003
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His) rs751381728 0.00003
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His) rs748159908 0.00003
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu) rs1266407564 0.00003
NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu) rs1383273883 0.00003
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser) rs954518752 0.00003
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu) rs760797227 0.00003
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu) rs565706367 0.00003
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) rs1292590118 0.00003
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) rs532205362 0.00003
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile) rs745960805 0.00003
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) rs749063652 0.00003
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala) rs376465188 0.00003
NM_005219.5(DIAPH1):c.621-4A>G rs772123724 0.00003
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn) rs749058990 0.00003
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) rs144058769 0.00003
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853 0.00003
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) rs141790888 0.00003
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) rs1211543560 0.00003
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) rs775257742 0.00003
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val) rs941012957 0.00003
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr) rs764093404 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) rs1457864707 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) rs777183693 0.00003
NM_005422.4(TECTA):c.1420C>T (p.Arg474Cys) rs756326790 0.00003
NM_005422.4(TECTA):c.1794G>C (p.Pro598=) rs570667892 0.00003
NM_005422.4(TECTA):c.3126G>A (p.Gly1042=) rs909980690 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_005422.4(TECTA):c.4205G>C (p.Cys1402Ser) rs774697277 0.00003
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) rs201946991 0.00003
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=) rs377039794 0.00003
NM_005422.4(TECTA):c.5878T>C (p.Tyr1960His) rs370139221 0.00003
NM_005422.4(TECTA):c.851G>A (p.Arg284His) rs886047837 0.00003
NM_005522.5(HOXA1):c.*250G>C rs886062256 0.00003
NM_005522.5(HOXA1):c.*331C>A rs886062255 0.00003
NM_005522.5(HOXA1):c.*345C>T rs557113073 0.00003
NM_005522.5(HOXA1):c.552C>A (p.His184Gln) rs768265195 0.00003
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 0.00003
NM_005529.7(HSPG2):c.10355+13G>A rs749712460 0.00003
NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His) rs376190109 0.00003
NM_005529.7(HSPG2):c.2027C>T (p.Pro676Leu) rs552160652 0.00003
NM_005529.7(HSPG2):c.3100G>A (p.Gly1034Ser) rs886046041 0.00003
NM_005529.7(HSPG2):c.4434C>T (p.Arg1478=) rs767789034 0.00003
NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=) rs745452531 0.00003
NM_005529.7(HSPG2):c.4899C>T (p.Ala1633=) rs775314207 0.00003
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) rs368801694 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_005529.7(HSPG2):c.5998-5G>A rs764410384 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=) rs752099132 0.00003
NM_005529.7(HSPG2):c.7610G>A (p.Arg2537His) rs752745046 0.00003
NM_005529.7(HSPG2):c.8026-10G>T rs377601366 0.00003
NM_005529.7(HSPG2):c.8882G>A (p.Arg2961His) rs202072683 0.00003
NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=) rs749580877 0.00003
NM_005529.7(HSPG2):c.9175C>T (p.Arg3059Trp) rs760017518 0.00003
NM_005529.7(HSPG2):c.9604G>A (p.Val3202Met) rs760284909 0.00003
NM_005529.7(HSPG2):c.9890-4T>G rs770388964 0.00003
NM_005548.3(KARS1):c.797T>C (p.Ile266Thr) rs762673443 0.00003
NM_005708.5(GPC6):c.*1800T>G rs886050357 0.00003
NM_005708.5(GPC6):c.*2852C>G rs886050360 0.00003
NM_005708.5(GPC6):c.-442C>T rs886050348 0.00003
NM_005708.5(GPC6):c.1162A>G (p.Ile388Val) rs144734105 0.00003
NM_005708.5(GPC6):c.1512C>T (p.Asp504=) rs776151903 0.00003
NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val) rs778074369 0.00003
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660 0.00003
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val) rs372101503 0.00003
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) rs777843655 0.00003
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys) rs536675100 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_005982.4(SIX1):c.822C>T (p.Pro274=) rs368353344 0.00003
NM_006005.3(WFS1):c.*605T>C rs886059538 0.00003
NM_006005.3(WFS1):c.*700C>A rs528424908 0.00003
NM_006005.3(WFS1):c.-106A>G rs868329184 0.00003
NM_006005.3(WFS1):c.-133G>T rs886059521 0.00003
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) rs942866942 0.00003
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) rs763020615 0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847 0.00003
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr) rs775216682 0.00003
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) rs566587586 0.00003
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) rs377102310 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys) rs566684294 0.00003
NM_006019.4(TCIRG1):c.1165+9C>T rs886048597 0.00003
NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr) rs537359796 0.00003
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile) rs753897523 0.00003
NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=) rs201017845 0.00003
NM_006019.4(TCIRG1):c.390C>T (p.Ala130=) rs750132812 0.00003
NM_006019.4(TCIRG1):c.990C>T (p.Pro330=) rs772355396 0.00003
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln) rs139138892 0.00003
NM_006208.3(ENPP1):c.*3450T>C rs886061081 0.00003
NM_006208.3(ENPP1):c.*3919C>T rs866475719 0.00003
NM_006208.3(ENPP1):c.1998G>A (p.Gln666=) rs140470927 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_006397.3(RNASEH2A):c.*50T>C rs199822158 0.00003
NM_006397.3(RNASEH2A):c.-25A>G rs886054235 0.00003
NM_006397.3(RNASEH2A):c.407C>G (p.Thr136Ser) rs1459366188 0.00003
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile) rs1033081366 0.00003
NM_006397.3(RNASEH2A):c.502G>T (p.Ala168Ser) rs772940870 0.00003
NM_006397.3(RNASEH2A):c.542G>A (p.Cys181Tyr) rs201041092 0.00003
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.752A>G (p.Asp251Gly) rs768983249 0.00003
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly) rs770898096 0.00003
NM_006397.3(RNASEH2A):c.866T>G (p.Leu289Arg) rs745764952 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00003
NM_006432.5(NPC2):c.169G>A (p.Val57Ile) rs774036281 0.00003
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg) rs930750290 0.00003
NM_006642.5(SDCCAG8):c.-131T>C rs886046327 0.00003
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His) rs748784645 0.00003
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile) rs565662622 0.00003
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg) rs371805116 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=) rs764668676 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp) rs765751496 0.00003
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg) rs147807589 0.00003
NM_006721.4(ADK):c.259A>G (p.Ile87Val) rs201734294 0.00003
NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys) rs949341803 0.00003
NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro) rs576205050 0.00003
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330 0.00003
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly) rs770788678 0.00003
NM_006846.4(SPINK5):c.*78A>G rs774183421 0.00003
NM_006846.4(SPINK5):c.1034A>G (p.Lys345Arg) rs1461539646 0.00003
NM_006846.4(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282 0.00003
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys) rs771426270 0.00003
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn) rs754319450 0.00003
NM_006846.4(SPINK5):c.1903T>C (p.Phe635Leu) rs373738148 0.00003
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu) rs191160111 0.00003
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His) rs182767534 0.00003
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg) rs758718125 0.00003
NM_006846.4(SPINK5):c.2288A>T (p.Asn763Ile) rs80019167 0.00003
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys) rs774381522 0.00003
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys) rs188030639 0.00003
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659 0.00003
NM_006846.4(SPINK5):c.313A>G (p.Arg105Gly) rs371334869 0.00003
NM_006846.4(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169 0.00003
NM_006846.4(SPINK5):c.586A>G (p.Met196Val) rs757374670 0.00003
NM_006892.4(DNMT3B):c.-105C>T rs767131541 0.00003
NM_006892.4(DNMT3B):c.1016G>T (p.Gly339Val) rs754921958 0.00003
NM_006892.4(DNMT3B):c.101C>T (p.Ser34Leu) rs766920119 0.00003
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=) rs564154904 0.00003
NM_006892.4(DNMT3B):c.1195C>T (p.Leu399Phe) rs373908368 0.00003
NM_006892.4(DNMT3B):c.128C>T (p.Thr43Ile) rs757214677 0.00003
NM_006892.4(DNMT3B):c.143G>A (p.Gly48Asp) rs762185930 0.00003
NM_006892.4(DNMT3B):c.1586C>T (p.Pro529Leu) rs767169378 0.00003
NM_006892.4(DNMT3B):c.1630G>A (p.Val544Met) rs775688885 0.00003
NM_006892.4(DNMT3B):c.1873G>A (p.Val625Met) rs201657518 0.00003
NM_006892.4(DNMT3B):c.2198G>A (p.Arg733Gln) rs747182299 0.00003
NM_006892.4(DNMT3B):c.254C>T (p.Pro85Leu) rs142571267 0.00003
NM_006892.4(DNMT3B):c.274C>T (p.Arg92Trp) rs149520896 0.00003
NM_006892.4(DNMT3B):c.317G>A (p.Arg106Gln) rs200236170 0.00003
NM_006892.4(DNMT3B):c.467C>T (p.Thr156Met) rs759777486 0.00003
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=) rs373811098 0.00003
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006996.3(SLC19A2):c.*31A>G rs777625943 0.00003
NM_006996.3(SLC19A2):c.*658T>C rs1038511649 0.00003
NM_006996.3(SLC19A2):c.-12C>G rs772886076 0.00003
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) rs374046494 0.00003
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) rs759321228 0.00003
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) rs548333207 0.00003
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) rs17847481 0.00003
NM_007171.3(POMT1):c.-195C>T rs886063536 0.00003
NM_007171.3(POMT1):c.-196G>T rs886063535 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln) rs782749137 0.00003
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn) rs1441537795 0.00003
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 0.00003
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.1226G>A (p.Arg409His) rs145828717 0.00003
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys) rs753738560 0.00003
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr) rs151116227 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr) rs886063379 0.00003
NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly) rs757524831 0.00003
NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys) rs780867714 0.00003
NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly) rs1462453134 0.00003
NM_012210.4(TRIM32):c.206G>A (p.Arg69His) rs11556350 0.00003
NM_012210.4(TRIM32):c.24C>A (p.His8Gln) rs774511117 0.00003
NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp) rs762785784 0.00003
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln) rs753519978 0.00003
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro) rs775940650 0.00003
NM_012210.4(TRIM32):c.812G>A (p.Arg271Gln) rs773872830 0.00003
NM_012233.3(RAB3GAP1):c.*1247T>C rs1027342528 0.00003
NM_012233.3(RAB3GAP1):c.*324T>G rs886054855 0.00003
NM_012414.4(RAB3GAP2):c.*2347T>C rs886046010 0.00003
NM_012414.4(RAB3GAP2):c.*2901G>T rs533792649 0.00003
NM_012414.4(RAB3GAP2):c.-68C>T rs989511076 0.00003
NM_012414.4(RAB3GAP2):c.1131-4T>C rs752780415 0.00003
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) rs770787571 0.00003
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) rs756886302 0.00003
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) rs774771619 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.2534A>G (p.His845Arg) rs183772495 0.00003
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.506C>T (p.Thr169Ile) rs140312751 0.00003
NM_012414.4(RAB3GAP2):c.614A>G (p.Asn205Ser) rs148476958 0.00003
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) rs189536938 0.00003
NM_012448.4(STAT5B):c.-11+7921A>G rs993237482 0.00003
NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) rs372734271 0.00003
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) rs760771231 0.00003
NM_012448.4(STAT5B):c.328C>T (p.Arg110Cys) rs775502922 0.00003
NM_012448.4(STAT5B):c.550+7C>T rs771507023 0.00003
NM_012448.4(STAT5B):c.681+3G>A rs373321150 0.00003
NM_012448.4(STAT5B):c.691G>A (p.Glu231Lys) rs917567542 0.00003
NM_012448.4(STAT5B):c.963G>A (p.Thr321=) rs759793357 0.00003
NM_012463.4(ATP6V0A2):c.*2090C>T rs772018611 0.00003
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00003
NM_012463.4(ATP6V0A2):c.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_013382.7(POMT2):c.*349G>A rs886050822 0.00003
NM_013382.7(POMT2):c.*927G>C rs886050818 0.00003
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00003
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) rs777172630 0.00003
NM_013382.7(POMT2):c.1653+4T>G rs555289061 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.248+20C>G rs1471456899 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) rs921045202 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) rs376046816 0.00003
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu) rs151074136 0.00003
NM_014028.4(OSTM1):c.*177A>G rs886060971 0.00003
NM_014028.4(OSTM1):c.*2769G>T rs998848985 0.00003
NM_014028.4(OSTM1):c.*2773G>A rs886060959 0.00003
NM_014028.4(OSTM1):c.*2990T>C rs376154345 0.00003
NM_014028.4(OSTM1):c.325G>A (p.Val109Met) rs1456427265 0.00003
NM_014053.4(FLVCR1):c.*1174C>T rs886045936 0.00003
NM_014053.4(FLVCR1):c.*1543C>G rs1665346561 0.00003
NM_014053.4(FLVCR1):c.*1548T>C rs1572032740 0.00003
NM_014053.4(FLVCR1):c.*2371A>G rs886045940 0.00003
NM_014053.4(FLVCR1):c.*3739G>A rs865806240 0.00003
NM_014053.4(FLVCR1):c.*839T>G rs886045932 0.00003
NM_014053.4(FLVCR1):c.*923T>C rs886045935 0.00003
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=) rs886045923 0.00003
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys) rs142749772 0.00003
NM_014321.4(ORC6):c.23G>T (p.Arg8Leu) rs754832466 0.00003
NM_014321.4(ORC6):c.390A>T (p.Gln130His) rs372048763 0.00003
NM_014321.4(ORC6):c.450-4G>A rs886052013 0.00003
NM_014321.4(ORC6):c.96G>C (p.Arg32=) rs138213159 0.00003
NM_014363.6(SACS):c.*882A>C rs886050069 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met) rs1252737332 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.345+14C>T rs538944334 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala) rs201899988 0.00003
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622 0.00003
NM_014425.5(INVS):c.1017A>C (p.Arg339Ser) rs201043963 0.00003
NM_014425.5(INVS):c.1065A>C (p.Lys355Asn) rs146667666 0.00003
NM_014425.5(INVS):c.1639G>C (p.Gly547Arg) rs368682890 0.00003
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00003
NM_014425.5(INVS):c.1669A>G (p.Ile557Val) rs762519529 0.00003
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00003
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp) rs540466137 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.2279C>T (p.Ser760Phe) rs1324519096 0.00003
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00003
NM_014425.5(INVS):c.595C>A (p.His199Asn) rs751348020 0.00003
NM_014425.5(INVS):c.796+4C>T rs371310920 0.00003
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00003
NM_014425.5(INVS):c.817C>T (p.Leu273Phe) rs776929488 0.00003
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_014780.5(CUL7):c.1590A>C (p.Leu530=) rs552325363 0.00003
NM_014780.5(CUL7):c.1664C>T (p.Ala555Val) rs747565596 0.00003
NM_014780.5(CUL7):c.2360G>A (p.Arg787His) rs200899810 0.00003
NM_014780.5(CUL7):c.2586G>T (p.Lys862Asn) rs749595977 0.00003
NM_014780.5(CUL7):c.268G>A (p.Gly90Arg) rs370127154 0.00003
NM_014780.5(CUL7):c.3895C>T (p.Arg1299Cys) rs759612933 0.00003
NM_014780.5(CUL7):c.88G>A (p.Val30Met) rs752077507 0.00003
NM_014797.3(ZBTB24):c.1204+4C>T rs369193786 0.00003
NM_014797.3(ZBTB24):c.121T>G (p.Leu41Val) rs775440070 0.00003
NM_014797.3(ZBTB24):c.1235A>G (p.His412Arg) rs548726702 0.00003
NM_014797.3(ZBTB24):c.2056G>A (p.Val686Met) rs373326176 0.00003
NM_014797.3(ZBTB24):c.356A>G (p.Tyr119Cys) rs774995879 0.00003
NM_014797.3(ZBTB24):c.788A>G (p.Lys263Arg) rs148296427 0.00003
NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp) rs554758747 0.00003
NM_014918.5(CHSY1):c.1198G>A (p.Ala400Thr) rs573681382 0.00003
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg) rs1315448986 0.00003
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp) rs762384442 0.00003
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp) rs775902514 0.00003
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met) rs202080477 0.00003
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys) rs766713516 0.00003
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu) rs761621131 0.00003
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp) rs377437628 0.00003
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln) rs756048473 0.00003
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg) rs377597884 0.00003
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp) rs1055666351 0.00003
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His) rs372292887 0.00003
NM_014956.5(CEP164):c.3278+5_3278+8del rs929035130 0.00003
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr) rs527615343 0.00003
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu) rs75301270 0.00003
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala) rs757246851 0.00003
NM_014956.5(CEP164):c.625C>G (p.Leu209Val) rs921440647 0.00003
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly) rs777527578 0.00003
NM_014956.5(CEP164):c.765+3A>T rs1256710112 0.00003
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser) rs767609128 0.00003
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg) rs376214075 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015102.5(NPHP4):c.1087G>A (p.Val363Met) rs373624347 0.00003
NM_015102.5(NPHP4):c.1330C>T (p.Arg444Trp) rs375090105 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.1430C>T (p.Thr477Met) rs886043364 0.00003
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro) rs374239338 0.00003
NM_015102.5(NPHP4):c.1715C>T (p.Pro572Leu) rs183722664 0.00003
NM_015102.5(NPHP4):c.2020C>T (p.Arg674Cys) rs748042945 0.00003
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr) rs368101076 0.00003
NM_015102.5(NPHP4):c.2246T>C (p.Ile749Thr) rs372250881 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp) rs1233207932 0.00003
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala) rs775263560 0.00003
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met) rs1412960310 0.00003
NM_015102.5(NPHP4):c.2818-20C>T rs794727344 0.00003
NM_015102.5(NPHP4):c.2849G>A (p.Arg950Gln) rs762546912 0.00003
NM_015102.5(NPHP4):c.3059G>C (p.Ser1020Thr) rs754216736 0.00003
NM_015102.5(NPHP4):c.3226G>C (p.Val1076Leu) rs766365388 0.00003
NM_015102.5(NPHP4):c.3232-11G>A rs191631053 0.00003
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr) rs573269001 0.00003
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu) rs549077156 0.00003
NM_015102.5(NPHP4):c.3535G>T (p.Val1179Phe) rs757359430 0.00003
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys) rs753555544 0.00003
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) rs539967736 0.00003
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) rs199625626 0.00003
NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=) rs377728296 0.00003
NM_015102.5(NPHP4):c.3740G>A (p.Arg1247His) rs200623969 0.00003
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser) rs367814493 0.00003
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met) rs372485746 0.00003
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln) rs766202367 0.00003
NM_015102.5(NPHP4):c.4106C>T (p.Pro1369Leu) rs746256511 0.00003
NM_015102.5(NPHP4):c.490C>T (p.His164Tyr) rs761063669 0.00003
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_015294.6(TRIM37):c.*1030T>C rs186389005 0.00003
NM_015294.6(TRIM37):c.*1084C>T rs12451581 0.00003
NM_015294.6(TRIM37):c.-139G>A rs886053178 0.00003
NM_015294.6(TRIM37):c.-230C>T rs886053180 0.00003
NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) rs765983264 0.00003
NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val) rs770505316 0.00003
NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr) rs375437566 0.00003
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) rs763498145 0.00003
NM_015311.3(OBSL1):c.1136G>A (p.Arg379Gln) rs756906456 0.00003
NM_015311.3(OBSL1):c.202G>A (p.Gly68Ser) rs762604451 0.00003
NM_015311.3(OBSL1):c.2327C>G (p.Pro776Arg) rs371579379 0.00003
NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) rs781481635 0.00003
NM_015311.3(OBSL1):c.2690C>T (p.Ser897Leu) rs748312907 0.00003
NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) rs190405420 0.00003
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) rs749067992 0.00003
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) rs376296747 0.00003
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln) rs769010867 0.00003
NM_015404.4(WHRN):c.*149A>G rs563858014 0.00003
NM_015404.4(WHRN):c.-23C>G rs770413185 0.00003
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514 0.00003
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) rs143464875 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.762C>T (p.His254=) rs201171374 0.00003
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563 0.00003
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp) rs202019609 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp) rs756853004 0.00003
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn) rs375448136 0.00003
NM_015602.4(TOR1AIP1):c.327G>C (p.Arg109Ser) rs770530581 0.00003
NM_015602.4(TOR1AIP1):c.554-1G>A rs200993053 0.00003
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile) rs767019881 0.00003
NM_015662.3(IFT172):c.2681G>A (p.Arg894His) rs561927411 0.00003
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys) rs749474609 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_015665.6(AAAS):c.307+13C>T rs761242924 0.00003
NM_015665.6(AAAS):c.362C>T (p.Ala121Val) rs201451157 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015665.6(AAAS):c.667G>C (p.Asp223His) rs141013947 0.00003
NM_015665.6(AAAS):c.819T>C (p.Asp273=) rs149487112 0.00003
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly) rs758621800 0.00003
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256 0.00003
NM_015910.7(WDPCP):c.158C>T (p.Ala53Val) rs149347732 0.00003
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His) rs375036014 0.00003
NM_015910.7(WDPCP):c.1880G>T (p.Ser627Ile) rs576368237 0.00003
NM_015910.7(WDPCP):c.25G>C (p.Ala9Pro) rs780151486 0.00003
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met) rs753130718 0.00003
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys) rs375338402 0.00003
NM_015910.7(WDPCP):c.410T>C (p.Val137Ala) rs780789710 0.00003
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val) rs769180655 0.00003
NM_015910.7(WDPCP):c.806A>G (p.Tyr269Cys) rs749575727 0.00003
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys) rs747564290 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00003
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met) rs565320740 0.00003
NM_016122.3(CEP83):c.1016G>C (p.Arg339Thr) rs530002505 0.00003
NM_016122.3(CEP83):c.1194G>A (p.Lys398=) rs1454522956 0.00003
NM_016122.3(CEP83):c.1292G>A (p.Arg431Gln) rs759737051 0.00003
NM_016122.3(CEP83):c.1419+4T>G rs753727360 0.00003
NM_016122.3(CEP83):c.1685G>A (p.Arg562Gln) rs182648141 0.00003
NM_016122.3(CEP83):c.2035C>T (p.Arg679Cys) rs771273063 0.00003
NM_016122.3(CEP83):c.434G>T (p.Arg145Ile) rs1320042850 0.00003
NM_016122.3(CEP83):c.671T>C (p.Leu224Ser) rs370654785 0.00003
NM_016122.3(CEP83):c.908G>A (p.Arg303Gln) rs754009093 0.00003
NM_016219.5(MAN1B1):c.*62A>G rs963031485 0.00003
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile) rs763074368 0.00003
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln) rs368503703 0.00003
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys) rs748988185 0.00003
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln) rs765008747 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn) rs376305905 0.00003
NM_016239.4(MYO15A):c.10555C>T (p.Arg3519Trp) rs771116631 0.00003
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser) rs762439635 0.00003
NM_016239.4(MYO15A):c.1688G>T (p.Arg563Leu) rs766250103 0.00003
NM_016239.4(MYO15A):c.2855G>A (p.Gly952Asp) rs779295118 0.00003
NM_016239.4(MYO15A):c.3623G>A (p.Arg1208His) rs778112788 0.00003
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=) rs201056676 0.00003
NM_016239.4(MYO15A):c.3807A>G (p.Gly1269=) rs766863440 0.00003
NM_016239.4(MYO15A):c.3891C>T (p.Leu1297=) rs369087707 0.00003
NM_016239.4(MYO15A):c.5224C>T (p.Leu1742Phe) rs776340062 0.00003
NM_016239.4(MYO15A):c.5354T>C (p.Met1785Thr) rs775363115 0.00003
NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala) rs368814566 0.00003
NM_016239.4(MYO15A):c.8225-13T>C rs748943724 0.00003
NM_016239.4(MYO15A):c.8334C>T (p.Pro2778=) rs545645668 0.00003
NM_016239.4(MYO15A):c.8651C>T (p.Ala2884Val) rs199864860 0.00003
NM_016239.4(MYO15A):c.9912C>T (p.Phe3304=) rs199560726 0.00003
NM_016302.4(CRBN):c.724C>T (p.Arg242Cys) rs541404259 0.00003
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu) rs757670255 0.00003
NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala) rs763350514 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_016366.3(CABP2):c.3G>A (p.Met1Ile) rs1354716315 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr) rs767667847 0.00003
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp) rs750042007 0.00003
NM_016373.4(WWOX):c.167C>T (p.Ala56Val) rs530912550 0.00003
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser) rs757145186 0.00003
NM_016373.4(WWOX):c.563G>A (p.Arg188His) rs771163284 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00003
NM_016373.4(WWOX):c.977T>C (p.Met326Thr) rs371996496 0.00003
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00003
NM_016464.5(TMEM138):c.*264C>G rs886048409 0.00003
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala) rs755251825 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp) rs750788154 0.00003
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) rs755197148 0.00003
NM_016938.5(EFEMP2):c.1170+3A>G rs771815109 0.00003
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile) rs774228818 0.00003
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) rs369601362 0.00003
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) rs148940436 0.00003
NM_017433.5(MYO3A):c.*195C>T rs980105067 0.00003
NM_017433.5(MYO3A):c.*327G>A rs886046928 0.00003
NM_017433.5(MYO3A):c.1562T>C (p.Ile521Thr) rs886046921 0.00003
NM_017433.5(MYO3A):c.1583T>C (p.Ile528Thr) rs886046922 0.00003
NM_017433.5(MYO3A):c.2115-10A>G rs200205050 0.00003
NM_017433.5(MYO3A):c.233T>G (p.Val78Gly) rs377015132 0.00003
NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln) rs755548787 0.00003
NM_017433.5(MYO3A):c.3035C>T (p.Pro1012Leu) rs146852484 0.00003
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln) rs267602452 0.00003
NM_017433.5(MYO3A):c.3993C>T (p.Val1331=) rs373422750 0.00003
NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter) rs754217606 0.00003
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His) rs576457697 0.00003
NM_017739.4(POMGNT1):c.1030C>T (p.Pro344Ser) rs755454684 0.00003
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met) rs756026992 0.00003
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00003
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro) rs200227264 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416 0.00003
NM_017739.4(POMGNT1):c.652+8C>T rs778376741 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn) rs779298195 0.00003
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr) rs766301739 0.00003
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser) rs140003855 0.00003
NM_017755.6(NSUN2):c.914G>A (p.Arg305His) rs368030963 0.00003
NM_017777.4(MKS1):c.*381A>G rs886053168 0.00003
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_017929.5(PEX26):c.-203G>A rs544836312 0.00003
NM_018075.5(ANO10):c.1401G>T (p.Val467=) rs149580265 0.00003
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00003
NM_018075.5(ANO10):c.1710C>T (p.Asn570=) rs142862162 0.00003
NM_018109.4(MTPAP):c.468G>C (p.Gln156His) rs547303023 0.00003
NM_018136.5(ASPM):c.*145T>G rs537891059 0.00003
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His) rs141240137 0.00003
NM_018136.5(ASPM):c.1825C>G (p.Pro609Ala) rs760610573 0.00003
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.2173+6C>T rs377501585 0.00003
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) rs181039922 0.00003
NM_018136.5(ASPM):c.4024A>G (p.Lys1342Glu) rs779744390 0.00003
NM_018136.5(ASPM):c.4488A>G (p.Lys1496=) rs141695023 0.00003
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val) rs369399401 0.00003
NM_018136.5(ASPM):c.609C>T (p.Gly203=) rs587783255 0.00003
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe) rs371020085 0.00003
NM_018136.5(ASPM):c.6965A>C (p.Tyr2322Ser) rs886045768 0.00003
NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser) rs371852516 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 0.00003
NM_018136.5(ASPM):c.902A>G (p.Asn301Ser) rs199621432 0.00003
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp) rs142024644 0.00003
NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp) rs758869894 0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro) rs375985254 0.00003
NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val) rs147256280 0.00003
NM_018249.6(CDK5RAP2):c.-154C>T rs886063403 0.00003
NM_018249.6(CDK5RAP2):c.3859G>T (p.Ala1287Ser) rs587783386 0.00003
NM_018249.6(CDK5RAP2):c.4211C>A (p.Thr1404Asn) rs886063394 0.00003
NM_018249.6(CDK5RAP2):c.4497C>A (p.Ala1499=) rs886063393 0.00003
NM_018249.6(CDK5RAP2):c.4822A>G (p.Ser1608Gly) rs372057183 0.00003
NM_018249.6(CDK5RAP2):c.507+5G>C rs370988646 0.00003
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
NM_018275.5(TRAPPC14):c.1670A>C (p.Asp557Ala) rs774828478 0.00003
NM_018319.4(TDP1):c.*264G>T rs779122283 0.00003
NM_018319.4(TDP1):c.*631C>T rs1027214918 0.00003
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) rs772139596 0.00003
NM_018319.4(TDP1):c.353C>T (p.Ala118Val) rs150113775 0.00003
NM_018319.4(TDP1):c.716A>G (p.His239Arg) rs750038981 0.00003
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu) rs142600338 0.00003
NM_018389.5(SLC35C1):c.*1031G>A rs1476944695 0.00003
NM_018389.5(SLC35C1):c.*1229C>T rs938496129 0.00003
NM_018389.5(SLC35C1):c.*528G>A rs886048317 0.00003
NM_018389.5(SLC35C1):c.*650C>A rs780018107 0.00003
NM_018389.5(SLC35C1):c.-518C>A rs886048309 0.00003
NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu) rs777594884 0.00003
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala) rs769916550 0.00003
NM_018389.5(SLC35C1):c.650C>T (p.Thr217Met) rs764909821 0.00003
NM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser) rs757393960 0.00003
NM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys) rs374599500 0.00003
NM_018451.5(CENPJ):c.4016G>A (p.Ter1339=) rs768167259 0.00003
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu) rs566700308 0.00003
NM_018699.4(PRDM5):c.650+5G>A rs754469516 0.00003
NM_018718.3(CEP41):c.*2669A>G rs905679390 0.00003
NM_018718.3(CEP41):c.*2849A>G rs1288708394 0.00003
NM_018718.3(CEP41):c.*3040G>A rs566129615 0.00003
NM_018718.3(CEP41):c.*3044A>G rs886061991 0.00003
NM_018718.3(CEP41):c.*333C>T rs886062000 0.00003
NM_018718.3(CEP41):c.*4007C>T rs782719854 0.00003
NM_018718.3(CEP41):c.*578T>C rs782132140 0.00003
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser) rs782131552 0.00003
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys) rs138907207 0.00003
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) rs782769549 0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300 0.00003
NM_018972.4(GDAP1):c.*1080G>A rs766481914 0.00003
NM_018972.4(GDAP1):c.*1437A>C rs557040712 0.00003
NM_018972.4(GDAP1):c.*1570G>C rs886063114 0.00003
NM_018972.4(GDAP1):c.*644G>T rs913538379 0.00003
NM_018972.4(GDAP1):c.*663T>C rs886063107 0.00003
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_020247.5(COQ8A):c.*631C>G rs886046073 0.00003
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val) rs773489358 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) rs778967806 0.00003
NM_020458.4(TTC7A):c.1203+3A>G rs545951536 0.00003
NM_020458.4(TTC7A):c.1331G>A (p.Arg444Gln) rs764574982 0.00003
NM_020458.4(TTC7A):c.1364C>T (p.Ala455Val) rs201913059 0.00003
NM_020458.4(TTC7A):c.1600G>A (p.Val534Ile) rs779782772 0.00003
NM_020458.4(TTC7A):c.1640A>G (p.Gln547Arg) rs377335030 0.00003
NM_020458.4(TTC7A):c.1641+4G>A rs779771506 0.00003
NM_020458.4(TTC7A):c.2050C>T (p.Arg684Trp) rs368826418 0.00003
NM_020458.4(TTC7A):c.2107C>T (p.Pro703Ser) rs749594871 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020458.4(TTC7A):c.2338C>T (p.Arg780Cys) rs777474719 0.00003
NM_020458.4(TTC7A):c.2408G>A (p.Arg803His) rs146165942 0.00003
NM_020458.4(TTC7A):c.2461G>A (p.Glu821Lys) rs771426124 0.00003
NM_020458.4(TTC7A):c.262T>C (p.Ser88Pro) rs749883233 0.00003
NM_020458.4(TTC7A):c.280A>C (p.Lys94Gln) rs766411601 0.00003
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) rs150269540 0.00003
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met) rs771928245 0.00003
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His) rs779612506 0.00003
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val) rs767686554 0.00003
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933 0.00003
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu) rs757727499 0.00003
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621 0.00003
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His) rs891527256 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668 0.00003
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735 0.00003
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203 0.00003
NM_020631.6(PLEKHG5):c.784G>C (p.Ala262Pro) rs550362834 0.00003
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln) rs759306471 0.00003
NM_020632.3(ATP6V0A4):c.*180G>T rs1047422453 0.00003
NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) rs777210633 0.00003
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) rs886062012 0.00003
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg) rs141194465 0.00003
NM_020632.3(ATP6V0A4):c.842G>A (p.Arg281His) rs532107577 0.00003
NM_020661.4(AICDA):c.23G>A (p.Arg8Gln) rs773903008 0.00003
NM_020661.4(AICDA):c.418A>G (p.Thr140Ala) rs375684823 0.00003
NM_020751.3(COG6):c.1961C>T (p.Thr654Met) rs747232819 0.00003
NM_020779.4(WDR35):c.*1038C>G rs145549829 0.00003
NM_020779.4(WDR35):c.*1218C>T rs990547735 0.00003
NM_020779.4(WDR35):c.*1821A>G rs978221263 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.142+5A>G rs762617889 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile) rs143397737 0.00003
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) rs781365658 0.00003
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp) rs374027943 0.00003
NM_020779.4(WDR35):c.2864G>A (p.Arg955His) rs780666056 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) rs745580829 0.00003
NM_020812.4(DOCK6):c.934C>T (p.His312Tyr) rs370838036 0.00003
NM_020964.3(EPG5):c.1250G>A (p.Arg417Gln) rs369094716 0.00003
NM_020964.3(EPG5):c.1511A>C (p.His504Pro) rs754120095 0.00003
NM_020964.3(EPG5):c.167A>G (p.Lys56Arg) rs761554872 0.00003
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998 0.00003
NM_020964.3(EPG5):c.1811C>G (p.Thr604Arg) rs373011809 0.00003
NM_020964.3(EPG5):c.1903C>T (p.Arg635Cys) rs764895705 0.00003
NM_020964.3(EPG5):c.2662A>G (p.Lys888Glu) rs769833086 0.00003
NM_020964.3(EPG5):c.2710G>A (p.Ala904Thr) rs754355395 0.00003
NM_020964.3(EPG5):c.2812G>A (p.Gly938Arg) rs773907627 0.00003
NM_020964.3(EPG5):c.3020A>T (p.His1007Leu) rs377551412 0.00003
NM_020964.3(EPG5):c.3034G>A (p.Ala1012Thr) rs773390222 0.00003
NM_020964.3(EPG5):c.338T>G (p.Val113Gly) rs772420839 0.00003
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys) rs749547713 0.00003
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys) rs751554863 0.00003
NM_020964.3(EPG5):c.5110G>A (p.Val1704Ile) rs982203129 0.00003
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp) rs750664406 0.00003
NM_020964.3(EPG5):c.5383G>T (p.Ala1795Ser) rs369731452 0.00003
NM_020964.3(EPG5):c.6167G>A (p.Arg2056Gln) rs753386481 0.00003
NM_020964.3(EPG5):c.6568C>T (p.Leu2190Phe) rs1280775043 0.00003
NM_020964.3(EPG5):c.674G>C (p.Gly225Ala) rs200910594 0.00003
NM_020964.3(EPG5):c.6785G>A (p.Arg2262His) rs375960377 0.00003
NM_020964.3(EPG5):c.6826A>T (p.Met2276Leu) rs748788401 0.00003
NM_020964.3(EPG5):c.688T>G (p.Leu230Val) rs774387511 0.00003
NM_020964.3(EPG5):c.7511G>A (p.Arg2504His) rs979554550 0.00003
NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile) rs777854920 0.00003
NM_020964.3(EPG5):c.974T>G (p.Leu325Arg) rs1181548699 0.00003
NM_020964.3(EPG5):c.995A>G (p.Gln332Arg) rs374633337 0.00003
NM_021252.5(RAB18):c.*1452G>A rs1045270686 0.00003
NM_021252.5(RAB18):c.*3330G>C rs537665208 0.00003
NM_021252.5(RAB18):c.*382C>T rs886046971 0.00003
NM_021252.5(RAB18):c.*4008C>T rs538921321 0.00003
NM_021628.3(ALOXE3):c.1542G>A (p.Lys514=) rs370462522 0.00003
NM_021628.3(ALOXE3):c.1696C>T (p.Arg566Trp) rs775786728 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_021942.6(TRAPPC11):c.1337A>G (p.Tyr446Cys) rs149572534 0.00003
NM_021942.6(TRAPPC11):c.2050-3T>C rs768168477 0.00003
NM_021942.6(TRAPPC11):c.2684T>C (p.Val895Ala) rs200931036 0.00003
NM_021942.6(TRAPPC11):c.2696T>C (p.Phe899Ser) rs777270916 0.00003
NM_021942.6(TRAPPC11):c.2749C>T (p.Leu917Phe) rs554771345 0.00003
NM_021942.6(TRAPPC11):c.2995A>C (p.Thr999Pro) rs1453357796 0.00003
NM_021942.6(TRAPPC11):c.3029A>T (p.Glu1010Val) rs773678506 0.00003
NM_021942.6(TRAPPC11):c.3074G>A (p.Arg1025His) rs374203755 0.00003
NM_021942.6(TRAPPC11):c.3215C>T (p.Thr1072Met) rs147061560 0.00003
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp) rs532605756 0.00003
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val) rs768253464 0.00003
NM_021942.6(TRAPPC11):c.965+5G>T rs758780741 0.00003
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val) rs1185784683 0.00003
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) rs370840899 0.00003
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) rs144421130 0.00003
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00003
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) rs373005131 0.00003
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) rs200337290 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu) rs376348581 0.00003
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu) rs146559160 0.00003
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) rs372182128 0.00003
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) rs758675397 0.00003
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) rs372857244 0.00003
NM_022095.4(ZNF335):c.1508G>A (p.Arg503His) rs765260747 0.00003
NM_022095.4(ZNF335):c.1856G>A (p.Arg619His) rs555774487 0.00003
NM_022098.4(XPNPEP3):c.*1205C>T rs886057514 0.00003
NM_022098.4(XPNPEP3):c.*1376C>G rs891838286 0.00003
NM_022098.4(XPNPEP3):c.*3542A>G rs766458439 0.00003
NM_022098.4(XPNPEP3):c.*5508T>G rs886057545 0.00003
NM_022098.4(XPNPEP3):c.*5649C>T rs886057547 0.00003
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=) rs146309087 0.00003
NM_022098.4(XPNPEP3):c.969+6T>C rs371875441 0.00003
NM_022124.6(CDH23):c.*83G>A rs886047143 0.00003
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu) rs727504532 0.00003
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00003
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499 0.00003
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile) rs547668692 0.00003
NM_022124.6(CDH23):c.2086A>G (p.Thr696Ala) rs372874226 0.00003
NM_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.255C>T (p.Gly85=) rs763083679 0.00003
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00003
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu) rs763602387 0.00003
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) rs199793172 0.00003
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00003
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) rs397517325 0.00003
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met) rs774804095 0.00003
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) rs774716336 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) rs758413650 0.00003
NM_022124.6(CDH23):c.4206+5G>A rs768842900 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138 0.00003
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=) rs371522191 0.00003
NM_022124.6(CDH23):c.550C>T (p.Arg184Cys) rs779468414 0.00003
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655 0.00003
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418 0.00003
NM_022124.6(CDH23):c.559G>A (p.Val187Ile) rs369624952 0.00003
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp) rs750798211 0.00003
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760 0.00003
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr) rs528880720 0.00003
NM_022124.6(CDH23):c.6556T>A (p.Ser2186Thr) rs374194433 0.00003
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr) rs727504841 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7769C>G (p.Pro2590Arg) rs368781470 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.79C>T (p.Arg27Trp) rs370760723 0.00003
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092 0.00003
NM_022124.6(CDH23):c.8054C>T (p.Ala2685Val) rs750069887 0.00003
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) rs397517356 0.00003
NM_022124.6(CDH23):c.8304C>T (p.Ile2768=) rs760929762 0.00003
NM_022124.6(CDH23):c.8310C>T (p.Ala2770=) rs749582906 0.00003
NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys) rs760130862 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met) rs781604742 0.00003
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met) rs370087572 0.00003
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=) rs727504725 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9526G>A (p.Glu3176Lys) rs771915739 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022124.6(CDH23):c.9806G>A (p.Arg3269His) rs747409066 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys) rs113854430 0.00003
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079 0.00003
NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro) rs201917037 0.00003
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala) rs141748480 0.00003
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr) rs763096939 0.00003
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val) rs186942719 0.00003
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn) rs567418553 0.00003
NM_022168.4(IFIH1):c.2045-1G>A rs748813106 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022168.4(IFIH1):c.2305-2A>G rs199696786 0.00003
NM_022168.4(IFIH1):c.2447del (p.Met816fs) rs1349369420 0.00003
NM_022168.4(IFIH1):c.2616+6G>T rs761784724 0.00003
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr) rs748688202 0.00003
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs) rs1392296770 0.00003
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser) rs553228814 0.00003
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter) rs74162079 0.00003
NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) rs149835516 0.00003
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) rs376622302 0.00003
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.355C>G (p.Leu119Val) rs758512287 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) rs755588907 0.00003
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261 0.00003
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901 0.00003
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) rs1276654268 0.00003
NM_024417.5(FDXR):c.980G>A (p.Arg327His) rs752410856 0.00003
NM_024570.4(RNASEH2B):c.-145G>A rs1227696445 0.00003
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile) rs1292841062 0.00003
NM_024570.4(RNASEH2B):c.245-8A>G rs1057517815 0.00003
NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126 0.00003
NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr) rs199935006 0.00003
NM_024570.4(RNASEH2B):c.440A>C (p.Asn147Thr) rs746633003 0.00003
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr) rs768415436 0.00003
NM_024580.6(EFL1):c.2224A>G (p.Ile742Val) rs765113282 0.00003
NM_024596.5(MCPH1):c.*122T>A rs950454282 0.00003
NM_024596.5(MCPH1):c.*86A>G rs886063069 0.00003
NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr) rs757893077 0.00003
NM_024596.5(MCPH1):c.149T>G (p.Val50Gly) rs566242931 0.00003
NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) rs538316396 0.00003
NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp) rs750376557 0.00003
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) rs189380942 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) rs776125109 0.00003
NM_024596.5(MCPH1):c.706G>C (p.Asp236His) rs886063057 0.00003
NM_024649.5(BBS1):c.*1217C>A rs1057306658 0.00003
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) rs771291825 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024678.6(NARS2):c.844G>A (p.Ala282Thr) rs146900529 0.00003
NM_024685.4(BBS10):c.*1140A>G rs886049842 0.00003
NM_024685.4(BBS10):c.*1204T>A rs886049839 0.00003
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) rs780966013 0.00003
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile) rs773540960 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_024735.5(FBXO31):c.996+4A>G rs765703905 0.00003
NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) rs373845234 0.00003
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser) rs371583620 0.00003
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser) rs369672356 0.00003
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg) rs760571843 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2731C>G (p.Leu911Val) rs112372576 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.2971C>T (p.Arg991Cys) rs367876567 0.00003
NM_024753.5(TTC21B):c.308G>A (p.Arg103His) rs774327753 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn) rs554851165 0.00003
NM_024753.5(TTC21B):c.3806-3C>T rs764138635 0.00003
NM_024753.5(TTC21B):c.3873+10T>A rs779470575 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_024824.5(ZC3H14):c.1280-1856A>G rs538186371 0.00003
NM_024989.4(PGAP1):c.1089C>T (p.Asn363=) rs766852236 0.00003
NM_024989.4(PGAP1):c.153A>G (p.Ile51Met) rs777153886 0.00003
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) rs201002323 0.00003
NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn) rs771805552 0.00003
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met) rs774987863 0.00003
NM_025009.5(CEP135):c.2458A>G (p.Asn820Asp) rs748666352 0.00003
NM_025074.7(FRAS1):c.*1666G>A rs1374310535 0.00003
NM_025074.7(FRAS1):c.*1752T>C rs762849572 0.00003
NM_025074.7(FRAS1):c.*5G>A rs764066985 0.00003
NM_025074.7(FRAS1):c.*84A>G rs886059646 0.00003
NM_025074.7(FRAS1):c.*957G>C rs886059650 0.00003
NM_025074.7(FRAS1):c.-18G>T rs750662462 0.00003
NM_025074.7(FRAS1):c.-233A>T rs566584457 0.00003
NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=) rs182887871 0.00003
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln) rs370319615 0.00003
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp) rs759074187 0.00003
NM_025074.7(FRAS1):c.11925C>T (p.Asn3975=) rs368578398 0.00003
NM_025074.7(FRAS1):c.2328C>T (p.Cys776=) rs776037240 0.00003
NM_025074.7(FRAS1):c.2433C>T (p.His811=) rs756276943 0.00003
NM_025074.7(FRAS1):c.3152-10T>C rs776449329 0.00003
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp) rs375515578 0.00003
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln) rs772059263 0.00003
NM_025074.7(FRAS1):c.5006C>T (p.Ala1669Val) rs774087208 0.00003
NM_025074.7(FRAS1):c.5056A>C (p.Ile1686Leu) rs748832101 0.00003
NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg) rs997260986 0.00003
NM_025074.7(FRAS1):c.6681C>G (p.Asp2227Glu) rs776374326 0.00003
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln) rs771923121 0.00003
NM_025074.7(FRAS1):c.7030-6G>A rs771012779 0.00003
NM_025074.7(FRAS1):c.7744A>C (p.Asn2582His) rs774114715 0.00003
NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser) rs117838818 0.00003
NM_025074.7(FRAS1):c.8440G>A (p.Ala2814Thr) rs559602357 0.00003
NM_025074.7(FRAS1):c.8515C>T (p.Arg2839Trp) rs373073168 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_025074.7(FRAS1):c.8827C>T (p.Arg2943Trp) rs751338045 0.00003
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val) rs886059637 0.00003
NM_025074.7(FRAS1):c.9505-4G>A rs367680303 0.00003
NM_025074.7(FRAS1):c.9658G>A (p.Gly3220Ser) rs552881646 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.1877G>A (p.Ser626Asn) rs746124813 0.00003
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser) rs375523390 0.00003
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3664G>A (p.Glu1222Lys) rs770015278 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.4972A>G (p.Thr1658Ala) rs1237184267 0.00003
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe) rs1264789609 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.534G>T (p.Gln178His) rs368025801 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.6820A>G (p.Met2274Val) rs1326611388 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser) rs754462052 0.00003
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) rs754398792 0.00003
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) rs1159836808 0.00003
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) rs794727762 0.00003
NM_025132.4(WDR19):c.*131C>T rs886059404 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile) rs184326673 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1182A>G (p.Ala394=) rs769687203 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2363C>T (p.Ala788Val) rs867487924 0.00003
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala) rs934792994 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.288G>A (p.Met96Ile) rs374891297 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 0.00003
NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu) rs757721845 0.00003
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr) rs1206705962 0.00003
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His) rs115335610 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) rs766752510 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_025216.3(WNT10A):c.*115C>T rs886055646 0.00003
NM_025216.3(WNT10A):c.914G>A (p.Arg305His) rs746769946 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) rs779562122 0.00003
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) rs371103107 0.00003
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) rs763449183 0.00003
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) rs773457746 0.00003
NM_031471.6(FERMT3):c.1545+5C>T rs755201201 0.00003
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) rs756707894 0.00003
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) rs375595381 0.00003
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) rs778967874 0.00003
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) rs201973872 0.00003
NM_031471.6(FERMT3):c.629T>A (p.Leu210His) rs147374831 0.00003
NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln) rs552715518 0.00003
NM_031885.3(BBS2):c.-177C>T rs567188429 0.00003
NM_031885.3(BBS2):c.-178C>T rs548915387 0.00003
NM_031885.5(BBS2):c.-146G>A rs886052153 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1284C>T (p.His428=) rs757521927 0.00003
NM_031885.5(BBS2):c.1527+12G>A rs376715521 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.58G>A (p.Ala20Thr) rs886052150 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) rs377749641 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032040.5(CCDC8):c.287C>G (p.Thr96Arg) rs758816408 0.00003
NM_032119.4(ADGRV1):c.*124C>T rs547829526 0.00003
NM_032119.4(ADGRV1):c.*270C>A rs1415320521 0.00003
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385 0.00003
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.1578G>T (p.Gln526His) rs199701878 0.00003
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His) rs747856236 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132 0.00003
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) rs201767389 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032119.4(ADGRV1):c.17595-4C>T rs762535387 0.00003
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160 0.00003
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly) rs547076322 0.00003
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981 0.00003
NM_032119.4(ADGRV1):c.3928A>C (p.Thr1310Pro) rs771051473 0.00003
NM_032119.4(ADGRV1):c.4118C>T (p.Ala1373Val) rs187139957 0.00003
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser) rs775440063 0.00003
NM_032119.4(ADGRV1):c.4878C>T (p.Asp1626=) rs755906427 0.00003
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832 0.00003
NM_032119.4(ADGRV1):c.5665G>A (p.Val1889Ile) rs760468429 0.00003
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) rs759954556 0.00003
NM_032119.4(ADGRV1):c.8386+12T>C rs780022610 0.00003
NM_032193.4(RNASEH2C):c.*29A>G rs886048499 0.00003
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00003
NM_032237.5(POMK):c.271G>A (p.Ala91Thr) rs1365587547 0.00003
NM_032237.5(POMK):c.715G>A (p.Gly239Arg) rs35104071 0.00003
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe) rs768937406 0.00003
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser) rs200023062 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_032575.3(GLIS2):c.*1791T>C rs886052003 0.00003
NM_032575.3(GLIS2):c.*525C>T rs886051991 0.00003
NM_032575.3(GLIS2):c.*632G>A rs886051994 0.00003
NM_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 0.00003
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) rs750906253 0.00003
NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp) rs761985295 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.903C>T (p.His301=) rs371341058 0.00003
NM_032793.5(MFSD2A):c.874G>A (p.Gly292Ser) rs201045061 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_033028.5(BBS4):c.*149C>A rs578051922 0.00003
NM_033028.5(BBS4):c.*855_*856del rs748809330 0.00003
NM_033028.5(BBS4):c.-3A>G rs771900208 0.00003
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr) rs969384648 0.00003
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser) rs751716258 0.00003
NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala) rs760115702 0.00003
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala) rs746070171 0.00003
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys) rs201651412 0.00003
NM_033028.5(BBS4):c.233G>A (p.Arg78His) rs200396355 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033028.5(BBS4):c.975T>A (p.His325Gln) rs769873362 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186 0.00003
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile) rs772081755 0.00003
NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr) rs762526774 0.00003
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser) rs1421385928 0.00003
NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser) rs750061228 0.00003
NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) rs371269732 0.00003
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser) rs376353049 0.00003
NM_033064.5(ATCAY):c.*1217A>C rs1459765640 0.00003
NM_033064.5(ATCAY):c.*3018C>T rs887057996 0.00003
NM_033064.5(ATCAY):c.*420C>T rs1044796308 0.00003
NM_033064.5(ATCAY):c.*512G>A rs964128076 0.00003
NM_033064.5(ATCAY):c.-170C>A rs1034699695 0.00003
NM_033064.5(ATCAY):c.1002C>T (p.Ser334=) rs767813874 0.00003
NM_033064.5(ATCAY):c.283G>A (p.Val95Met) rs1381590154 0.00003
NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr) rs537155754 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser) rs757909936 0.00003
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766 0.00003
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp) rs201068640 0.00003
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser) rs55691060 0.00003
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys) rs745707260 0.00003
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr) rs748145509 0.00003
NM_052989.3(IFT122):c.*16C>T rs763993447 0.00003
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) rs376362722 0.00003
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln) rs754808589 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys) rs778449955 0.00003
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00003
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_133378.4(TTN):c.45878-4A>G rs772324772 0.00003
NM_133379.5(TTN):c.10649G>A (p.Arg3550Gln) rs189154521 0.00003
NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter) rs755956493 0.00003
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val) rs727504687 0.00003
NM_133379.5(TTN):c.15488G>A (p.Arg5163His) rs150492317 0.00003
NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter) rs1450038140 0.00003
NM_133379.5(TTN):c.16003G>A (p.Glu5335Lys) rs1485174648 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala) rs946155355 0.00003
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.413G>A (p.Arg138His) rs763535974 0.00003
NM_138387.4(G6PC3):c.574A>G (p.Met192Val) rs774843962 0.00003
NM_138387.4(G6PC3):c.581G>A (p.Arg194Gln) rs759401453 0.00003
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) rs768565958 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_138691.3(TMC1):c.*26G>C rs191962062 0.00003
NM_138691.3(TMC1):c.-385G>A rs939516320 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.910G>A (p.Gly304Arg) rs1008565149 0.00003
NM_138694.4(PKHD1):c.*1257G>A rs886061604 0.00003
NM_138694.4(PKHD1):c.*3444G>A rs772732172 0.00003
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn) rs778583323 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.10924A>G (p.Met3642Val) rs747283913 0.00003
NM_138694.4(PKHD1):c.11131G>A (p.Gly3711Arg) rs767963628 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp) rs375680275 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu) rs758871283 0.00003
NM_138694.4(PKHD1):c.1256T>C (p.Val419Ala) rs144526315 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2407+5A>G rs767994974 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu) rs374447352 0.00003
NM_138694.4(PKHD1):c.3137G>C (p.Gly1046Ala) rs374106769 0.00003
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn) rs779094064 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg) rs780740862 0.00003
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) rs750233738 0.00003
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys) rs762702777 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.708-4G>A rs748018742 0.00003
NM_138694.4(PKHD1):c.7192T>G (p.Trp2398Gly) rs762553057 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7575A>C (p.Glu2525Asp) rs756456332 0.00003
NM_138694.4(PKHD1):c.7582G>A (p.Asp2528Asn) rs142487082 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.8410A>G (p.Met2804Val) rs137909186 0.00003
NM_138694.4(PKHD1):c.874A>G (p.Ile292Val) rs367590965 0.00003
NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser) rs1343246818 0.00003
NM_139319.3(SLC17A8):c.*244G>A rs886048791 0.00003
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) rs199746996 0.00003
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) rs372662765 0.00003
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) rs758494519 0.00003
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) rs1342661066 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) rs769724273 0.00003
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) rs779607755 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) rs771506242 0.00003
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) rs199551366 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_144508.5(KNL1):c.*238T>C rs1418447223 0.00003
NM_144508.5(KNL1):c.1429A>G (p.Ile477Val) rs199772806 0.00003
NM_144508.5(KNL1):c.2347G>A (p.Gly783Ser) rs767378783 0.00003
NM_144508.5(KNL1):c.4393G>T (p.Val1465Leu) rs201195268 0.00003
NM_144508.5(KNL1):c.6213-12T>C rs749158981 0.00003
NM_144508.5(KNL1):c.6334G>A (p.Val2112Ile) rs377578399 0.00003
NM_144596.4(TTC8):c.1040G>A (p.Arg347Gln) rs1246614842 0.00003
NM_144596.4(TTC8):c.1542G>A (p.Met514Ile) rs571571526 0.00003
NM_144596.4(TTC8):c.401C>T (p.Thr134Ile) rs982852104 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) rs1377749598 0.00003
NM_145702.4(TIGD1):c.*1798A>G rs1033983635 0.00003
NM_145702.4(TIGD1):c.*2384G>A rs1034629827 0.00003
NM_145861.4(EDARADD):c.*2008G>A rs184215335 0.00003
NM_147127.5(EVC2):c.1111G>A (p.Glu371Lys) rs929810328 0.00003
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr) rs745540572 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_147196.3(TMIE):c.*687C>T rs886058575 0.00003
NM_147196.3(TMIE):c.34G>T (p.Val12Leu) rs397517867 0.00003
NM_148919.4(PSMB8):c.*231C>T rs539015992 0.00003
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln) rs780859553 0.00003
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) rs370849006 0.00003
NM_152384.3(BBS5):c.568C>T (p.His190Tyr) rs1264901746 0.00003
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) rs775524491 0.00003
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys) rs199846010 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser) rs762853916 0.00003
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys) rs543608786 0.00003
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser) rs931117746 0.00003
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser) rs777615072 0.00003
NM_153240.5(NPHP3):c.*1213T>C rs886057994 0.00003
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755 0.00003
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu) rs763699273 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.1903A>G (p.Met635Val) rs145166784 0.00003
NM_153240.5(NPHP3):c.194G>T (p.Gly65Val) rs763361874 0.00003
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856 0.00003
NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys) rs542131508 0.00003
NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val) rs1011685228 0.00003
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys) rs752254827 0.00003
NM_153240.5(NPHP3):c.2978G>A (p.Ser993Asn) rs1060503156 0.00003
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00003
NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala) rs758927671 0.00003
NM_153240.5(NPHP3):c.3339C>A (p.Asp1113Glu) rs768124745 0.00003
NM_153240.5(NPHP3):c.3401G>C (p.Cys1134Ser) rs762890381 0.00003
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg) rs540287231 0.00003
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln) rs769027723 0.00003
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys) rs117171411 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.496C>T (p.His166Tyr) rs367996370 0.00003
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser) rs1032568806 0.00003
NM_153676.4(USH1C):c.570G>A (p.Ser190=) rs756709989 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153704.6(TMEM67):c.*942G>A rs886063177 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_153717.3(EVC):c.*104G>A rs753484436 0.00003
NM_153717.3(EVC):c.*1071G>C rs1397822380 0.00003
NM_153717.3(EVC):c.*1981A>G rs886059516 0.00003
NM_153717.3(EVC):c.*542C>T rs1168888994 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val) rs745728640 0.00003
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys) rs754555322 0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His) rs138111422 0.00003
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00003
NM_170784.3(MKKS):c.923A>G (p.His308Arg) rs967873180 0.00003
NM_173477.5(USH1G):c.*1191G>A rs3859210 0.00003
NM_173477.5(USH1G):c.*831C>T rs977400332 0.00003
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) rs775952116 0.00003
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) rs765655284 0.00003
NM_173551.5(ANKS6):c.1430G>A (p.Arg477His) rs368551263 0.00003
NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) rs201419783 0.00003
NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) rs199671276 0.00003
NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln) rs974222769 0.00003
NM_174878.3(CLRN1):c.*1165C>G rs769315815 0.00003
NM_174878.3(CLRN1):c.*307G>T rs886058091 0.00003
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00003
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser) rs764099313 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp) rs768987725 0.00003
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1746A>G (p.Lys582=) rs1185659710 0.00003
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
NM_176824.3(BBS7):c.908A>T (p.Asp303Val) rs1261951183 0.00003
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) rs764463463 0.00003
NM_178170.3(NEK8):c.*763A>G rs886052772 0.00003
NM_178170.3(NEK8):c.1179C>G (p.Ile393Met) rs775138270 0.00003
NM_178170.3(NEK8):c.48-10G>A rs769058088 0.00003
NM_182548.4(LHFPL5):c.*516T>A rs1412945427 0.00003
NM_182548.4(LHFPL5):c.-161A>G rs886061342 0.00003
NM_182548.4(LHFPL5):c.-30G>C rs375993440 0.00003
NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala) rs886061344 0.00003
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028 0.00003
NM_182961.4(SYNE1):c.-361G>T rs886061221 0.00003
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu) rs374839445 0.00003
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln) rs139691734 0.00003
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile) rs755180412 0.00003
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln) rs192623867 0.00003
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp) rs777447487 0.00003
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile) rs201487756 0.00003
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624 0.00003
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys) rs879779013 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=) rs760332489 0.00003
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) rs771461121 0.00003
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=) rs1272129870 0.00003
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu) rs779969031 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His) rs768085752 0.00003
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg) rs375344467 0.00003
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His) rs748256440 0.00003
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397 0.00003
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe) rs753473819 0.00003
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn) rs762502490 0.00003
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys) rs755654863 0.00003
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly) rs375432465 0.00003
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg) rs797046023 0.00003
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala) rs886044412 0.00003
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser) rs374220794 0.00003
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro) rs373679435 0.00003
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val) rs766395351 0.00003
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr) rs774189380 0.00003
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr) rs765300968 0.00003
NM_182961.4(SYNE1):c.17774A>G (p.Tyr5925Cys) rs759380758 0.00003
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln) rs777432650 0.00003
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys) rs528094877 0.00003
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673 0.00003
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser) rs149624155 0.00003
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107 0.00003
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys) rs551488589 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys) rs758182381 0.00003
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala) rs769384397 0.00003
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys) rs758159968 0.00003
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln) rs768605521 0.00003
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329 0.00003
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met) rs553508431 0.00003
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln) rs140360127 0.00003
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys) rs370571896 0.00003
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) rs139384691 0.00003
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007 0.00003
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=) rs762665527 0.00003
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu) rs139062689 0.00003
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu) rs766914765 0.00003
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly) rs759479600 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile) rs777920461 0.00003
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) rs752057121 0.00003
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys) rs549357903 0.00003
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp) rs755302191 0.00003
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val) rs372246112 0.00003
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu) rs749743156 0.00003
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys) rs761198027 0.00003
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg) rs371656793 0.00003
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp) rs749900550 0.00003
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val) rs1055043180 0.00003
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr) rs780029496 0.00003
NM_182961.4(SYNE1):c.2394+5G>A rs199933019 0.00003
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly) rs766207775 0.00003
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779 0.00003
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264 0.00003
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg) rs756023993 0.00003
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys) rs373016793 0.00003
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val) rs147285387 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met) rs777634676 0.00003
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu) rs188852595 0.00003
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013 0.00003
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu) rs748328529 0.00003
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004 0.00003
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg) rs1395937709 0.00003
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn) rs990137456 0.00003
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala) rs764928878 0.00003
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe) rs886061212 0.00003
NM_182961.4(SYNE1):c.3691T>C (p.Phe1231Leu) rs146403390 0.00003
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala) rs141164314 0.00003
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe) rs544182159 0.00003
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His) rs142705233 0.00003
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys) rs373642960 0.00003
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val) rs138691290 0.00003
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys) rs148885424 0.00003
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg) rs567913785 0.00003
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys) rs184779168 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102 0.00003
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr) rs764200857 0.00003
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His) rs759461786 0.00003
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile) rs747633088 0.00003
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274 0.00003
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser) rs146916975 0.00003
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400 0.00003
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln) rs747634832 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met) rs548283137 0.00003
NM_194248.3(OTOF):c.*769G>C rs1157863176 0.00003
NM_194248.3(OTOF):c.*770T>A rs886055872 0.00003
NM_194248.3(OTOF):c.-64G>A rs886055881 0.00003
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.2605G>T (p.Asp869Tyr) rs886055877 0.00003
NM_194248.3(OTOF):c.4908G>A (p.Val1636=) rs769992835 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.660G>A (p.Ser220=) rs745785393 0.00003
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1264G>T (p.Asp422Tyr) rs140198337 0.00003
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys) rs765846163 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp) rs368526968 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) rs746307301 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) rs751018219 0.00003
NM_201253.3(CRB1):c.2874C>T (p.Ser958=) rs372778560 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) rs147924782 0.00003
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) rs754054234 0.00003
NM_201384.3(PLEC):c.10120G>A (p.Ala3374Thr) rs782210150 0.00003
NM_201384.3(PLEC):c.10217G>A (p.Arg3406His) rs782495077 0.00003
NM_201384.3(PLEC):c.1023C>T (p.Gly341=) rs782793041 0.00003
NM_201384.3(PLEC):c.10388G>A (p.Arg3463His) rs201698549 0.00003
NM_201384.3(PLEC):c.10408G>A (p.Ala3470Thr) rs377602333 0.00003
NM_201384.3(PLEC):c.10445G>A (p.Arg3482His) rs548876454 0.00003
NM_201384.3(PLEC):c.10471C>T (p.Arg3491Cys) rs766953306 0.00003
NM_201384.3(PLEC):c.10508C>T (p.Ala3503Val) rs371006283 0.00003
NM_201384.3(PLEC):c.10586G>A (p.Arg3529Gln) rs199815198 0.00003
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln) rs369570610 0.00003
NM_201384.3(PLEC):c.10960G>A (p.Glu3654Lys) rs201100252 0.00003
NM_201384.3(PLEC):c.10967G>A (p.Arg3656Gln) rs370136466 0.00003
NM_201384.3(PLEC):c.11060A>G (p.Tyr3687Cys) rs782661646 0.00003
NM_201384.3(PLEC):c.11095G>A (p.Gly3699Ser) rs372372955 0.00003
NM_201384.3(PLEC):c.11257G>A (p.Val3753Met) rs782803934 0.00003
NM_201384.3(PLEC):c.11278C>T (p.Arg3760Cys) rs782414508 0.00003
NM_201384.3(PLEC):c.11533A>G (p.Ser3845Gly) rs782125549 0.00003
NM_201384.3(PLEC):c.11588G>A (p.Arg3863Gln) rs781893455 0.00003
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser) rs782123116 0.00003
NM_201384.3(PLEC):c.11633C>T (p.Ser3878Leu) rs782567022 0.00003
NM_201384.3(PLEC):c.11723C>T (p.Ala3908Val) rs367564112 0.00003
NM_201384.3(PLEC):c.11836C>T (p.Arg3946Trp) rs782773454 0.00003
NM_201384.3(PLEC):c.11839C>T (p.Leu3947Phe) rs781943720 0.00003
NM_201384.3(PLEC):c.11932G>A (p.Asp3978Asn) rs369738267 0.00003
NM_201384.3(PLEC):c.12025C>T (p.Arg4009Cys) rs989279969 0.00003
NM_201384.3(PLEC):c.12142G>A (p.Ala4048Thr) rs782570858 0.00003
NM_201384.3(PLEC):c.1214C>T (p.Ala405Val) rs377430087 0.00003
NM_201384.3(PLEC):c.12443C>T (p.Thr4148Met) rs199756948 0.00003
NM_201384.3(PLEC):c.12589C>T (p.Arg4197Cys) rs568673535 0.00003
NM_201384.3(PLEC):c.12650C>T (p.Ser4217Leu) rs782268573 0.00003
NM_201384.3(PLEC):c.12683C>G (p.Ser4228Cys) rs886044804 0.00003
NM_201384.3(PLEC):c.12691G>A (p.Glu4231Lys) rs782341944 0.00003
NM_201384.3(PLEC):c.12703A>G (p.Met4235Val) rs782479828 0.00003
NM_201384.3(PLEC):c.12886G>A (p.Glu4296Lys) rs782071585 0.00003
NM_201384.3(PLEC):c.13126A>G (p.Lys4376Glu) rs782467077 0.00003
NM_201384.3(PLEC):c.13219C>G (p.Pro4407Ala) rs782818956 0.00003
NM_201384.3(PLEC):c.13241G>A (p.Arg4414His) rs373265918 0.00003
NM_201384.3(PLEC):c.13376C>T (p.Thr4459Met) rs1294742803 0.00003
NM_201384.3(PLEC):c.13403C>T (p.Ala4468Val) rs782730756 0.00003
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser) rs373807877 0.00003
NM_201384.3(PLEC):c.13493G>A (p.Arg4498Gln) rs782435339 0.00003
NM_201384.3(PLEC):c.1366G>A (p.Val456Met) rs782655007 0.00003
NM_201384.3(PLEC):c.1472G>A (p.Arg491Gln) rs781938961 0.00003
NM_201384.3(PLEC):c.1705C>T (p.Arg569Trp) rs532321410 0.00003
NM_201384.3(PLEC):c.1939C>T (p.Arg647Cys) rs201238023 0.00003
NM_201384.3(PLEC):c.2042G>A (p.Arg681Gln) rs561259506 0.00003
NM_201384.3(PLEC):c.2082+6G>A rs782596727 0.00003
NM_201384.3(PLEC):c.2371G>A (p.Val791Ile) rs562442802 0.00003
NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser) rs782532633 0.00003
NM_201384.3(PLEC):c.256G>A (p.Asp86Asn) rs782107862 0.00003
NM_201384.3(PLEC):c.2743C>T (p.Arg915Cys) rs376236283 0.00003
NM_201384.3(PLEC):c.2828C>T (p.Ala943Val) rs373846942 0.00003
NM_201384.3(PLEC):c.2951G>A (p.Arg984His) rs782740422 0.00003
NM_201384.3(PLEC):c.3029C>T (p.Pro1010Leu) rs782808621 0.00003
NM_201384.3(PLEC):c.3124C>T (p.Arg1042Trp) rs367740468 0.00003
NM_201384.3(PLEC):c.3170C>T (p.Ser1057Leu) rs782710264 0.00003
NM_201384.3(PLEC):c.3304G>A (p.Glu1102Lys) rs782023030 0.00003
NM_201384.3(PLEC):c.3407G>A (p.Arg1136Gln) rs782508056 0.00003
NM_201384.3(PLEC):c.342+5G>A rs782706346 0.00003
NM_201384.3(PLEC):c.3449G>A (p.Arg1150Gln) rs782638887 0.00003
NM_201384.3(PLEC):c.3598C>T (p.Arg1200Cys) rs551443621 0.00003
NM_201384.3(PLEC):c.3619C>T (p.Arg1207Cys) rs782816670 0.00003
NM_201384.3(PLEC):c.3796G>A (p.Glu1266Lys) rs377647607 0.00003
NM_201384.3(PLEC):c.3896C>T (p.Pro1299Leu) rs201955391 0.00003
NM_201384.3(PLEC):c.4027C>T (p.Arg1343Cys) rs376359597 0.00003
NM_201384.3(PLEC):c.4313G>A (p.Arg1438Gln) rs782642707 0.00003
NM_201384.3(PLEC):c.4334G>A (p.Arg1445His) rs782421383 0.00003
NM_201384.3(PLEC):c.4714C>T (p.Arg1572Cys) rs375608517 0.00003
NM_201384.3(PLEC):c.4756G>A (p.Ala1586Thr) rs781801524 0.00003
NM_201384.3(PLEC):c.4819C>T (p.Arg1607Trp) rs781818101 0.00003
NM_201384.3(PLEC):c.4870C>T (p.Arg1624Cys) rs782663079 0.00003
NM_201384.3(PLEC):c.4916A>G (p.Asn1639Ser) rs781995370 0.00003
NM_201384.3(PLEC):c.4990A>G (p.Lys1664Glu) rs782318719 0.00003
NM_201384.3(PLEC):c.5122C>T (p.Arg1708Cys) rs1455649324 0.00003
NM_201384.3(PLEC):c.5150G>A (p.Arg1717Gln) rs150384680 0.00003
NM_201384.3(PLEC):c.5155C>T (p.Arg1719Trp) rs782367966 0.00003
NM_201384.3(PLEC):c.5156G>A (p.Arg1719Gln) rs782270594 0.00003
NM_201384.3(PLEC):c.5185C>T (p.Arg1729Trp) rs538896644 0.00003
NM_201384.3(PLEC):c.5249G>T (p.Arg1750Leu) rs782302326 0.00003
NM_201384.3(PLEC):c.5266G>A (p.Glu1756Lys) rs782212761 0.00003
NM_201384.3(PLEC):c.5384G>A (p.Arg1795Gln) rs782414627 0.00003
NM_201384.3(PLEC):c.5405A>G (p.Glu1802Gly) rs782521341 0.00003
NM_201384.3(PLEC):c.5474C>T (p.Ala1825Val) rs781844059 0.00003
NM_201384.3(PLEC):c.5549C>T (p.Thr1850Met) rs534267486 0.00003
NM_201384.3(PLEC):c.5636G>A (p.Arg1879Gln) rs781997724 0.00003
NM_201384.3(PLEC):c.5705C>T (p.Ser1902Leu) rs781817576 0.00003
NM_201384.3(PLEC):c.5723G>A (p.Arg1908Gln) rs369142466 0.00003
NM_201384.3(PLEC):c.5786C>T (p.Ala1929Val) rs782578967 0.00003
NM_201384.3(PLEC):c.5815G>A (p.Ala1939Thr) rs375422079 0.00003
NM_201384.3(PLEC):c.5848C>T (p.Arg1950Cys) rs566539439 0.00003
NM_201384.3(PLEC):c.5863G>A (p.Ala1955Thr) rs200374705 0.00003
NM_201384.3(PLEC):c.5989G>A (p.Glu1997Lys) rs373454032 0.00003
NM_201384.3(PLEC):c.6004C>T (p.Arg2002Trp) rs782502722 0.00003
NM_201384.3(PLEC):c.6074G>A (p.Arg2025Gln) rs546512137 0.00003
NM_201384.3(PLEC):c.6346C>T (p.Arg2116Trp) rs142322521 0.00003
NM_201384.3(PLEC):c.6359C>T (p.Ser2120Leu) rs782430297 0.00003
NM_201384.3(PLEC):c.6440C>T (p.Ala2147Val) rs201351000 0.00003
NM_201384.3(PLEC):c.6472C>T (p.Arg2158Trp) rs782316323 0.00003
NM_201384.3(PLEC):c.6473G>A (p.Arg2158Gln) rs782196935 0.00003
NM_201384.3(PLEC):c.6520G>A (p.Ala2174Thr) rs782018578 0.00003
NM_201384.3(PLEC):c.6545C>T (p.Ala2182Val) rs375380578 0.00003
NM_201384.3(PLEC):c.6632G>A (p.Arg2211Gln) rs782310253 0.00003
NM_201384.3(PLEC):c.6662G>A (p.Arg2221His) rs782458946 0.00003
NM_201384.3(PLEC):c.6782A>G (p.Asn2261Ser) rs200272804 0.00003
NM_201384.3(PLEC):c.694G>A (p.Val232Met) rs1212780465 0.00003
NM_201384.3(PLEC):c.7056G>T (p.Gln2352His) rs1267513023 0.00003
NM_201384.3(PLEC):c.7100C>T (p.Thr2367Met) rs782618173 0.00003
NM_201384.3(PLEC):c.7163G>A (p.Arg2388His) rs372811597 0.00003
NM_201384.3(PLEC):c.7213C>T (p.Arg2405Cys) rs782579294 0.00003
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln) rs782618396 0.00003
NM_201384.3(PLEC):c.7514G>A (p.Arg2505Gln) rs782664854 0.00003
NM_201384.3(PLEC):c.7569G>T (p.Glu2523Asp) rs369185645 0.00003
NM_201384.3(PLEC):c.7639C>T (p.Arg2547Trp) rs782242954 0.00003
NM_201384.3(PLEC):c.7687G>A (p.Glu2563Lys) rs782130041 0.00003
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) rs199995144 0.00003
NM_201384.3(PLEC):c.7836_7838del (p.Glu2614del) rs781936703 0.00003
NM_201384.3(PLEC):c.7909G>A (p.Ala2637Thr) rs782010111 0.00003
NM_201384.3(PLEC):c.791G>A (p.Arg264His) rs781893683 0.00003
NM_201384.3(PLEC):c.7948C>T (p.Arg2650Trp) rs375555915 0.00003
NM_201384.3(PLEC):c.797C>T (p.Pro266Leu) rs782324328 0.00003
NM_201384.3(PLEC):c.8047G>A (p.Ala2683Thr) rs533910619 0.00003
NM_201384.3(PLEC):c.8083C>T (p.Arg2695Cys) rs782025300 0.00003
NM_201384.3(PLEC):c.8170G>A (p.Gly2724Ser) rs782189332 0.00003
NM_201384.3(PLEC):c.8306C>T (p.Ser2769Leu) rs368412208 0.00003
NM_201384.3(PLEC):c.8431G>A (p.Ala2811Thr) rs782670428 0.00003
NM_201384.3(PLEC):c.8521C>T (p.Arg2841Cys) rs539060494 0.00003
NM_201384.3(PLEC):c.8738C>T (p.Pro2913Leu) rs782043368 0.00003
NM_201384.3(PLEC):c.8750T>G (p.Phe2917Cys) rs782357952 0.00003
NM_201384.3(PLEC):c.8815C>T (p.Arg2939Trp) rs782575301 0.00003
NM_201384.3(PLEC):c.8840C>T (p.Thr2947Met) rs782130064 0.00003
NM_201384.3(PLEC):c.8932C>T (p.Arg2978Cys) rs782297488 0.00003
NM_201384.3(PLEC):c.8980C>T (p.Arg2994Cys) rs782044314 0.00003
NM_201384.3(PLEC):c.9005G>A (p.Arg3002Gln) rs782565838 0.00003
NM_201384.3(PLEC):c.9454G>A (p.Val3152Met) rs781854050 0.00003
NM_201384.3(PLEC):c.9479G>A (p.Arg3160Gln) rs782280714 0.00003
NM_201384.3(PLEC):c.9616G>A (p.Gly3206Arg) rs782594100 0.00003
NM_201384.3(PLEC):c.9632C>T (p.Pro3211Leu) rs781793644 0.00003
NM_201384.3(PLEC):c.9644A>G (p.Lys3215Arg) rs782508927 0.00003
NM_201384.3(PLEC):c.9755C>T (p.Thr3252Met) rs781828296 0.00003
NM_201384.3(PLEC):c.9874G>A (p.Val3292Met) rs782650325 0.00003
NM_201384.3(PLEC):c.9898C>G (p.Gln3300Glu) rs375796882 0.00003
NM_201384.3(PLEC):c.9941C>T (p.Ala3314Val) rs370238652 0.00003
NM_203486.3(DLL3):c.1758+20C>G rs778339882 0.00003
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu) rs777959748 0.00003
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr) rs202009522 0.00003
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969 0.00003
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala) rs760024584 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) rs376077079 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val) rs755573653 0.00003
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) rs201332729 0.00003
NM_206933.4(USH2A):c.1652G>A (p.Arg551His) rs746477843 0.00003
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp) rs370882987 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val) rs768141777 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe) rs779530910 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.4627+686T>A rs977631162 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) rs145647517 0.00003
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly) rs775877218 0.00003
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096 0.00003
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp) rs149606872 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg) rs1048653046 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg) rs149027999 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_207361.6(FREM2):c.*2458G>C rs886050203 0.00003
NM_207361.6(FREM2):c.*4663A>G rs554972713 0.00003
NM_207361.6(FREM2):c.*5187C>G rs556158747 0.00003
NM_207361.6(FREM2):c.*6149A>G rs183570508 0.00003
NM_207361.6(FREM2):c.2207G>A (p.Arg736Gln) rs201173265 0.00003
NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu) rs369891021 0.00003
NM_207361.6(FREM2):c.4768A>C (p.Met1590Leu) rs199597019 0.00003
NM_207361.6(FREM2):c.6095G>A (p.Arg2032Lys) rs780547800 0.00003
NM_207361.6(FREM2):c.9125A>G (p.Lys3042Arg) rs200408567 0.00003
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser) rs139344099 0.00003
NM_213599.3(ANO5):c.11C>G (p.Pro4Arg) rs376116831 0.00003
NM_213599.3(ANO5):c.1227A>G (p.Glu409=) rs781554633 0.00003
NM_213599.3(ANO5):c.1312A>C (p.Lys438Gln) rs761417429 0.00003
NM_213599.3(ANO5):c.1387G>A (p.Gly463Arg) rs776193177 0.00003
NM_213599.3(ANO5):c.1407+6C>A rs748023499 0.00003
NM_213599.3(ANO5):c.1880T>C (p.Ile627Thr) rs766811349 0.00003
NM_213599.3(ANO5):c.2039T>C (p.Phe680Ser) rs777640863 0.00003
NM_213599.3(ANO5):c.2396G>A (p.Arg799Gln) rs747460085 0.00003
NM_213599.3(ANO5):c.2489C>T (p.Ala830Val) rs766853141 0.00003
NM_213599.3(ANO5):c.2675C>T (p.Ser892Phe) rs754663101 0.00003
NM_213599.3(ANO5):c.2689A>C (p.Lys897Gln) rs1474144803 0.00003
NM_213599.3(ANO5):c.31G>A (p.Ala11Thr) rs1373002417 0.00003
NM_213599.3(ANO5):c.416T>C (p.Val139Ala) rs758319655 0.00003
NM_213599.3(ANO5):c.44A>G (p.Glu15Gly) rs886042647 0.00003
NM_213599.3(ANO5):c.457A>G (p.Ile153Val) rs780988638 0.00003
NM_213599.3(ANO5):c.561T>A (p.Phe187Leu) rs754808979 0.00003
NM_213599.3(ANO5):c.581A>G (p.His194Arg) rs146418790 0.00003
NM_213599.3(ANO5):c.696G>A (p.Lys232=) rs773606619 0.00003
NM_213599.3(ANO5):c.736T>C (p.Tyr246His) rs1219063834 0.00003
NM_213599.3(ANO5):c.788C>T (p.Pro263Leu) rs754281591 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NR_003051.3(RMRP):n.-21A>C rs563106486 0.00003
NR_003051.3(RMRP):n.-26A>G rs1479868789 0.00003
NR_003051.4(RMRP):n.140C>T rs746248517 0.00003
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.187C>T rs1051076135 0.00003
NR_003051.4(RMRP):n.194C>T rs1045976155 0.00003
NR_003051.4(RMRP):n.204C>T rs964504772 0.00003
NR_003051.4(RMRP):n.206C>T rs925085494 0.00003
NR_003051.4(RMRP):n.214G>A rs145720742 0.00003
NR_003051.4(RMRP):n.233G>A rs774897161 0.00003
NR_003051.4(RMRP):n.263C>G rs533294975 0.00003
NM_000019.3(ACAT1):c.*365C>T rs145398051 0.00002
NM_000019.3(ACAT1):c.*393A>G rs886047601 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala) rs746059964 0.00002
NM_000019.4(ACAT1):c.990A>G (p.Val330=) rs764361167 0.00002
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln) rs779834721 0.00002
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr) rs375692868 0.00002
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu) rs753180048 0.00002
NM_000023.4(SGCA):c.230G>A (p.Arg77His) rs369340251 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000023.4(SGCA):c.312+5C>T rs377006294 0.00002
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 0.00002
NM_000023.4(SGCA):c.724G>A (p.Val242Ile) rs200166783 0.00002
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr) rs556577644 0.00002
NM_000057.4(BLM):c.1208A>G (p.Gln403Arg) rs375342874 0.00002
NM_000057.4(BLM):c.1235C>T (p.Thr412Met) rs775209685 0.00002
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382 0.00002
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro) rs1033751385 0.00002
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385 0.00002
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) rs748567176 0.00002
NM_000057.4(BLM):c.203C>A (p.Thr68Asn) rs144134597 0.00002
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp) rs771864442 0.00002
NM_000057.4(BLM):c.2171T>C (p.Val724Ala) rs750687788 0.00002
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) rs779746222 0.00002
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) rs763827222 0.00002
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314 0.00002
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser) rs966788239 0.00002
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg) rs1427273201 0.00002
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg) rs755282763 0.00002
NM_000057.4(BLM):c.3305A>G (p.His1102Arg) rs778994524 0.00002
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp) rs150784889 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala) rs781396294 0.00002
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu) rs372134818 0.00002
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr) rs1280067298 0.00002
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000057.4(BLM):c.397G>A (p.Asp133Asn) rs762621627 0.00002
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr) rs761320085 0.00002
NM_000057.4(BLM):c.4237T>C (p.Ser1413Pro) rs767443059 0.00002
NM_000057.4(BLM):c.467A>G (p.Asp156Gly) rs772175681 0.00002
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553 0.00002
NM_000057.4(BLM):c.493A>T (p.Thr165Ser) rs769575660 0.00002
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr) rs750551907 0.00002
NM_000057.4(BLM):c.914C>G (p.Pro305Arg) rs773421970 0.00002
NM_000067.3(CA2):c.-53G>T rs886063148 0.00002
NM_000070.3(CAPN3):c.*375C>T rs1399469008 0.00002
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703 0.00002
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His) rs376273996 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=) rs751429914 0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=) rs367855757 0.00002
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val) rs756657325 0.00002
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu) rs749614603 0.00002
NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr) rs762776236 0.00002
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser) rs398123145 0.00002
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup) rs753836989 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln) rs201155077 0.00002
NM_000082.4(ERCC8):c.*763A>C rs886060717 0.00002
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys) rs373783755 0.00002
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818 0.00002
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) rs760693424 0.00002
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 0.00002
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr) rs764347321 0.00002
NM_000083.3(CLCN1):c.392T>C (p.Val131Ala) rs769391461 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu) rs759579342 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) rs371173786 0.00002
NM_000092.5(COL4A4):c.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg) rs764465049 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.2908C>G (p.Gln970Glu) rs372413045 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp) rs137877463 0.00002
NM_000123.4(ERCC5):c.1955-6G>A rs371527587 0.00002
NM_000123.4(ERCC5):c.2320-15C>T rs886049940 0.00002
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) rs770975661 0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) rs375404851 0.00002
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) rs780506840 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) rs770177920 0.00002
NM_000124.4(ERCC6):c.-32G>A rs1215179845 0.00002
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp) rs375995821 0.00002
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro) rs765252538 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000163.5(GHR):c.*474C>A rs1007140367 0.00002
NM_000163.5(GHR):c.1899G>A (p.Leu633=) rs758515730 0.00002
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys) rs770255396 0.00002
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser) rs748301943 0.00002
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln) rs753488664 0.00002
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu) rs200189360 0.00002
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp) rs765906787 0.00002
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu) rs770016889 0.00002
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr) rs759957436 0.00002
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser) rs766482364 0.00002
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys) rs1328542671 0.00002
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln) rs750153057 0.00002
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys) rs558294899 0.00002
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln) rs201388569 0.00002
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp) rs145420245 0.00002
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met) rs375727197 0.00002
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val) rs1189392055 0.00002
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) rs776083430 0.00002
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=) rs749863195 0.00002
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp) rs890569519 0.00002
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu) rs528169554 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000208.4(INSR):c.*280G>A rs886054685 0.00002
NM_000208.4(INSR):c.1810C>T (p.Arg604Trp) rs777486535 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000208.4(INSR):c.261C>T (p.Tyr87=) rs145884847 0.00002
NM_000208.4(INSR):c.2848G>A (p.Val950Ile) rs139944962 0.00002
NM_000208.4(INSR):c.345C>T (p.Phe115=) rs374952799 0.00002
NM_000208.4(INSR):c.3669C>T (p.Gly1223=) rs750713967 0.00002
NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala) rs55875349 0.00002
NM_000211.5(ITGB2):c.1024G>A (p.Val342Met) rs759487369 0.00002
NM_000211.5(ITGB2):c.1117G>A (p.Ala373Thr) rs752903416 0.00002
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=) rs754762370 0.00002
NM_000211.5(ITGB2):c.1165G>A (p.Gly389Arg) rs372510204 0.00002
NM_000211.5(ITGB2):c.1223C>T (p.Pro408Leu) rs763860990 0.00002
NM_000211.5(ITGB2):c.1655C>T (p.Pro552Leu) rs201000019 0.00002
NM_000211.5(ITGB2):c.172G>A (p.Asp58Asn) rs1439079846 0.00002
NM_000211.5(ITGB2):c.1760G>A (p.Arg587His) rs772406915 0.00002
NM_000211.5(ITGB2):c.176C>T (p.Ser59Phe) rs1038389954 0.00002
NM_000211.5(ITGB2):c.1784G>A (p.Arg595Gln) rs750019280 0.00002
NM_000211.5(ITGB2):c.2027T>A (p.Leu676Gln) rs986681121 0.00002
NM_000211.5(ITGB2):c.213G>C (p.Arg71Ser) rs371854500 0.00002
NM_000211.5(ITGB2):c.2295G>C (p.Lys765Asn) rs750477817 0.00002
NM_000211.5(ITGB2):c.353C>A (p.Thr118Asn) rs758449686 0.00002
NM_000211.5(ITGB2):c.475G>A (p.Glu159Lys) rs765779500 0.00002
NM_000211.5(ITGB2):c.563G>A (p.Arg188Gln) rs1053155608 0.00002
NM_000211.5(ITGB2):c.59-9G>A rs141780263 0.00002
NM_000211.5(ITGB2):c.634A>G (p.Asn212Asp) rs376609171 0.00002
NM_000211.5(ITGB2):c.643A>G (p.Asn215Asp) rs770505759 0.00002
NM_000211.5(ITGB2):c.742-5C>G rs542698586 0.00002
NM_000211.5(ITGB2):c.80A>G (p.Lys27Arg) rs568718880 0.00002
NM_000231.3(SGCG):c.-126C>A rs1411409870 0.00002
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) rs569816696 0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met) rs139072866 0.00002
NM_000231.3(SGCG):c.623G>T (p.Gly208Val) rs778119056 0.00002
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu) rs886158091 0.00002
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro) rs138367908 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser) rs775409967 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000232.5(SGCB):c.668G>A (p.Arg223His) rs754898211 0.00002
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly) rs565410997 0.00002
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys) rs545065102 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.1089C>T (p.Ser363=) rs104895170 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000243.3(MEFV):c.1229G>A (p.Arg410His) rs1399033974 0.00002
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) rs762605919 0.00002
NM_000243.3(MEFV):c.1759+12G>A rs749730274 0.00002
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr) rs369069000 0.00002
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile) rs1028273722 0.00002
NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly) rs138462251 0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=) rs547393490 0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met) rs1422054832 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) rs746092199 0.00002
NM_000243.3(MEFV):c.224G>A (p.Arg75Gln) rs376891162 0.00002
NM_000243.3(MEFV):c.238C>T (p.Arg80Cys) rs766608226 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) rs773320625 0.00002
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys) rs769605806 0.00002
NM_000243.3(MEFV):c.745A>G (p.Thr249Ala) rs764952529 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1636G>A (p.Val546Met) rs774462373 0.00002
NM_000245.4(MET):c.2723A>G (p.Asn908Ser) rs1478309975 0.00002
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) rs1286773616 0.00002
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) rs138876566 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) rs1479249107 0.00002
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) rs775827591 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) rs755894287 0.00002
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) rs368380397 0.00002
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743 0.00002
NM_000260.4(MYO7A):c.1343+7C>T rs782595035 0.00002
NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys) rs567139897 0.00002
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) rs782410686 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520 0.00002
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) rs751034678 0.00002
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) rs782165016 0.00002
NM_000260.4(MYO7A):c.2553C>G (p.Ile851Met) rs986413500 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) rs782279442 0.00002
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732 0.00002
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=) rs782816445 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=) rs782742557 0.00002
NM_000260.4(MYO7A):c.3784G>A (p.Val1262Met) rs370036829 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) rs766245260 0.00002
NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala) rs773962194 0.00002
NM_000260.4(MYO7A):c.4013G>A (p.Arg1338His) rs778477059 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441 0.00002
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) rs777008254 0.00002
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.4852G>A (p.Ala1618Thr) rs772542296 0.00002
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) rs781335672 0.00002
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys) rs751860887 0.00002
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His) rs760544219 0.00002
NM_000260.4(MYO7A):c.5346C>T (p.Gly1782=) rs373822765 0.00002
NM_000260.4(MYO7A):c.5369G>A (p.Arg1790His) rs372016012 0.00002
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) rs746667217 0.00002
NM_000260.4(MYO7A):c.5536C>G (p.Pro1846Ala) rs763456971 0.00002
NM_000260.4(MYO7A):c.5857-3C>A rs727505114 0.00002
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val) rs1387553850 0.00002
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) rs185061452 0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346 0.00002
NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln) rs776881443 0.00002
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1709A>G (p.Tyr570Cys) rs755718928 0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys) rs368129141 0.00002
NM_000271.5(NPC1):c.2240T>C (p.Phe747Ser) rs1490823282 0.00002
NM_000271.5(NPC1):c.2337C>T (p.Phe779=) rs367654655 0.00002
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578 0.00002
NM_000271.5(NPC1):c.2593T>G (p.Ser865Ala) rs977397569 0.00002
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile) rs1019159514 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu) rs755143457 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000271.5(NPC1):c.3547C>T (p.Arg1183Cys) rs755029556 0.00002
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) rs751251790 0.00002
NM_000271.5(NPC1):c.47G>A (p.Cys16Tyr) rs1407142143 0.00002
NM_000271.5(NPC1):c.631+3A>G rs759746113 0.00002
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667 0.00002
NM_000271.5(NPC1):c.916G>A (p.Asp306Asn) rs747243586 0.00002
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.1136T>C (p.Val379Ala) rs746203167 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.442-14C>T rs775806999 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000277.3(PAH):c.74T>C (p.Ile25Thr) rs1355039694 0.00002
NM_000277.3(PAH):c.870T>C (p.His290=) rs751203209 0.00002
NM_000286.3(PEX12):c.*39G>A rs751033919 0.00002
NM_000286.3(PEX12):c.101G>A (p.Arg34Lys) rs770777877 0.00002
NM_000286.3(PEX12):c.166T>C (p.Trp56Arg) rs758005394 0.00002
NM_000286.3(PEX12):c.245T>G (p.Phe82Cys) rs140611267 0.00002
NM_000286.3(PEX12):c.294C>A (p.His98Gln) rs767354075 0.00002
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg) rs376279395 0.00002
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000286.3(PEX12):c.655A>G (p.Ser219Gly) rs773891359 0.00002
NM_000286.3(PEX12):c.724G>A (p.Gly242Ser) rs765982515 0.00002
NM_000286.3(PEX12):c.758T>C (p.Val253Ala) rs773962549 0.00002
NM_000286.3(PEX12):c.903G>C (p.Lys301Asn) rs145574816 0.00002
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile) rs373860467 0.00002
NM_000286.3(PEX12):c.932G>A (p.Arg311Gln) rs780595864 0.00002
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys) rs372033738 0.00002
NM_000287.4(PEX6):c.1361A>G (p.Gln454Arg) rs779171611 0.00002
NM_000287.4(PEX6):c.1370G>T (p.Gly457Val) rs752494573 0.00002
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln) rs773105735 0.00002
NM_000287.4(PEX6):c.1555C>T (p.Arg519Cys) rs924649541 0.00002
NM_000287.4(PEX6):c.1556G>A (p.Arg519His) rs368356719 0.00002
NM_000287.4(PEX6):c.1612C>T (p.Arg538Cys) rs374253469 0.00002
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val) rs370855809 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser) rs543110086 0.00002
NM_000287.4(PEX6):c.2210G>A (p.Arg737His) rs767654358 0.00002
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2612G>A (p.Gly871Glu) rs1460417469 0.00002
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105 0.00002
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.2701G>A (p.Val901Met) rs766523042 0.00002
NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys) rs761395988 0.00002
NM_000287.4(PEX6):c.635T>A (p.Leu212His) rs779822002 0.00002
NM_000287.4(PEX6):c.724G>A (p.Val242Met) rs368915893 0.00002
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu) rs368481812 0.00002
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr) rs370456987 0.00002
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_000288.4(PEX7):c.769G>A (p.Val257Met) rs771916687 0.00002
NM_000288.4(PEX7):c.950C>T (p.Ala317Val) rs541306617 0.00002
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val) rs763906693 0.00002
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.128G>A (p.Arg43His) rs141704997 0.00002
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln) rs150184664 0.00002
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu) rs1485759254 0.00002
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser) rs761352524 0.00002
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser) rs764750668 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln) rs1282397747 0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met) rs377406897 0.00002
NM_000302.4(PLOD1):c.302+5G>A rs749607584 0.00002
NM_000302.4(PLOD1):c.310G>A (p.Val104Met) rs141809154 0.00002
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr) rs1156606108 0.00002
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp) rs746416126 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln) rs776949094 0.00002
NM_000302.4(PLOD1):c.844-6G>T rs767068264 0.00002
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu) rs760230526 0.00002
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp) rs370736543 0.00002
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser) rs200524993 0.00002
NM_000317.3(PTS):c.186+9A>G rs202139885 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000318.3(PEX2):c.181T>C (p.Trp61Arg) rs772704218 0.00002
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr) rs754127143 0.00002
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg) rs773085309 0.00002
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00002
NM_000320.3(QDPR):c.152G>A (p.Ser51Asn) rs187958701 0.00002
NM_000329.3(RPE65):c.*560C>T rs1045301005 0.00002
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.1339-4A>G rs746665921 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.1431T>C (p.Asp477=) rs570518981 0.00002
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 0.00002
NM_000329.3(RPE65):c.353+7G>A rs773557127 0.00002
NM_000329.3(RPE65):c.807T>C (p.Ser269=) rs774896870 0.00002
NM_000334.4(SCN4A):c.-23G>T rs747406998 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000337.6(SGCD):c.*5749C>T rs886060310 0.00002
NM_000337.6(SGCD):c.-44+1G>A rs959438136 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.294+3A>G rs766462865 0.00002
NM_000337.6(SGCD):c.298A>C (p.Asn100His) rs1436273126 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.401C>T (p.Ala134Val) rs776098396 0.00002
NM_000337.6(SGCD):c.575+6C>T rs886044432 0.00002
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe) rs781628137 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 0.00002
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln) rs1488623227 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) rs774965446 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000360.4(TH):c.1084G>A (p.Glu362Lys) rs776917257 0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_000360.4(TH):c.220G>C (p.Glu74Gln) rs748493792 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.386A>C (p.Glu129Ala) rs745829277 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000360.4(TH):c.793C>G (p.Arg265Gly) rs1203763637 0.00002
NM_000360.4(TH):c.98G>A (p.Arg33Gln) rs996766545 0.00002
NM_000370.3(TTPA):c.*1407G>A rs1805273393 0.00002
NM_000370.3(TTPA):c.*286C>G rs886063068 0.00002
NM_000370.3(TTPA):c.202C>A (p.Arg68=) rs973874631 0.00002
NM_000370.3(TTPA):c.522C>T (p.Ser174=) rs772020906 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) rs761448855 0.00002
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.2181G>C (p.Gln727His) rs776945690 0.00002
NM_000414.4(HSD17B4):c.241A>G (p.Lys81Glu) rs1026521515 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.351T>A (p.Asp117Glu) rs200667890 0.00002
NM_000414.4(HSD17B4):c.353T>C (p.Ile118Thr) rs139427751 0.00002
NM_000414.4(HSD17B4):c.376G>A (p.Gly126Ser) rs769066826 0.00002
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) rs369076029 0.00002
NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser) rs563638833 0.00002
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala) rs376917587 0.00002
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00002
NM_000441.2(SLC26A4):c.*120G>A rs776063556 0.00002
NM_000441.2(SLC26A4):c.*840C>T rs886061889 0.00002
NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile) rs180671153 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala) rs745546618 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) rs1048663788 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_000445.5(PLEC):c.131G>A (p.Gly44Asp) rs782602309 0.00002
NM_000445.5(PLEC):c.22G>A (p.Val8Ile) rs1554745729 0.00002
NM_000466.3(PEX1):c.*180A>G rs996832628 0.00002
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg) rs758309091 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763 0.00002
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) rs983157165 0.00002
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00002
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys) rs1198978658 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000492.3(CFTR):c.-837T>C rs1415964307 0.00002
NM_000492.4(CFTR):c.1186A>T (p.Asn396Tyr) rs753143757 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.1405A>G (p.Met469Val) rs397508203 0.00002
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) rs138427145 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) rs755986694 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.2490+5G>T rs764466147 0.00002
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala) rs761531223 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu) rs886186687 0.00002
NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser) rs185397588 0.00002
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr) rs769377991 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) rs759394109 0.00002
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp) rs751474685 0.00002
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) rs752834717 0.00002
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793 0.00002
NM_000492.4(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955 0.00002
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600 0.00002
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu) rs578237673 0.00002
NM_000492.4(CFTR):c.4363T>G (p.Ser1455Ala) rs748845320 0.00002
NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser) rs199827645 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile) rs777520137 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.838G>T (p.Ala280Ser) rs749377803 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.917A>G (p.Asn306Ser) rs746375310 0.00002
NM_000492.4(CFTR):c.964G>A (p.Val322Met) rs1800085 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000506.5(F2):c.882C>T (p.Ala294=) rs370819135 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=) rs774849547 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151 0.00002
NM_000543.5(SMPD1):c.1340+8G>A rs373742012 0.00002
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe) rs1345053174 0.00002
NM_000543.5(SMPD1):c.329A>G (p.Asn110Ser) rs747223735 0.00002
NM_000553.6(WRN):c.-197C>T rs11574159 0.00002
NM_000553.6(WRN):c.1005A>T (p.Glu335Asp) rs770764781 0.00002
NM_000553.6(WRN):c.1024G>A (p.Val342Ile) rs764559021 0.00002
NM_000553.6(WRN):c.1075G>A (p.Gly359Arg) rs1433935133 0.00002
NM_000553.6(WRN):c.1123G>C (p.Glu375Gln) rs745391184 0.00002
NM_000553.6(WRN):c.1159A>G (p.Met387Val) rs370136100 0.00002
NM_000553.6(WRN):c.1187A>G (p.Asp396Gly) rs755298910 0.00002
NM_000553.6(WRN):c.1189A>G (p.Ile397Val) rs767571801 0.00002
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu) rs750052448 0.00002
NM_000553.6(WRN):c.1576+4A>C rs767944222 0.00002
NM_000553.6(WRN):c.1628A>C (p.Tyr543Ser) rs151001436 0.00002
NM_000553.6(WRN):c.1697A>T (p.Asp566Val) rs758649710 0.00002
NM_000553.6(WRN):c.1721-3A>T rs753685410 0.00002
NM_000553.6(WRN):c.1873G>A (p.Glu625Lys) rs1813759748 0.00002
NM_000553.6(WRN):c.1910G>A (p.Arg637Gln) rs1287408422 0.00002
NM_000553.6(WRN):c.2087T>C (p.Met696Thr) rs1246267919 0.00002
NM_000553.6(WRN):c.2302A>G (p.Ile768Val) rs771180836 0.00002
NM_000553.6(WRN):c.2305A>G (p.Ile769Val) rs1278754650 0.00002
NM_000553.6(WRN):c.2450G>C (p.Cys817Ser) rs774308552 0.00002
NM_000553.6(WRN):c.2569C>T (p.Arg857Cys) rs201188293 0.00002
NM_000553.6(WRN):c.2649A>G (p.Ile883Met) rs201806650 0.00002
NM_000553.6(WRN):c.2650C>T (p.Arg884Cys) rs763297475 0.00002
NM_000553.6(WRN):c.2947A>G (p.Ile983Val) rs532588948 0.00002
NM_000553.6(WRN):c.3103A>G (p.Asn1035Asp) rs769756672 0.00002
NM_000553.6(WRN):c.3107A>G (p.Lys1036Arg) rs773176431 0.00002
NM_000553.6(WRN):c.3134A>G (p.Lys1045Arg) rs369095273 0.00002
NM_000553.6(WRN):c.3251C>T (p.Ser1084Leu) rs587778748 0.00002
NM_000553.6(WRN):c.3417T>C (p.Ser1139=) rs752542644 0.00002
NM_000553.6(WRN):c.3427C>G (p.Pro1143Ala) rs1177812319 0.00002
NM_000553.6(WRN):c.3460-7T>A rs1334937558 0.00002
NM_000553.6(WRN):c.350T>C (p.Met117Thr) rs772108759 0.00002
NM_000553.6(WRN):c.3561G>A (p.Met1187Ile) rs1171713712 0.00002
NM_000553.6(WRN):c.3592G>A (p.Val1198Ile) rs147116477 0.00002
NM_000553.6(WRN):c.3613T>C (p.Ser1205Pro) rs368955181 0.00002
NM_000553.6(WRN):c.3686A>C (p.Gln1229Pro) rs369158322 0.00002
NM_000553.6(WRN):c.3805A>G (p.Lys1269Glu) rs746648510 0.00002
NM_000553.6(WRN):c.3830C>G (p.Ala1277Gly) rs199849137 0.00002
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val) rs202129203 0.00002
NM_000553.6(WRN):c.3962G>A (p.Arg1321Gln) rs766042685 0.00002
NM_000553.6(WRN):c.4028T>C (p.Ile1343Thr) rs770796609 0.00002
NM_000553.6(WRN):c.4100G>A (p.Cys1367Tyr) rs781583408 0.00002
NM_000553.6(WRN):c.4129G>A (p.Gly1377Ser) rs760127655 0.00002
NM_000553.6(WRN):c.4217G>A (p.Arg1406Gln) rs758132889 0.00002
NM_000553.6(WRN):c.4223C>T (p.Pro1408Leu) rs764468799 0.00002
NM_000553.6(WRN):c.565C>G (p.Leu189Val) rs1377471795 0.00002
NM_000553.6(WRN):c.587G>A (p.Arg196His) rs561603992 0.00002
NM_000553.6(WRN):c.610C>T (p.Pro204Ser) rs199644081 0.00002
NM_000553.6(WRN):c.632T>C (p.Leu211Pro) rs938648168 0.00002
NM_000553.6(WRN):c.745G>A (p.Asp249Asn) rs758055295 0.00002
NM_000553.6(WRN):c.747C>A (p.Asp249Glu) rs374142752 0.00002
NM_000553.6(WRN):c.836G>A (p.Arg279Gln) rs768400363 0.00002
NM_000553.6(WRN):c.840-13A>G rs1563338476 0.00002
NM_000553.6(WRN):c.998T>G (p.Ile333Ser) rs530437272 0.00002
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) rs369635490 0.00002
NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu) rs200965005 0.00002
NM_000760.4(CSF3R):c.1238C>T (p.Ser413Leu) rs1294098023 0.00002
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) rs948001842 0.00002
NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val) rs781634406 0.00002
NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) rs760231922 0.00002
NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu) rs763022964 0.00002
NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp) rs372318763 0.00002
NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe) rs778281149 0.00002
NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe) rs1650331500 0.00002
NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys) rs150281231 0.00002
NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile) rs371426547 0.00002
NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln) rs138558210 0.00002
NM_000760.4(CSF3R):c.801G>C (p.Glu267Asp) rs141083013 0.00002
NM_000760.4(CSF3R):c.843+3G>A rs373601431 0.00002
NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln) rs758186406 0.00002
NM_000760.4(CSF3R):c.997G>A (p.Ala333Thr) rs750345536 0.00002
NM_000782.5(CYP24A1):c.*1288A>G rs543296744 0.00002
NM_000782.5(CYP24A1):c.*317T>C rs181138149 0.00002
NM_000782.5(CYP24A1):c.1310C>A (p.Pro437His) rs753140812 0.00002
NM_000782.5(CYP24A1):c.397C>G (p.Pro133Ala) rs200891772 0.00002
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 0.00002
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu) rs781360671 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_001013693.3(LDLRAD2):c.*1003C>T rs543277819 0.00002
NM_001013693.3(LDLRAD2):c.*33G>A rs371757519 0.00002
NM_001017420.3(ESCO2):c.*261T>A rs886062869 0.00002
NM_001017420.3(ESCO2):c.*538A>G rs1472702455 0.00002
NM_001017420.3(ESCO2):c.447A>G (p.Gln149=) rs886062858 0.00002
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) rs143553764 0.00002
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) rs200158965 0.00002
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) rs545361604 0.00002
NM_001023570.4(IQCB1):c.1304G>A (p.Arg435His) rs146832128 0.00002
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) rs377265463 0.00002
NM_001023570.4(IQCB1):c.1367T>G (p.Val456Gly) rs1456257526 0.00002
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) rs147708058 0.00002
NM_001023570.4(IQCB1):c.155A>G (p.Asp52Gly) rs763814255 0.00002
NM_001023570.4(IQCB1):c.1567+5del rs1318948819 0.00002
NM_001023570.4(IQCB1):c.1634T>C (p.Val545Ala) rs753029218 0.00002
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) rs1283756243 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.877-8C>G rs779916519 0.00002
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) rs377524012 0.00002
NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=) rs772209957 0.00002
NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) rs780554525 0.00002
NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp) rs771692758 0.00002
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg) rs1257896833 0.00002
NM_001040167.2(LFNG):c.1022G>A (p.Arg341Gln) rs201290357 0.00002
NM_001040167.2(LFNG):c.506C>T (p.Ser169Leu) rs371707730 0.00002
NM_001040167.2(LFNG):c.521G>A (p.Arg174His) rs771675182 0.00002
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met) rs572997548 0.00002
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00002
NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=) rs543717406 0.00002
NM_001044385.3(TMEM237):c.137-3T>C rs540193518 0.00002
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) rs1269827788 0.00002
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser) rs372581479 0.00002
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu) rs17856844 0.00002
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp) rs754056989 0.00002
NM_001048166.1(STIL):c.2829G>C (p.Leu943Phe) rs1004635364 0.00002
NM_001048166.1(STIL):c.3494T>C (p.Leu1165Pro) rs780930663 0.00002
NM_001048166.1(STIL):c.3699C>T (p.Thr1233=) rs763127279 0.00002
NM_001048166.1(STIL):c.521A>G (p.His174Arg) rs1200154075 0.00002
NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys) rs773370513 0.00002
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His) rs373803765 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.1277A>C (p.Gln426Pro) rs747614763 0.00002
NM_001048174.2(MUTYH):c.1321G>A (p.Val441Ile) rs779701238 0.00002
NM_001048174.2(MUTYH):c.1512C>A (p.Phe504Leu) rs768671057 0.00002
NM_001048174.2(MUTYH):c.213C>G (p.Ser71Arg) rs752209909 0.00002
NM_001048174.2(MUTYH):c.439G>T (p.Ala147Ser) rs770478980 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645 0.00002
NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn) rs757080586 0.00002
NM_001048174.2(MUTYH):c.83A>G (p.Asn28Ser) rs563275223 0.00002
NM_001048174.2(MUTYH):c.877G>A (p.Gly293Arg) rs765686051 0.00002
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001077365.2(POMT1):c.*64T>A rs892418533 0.00002
NM_001077365.2(POMT1):c.*693C>T rs886063541 0.00002
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu) rs376258733 0.00002
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu) rs761293717 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) rs763756593 0.00002
NM_001077365.2(POMT1):c.1510C>T (p.Arg504Trp) rs151183697 0.00002
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu) rs755804404 0.00002
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718 0.00002
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995 0.00002
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu) rs747343582 0.00002
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.559T>C (p.Trp187Arg) rs919881583 0.00002
NM_001077365.2(POMT1):c.640G>A (p.Val214Met) rs778740383 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.699+27G>A rs374516244 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001077418.3(TMEM231):c.-17G>A rs768513169 0.00002
NM_001077418.3(TMEM231):c.139+17C>T rs759518508 0.00002
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) rs771783989 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser) rs775968168 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr) rs768932063 0.00002
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val) rs778298588 0.00002
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys) rs374279951 0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr) rs775383043 0.00002
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu) rs761280513 0.00002
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp) rs770715825 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln) rs775817146 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001080414.4(CCDC88C):c.3358-5G>A rs762398207 0.00002
NM_001080414.4(CCDC88C):c.5281G>A (p.Glu1761Lys) rs761288523 0.00002
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001083961.2(WDR62):c.1169A>G (p.Asp390Gly) rs781151383 0.00002
NM_001083961.2(WDR62):c.1479C>T (p.Ala493=) rs150656878 0.00002
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_001083961.2(WDR62):c.1534C>G (p.Arg512Gly) rs201993064 0.00002
NM_001083961.2(WDR62):c.2515C>T (p.Arg839Trp) rs377731205 0.00002
NM_001083961.2(WDR62):c.2896G>A (p.Gly966Arg) rs587784550 0.00002
NM_001083961.2(WDR62):c.3066G>A (p.Ser1022=) rs3746269 0.00002
NM_001083961.2(WDR62):c.3698C>G (p.Ser1233Cys) rs587784560 0.00002
NM_001083961.2(WDR62):c.3878C>A (p.Ala1293Asp) rs868263026 0.00002
NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His) rs372272053 0.00002
NM_001083961.2(WDR62):c.4464G>A (p.Pro1488=) rs754718956 0.00002
NM_001083961.2(WDR62):c.984C>T (p.Leu328=) rs200298843 0.00002
NM_001098484.3(SLC4A4):c.*1509A>G rs1324268886 0.00002
NM_001098484.3(SLC4A4):c.*3702T>C rs1001169644 0.00002
NM_001098484.3(SLC4A4):c.1638T>C (p.Asn546=) rs143082796 0.00002
NM_001098484.3(SLC4A4):c.3100-3C>T rs886059598 0.00002
NM_001099287.2(NIPAL4):c.408G>A (p.Ala136=) rs746660063 0.00002
NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val) rs587777797 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met) rs749732549 0.00002
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001111.5(ADAR):c.1565A>C (p.Asn522Thr) rs766604638 0.00002
NM_001111.5(ADAR):c.1654G>A (p.Gly552Arg) rs771516546 0.00002
NM_001111.5(ADAR):c.1702A>G (p.Ile568Val) rs755915771 0.00002
NM_001111.5(ADAR):c.172G>A (p.Gly58Arg) rs1208088462 0.00002
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala) rs764506305 0.00002
NM_001111.5(ADAR):c.1785+5G>A rs17843866 0.00002
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu) rs754467673 0.00002
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala) rs894373560 0.00002
NM_001111.5(ADAR):c.2206C>T (p.Arg736Cys) rs770309575 0.00002
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala) rs776268194 0.00002
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu) rs373564780 0.00002
NM_001111.5(ADAR):c.3082G>A (p.Gly1028Arg) rs1236873184 0.00002
NM_001111.5(ADAR):c.341G>A (p.Arg114His) rs770167108 0.00002
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 0.00002
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725 0.00002
NM_001111.5(ADAR):c.566C>T (p.Ala189Val) rs182793061 0.00002
NM_001111.5(ADAR):c.59A>G (p.Tyr20Cys) rs754158375 0.00002
NM_001111.5(ADAR):c.755C>G (p.Ala252Gly) rs1314331716 0.00002
NM_001111.5(ADAR):c.762C>G (p.Asn254Lys) rs534876356 0.00002
NM_001122769.3(LCA5):c.706G>A (p.Glu236Lys) rs377719240 0.00002
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) rs148449230 0.00002
NM_001127453.2(GSDME):c.480G>C (p.Gln160His) rs546120306 0.00002
NM_001127649.3(PEX26):c.*1631G>T rs886057254 0.00002
NM_001127649.3(PEX26):c.*2651C>T rs963146393 0.00002
NM_001127649.3(PEX26):c.*2768C>T rs886057260 0.00002
NM_001127649.3(PEX26):c.*812C>T rs886057250 0.00002
NM_001127649.3(PEX26):c.120G>C (p.Glu40Asp) rs1010208134 0.00002
NM_001127649.3(PEX26):c.142C>T (p.His48Tyr) rs747831264 0.00002
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) rs777633990 0.00002
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) rs766581207 0.00002
NM_001127649.3(PEX26):c.230+3A>G rs757200331 0.00002
NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe) rs749146718 0.00002
NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr) rs768857476 0.00002
NM_001127649.3(PEX26):c.461C>T (p.Pro154Leu) rs998546145 0.00002
NM_001127649.3(PEX26):c.524C>T (p.Ser175Leu) rs748291426 0.00002
NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser) rs924635830 0.00002
NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu) rs1295117804 0.00002
NM_001127649.3(PEX26):c.547G>A (p.Gly183Ser) rs535045097 0.00002
NM_001127649.3(PEX26):c.653A>G (p.Lys218Arg) rs773676634 0.00002
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys) rs575612663 0.00002
NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys) rs764957881 0.00002
NM_001127649.3(PEX26):c.863G>A (p.Arg288His) rs370622812 0.00002
NM_001127649.3(PEX26):c.871C>T (p.Arg291Trp) rs576481410 0.00002
NM_001127649.3(PEX26):c.877G>A (p.Ala293Thr) rs1045236480 0.00002
NM_001127671.2(LIFR):c.*1051C>T rs189674684 0.00002
NM_001127671.2(LIFR):c.*1468T>G rs886060620 0.00002
NM_001127671.2(LIFR):c.*4020T>G rs968785250 0.00002
NM_001127671.2(LIFR):c.*4735C>A rs201856141 0.00002
NM_001127671.2(LIFR):c.*5667T>C rs886060607 0.00002
NM_001127671.2(LIFR):c.*6041_*6042insTTA rs542021288 0.00002
NM_001127671.2(LIFR):c.*648C>G rs886060624 0.00002
NM_001127671.2(LIFR):c.*966T>G rs886060623 0.00002
NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu) rs763060076 0.00002
NM_001127671.2(LIFR):c.16G>A (p.Val6Ile) rs373771721 0.00002
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323 0.00002
NM_001127671.2(LIFR):c.2692T>C (p.Leu898=) rs890810298 0.00002
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.3279C>T (p.Asn1093=) rs754371834 0.00002
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly) rs368025611 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1578G>C (p.Leu526Phe) rs376737714 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.1883G>A (p.Arg628Gln) rs768137941 0.00002
NM_001128178.3(NPHP1):c.1897A>G (p.Thr633Ala) rs764769662 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.385_387del (p.Ser129del) rs753643526 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.475G>A (p.Ala159Thr) rs372855293 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645 0.00002
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly) rs763604611 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu) rs1268717670 0.00002
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) rs561875696 0.00002
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) rs755829878 0.00002
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile) rs767805308 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) rs369209261 0.00002
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His) rs759015457 0.00002
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn) rs766900434 0.00002
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) rs765601966 0.00002
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) rs747089235 0.00002
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) rs762400168 0.00002
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) rs770593405 0.00002
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) rs754763074 0.00002
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val) rs766204227 0.00002
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) rs749610930 0.00002
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr) rs556134001 0.00002
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) rs761916273 0.00002
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) rs772742658 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=) rs555086420 0.00002
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) rs774011358 0.00002
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=) rs758538165 0.00002
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) rs571364996 0.00002
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln) rs748528655 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) rs746919714 0.00002
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) rs1024524968 0.00002
NM_001130987.2(DYSF):c.6173+4A>C rs749127704 0.00002
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) rs778611782 0.00002
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) rs528386282 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001134793.2(HYLS1):c.132A>G (p.Gln44=) rs773632619 0.00002
NM_001134793.2(HYLS1):c.725G>A (p.Arg242Gln) rs374261603 0.00002
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met) rs766621071 0.00002
NM_001139.3(ALOX12B):c.1592C>T (p.Pro531Leu) rs769562383 0.00002
NM_001139.3(ALOX12B):c.2082G>T (p.Leu694=) rs748377475 0.00002
NM_001139.3(ALOX12B):c.434+11G>T rs780190851 0.00002
NM_001139.3(ALOX12B):c.561C>T (p.Leu187=) rs201081065 0.00002
NM_001143985.1(BANF1):c.-105G>A rs1338388711 0.00002
NM_001143992.2(WRAP53):c.643-4A>G rs770005848 0.00002
NM_001143992.2(WRAP53):c.956-14C>T rs1484627654 0.00002
NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn) rs571071269 0.00002
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) rs773353115 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001145809.2(MYH14):c.4585C>T (p.Arg1529Cys) rs758821769 0.00002
NM_001145809.2(MYH14):c.4610G>A (p.Arg1537Gln) rs752388019 0.00002
NM_001145809.2(MYH14):c.4773C>T (p.Ala1591=) rs746906367 0.00002
NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala) rs774773452 0.00002
NM_001145809.2(MYH14):c.5133G>C (p.Gln1711His) rs202119742 0.00002
NM_001145809.2(MYH14):c.5284C>T (p.Arg1762Trp) rs746211693 0.00002
NM_001145809.2(MYH14):c.5987G>A (p.Arg1996His) rs369111539 0.00002
NM_001145809.2(MYH14):c.6065G>C (p.Gly2022Ala) rs1337213084 0.00002
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg) rs1192775388 0.00002
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter) rs752899664 0.00002
NM_001161403.3(LIMS2):c.12-6783G>A rs975497154 0.00002
NM_001161403.3(LIMS2):c.259G>A (p.Val87Ile) rs756099594 0.00002
NM_001161403.3(LIMS2):c.371G>A (p.Arg124Gln) rs767752155 0.00002
NM_001161403.3(LIMS2):c.425G>A (p.Arg142Gln) rs768454144 0.00002
NM_001161403.3(LIMS2):c.516G>T (p.Glu172Asp) rs1377141952 0.00002
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys) rs375142763 0.00002
NM_001161417.2(GPR17):c.988G>A (p.Glu330Lys) rs562945179 0.00002
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) rs746252411 0.00002
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) rs886540540 0.00002
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys) rs72653770 0.00002
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr) rs776463091 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr) rs957828732 0.00002
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg) rs72657695 0.00002
NM_001171.6(ABCC6):c.3506+15G>A rs72664302 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys) rs72657701 0.00002
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) rs141731889 0.00002
NM_001171.6(ABCC6):c.3882+5G>A rs774245200 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) rs775319351 0.00002
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001184.4(ATR):c.*102C>T rs532662296 0.00002
NM_001184.4(ATR):c.1006C>T (p.Arg336Trp) rs886058056 0.00002
NM_001184.4(ATR):c.1223T>G (p.Ile408Ser) rs370058763 0.00002
NM_001184.4(ATR):c.1318C>T (p.Pro440Ser) rs535140939 0.00002
NM_001184.4(ATR):c.2158G>A (p.Gly720Ser) rs143633875 0.00002
NM_001184.4(ATR):c.2638G>A (p.Ala880Thr) rs367864862 0.00002
NM_001184.4(ATR):c.4348G>A (p.Val1450Ile) rs755841740 0.00002
NM_001184.4(ATR):c.4376A>G (p.Asn1459Ser) rs144591613 0.00002
NM_001184.4(ATR):c.6197G>A (p.Arg2066Gln) rs886058052 0.00002
NM_001184.4(ATR):c.6335G>A (p.Arg2112His) rs535888898 0.00002
NM_001184.4(ATR):c.6800T>C (p.Ile2267Thr) rs775198036 0.00002
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338 0.00002
NM_001184.4(ATR):c.7220G>A (p.Arg2407His) rs778835776 0.00002
NM_001184.4(ATR):c.967G>C (p.Glu323Gln) rs771042068 0.00002
NM_001194998.2(CEP152):c.1185C>T (p.Cys395=) rs377258492 0.00002
NM_001194998.2(CEP152):c.438T>A (p.Leu146=) rs369129204 0.00002
NM_001195305.3(BBIP1):c.37+3A>T rs1247299009 0.00002
NM_001195794.1(CLRN1):c.-274A>C rs886058092 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) rs375571181 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) rs1251319519 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001254.4(CDC6):c.1581C>G (p.Thr527=) rs754533557 0.00002
NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met) rs200002841 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val) rs758738833 0.00002
NM_001267550.2(TTN):c.*919G>C rs752604042 0.00002
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met) rs886055299 0.00002
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys) rs558954116 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.100449A>C (p.Glu33483Asp) rs762690616 0.00002
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala) rs878854282 0.00002
NM_001267550.2(TTN):c.100876G>A (p.Val33626Met) rs1222398324 0.00002
NM_001267550.2(TTN):c.100972G>A (p.Gly33658Arg) rs780484535 0.00002
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu) rs368894429 0.00002
NM_001267550.2(TTN):c.101237G>A (p.Arg33746His) rs372584865 0.00002
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln) rs774790424 0.00002
NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu) rs536357517 0.00002
NM_001267550.2(TTN):c.101345C>T (p.Thr33782Ile) rs771566432 0.00002
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val) rs565546848 0.00002
NM_001267550.2(TTN):c.101599C>G (p.Leu33867Val) rs76194811 0.00002
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=) rs542799064 0.00002
NM_001267550.2(TTN):c.101749G>A (p.Val33917Ile) rs768379988 0.00002
NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser) rs761821275 0.00002
NM_001267550.2(TTN):c.101941T>C (p.Tyr33981His) rs781686886 0.00002
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg) rs1296387134 0.00002
NM_001267550.2(TTN):c.102155G>A (p.Arg34052Gln) rs369245991 0.00002
NM_001267550.2(TTN):c.102181C>T (p.Arg34061Cys) rs879220772 0.00002
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu) rs1467698015 0.00002
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro) rs1437743604 0.00002
NM_001267550.2(TTN):c.102308A>T (p.Asn34103Ile) rs557630306 0.00002
NM_001267550.2(TTN):c.102433G>A (p.Ala34145Thr) rs542891030 0.00002
NM_001267550.2(TTN):c.102682G>C (p.Gly34228Arg) rs555664963 0.00002
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.103471G>A (p.Glu34491Lys) rs556218739 0.00002
NM_001267550.2(TTN):c.103484T>C (p.Leu34495Pro) rs373479287 0.00002
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00002
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His) rs561869617 0.00002
NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp) rs962181882 0.00002
NM_001267550.2(TTN):c.104281C>T (p.Arg34761Trp) rs879071113 0.00002
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly) rs766674127 0.00002
NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu) rs754384143 0.00002
NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp) rs546085542 0.00002
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His) rs368063908 0.00002
NM_001267550.2(TTN):c.104654G>A (p.Arg34885Gln) rs368870767 0.00002
NM_001267550.2(TTN):c.104822C>A (p.Ala34941Asp) rs1445357252 0.00002
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys) rs727504918 0.00002
NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly) rs765030518 0.00002
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe) rs772718460 0.00002
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys) rs3813249 0.00002
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu) rs747940468 0.00002
NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys) rs779952686 0.00002
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln) rs56365812 0.00002
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00002
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met) rs1434315858 0.00002
NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg) rs546343124 0.00002
NM_001267550.2(TTN):c.106286C>A (p.Thr35429Lys) rs1241466221 0.00002
NM_001267550.2(TTN):c.106293T>C (p.Val35431=) rs749108651 0.00002
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu) rs727504462 0.00002
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu) rs753984036 0.00002
NM_001267550.2(TTN):c.107104C>G (p.Pro35702Ala) rs551126367 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His) rs770904787 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.107773A>G (p.Thr35925Ala) rs781497669 0.00002
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe) rs950902715 0.00002
NM_001267550.2(TTN):c.10825G>A (p.Glu3609Lys) rs1016683077 0.00002
NM_001267550.2(TTN):c.10840G>T (p.Glu3614Ter) rs540059730 0.00002
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser) rs765523683 0.00002
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr) rs727505091 0.00002
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys) rs397517830 0.00002
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys) rs528766978 0.00002
NM_001267550.2(TTN):c.13320G>A (p.Met4440Ile) rs768996215 0.00002
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala) rs758920941 0.00002
NM_001267550.2(TTN):c.14296G>A (p.Asp4766Asn) rs981499527 0.00002
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val) rs763092484 0.00002
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly) rs369989679 0.00002
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005 0.00002
NM_001267550.2(TTN):c.15125C>T (p.Thr5042Met) rs1060500462 0.00002
NM_001267550.2(TTN):c.15775+15A>C rs776801864 0.00002
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp) rs371044267 0.00002
NM_001267550.2(TTN):c.16028C>T (p.Ser5343Phe) rs369132752 0.00002
NM_001267550.2(TTN):c.16136A>C (p.Lys5379Thr) rs752346935 0.00002
NM_001267550.2(TTN):c.16370G>T (p.Gly5457Val) rs879144126 0.00002
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) rs377023302 0.00002
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val) rs768364912 0.00002
NM_001267550.2(TTN):c.1694C>T (p.Ser565Phe) rs762175397 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser) rs375003845 0.00002
NM_001267550.2(TTN):c.18427G>A (p.Gly6143Arg) rs757453585 0.00002
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353 0.00002
NM_001267550.2(TTN):c.18589+5G>A rs763752372 0.00002
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His) rs886246785 0.00002
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser) rs180694107 0.00002
NM_001267550.2(TTN):c.205G>A (p.Ala69Thr) rs1370693255 0.00002
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu) rs774362265 0.00002
NM_001267550.2(TTN):c.21116-1G>A rs771575556 0.00002
NM_001267550.2(TTN):c.21612T>G (p.Ser7204Arg) rs780624577 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys) rs774950387 0.00002
NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val) rs1191020503 0.00002
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu) rs560272834 0.00002
NM_001267550.2(TTN):c.22689C>G (p.Ile7563Met) rs1060500529 0.00002
NM_001267550.2(TTN):c.22931G>A (p.Arg7644Gln) rs766675017 0.00002
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp) rs184123332 0.00002
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr) rs979110143 0.00002
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=) rs754815317 0.00002
NM_001267550.2(TTN):c.23770A>C (p.Lys7924Gln) rs770650362 0.00002
NM_001267550.2(TTN):c.24039G>A (p.Pro8013=) rs768390615 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.24115G>A (p.Val8039Ile) rs759655046 0.00002
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile) rs369521909 0.00002
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn) rs397517511 0.00002
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) rs200572298 0.00002
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu) rs761929830 0.00002
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr) rs727503646 0.00002
NM_001267550.2(TTN):c.26579G>A (p.Ser8860Asn) rs1240256366 0.00002
NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn) rs759686739 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27426G>A (p.Ser9142=) rs368081453 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.27724G>T (p.Asp9242Tyr) rs746470885 0.00002
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe) rs748483786 0.00002
NM_001267550.2(TTN):c.28175-10C>T rs748478445 0.00002
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys) rs778573156 0.00002
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val) rs770782767 0.00002
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile) rs537805395 0.00002
NM_001267550.2(TTN):c.28754-11T>C rs146738622 0.00002
NM_001267550.2(TTN):c.29066C>G (p.Thr9689Ser) rs777878480 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr) rs781737736 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001267550.2(TTN):c.2996G>A (p.Arg999His) rs371757623 0.00002
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His) rs759347532 0.00002
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr) rs1219872673 0.00002
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro) rs762662455 0.00002
NM_001267550.2(TTN):c.32542C>T (p.Pro10848Ser) rs368286625 0.00002
NM_001267550.2(TTN):c.32826del (p.Val10943fs) rs1440823660 0.00002
NM_001267550.2(TTN):c.33052C>T (p.Arg11018Trp) rs372118864 0.00002
NM_001267550.2(TTN):c.33126C>T (p.Val11042=) rs72650036 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001267550.2(TTN):c.3380+12G>T rs775071824 0.00002
NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys) rs763380355 0.00002
NM_001267550.2(TTN):c.343G>A (p.Val115Met) rs564777385 0.00002
NM_001267550.2(TTN):c.34537+3A>G rs1427570685 0.00002
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr) rs368157806 0.00002
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val) rs375391365 0.00002
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr) rs1393138345 0.00002
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His) rs756874306 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_001267550.2(TTN):c.35797G>C (p.Glu11933Gln) rs769110483 0.00002
NM_001267550.2(TTN):c.36043+4C>T rs370368656 0.00002
NM_001267550.2(TTN):c.36043+5G>A rs561444783 0.00002
NM_001267550.2(TTN):c.36142G>C (p.Val12048Leu) rs768872042 0.00002
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu) rs371317962 0.00002
NM_001267550.2(TTN):c.36499C>T (p.Pro12167Ser) rs780323492 0.00002
NM_001267550.2(TTN):c.36520C>A (p.Pro12174Thr) rs762482452 0.00002
NM_001267550.2(TTN):c.37543+1G>A rs1374931889 0.00002
NM_001267550.2(TTN):c.38275C>G (p.Pro12759Ala) rs1162101042 0.00002
NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile) rs767090806 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.39127G>A (p.Val13043Met) rs560962534 0.00002
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys) rs761974767 0.00002
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser) rs202240398 0.00002
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe) rs759268958 0.00002
NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter) rs758166967 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr) rs373988162 0.00002
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys) rs759050071 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00002
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val) rs754227553 0.00002
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys) rs879232192 0.00002
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys) rs377015571 0.00002
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met) rs778576436 0.00002
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr) rs772053966 0.00002
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys) rs140795503 0.00002
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr) rs377564388 0.00002
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys) rs77496539 0.00002
NM_001267550.2(TTN):c.46631G>A (p.Arg15544His) rs772760901 0.00002
NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val) rs780634456 0.00002
NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys) rs765032242 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile) rs367769671 0.00002
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile) rs770839243 0.00002
NM_001267550.2(TTN):c.50084G>A (p.Arg16695Gln) rs794729451 0.00002
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp) rs369623681 0.00002
NM_001267550.2(TTN):c.50399A>C (p.Lys16800Thr) rs959185764 0.00002
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro) rs764983586 0.00002
NM_001267550.2(TTN):c.50648C>A (p.Pro16883His) rs758756600 0.00002
NM_001267550.2(TTN):c.51337C>T (p.Pro17113Ser) rs768641489 0.00002
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln) rs775700218 0.00002
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr) rs775637498 0.00002
NM_001267550.2(TTN):c.52373T>C (p.Val17458Ala) rs760430370 0.00002
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys) rs375966756 0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.53769G>A (p.Leu17923=) rs1439566303 0.00002
NM_001267550.2(TTN):c.53881+3G>A rs1160974431 0.00002
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro) rs878999356 0.00002
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His) rs760383112 0.00002
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser) rs777505893 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.55058A>G (p.Asn18353Ser) rs747601378 0.00002
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro) rs1044328956 0.00002
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu) rs531760043 0.00002
NM_001267550.2(TTN):c.56051G>A (p.Cys18684Tyr) rs1025426023 0.00002
NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala) rs964263107 0.00002
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr) rs397517623 0.00002
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=) rs376310289 0.00002
NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu) rs900082928 0.00002
NM_001267550.2(TTN):c.58876G>A (p.Ala19626Thr) rs371278320 0.00002
NM_001267550.2(TTN):c.58882G>A (p.Val19628Ile) rs772550095 0.00002
NM_001267550.2(TTN):c.5889A>C (p.Lys1963Asn) rs897521028 0.00002
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu) rs769129424 0.00002
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=) rs587780491 0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys) rs751863629 0.00002
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn) rs148353350 0.00002
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val) rs878993043 0.00002
NM_001267550.2(TTN):c.60242A>G (p.Asp20081Gly) rs369680191 0.00002
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr) rs752768925 0.00002
NM_001267550.2(TTN):c.60815C>T (p.Pro20272Leu) rs760277470 0.00002
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met) rs761374262 0.00002
NM_001267550.2(TTN):c.62314G>A (p.Asp20772Asn) rs878925775 0.00002
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe) rs773806020 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu) rs767322897 0.00002
NM_001267550.2(TTN):c.63521T>C (p.Ile21174Thr) rs1319446307 0.00002
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile) rs1031526299 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.6414A>G (p.Ile2138Met) rs368391123 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.64475G>A (p.Gly21492Glu) rs879135883 0.00002
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) rs72646860 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His) rs751046367 0.00002
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val) rs1338410239 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr) rs752176305 0.00002
NM_001267550.2(TTN):c.65715A>C (p.Lys21905Asn) rs574615636 0.00002
NM_001267550.2(TTN):c.66544T>G (p.Tyr22182Asp) rs878854327 0.00002
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) rs371324060 0.00002
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr) rs768380109 0.00002
NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys) rs772361876 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp) rs776797528 0.00002
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val) rs72647881 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.68450G>A (p.Arg22817Gln) rs372496072 0.00002
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met) rs764263517 0.00002
NM_001267550.2(TTN):c.68848C>A (p.Pro22950Thr) rs770007899 0.00002
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg) rs145585333 0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr) rs577966527 0.00002
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys) rs760487688 0.00002
NM_001267550.2(TTN):c.73759T>C (p.Cys24587Arg) rs776113871 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile) rs759432194 0.00002
NM_001267550.2(TTN):c.75011G>A (p.Arg25004His) rs909041164 0.00002
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307 0.00002
NM_001267550.2(TTN):c.75554A>C (p.Lys25185Thr) rs371042435 0.00002
NM_001267550.2(TTN):c.75620C>G (p.Pro25207Arg) rs72646900 0.00002
NM_001267550.2(TTN):c.75746G>A (p.Arg25249His) rs773286477 0.00002
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly) rs767430531 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile) rs1016165797 0.00002
NM_001267550.2(TTN):c.76627A>G (p.Lys25543Glu) rs372016541 0.00002
NM_001267550.2(TTN):c.77902G>A (p.Glu25968Lys) rs756933390 0.00002
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys) rs370515843 0.00002
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu) rs912454417 0.00002
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) rs371325635 0.00002
NM_001267550.2(TTN):c.79105G>A (p.Val26369Ile) rs778729064 0.00002
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835 0.00002
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr) rs749600987 0.00002
NM_001267550.2(TTN):c.79744A>C (p.Lys26582Gln) rs775918922 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys) rs748215561 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.82022G>A (p.Arg27341Gln) rs555414240 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln) rs765230578 0.00002
NM_001267550.2(TTN):c.82814A>G (p.Tyr27605Cys) rs753352392 0.00002
NM_001267550.2(TTN):c.83011G>C (p.Glu27671Gln) rs949881130 0.00002
NM_001267550.2(TTN):c.83324T>C (p.Ile27775Thr) rs769577217 0.00002
NM_001267550.2(TTN):c.83519T>C (p.Val27840Ala) rs752446232 0.00002
NM_001267550.2(TTN):c.83779A>C (p.Thr27927Pro) rs1164046049 0.00002
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) rs756176112 0.00002
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val) rs886042586 0.00002
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp) rs757653038 0.00002
NM_001267550.2(TTN):c.85420C>T (p.Arg28474Cys) rs757771061 0.00002
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala) rs369907507 0.00002
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val) rs554841820 0.00002
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp) rs754025981 0.00002
NM_001267550.2(TTN):c.86676G>T (p.Trp28892Cys) rs779407441 0.00002
NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys) rs757848764 0.00002
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240 0.00002
NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr) rs923029692 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp) rs781330566 0.00002
NM_001267550.2(TTN):c.88826G>A (p.Arg29609Gln) rs758876816 0.00002
NM_001267550.2(TTN):c.88946C>T (p.Ser29649Leu) rs764695663 0.00002
NM_001267550.2(TTN):c.88955T>C (p.Val29652Ala) rs748609330 0.00002
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser) rs773875566 0.00002
NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val) rs764394936 0.00002
NM_001267550.2(TTN):c.89410G>A (p.Val29804Ile) rs747784568 0.00002
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro) rs748326514 0.00002
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=) rs757524187 0.00002
NM_001267550.2(TTN):c.89965A>G (p.Ser29989Gly) rs1225946550 0.00002
NM_001267550.2(TTN):c.90412G>A (p.Gly30138Arg) rs1225356759 0.00002
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile) rs1060500591 0.00002
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp) rs773600127 0.00002
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00002
NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro) rs369043548 0.00002
NM_001267550.2(TTN):c.91736T>C (p.Leu30579Pro) rs765022890 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=) rs771773845 0.00002
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp) rs727505280 0.00002
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=) rs764189986 0.00002
NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn) rs886042408 0.00002
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) rs201377736 0.00002
NM_001267550.2(TTN):c.93737A>G (p.Lys31246Arg) rs775611779 0.00002
NM_001267550.2(TTN):c.94711G>A (p.Val31571Met) rs140081451 0.00002
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr) rs141357723 0.00002
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys) rs397517760 0.00002
NM_001267550.2(TTN):c.95330A>C (p.Glu31777Ala) rs955172279 0.00002
NM_001267550.2(TTN):c.95344G>A (p.Val31782Met) rs377076423 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser) rs754416007 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.95953G>A (p.Val31985Ile) rs373484878 0.00002
NM_001267550.2(TTN):c.96030A>G (p.Glu32010=) rs144101806 0.00002
NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn) rs1385851793 0.00002
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys) rs374598326 0.00002
NM_001267550.2(TTN):c.97292C>T (p.Pro32431Leu) rs1060500426 0.00002
NM_001267550.2(TTN):c.97330C>T (p.Arg32444Cys) rs776164829 0.00002
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met) rs760676361 0.00002
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser) rs374521620 0.00002
NM_001267550.2(TTN):c.98464G>A (p.Asp32822Asn) rs921446344 0.00002
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met) rs758948672 0.00002
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys) rs772577036 0.00002
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter) rs782783744 0.00002
NM_001278293.3(ARL6):c.17G>C (p.Arg6Thr) rs751957701 0.00002
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly) rs587777805 0.00002
NM_001278293.3(ARL6):c.458A>G (p.Lys153Arg) rs771963434 0.00002
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys) rs866955014 0.00002
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657 0.00002
NM_001283009.2(RTEL1):c.1603G>A (p.Glu535Lys) rs1367858373 0.00002
NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys) rs1046172136 0.00002
NM_001283009.2(RTEL1):c.1800+3C>T rs764757029 0.00002
NM_001283009.2(RTEL1):c.1948C>T (p.Pro650Ser) rs768489017 0.00002
NM_001283009.2(RTEL1):c.1951C>T (p.Arg651Cys) rs765231471 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.2413+5G>A rs750836127 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val) rs996529824 0.00002
NM_001283009.2(RTEL1):c.2530C>T (p.Arg844Trp) rs368297230 0.00002
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val) rs376204071 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.2753C>T (p.Ala918Val) rs1234595238 0.00002
NM_001283009.2(RTEL1):c.3002C>T (p.Ala1001Val) rs150072861 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys) rs762640318 0.00002
NM_001283009.2(RTEL1):c.350C>T (p.Ser117Leu) rs372278974 0.00002
NM_001283009.2(RTEL1):c.3701C>T (p.Pro1234Leu) rs537878959 0.00002
NM_001283009.2(RTEL1):c.3712C>T (p.Leu1238Phe) rs765763485 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn) rs773592856 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu) rs748022323 0.00002
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr) rs779282812 0.00002
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn) rs758615955 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met) rs763524517 0.00002
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) rs780301208 0.00002
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) rs749710241 0.00002
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) rs1040832003 0.00002
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) rs758553529 0.00002
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) rs372160214 0.00002
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) rs770532816 0.00002
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) rs745459956 0.00002
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) rs762324359 0.00002
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) rs752597351 0.00002
NM_001329943.3(KIAA0586):c.2634+4A>G rs1373493143 0.00002
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) rs780403471 0.00002
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) rs757075176 0.00002
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) rs778611816 0.00002
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) rs1287641719 0.00002
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) rs368583200 0.00002
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) rs780444812 0.00002
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) rs747213685 0.00002
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) rs773967297 0.00002
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) rs752970542 0.00002
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) rs554032625 0.00002
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) rs776582851 0.00002
NM_001329943.3(KIAA0586):c.411-1420A>G rs1037899594 0.00002
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) rs890327400 0.00002
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) rs746312329 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) rs779264142 0.00002
NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala) rs751937990 0.00002
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile) rs751774861 0.00002
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln) rs765532002 0.00002
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg) rs1383386030 0.00002
NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys) rs199544306 0.00002
NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg) rs764700965 0.00002
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser) rs749417845 0.00002
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln) rs779049461 0.00002
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val) rs765623850 0.00002
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val) rs766669738 0.00002
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile) rs761240813 0.00002
NM_001351132.2(PEX5):c.299G>A (p.Arg100His) rs757108771 0.00002
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp) rs766587819 0.00002
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys) rs1259114034 0.00002
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu) rs145613325 0.00002
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala) rs140292053 0.00002
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu) rs752922748 0.00002
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro) rs778767381 0.00002
NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg) rs759345862 0.00002
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp) rs767306549 0.00002
NM_001351132.2(PEX5):c.909T>C (p.Ala303=) rs376649488 0.00002
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu) rs1159586988 0.00002
NM_001366722.1(GRIP1):c.*1328G>A rs886049790 0.00002
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_001367624.2(ZNF469):c.*499A>G rs537339757 0.00002
NM_001367624.2(ZNF469):c.*792A>G rs886052424 0.00002
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=) rs768501538 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=) rs766852564 0.00002
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn) rs886881362 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=) rs757816736 0.00002
NM_001374623.1(PNPLA1):c.438+10C>T rs886061373 0.00002
NM_001374623.1(PNPLA1):c.955G>A (p.Asp319Asn) rs182227800 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_001378454.1(ALMS1):c.*111A>G rs200498913 0.00002
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser) rs770904502 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10384+3A>G rs752727300 0.00002
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala) rs750128969 0.00002
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843 0.00002
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00002
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val) rs377523400 0.00002
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg) rs201959964 0.00002
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp) rs543346172 0.00002
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His) rs751862434 0.00002
NM_001378454.1(ALMS1):c.12226C>T (p.Arg4076Trp) rs368113488 0.00002
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln) rs200814417 0.00002
NM_001378454.1(ALMS1):c.12274C>T (p.Arg4092Cys) rs774888526 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00002
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.1252A>G (p.Lys418Glu) rs760066942 0.00002
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg) rs1212388844 0.00002
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala) rs201647675 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.1969C>G (p.Gln657Glu) rs1371488235 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479 0.00002
NM_001378454.1(ALMS1):c.2345A>G (p.His782Arg) rs549457439 0.00002
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861 0.00002
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu) rs376834704 0.00002
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385 0.00002
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys) rs369228801 0.00002
NM_001378454.1(ALMS1):c.2804C>T (p.Ser935Leu) rs1183510271 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_001378454.1(ALMS1):c.3318C>G (p.Phe1106Leu) rs1044966122 0.00002
NM_001378454.1(ALMS1):c.3403G>A (p.Gly1135Ser) rs1419651180 0.00002
NM_001378454.1(ALMS1):c.3431A>T (p.Tyr1144Phe) rs749513495 0.00002
NM_001378454.1(ALMS1):c.343C>T (p.His115Tyr) rs759255714 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile) rs778965893 0.00002
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His) rs766931841 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr) rs767106643 0.00002
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 0.00002
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089 0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698 0.00002
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala) rs777227174 0.00002
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser) rs756201461 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 0.00002
NM_001378454.1(ALMS1):c.7037G>A (p.Arg2346Lys) rs765006341 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu) rs994637726 0.00002
NM_001378454.1(ALMS1):c.7328T>G (p.Leu2443Arg) rs766944640 0.00002
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val) rs1164499906 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr) rs548882067 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala) rs765519997 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys) rs746432199 0.00002
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg) rs1259827695 0.00002
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile) rs1447116062 0.00002
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His) rs755542969 0.00002
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys) rs747291259 0.00002
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985 0.00002
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys) rs757657988 0.00002
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly) rs751940353 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.8926G>A (p.Val2976Ile) rs1298787753 0.00002
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser) rs757198941 0.00002
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr) rs374259576 0.00002
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met) rs773897748 0.00002
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr) rs547914710 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His) rs770579229 0.00002
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser) rs769100528 0.00002
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile) rs551840069 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg) rs777406837 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.5050G>A (p.Gly1684Arg) rs778223464 0.00002
NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu) rs543650388 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp) rs541135799 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324 0.00002
NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln) rs748886997 0.00002
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser) rs745599580 0.00002
NM_001379180.1(ESRRB):c.*1502A>T rs752675221 0.00002
NM_001379180.1(ESRRB):c.*2867C>T rs554904120 0.00002
NM_001379286.1(ZNF423):c.1060C>T (p.Arg354Trp) rs200831034 0.00002
NM_001379286.1(ZNF423):c.142C>T (p.Arg48Cys) rs765667466 0.00002
NM_001379286.1(ZNF423):c.1538G>A (p.Gly513Asp) rs144075265 0.00002
NM_001379286.1(ZNF423):c.1597G>C (p.Gly533Arg) rs373356097 0.00002
NM_001379286.1(ZNF423):c.1721C>T (p.Pro574Leu) rs369783460 0.00002
NM_001379286.1(ZNF423):c.1891A>C (p.Ser631Arg) rs754607542 0.00002
NM_001379286.1(ZNF423):c.2354C>T (p.Pro785Leu) rs781224575 0.00002
NM_001379286.1(ZNF423):c.2605A>G (p.Met869Val) rs762086382 0.00002
NM_001379286.1(ZNF423):c.2782C>T (p.Arg928Cys) rs201335350 0.00002
NM_001379286.1(ZNF423):c.280C>T (p.Arg94Trp) rs768749090 0.00002
NM_001379286.1(ZNF423):c.2846C>T (p.Ser949Leu) rs778403528 0.00002
NM_001379286.1(ZNF423):c.296C>T (p.Pro99Leu) rs553868296 0.00002
NM_001379286.1(ZNF423):c.3085C>T (p.Arg1029Cys) rs773541714 0.00002
NM_001379286.1(ZNF423):c.3355G>A (p.Glu1119Lys) rs963887255 0.00002
NM_001379286.1(ZNF423):c.3460C>T (p.Leu1154Phe) rs200585157 0.00002
NM_001379286.1(ZNF423):c.3775G>A (p.Val1259Met) rs552839268 0.00002
NM_001379286.1(ZNF423):c.3850-3C>T rs775616540 0.00002
NM_001379286.1(ZNF423):c.884C>T (p.Pro295Leu) rs775792952 0.00002
NM_001379286.1(ZNF423):c.988A>G (p.Lys330Glu) rs778618400 0.00002
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00002
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) rs373749366 0.00002
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) rs781313362 0.00002
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) rs746165769 0.00002
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) rs369228037 0.00002
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) rs751572039 0.00002
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) rs376724794 0.00002
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) rs775629891 0.00002
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) rs755275549 0.00002
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) rs200930857 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) rs201261521 0.00002
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) rs527426163 0.00002
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) rs1386679081 0.00002
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) rs765332591 0.00002
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) rs749026327 0.00002
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) rs114953032 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) rs377496424 0.00002
NM_001384140.1(PCDH15):c.-126G>A rs551107079 0.00002
NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser) rs199537944 0.00002
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala) rs747795209 0.00002
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=) rs754253198 0.00002
NM_001384140.1(PCDH15):c.2564G>A (p.Arg855Gln) rs763530050 0.00002
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val) rs747028333 0.00002
NM_001384140.1(PCDH15):c.2731A>G (p.Thr911Ala) rs887302573 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774 0.00002
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His) rs548728030 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 0.00002
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser) rs143149062 0.00002
NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys) rs904260491 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln) rs371850442 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser) rs374283912 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr) rs775673790 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu) rs755819004 0.00002
NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser) rs556312555 0.00002
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val) rs1131691786 0.00002
NM_001384474.1(LOXHD1):c.2237T>C (p.Ile746Thr) rs1230156672 0.00002
NM_001384474.1(LOXHD1):c.245+5G>A rs374277176 0.00002
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.3015C>T (p.Asn1005=) rs534756824 0.00002
NM_001384474.1(LOXHD1):c.3170G>A (p.Arg1057Gln) rs1275821062 0.00002
NM_001384474.1(LOXHD1):c.329T>C (p.Ile110Thr) rs556403714 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00002
NM_001384474.1(LOXHD1):c.409C>T (p.Arg137Cys) rs369244277 0.00002
NM_001384474.1(LOXHD1):c.4481G>A (p.Arg1494Gln) rs949457669 0.00002
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr) rs922663658 0.00002
NM_001384474.1(LOXHD1):c.611-8G>A rs748870133 0.00002
NM_001384474.1(LOXHD1):c.6170G>C (p.Arg2057Pro) rs939845241 0.00002
NM_001384474.1(LOXHD1):c.6321C>T (p.Thr2107=) rs1238383222 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu) rs950165733 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NM_001386140.1(MTTP):c.*38G>A rs561157874 0.00002
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) rs751715076 0.00002
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) rs1419028802 0.00002
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) rs146548751 0.00002
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) rs759706918 0.00002
NM_001393500.2(TOMT):c.*400C>A rs956514341 0.00002
NM_001393500.2(TOMT):c.*638C>T rs1217502070 0.00002
NM_001393500.2(TOMT):c.404C>T (p.Thr135Met) rs537610140 0.00002
NM_001692.4(ATP6V1B1):c.1228G>C (p.Gly410Arg) rs782554600 0.00002
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025 0.00002
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys) rs751272874 0.00002
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373 0.00002
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met) rs760726168 0.00002
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter) rs201011416 0.00002
NM_002109.6(HARS1):c.1399G>A (p.Gly467Ser) rs372237777 0.00002
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala) rs376596538 0.00002
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter) rs373709175 0.00002
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621 0.00002
NM_002109.6(HARS1):c.383G>A (p.Arg128His) rs748062451 0.00002
NM_002109.6(HARS1):c.472C>T (p.Arg158Trp) rs939538495 0.00002
NM_002109.6(HARS1):c.585G>C (p.Met195Ile) rs777238077 0.00002
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn) rs759634200 0.00002
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe) rs910919096 0.00002
NM_002161.6(IARS1):c.419G>A (p.Arg140Gln) rs747654531 0.00002
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) rs1004816448 0.00002
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) rs373649545 0.00002
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 0.00002
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile) rs373828321 0.00002
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys) rs374185933 0.00002
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429 0.00002
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp) rs746014167 0.00002
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495 0.00002
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys) rs761885813 0.00002
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu) rs763014565 0.00002
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln) rs765230277 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser) rs757006949 0.00002
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932 0.00002
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser) rs774483778 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623 0.00002
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile) rs375694606 0.00002
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) rs374952782 0.00002
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met) rs745416724 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_002230.4(JUP):c.*316G>A rs910457325 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.148G>A (p.Gly50Arg) rs374008304 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.1850C>T (p.Ala617Val) rs782465804 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn) rs782647137 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.502C>G (p.Gln168Glu) rs1322804388 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.675G>A (p.Ser225=) rs782063643 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00002
NM_002230.4(JUP):c.833A>G (p.Asn278Ser) rs541560189 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_002241.5(KCNJ10):c.*2406T>C rs771363724 0.00002
NM_002241.5(KCNJ10):c.*2624G>A rs745675740 0.00002
NM_002241.5(KCNJ10):c.*680T>G rs886045411 0.00002
NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His) rs764034536 0.00002
NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg) rs770453248 0.00002
NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe) rs939420346 0.00002
NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu) rs374746230 0.00002
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr) rs903919410 0.00002
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln) rs151276385 0.00002
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg) rs749901949 0.00002
NM_002292.4(LAMB2):c.1222C>T (p.Arg408Cys) rs759728774 0.00002
NM_002292.4(LAMB2):c.1518+5G>A rs768311062 0.00002
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn) rs200694459 0.00002
NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln) rs866448113 0.00002
NM_002292.4(LAMB2):c.1738G>A (p.Asp580Asn) rs779353027 0.00002
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys) rs1405443471 0.00002
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys) rs766396792 0.00002
NM_002292.4(LAMB2):c.2061C>G (p.Ile687Met) rs912735454 0.00002
NM_002292.4(LAMB2):c.2179C>G (p.Leu727Val) rs760463111 0.00002
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr) rs763101025 0.00002
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln) rs201235061 0.00002
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val) rs753039246 0.00002
NM_002292.4(LAMB2):c.2869C>T (p.Arg957Trp) rs372148651 0.00002
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln) rs764846938 0.00002
NM_002292.4(LAMB2):c.2891G>A (p.Arg964Gln) rs774551290 0.00002
NM_002292.4(LAMB2):c.2944C>T (p.Arg982Trp) rs530751136 0.00002
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro) rs747604203 0.00002
NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His) rs373712709 0.00002
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) rs369406683 0.00002
NM_002292.4(LAMB2):c.3302G>A (p.Arg1101Gln) rs140199337 0.00002
NM_002292.4(LAMB2):c.3662C>T (p.Thr1221Met) rs770277410 0.00002
NM_002292.4(LAMB2):c.3837C>T (p.Leu1279=) rs775950352 0.00002
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_002292.4(LAMB2):c.4094G>A (p.Arg1365Gln) rs375964293 0.00002
NM_002292.4(LAMB2):c.4100G>C (p.Arg1367Pro) rs753524295 0.00002
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His) rs377526198 0.00002
NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser) rs1327659310 0.00002
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln) rs533452341 0.00002
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys) rs1277967384 0.00002
NM_002292.4(LAMB2):c.4690C>T (p.Arg1564Trp) rs780366815 0.00002
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln) rs752674803 0.00002
NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp) rs763067343 0.00002
NM_002292.4(LAMB2):c.583C>T (p.Arg195Trp) rs147986864 0.00002
NM_002292.4(LAMB2):c.991C>T (p.Leu331=) rs561241970 0.00002
NM_002310.6(LIFR):c.-28G>A rs886060632 0.00002
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met) rs746292760 0.00002
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg) rs558895370 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) rs532035027 0.00002
NM_002335.4(LRP5):c.2134G>A (p.Val712Met) rs765239493 0.00002
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys) rs775431782 0.00002
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys) rs760734426 0.00002
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser) rs776554205 0.00002
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys) rs768840999 0.00002
NM_002335.4(LRP5):c.3427+12G>A rs756103866 0.00002
NM_002335.4(LRP5):c.3637+4C>T rs746451473 0.00002
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His) rs143924910 0.00002
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val) rs949211640 0.00002
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) rs746686714 0.00002
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile) rs1300430679 0.00002
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile) rs758606794 0.00002
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) rs1239051004 0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) rs777447397 0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) rs767321681 0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) rs763568058 0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) rs754157293 0.00002
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) rs377115843 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys) rs750911335 0.00002
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) rs1276028189 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_002473.6(MYH9):c.4305C>T (p.Ser1435=) rs768359816 0.00002
NM_002473.6(MYH9):c.4348C>T (p.Leu1450=) rs764948348 0.00002
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_002473.6(MYH9):c.4728G>A (p.Arg1576=) rs756867174 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002485.5(NBN):c.*123T>A rs886063167 0.00002
NM_002485.5(NBN):c.*1267A>G rs1356012750 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala) rs201373377 0.00002
NM_002485.5(NBN):c.133C>G (p.His45Asp) rs773865323 0.00002
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu) rs767123014 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) rs587782330 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu) rs587780090 0.00002
NM_002485.5(NBN):c.1845+3A>G rs587780777 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) rs587781547 0.00002
NM_002485.5(NBN):c.193G>A (p.Val65Ile) rs778998026 0.00002
NM_002485.5(NBN):c.1961T>G (p.Leu654Arg) rs758728938 0.00002
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu) rs6413508 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2036A>G (p.Tyr679Cys) rs370295427 0.00002
NM_002485.5(NBN):c.2070+4G>A rs876660950 0.00002
NM_002485.5(NBN):c.2086G>A (p.Ala696Thr) rs749276965 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.24G>A (p.Ala8=) rs779543740 0.00002
NM_002485.5(NBN):c.251A>G (p.Gln84Arg) rs762702597 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_002485.5(NBN):c.301G>A (p.Val101Met) rs786202139 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.902G>A (p.Gly301Asp) rs749857140 0.00002
NM_002485.5(NBN):c.911C>T (p.Pro304Leu) rs536965870 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.949A>G (p.Met317Val) rs587782502 0.00002
NM_002617.4(PEX10):c.*905A>C rs1316891759 0.00002
NM_002617.4(PEX10):c.296A>G (p.His99Arg) rs764465144 0.00002
NM_002617.4(PEX10):c.364G>A (p.Asp122Asn) rs375855913 0.00002
NM_002617.4(PEX10):c.447G>A (p.Thr149=) rs759220912 0.00002
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys) rs772618705 0.00002
NM_002617.4(PEX10):c.484C>T (p.Arg162Trp) rs570706924 0.00002
NM_002617.4(PEX10):c.556G>A (p.Gly186Ser) rs147848221 0.00002
NM_002617.4(PEX10):c.596C>T (p.Thr199Met) rs373559391 0.00002
NM_002617.4(PEX10):c.766T>A (p.Ser256Thr) rs532149116 0.00002
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp) rs747171383 0.00002
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys) rs1208669638 0.00002
NM_002617.4(PEX10):c.857C>T (p.Thr286Met) rs774205482 0.00002
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser) rs556603981 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002618.4(PEX13):c.*1533G>C rs886056202 0.00002
NM_002618.4(PEX13):c.*1925C>T rs1050392536 0.00002
NM_002618.4(PEX13):c.*2422T>G rs958254103 0.00002
NM_002618.4(PEX13):c.*3050C>T rs1246216348 0.00002
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala) rs753444647 0.00002
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro) rs1171979724 0.00002
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr) rs1338444377 0.00002
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599 0.00002
NM_002618.4(PEX13):c.320G>A (p.Arg107His) rs766710343 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu) rs1249025009 0.00002
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile) rs985608709 0.00002
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln) rs377426614 0.00002
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys) rs376720470 0.00002
NM_002618.4(PEX13):c.932G>A (p.Arg311His) rs147344836 0.00002
NM_002635.4(SLC25A3):c.*316A>G rs958253516 0.00002
NM_002635.4(SLC25A3):c.312C>T (p.Asn104=) rs774087747 0.00002
NM_002635.4(SLC25A3):c.75T>C (p.Gly25=) rs972857493 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu) rs770000759 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_002855.5(NECTIN1):c.*1241T>A rs963747375 0.00002
NM_002855.5(NECTIN1):c.*2355C>T rs1456398872 0.00002
NM_002855.5(NECTIN1):c.*2882G>A rs1200712188 0.00002
NM_002855.5(NECTIN1):c.1422C>T (p.Ala474=) rs763407766 0.00002
NM_002857.3(PEX19):c.-17A>C rs748844578 0.00002
NM_002857.4(PEX19):c.*2383C>G rs369641116 0.00002
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu) rs375153087 0.00002
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly) rs181602818 0.00002
NM_002857.4(PEX19):c.272T>C (p.Met91Thr) rs747047470 0.00002
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys) rs771657561 0.00002
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu) rs765741144 0.00002
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu) rs753324166 0.00002
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser) rs760726802 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_002899.5(RBP1):c.387_400del (p.Lys131fs) rs587783020 0.00002
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003193.5(TBCE):c.1270+9G>A rs748495327 0.00002
NM_003193.5(TBCE):c.70C>T (p.Arg24Cys) rs750637765 0.00002
NM_003383.5(VLDLR):c.*192C>T rs763576733 0.00002
NM_003383.5(VLDLR):c.*21C>T rs776834603 0.00002
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.-154C>G rs985479340 0.00002
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) rs778029251 0.00002
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala) rs756589419 0.00002
NM_003384.3(VRK1):c.26C>T (p.Ala9Val) rs771269721 0.00002
NM_003384.3(VRK1):c.308G>A (p.Arg103His) rs779386449 0.00002
NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala) rs886054444 0.00002
NM_003619.4(PRSS12):c.*1573G>A rs931601172 0.00002
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile) rs781361976 0.00002
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910 0.00002
NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) rs779371056 0.00002
NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) rs199769531 0.00002
NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile) rs772380740 0.00002
NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp) rs756317669 0.00002
NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=) rs555469304 0.00002
NM_003839.4(TNFRSF11A):c.*423G>A rs980089410 0.00002
NM_003839.4(TNFRSF11A):c.*759C>G rs1048132784 0.00002
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) rs772827300 0.00002
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) rs200952751 0.00002
NM_003896.4(ST3GAL5):c.*323C>G rs886056390 0.00002
NM_003896.4(ST3GAL5):c.*455G>A rs886056388 0.00002
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=) rs149801673 0.00002
NM_003896.4(ST3GAL5):c.1093C>G (p.Leu365Val) rs775647232 0.00002
NM_003896.4(ST3GAL5):c.1246C>T (p.Arg416Cys) rs768727734 0.00002
NM_003896.4(ST3GAL5):c.616G>A (p.Gly206Arg) rs755430767 0.00002
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=) rs534535305 0.00002
NM_004004.6(GJB2):c.-22-1G>A rs551625098 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004086.3(COCH):c.-10A>G rs200113981 0.00002
NM_004086.3(COCH):c.293G>A (p.Arg98Gln) rs764704351 0.00002
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004153.4(ORC1):c.1707T>C (p.Asn569=) rs376619175 0.00002
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser) rs370667339 0.00002
NM_004230.4(S1PR2):c.985C>T (p.Arg329Cys) rs765378016 0.00002
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp) rs62261248 0.00002
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) rs779846682 0.00002
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) rs769229834 0.00002
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) rs544574838 0.00002
NM_004393.6(DAG1):c.1454G>A (p.Ser485Asn) rs764859263 0.00002
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile) rs527867946 0.00002
NM_004393.6(DAG1):c.1571A>G (p.Tyr524Cys) rs767905225 0.00002
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) rs200334256 0.00002
NM_004393.6(DAG1):c.193G>A (p.Val65Ile) rs757379579 0.00002
NM_004393.6(DAG1):c.2035C>T (p.Arg679Cys) rs778608269 0.00002
NM_004393.6(DAG1):c.2083G>A (p.Ala695Thr) rs764107385 0.00002
NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala) rs138386617 0.00002
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser) rs368597067 0.00002
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) rs141562264 0.00002
NM_004393.6(DAG1):c.2648T>C (p.Met883Thr) rs962242031 0.00002
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207 0.00002
NM_004393.6(DAG1):c.695A>G (p.Asn232Ser) rs779274447 0.00002
NM_004393.6(DAG1):c.712A>G (p.Met238Val) rs148238809 0.00002
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) rs745559790 0.00002
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser) rs147149991 0.00002
NM_004393.6(DAG1):c.93G>T (p.Trp31Cys) rs146339759 0.00002
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_004525.3(LRP2):c.10790A>G (p.Asn3597Ser) rs777356886 0.00002
NM_004525.3(LRP2):c.10948C>A (p.Gln3650Lys) rs766032786 0.00002
NM_004525.3(LRP2):c.11207G>A (p.Arg3736His) rs752156045 0.00002
NM_004525.3(LRP2):c.11416A>G (p.Thr3806Ala) rs373490312 0.00002
NM_004525.3(LRP2):c.12909A>G (p.Gly4303=) rs781277456 0.00002
NM_004525.3(LRP2):c.13090A>G (p.Thr4364Ala) rs769878611 0.00002
NM_004525.3(LRP2):c.13303G>A (p.Val4435Ile) rs751890334 0.00002
NM_004525.3(LRP2):c.13401C>T (p.Leu4467=) rs762776652 0.00002
NM_004525.3(LRP2):c.13807A>G (p.Asn4603Asp) rs112842952 0.00002
NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu) rs140802648 0.00002
NM_004525.3(LRP2):c.13853C>T (p.Ser4618Leu) rs142430940 0.00002
NM_004525.3(LRP2):c.13919A>T (p.Asp4640Val) rs760457856 0.00002
NM_004525.3(LRP2):c.1600G>C (p.Gly534Arg) rs781156096 0.00002
NM_004525.3(LRP2):c.22G>A (p.Val8Met) rs747080240 0.00002
NM_004525.3(LRP2):c.2409T>G (p.Ser803=) rs544785940 0.00002
NM_004525.3(LRP2):c.2782T>G (p.Phe928Val) rs200192222 0.00002
NM_004525.3(LRP2):c.3249C>A (p.His1083Gln) rs2302691 0.00002
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=) rs750430784 0.00002
NM_004525.3(LRP2):c.535T>C (p.Cys179Arg) rs901055782 0.00002
NM_004525.3(LRP2):c.5458G>A (p.Val1820Met) rs753390400 0.00002
NM_004525.3(LRP2):c.5813C>T (p.Thr1938Ile) rs768756085 0.00002
NM_004525.3(LRP2):c.6410T>C (p.Ile2137Thr) rs766753267 0.00002
NM_004525.3(LRP2):c.6419A>G (p.His2140Arg) rs143199431 0.00002
NM_004525.3(LRP2):c.6541C>T (p.Arg2181Cys) rs759670096 0.00002
NM_004525.3(LRP2):c.6815G>A (p.Arg2272His) rs1244543854 0.00002
NM_004525.3(LRP2):c.698G>A (p.Arg233Gln) rs925251257 0.00002
NM_004525.3(LRP2):c.7060T>C (p.Ser2354Pro) rs761522865 0.00002
NM_004525.3(LRP2):c.7661G>A (p.Ser2554Asn) rs200633361 0.00002
NM_004525.3(LRP2):c.770-11T>C rs775535794 0.00002
NM_004525.3(LRP2):c.795A>G (p.Lys265=) rs781748460 0.00002
NM_004525.3(LRP2):c.8000C>T (p.Ala2667Val) rs774660433 0.00002
NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu) rs774369141 0.00002
NM_004525.3(LRP2):c.8581A>G (p.Thr2861Ala) rs763428791 0.00002
NM_004525.3(LRP2):c.8764G>A (p.Glu2922Lys) rs370790771 0.00002
NM_004525.3(LRP2):c.8848G>T (p.Asp2950Tyr) rs770098442 0.00002
NM_004525.3(LRP2):c.8854G>A (p.Glu2952Lys) rs138894447 0.00002
NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr) rs1303301378 0.00002
NM_004525.3(LRP2):c.8922C>T (p.Gly2974=) rs549070265 0.00002
NM_004525.3(LRP2):c.9032+6T>G rs368040043 0.00002
NM_004525.3(LRP2):c.910G>A (p.Gly304Arg) rs570052630 0.00002
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser) rs767616299 0.00002
NM_004539.4(NARS1):c.1264G>A (p.Ala422Thr) rs769070609 0.00002
NM_004560.4(ROR2):c.1154G>A (p.Arg385His) rs755135206 0.00002
NM_004560.4(ROR2):c.1184-10T>C rs184670366 0.00002
NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln) rs780576494 0.00002
NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn) rs768175141 0.00002
NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp) rs1329621652 0.00002
NM_004560.4(ROR2):c.2354G>A (p.Arg785His) rs368059807 0.00002
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004565.3(PEX14):c.14A>G (p.Glu5Gly) rs932921080 0.00002
NM_004565.3(PEX14):c.568G>A (p.Glu190Lys) rs144362955 0.00002
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081 0.00002
NM_004565.3(PEX14):c.931A>T (p.Met311Leu) rs761789278 0.00002
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met) rs748693577 0.00002
NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu) rs1016512710 0.00002
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_004813.4(PEX16):c.13C>T (p.Arg5Trp) rs768102300 0.00002
NM_004813.4(PEX16):c.147G>A (p.Leu49=) rs944696367 0.00002
NM_004813.4(PEX16):c.149-13C>G rs369471815 0.00002
NM_004813.4(PEX16):c.274G>A (p.Val92Met) rs764174581 0.00002
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg) rs764641368 0.00002
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly) rs1394054374 0.00002
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp) rs774218187 0.00002
NM_004813.4(PEX16):c.609C>T (p.His203=) rs537046144 0.00002
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_004813.4(PEX16):c.699C>T (p.Leu233=) rs781411790 0.00002
NM_004813.4(PEX16):c.803G>A (p.Arg268Gln) rs376763841 0.00002
NM_004813.4(PEX16):c.811C>T (p.Arg271Trp) rs777810731 0.00002
NM_004813.4(PEX16):c.937G>A (p.Val313Ile) rs747521980 0.00002
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) rs777668213 0.00002
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) rs779731596 0.00002
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) rs750810139 0.00002
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849 0.00002
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708 0.00002
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016 0.00002
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) rs765112357 0.00002
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) rs769083965 0.00002
NM_004937.3(CTNS):c.*176G>A rs200021713 0.00002
NM_004937.3(CTNS):c.*1889C>T rs557935819 0.00002
NM_004937.3(CTNS):c.*206C>T rs367951710 0.00002
NM_004937.3(CTNS):c.*2243G>A rs897077378 0.00002
NM_004937.3(CTNS):c.*259C>T rs771746416 0.00002
NM_004937.3(CTNS):c.*550G>A rs920508760 0.00002
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys) rs555311279 0.00002
NM_004937.3(CTNS):c.481G>A (p.Asp161Asn) rs371533565 0.00002
NM_004999.4(MYO6):c.*2688A>G rs982469853 0.00002
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) rs768643110 0.00002
NM_004999.4(MYO6):c.2309T>C (p.Met770Thr) rs202216621 0.00002
NM_004999.4(MYO6):c.3659-10A>G rs765929647 0.00002
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332 0.00002
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720 0.00002
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro) rs1360277075 0.00002
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089 0.00002
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr) rs376314818 0.00002
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728 0.00002
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln) rs528268486 0.00002
NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala) rs1158959492 0.00002
NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys) rs753471630 0.00002
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu) rs775146972 0.00002
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val) rs764305772 0.00002
NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile) rs777368467 0.00002
NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys) rs766891698 0.00002
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His) rs373654027 0.00002
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222 0.00002
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His) rs538492176 0.00002
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly) rs1490710264 0.00002
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln) rs764296073 0.00002
NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val) rs769174848 0.00002
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln) rs978882548 0.00002
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) rs764739820 0.00002
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) rs532196989 0.00002
NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly) rs1325994580 0.00002
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly) rs547044466 0.00002
NM_005219.5(DIAPH1):c.933+12C>T rs772703740 0.00002
NM_005219.5(DIAPH1):c.933+6T>C rs948017991 0.00002
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) rs761301503 0.00002
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr) rs779538282 0.00002
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) rs773850619 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_005422.4(TECTA):c.2071G>A (p.Gly691Ser) rs755227541 0.00002
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_005422.4(TECTA):c.4842G>C (p.Leu1614=) rs371071499 0.00002
NM_005529.7(HSPG2):c.10032C>T (p.Thr3344=) rs373818366 0.00002
NM_005529.7(HSPG2):c.10249G>A (p.Val3417Ile) rs369282867 0.00002
NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=) rs762130127 0.00002
NM_005529.7(HSPG2):c.10863G>A (p.Leu3621=) rs576324046 0.00002
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=) rs367617288 0.00002
NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg) rs1383334331 0.00002
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.4396-12C>A rs747704697 0.00002
NM_005529.7(HSPG2):c.5516T>C (p.Val1839Ala) rs751036475 0.00002
NM_005529.7(HSPG2):c.5599G>A (p.Val1867Met) rs1432356929 0.00002
NM_005529.7(HSPG2):c.5701+8C>T rs370899852 0.00002
NM_005529.7(HSPG2):c.5848G>A (p.Val1950Met) rs761763385 0.00002
NM_005529.7(HSPG2):c.64-12G>A rs777907037 0.00002
NM_005529.7(HSPG2):c.780A>T (p.Thr260=) rs767835991 0.00002
NM_005529.7(HSPG2):c.8397T>G (p.Ser2799=) rs186657949 0.00002
NM_005529.7(HSPG2):c.958+5G>A rs537939062 0.00002
NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln) rs752076127 0.00002
NM_005708.5(GPC6):c.*1983T>G rs557395539 0.00002
NM_005708.5(GPC6):c.*2269G>A rs1412559163 0.00002
NM_005708.5(GPC6):c.1088G>A (p.Arg363His) rs765468152 0.00002
NM_005708.5(GPC6):c.1436A>G (p.Asn479Ser) rs566070024 0.00002
NM_005708.5(GPC6):c.1496G>A (p.Ser499Asn) rs374652762 0.00002
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg) rs990147591 0.00002
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp) rs780073328 0.00002
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) rs192644838 0.00002
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) rs532632647 0.00002
NM_005982.4(SIX1):c.*266C>A rs1049363176 0.00002
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) rs767998582 0.00002
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) rs150394063 0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) rs761216725 0.00002
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) rs766900991 0.00002
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) rs563972671 0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) rs199769524 0.00002
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg) rs777964510 0.00002
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) rs200528166 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) rs1252423572 0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504 0.00002
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) rs71537678 0.00002
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn) rs372701023 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006019.4(TCIRG1):c.1165+11C>T rs745876497 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1294G>A (p.Ala432Thr) rs772440359 0.00002
NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=) rs368168053 0.00002
NM_006019.4(TCIRG1):c.1674-8C>T rs754864356 0.00002
NM_006019.4(TCIRG1):c.1875C>G (p.Leu625=) rs758830999 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_006019.4(TCIRG1):c.840G>A (p.Gln280=) rs1436170727 0.00002
NM_006019.4(TCIRG1):c.869C>T (p.Pro290Leu) rs886048596 0.00002
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006118.4(HAX1):c.168C>A (p.His56Gln) rs756371972 0.00002
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg) rs370342620 0.00002
NM_006208.3(ENPP1):c.157A>G (p.Met53Val) rs1328207700 0.00002
NM_006208.3(ENPP1):c.2230+13C>T rs537428242 0.00002
NM_006208.3(ENPP1):c.313+15G>T rs770352358 0.00002
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp) rs146274871 0.00002
NM_006397.3(RNASEH2A):c.425C>T (p.Thr142Ile) rs373008346 0.00002
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys) rs769486587 0.00002
NM_006397.3(RNASEH2A):c.488C>T (p.Thr163Met) rs1046057251 0.00002
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met) rs775597355 0.00002
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp) rs773112247 0.00002
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys) rs771858022 0.00002
NM_006432.5(NPC2):c.*86G>A rs146900446 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn) rs199524638 0.00002
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile) rs762653933 0.00002
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu) rs747363592 0.00002
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr) rs775898129 0.00002
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile) rs776040834 0.00002
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys) rs373999051 0.00002
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys) rs774139674 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp) rs770183847 0.00002
NM_006721.4(ADK):c.*337T>G rs886047238 0.00002
NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys) rs761058767 0.00002
NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg) rs1367297130 0.00002
NM_006736.6(DNAJB2):c.284C>A (p.Thr95Asn) rs1314160406 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006736.6(DNAJB2):c.368T>C (p.Phe123Ser) rs757308369 0.00002
NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu) rs770337874 0.00002
NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys) rs777721164 0.00002
NM_006736.6(DNAJB2):c.544C>T (p.Arg182Cys) rs1055176141 0.00002
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys) rs369758068 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006846.4(SPINK5):c.1061A>G (p.Lys354Arg) rs1164760968 0.00002
NM_006846.4(SPINK5):c.1135C>T (p.Leu379Phe) rs371578291 0.00002
NM_006846.4(SPINK5):c.1342C>T (p.Arg448Trp) rs767146937 0.00002
NM_006846.4(SPINK5):c.1343G>A (p.Arg448Gln) rs375796789 0.00002
NM_006846.4(SPINK5):c.1586G>A (p.Cys529Tyr) rs764286291 0.00002
NM_006846.4(SPINK5):c.1592T>G (p.Met531Arg) rs985590287 0.00002
NM_006846.4(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097 0.00002
NM_006846.4(SPINK5):c.173T>C (p.Met58Thr) rs773557840 0.00002
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro) rs775502935 0.00002
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser) rs377031902 0.00002
NM_006846.4(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211 0.00002
NM_006846.4(SPINK5):c.1957G>C (p.Val653Leu) rs1754031572 0.00002
NM_006846.4(SPINK5):c.209+3G>A rs750310449 0.00002
NM_006846.4(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402 0.00002
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp) rs757605120 0.00002
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=) rs773053071 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys) rs1414330619 0.00002
NM_006846.4(SPINK5):c.3096-6T>C rs766558047 0.00002
NM_006846.4(SPINK5):c.3101G>A (p.Arg1034His) rs775295911 0.00002
NM_006846.4(SPINK5):c.3112A>G (p.Thr1038Ala) rs753654044 0.00002
NM_006846.4(SPINK5):c.3130G>A (p.Gly1044Arg) rs749921895 0.00002
NM_006846.4(SPINK5):c.3182C>T (p.Pro1061Leu) rs771163069 0.00002
NM_006846.4(SPINK5):c.526A>G (p.Thr176Ala) rs200801701 0.00002
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe) rs759053532 0.00002
NM_006892.4(DNMT3B):c.*765G>A rs1172170021 0.00002
NM_006892.4(DNMT3B):c.-267C>A rs751398063 0.00002
NM_006892.4(DNMT3B):c.-62C>G rs886056612 0.00002
NM_006892.4(DNMT3B):c.1091G>A (p.Arg364His) rs369336236 0.00002
NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln) rs148132847 0.00002
NM_006892.4(DNMT3B):c.1297+6G>A rs755091404 0.00002
NM_006892.4(DNMT3B):c.1615C>T (p.Arg539Trp) rs562665925 0.00002
NM_006892.4(DNMT3B):c.1858G>A (p.Gly620Arg) rs932308287 0.00002
NM_006892.4(DNMT3B):c.2221G>A (p.Gly741Arg) rs769823434 0.00002
NM_006892.4(DNMT3B):c.226G>A (p.Gly76Arg) rs545685689 0.00002
NM_006892.4(DNMT3B):c.289C>T (p.Arg97Cys) rs769220144 0.00002
NM_006892.4(DNMT3B):c.377G>C (p.Gly126Ala) rs780085636 0.00002
NM_006892.4(DNMT3B):c.380G>A (p.Arg127Gln) rs754832933 0.00002
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=) rs202113400 0.00002
NM_006892.4(DNMT3B):c.539C>T (p.Thr180Met) rs537913125 0.00002
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=) rs140518698 0.00002
NM_006892.4(DNMT3B):c.85G>A (p.Asp29Asn) rs775216151 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=) rs928593954 0.00002
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=) rs945252214 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 0.00002
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg) rs190896405 0.00002
NM_007259.5(VPS45):c.1157G>A (p.Arg386His) rs781997687 0.00002
NM_007259.5(VPS45):c.1371+5A>G rs369221126 0.00002
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) rs782426640 0.00002
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val) rs373074422 0.00002
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) rs782052786 0.00002
NM_012188.5(FOXI1):c.*74G>A rs1235816008 0.00002
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 0.00002
NM_012210.4(TRIM32):c.*530C>T rs192837427 0.00002
NM_012210.4(TRIM32):c.*935A>G rs886063384 0.00002
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly) rs774316527 0.00002
NM_012210.4(TRIM32):c.1169G>A (p.Arg390His) rs146094774 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile) rs368901621 0.00002
NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln) rs199704873 0.00002
NM_012210.4(TRIM32):c.212C>T (p.Thr71Ile) rs779530342 0.00002
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln) rs949658602 0.00002
NM_012210.4(TRIM32):c.326G>A (p.Arg109Gln) rs748324526 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012210.4(TRIM32):c.374A>G (p.Glu125Gly) rs758786326 0.00002
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) rs552938001 0.00002
NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln) rs759945386 0.00002
NM_012210.4(TRIM32):c.712C>T (p.Arg238Cys) rs769410403 0.00002
NM_012210.4(TRIM32):c.737T>C (p.Ile246Thr) rs533236140 0.00002
NM_012210.4(TRIM32):c.86A>G (p.Glu29Gly) rs757842932 0.00002
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln) rs766439806 0.00002
NM_012210.4(TRIM32):c.907G>A (p.Val303Met) rs144532174 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) rs201430480 0.00002
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) rs776999297 0.00002
NM_012414.4(RAB3GAP2):c.*1791T>C rs556118037 0.00002
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) rs749859259 0.00002
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) rs572722938 0.00002
NM_012414.4(RAB3GAP2):c.3094C>T (p.Arg1032Cys) rs777414532 0.00002
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359 0.00002
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) rs1029887970 0.00002
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) rs1057524739 0.00002
NM_012414.4(RAB3GAP2):c.448C>T (p.Arg150Cys) rs767664284 0.00002
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) rs146337693 0.00002
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) rs371921545 0.00002
NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) rs945497674 0.00002
NM_012448.4(STAT5B):c.1775+3G>A rs1171483179 0.00002
NM_012448.4(STAT5B):c.2329A>G (p.Met777Val) rs765607800 0.00002
NM_012448.4(STAT5B):c.59C>T (p.Ala20Val) rs935891734 0.00002
NM_012463.4(ATP6V0A2):c.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala) rs773715692 0.00002
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His) rs568570865 0.00002
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe) rs1251641134 0.00002
NM_013382.7(POMT2):c.*1053A>G rs886050817 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser) rs778014493 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1653+5G>T rs755390432 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg) rs755782894 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) rs762885008 0.00002
NM_014028.4(OSTM1):c.*1844T>G rs1270573422 0.00002
NM_014028.4(OSTM1):c.279C>T (p.Asn93=) rs542761263 0.00002
NM_014028.4(OSTM1):c.558A>G (p.Thr186=) rs150309395 0.00002
NM_014053.3(FLVCR1):c.-181A>G rs886045921 0.00002
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) rs550517136 0.00002
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu) rs766483912 0.00002
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn) rs755239032 0.00002
NM_014321.4(ORC6):c.*363C>T rs768612856 0.00002
NM_014321.4(ORC6):c.-19T>C rs779856890 0.00002
NM_014321.4(ORC6):c.430G>A (p.Ala144Thr) rs1369065092 0.00002
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_014363.6(SACS):c.*218T>C rs907847986 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr) rs781590547 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) rs572068106 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) rs375722463 0.00002
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179 0.00002
NM_014363.6(SACS):c.1608G>A (p.Pro536=) rs745730439 0.00002
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser) rs200831217 0.00002
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr) rs770007806 0.00002
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360 0.00002
NM_014363.6(SACS):c.5466T>C (p.Thr1822=) rs757576348 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806 0.00002
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813 0.00002
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) rs779973547 0.00002
NM_014363.6(SACS):c.7454A>T (p.His2485Leu) rs1420170258 0.00002
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu) rs377626385 0.00002
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys) rs761690372 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014425.5(INVS):c.1607G>A (p.Arg536His) rs752692382 0.00002
NM_014425.5(INVS):c.166G>A (p.Val56Met) rs778036236 0.00002
NM_014425.5(INVS):c.2001C>T (p.Gly667=) rs536554704 0.00002
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro) rs762112247 0.00002
NM_014425.5(INVS):c.2204G>A (p.Cys735Tyr) rs375485537 0.00002
NM_014425.5(INVS):c.2263G>A (p.Glu755Lys) rs774692372 0.00002
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln) rs753540322 0.00002
NM_014425.5(INVS):c.2696G>A (p.Arg899Gln) rs142177132 0.00002
NM_014425.5(INVS):c.2774G>A (p.Arg925His) rs370713515 0.00002
NM_014425.5(INVS):c.2959T>C (p.Ser987Pro) rs779291688 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.3080G>A (p.Arg1027His) rs774849762 0.00002
NM_014425.5(INVS):c.3103C>G (p.Gln1035Glu) rs776279048 0.00002
NM_014425.5(INVS):c.3106T>C (p.Cys1036Arg) rs1444531400 0.00002
NM_014425.5(INVS):c.337G>A (p.Glu113Lys) rs747572974 0.00002
NM_014425.5(INVS):c.515A>G (p.Asp172Gly) rs377683634 0.00002
NM_014780.5(CUL7):c.1689T>C (p.His563=) rs753550369 0.00002
NM_014780.5(CUL7):c.1823A>G (p.Glu608Gly) rs199819170 0.00002
NM_014780.5(CUL7):c.2818C>T (p.Arg940Cys) rs150327473 0.00002
NM_014780.5(CUL7):c.3080G>A (p.Arg1027His) rs142250046 0.00002
NM_014780.5(CUL7):c.3332C>T (p.Pro1111Leu) rs760768495 0.00002
NM_014780.5(CUL7):c.4059C>T (p.Ser1353=) rs748157885 0.00002
NM_014780.5(CUL7):c.866G>C (p.Arg289Thr) rs753386800 0.00002
NM_014797.3(ZBTB24):c.1208A>G (p.His403Arg) rs140690133 0.00002
NM_014797.3(ZBTB24):c.140A>G (p.His47Arg) rs140297798 0.00002
NM_014797.3(ZBTB24):c.1996G>A (p.Asp666Asn) rs766496267 0.00002
NM_014797.3(ZBTB24):c.2068A>G (p.Thr690Ala) rs756260680 0.00002
NM_014797.3(ZBTB24):c.818A>G (p.Gln273Arg) rs764851596 0.00002
NM_014797.3(ZBTB24):c.883C>T (p.Arg295Cys) rs773712148 0.00002
NM_014797.3(ZBTB24):c.944G>C (p.Ser315Thr) rs558624893 0.00002
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His) rs753457122 0.00002
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp) rs756124282 0.00002
NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val) rs570222707 0.00002
NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp) rs757906025 0.00002
NM_014918.5(CHSY1):c.686G>A (p.Arg229Gln) rs757665488 0.00002
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys) rs768914522 0.00002
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg) rs2042173742 0.00002
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro) rs557486197 0.00002
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val) rs1213789533 0.00002
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser) rs1481684034 0.00002
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu) rs773140295 0.00002
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu) rs1470761164 0.00002
NM_014956.5(CEP164):c.2362-14G>A rs1035815151 0.00002
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala) rs750842640 0.00002
NM_014956.5(CEP164):c.2494-3C>T rs763312597 0.00002
NM_014956.5(CEP164):c.2726G>A (p.Arg909His) rs530932318 0.00002
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val) rs778872289 0.00002
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687 0.00002
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val) rs770370539 0.00002
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr) rs375136293 0.00002
NM_014956.5(CEP164):c.3501+4A>G rs1180692184 0.00002
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu) rs746686807 0.00002
NM_014956.5(CEP164):c.3609+3G>A rs148009946 0.00002
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met) rs774641136 0.00002
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg) rs781132728 0.00002
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly) rs748810265 0.00002
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys) rs149806421 0.00002
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg) rs1281252703 0.00002
NM_014994.3(MAPKBP1):c.2230C>T (p.Arg744Cys) rs756233868 0.00002
NM_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) rs771168824 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015102.5(NPHP4):c.1063G>T (p.Ala355Ser) rs761112031 0.00002
NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg) rs770741381 0.00002
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu) rs367909950 0.00002
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met) rs754829412 0.00002
NM_015102.5(NPHP4):c.1471G>A (p.Ala491Thr) rs200462413 0.00002
NM_015102.5(NPHP4):c.152T>C (p.Leu51Pro) rs775055035 0.00002
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser) rs750626428 0.00002
NM_015102.5(NPHP4):c.1929G>A (p.Met643Ile) rs779995407 0.00002
NM_015102.5(NPHP4):c.1996G>A (p.Val666Met) rs372909916 0.00002
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile) rs368327650 0.00002
NM_015102.5(NPHP4):c.2091C>T (p.Gly697=) rs531162424 0.00002
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu) rs755418982 0.00002
NM_015102.5(NPHP4):c.2304+6G>A rs751418752 0.00002
NM_015102.5(NPHP4):c.2347G>A (p.Glu783Lys) rs1349132502 0.00002
NM_015102.5(NPHP4):c.2429C>T (p.Pro810Leu) rs577635238 0.00002
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu) rs202165848 0.00002
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp) rs754364004 0.00002
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys) rs373603595 0.00002
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg) rs370946873 0.00002
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp) rs766073255 0.00002
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser) rs369529384 0.00002
NM_015102.5(NPHP4):c.3200G>C (p.Ser1067Thr) rs1313851585 0.00002
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg) rs373981841 0.00002
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp) rs755637892 0.00002
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu) rs758458943 0.00002
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys) rs751325206 0.00002
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val) rs758049366 0.00002
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala) rs1038494626 0.00002
NM_015102.5(NPHP4):c.3723C>T (p.Val1241=) rs375485412 0.00002
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr) rs370942610 0.00002
NM_015102.5(NPHP4):c.3816+5G>A rs971158630 0.00002
NM_015102.5(NPHP4):c.394A>T (p.Ile132Phe) rs745735818 0.00002
NM_015102.5(NPHP4):c.3977G>A (p.Arg1326His) rs191062831 0.00002
NM_015102.5(NPHP4):c.4006A>G (p.Ile1336Val) rs760369582 0.00002
NM_015102.5(NPHP4):c.4144G>A (p.Gly1382Arg) rs761124428 0.00002
NM_015102.5(NPHP4):c.421G>A (p.Asp141Asn) rs763993912 0.00002
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) rs779760001 0.00002
NM_015102.5(NPHP4):c.695G>A (p.Arg232His) rs1221753633 0.00002
NM_015102.5(NPHP4):c.6C>T (p.Asn2=) rs371472576 0.00002
NM_015102.5(NPHP4):c.845T>A (p.Ile282Asn) rs753652250 0.00002
NM_015102.5(NPHP4):c.854G>A (p.Arg285Gln) rs760388814 0.00002
NM_015102.5(NPHP4):c.910G>A (p.Val304Ile) rs571395593 0.00002
NM_015272.5(RPGRIP1L):c.*1206C>T rs1437795784 0.00002
NM_015272.5(RPGRIP1L):c.*822A>G rs554221378 0.00002
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_015294.6(TRIM37):c.*598C>T rs926813788 0.00002
NM_015294.6(TRIM37):c.1200-11A>G rs781195873 0.00002
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) rs767616734 0.00002
NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu) rs773999459 0.00002
NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln) rs370363504 0.00002
NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) rs771196625 0.00002
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) rs201913713 0.00002
NM_015311.3(OBSL1):c.2101G>A (p.Gly701Ser) rs200180548 0.00002
NM_015311.3(OBSL1):c.2587C>T (p.Arg863Cys) rs765280401 0.00002
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) rs558191826 0.00002
NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His) rs753490289 0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_015311.3(OBSL1):c.4152C>T (p.Ser1384=) rs957696912 0.00002
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) rs372036582 0.00002
NM_015311.3(OBSL1):c.463C>T (p.Pro155Ser) rs547450690 0.00002
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) rs368349283 0.00002
NM_015311.3(OBSL1):c.765C>T (p.Phe255=) rs751927713 0.00002
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) rs555619169 0.00002
NM_015404.4(WHRN):c.324A>G (p.Gln108=) rs763014940 0.00002
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922 0.00002
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val) rs751309562 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met) rs529220118 0.00002
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe) rs780617865 0.00002
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg) rs761306482 0.00002
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys) rs747675634 0.00002
NM_015602.4(TOR1AIP1):c.1298A>G (p.Tyr433Cys) rs201975339 0.00002
NM_015602.4(TOR1AIP1):c.1328G>A (p.Arg443Gln) rs148871236 0.00002
NM_015602.4(TOR1AIP1):c.205G>T (p.Asp69Tyr) rs537204281 0.00002
NM_015602.4(TOR1AIP1):c.289G>A (p.Glu97Lys) rs761950048 0.00002
NM_015602.4(TOR1AIP1):c.454C>T (p.Arg152Trp) rs771916953 0.00002
NM_015602.4(TOR1AIP1):c.796+5G>A rs774612888 0.00002
NM_015602.4(TOR1AIP1):c.884C>T (p.Ala295Val) rs147648930 0.00002
NM_015650.4(TRAF3IP1):c.1408C>T (p.Arg470Trp) rs569480234 0.00002
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile) rs528303561 0.00002
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln) rs376890875 0.00002
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) rs777173046 0.00002
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr) rs188779949 0.00002
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861 0.00002
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp) rs745644146 0.00002
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys) rs375755957 0.00002
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His) rs202236985 0.00002
NM_015662.3(IFT172):c.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650 0.00002
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp) rs779681475 0.00002
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_015910.7(WDPCP):c.*104A>C rs886056222 0.00002
NM_015910.7(WDPCP):c.*559G>A rs1374866370 0.00002
NM_015910.7(WDPCP):c.1379A>T (p.Asp460Val) rs367834809 0.00002
NM_015910.7(WDPCP):c.1436-4A>G rs773663574 0.00002
NM_015910.7(WDPCP):c.151C>T (p.His51Tyr) rs779689937 0.00002
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp) rs761696659 0.00002
NM_015910.7(WDPCP):c.1916-4A>G rs764595056 0.00002
NM_015910.7(WDPCP):c.2003C>T (p.Pro668Leu) rs757409957 0.00002
NM_015910.7(WDPCP):c.208+6G>T rs775227440 0.00002
NM_015910.7(WDPCP):c.2210C>A (p.Ser737Tyr) rs746369214 0.00002
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile) rs778069760 0.00002
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu) rs758543575 0.00002
NM_015910.7(WDPCP):c.499+9C>T rs746261282 0.00002
NM_015910.7(WDPCP):c.685C>G (p.Leu229Val) rs762453550 0.00002
NM_015910.7(WDPCP):c.771T>A (p.Ser257=) rs764847886 0.00002
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016042.4(EXOSC3):c.*194G>C rs886063933 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016122.3(CEP83):c.1084G>A (p.Val362Ile) rs1421579602 0.00002
NM_016122.3(CEP83):c.1132C>T (p.Arg378Cys) rs373382478 0.00002
NM_016122.3(CEP83):c.1819G>A (p.Val607Ile) rs750912882 0.00002
NM_016122.3(CEP83):c.388A>G (p.Met130Val) rs756155321 0.00002
NM_016122.3(CEP83):c.397C>T (p.Arg133Cys) rs781589254 0.00002
NM_016122.3(CEP83):c.454C>T (p.Arg152Cys) rs377256366 0.00002
NM_016122.3(CEP83):c.563A>C (p.Glu188Ala) rs898088818 0.00002
NM_016122.3(CEP83):c.611C>G (p.Thr204Arg) rs749493316 0.00002
NM_016122.3(CEP83):c.653T>C (p.Val218Ala) rs761638508 0.00002
NM_016122.3(CEP83):c.695C>T (p.Ala232Val) rs376769010 0.00002
NM_016122.3(CEP83):c.728C>T (p.Ala243Val) rs747518082 0.00002
NM_016122.3(CEP83):c.749G>T (p.Arg250Ile) rs745525513 0.00002
NM_016122.3(CEP83):c.932A>C (p.Lys311Thr) rs375493761 0.00002
NM_016219.5(MAN1B1):c.*259G>A rs886063732 0.00002
NM_016219.5(MAN1B1):c.*489G>A rs572418621 0.00002
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser) rs760557104 0.00002
NM_016219.5(MAN1B1):c.2056T>C (p.Phe686Leu) rs754917525 0.00002
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=) rs779234844 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg) rs201673635 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_016239.4(MYO15A):c.2805C>T (p.Pro935=) rs775694870 0.00002
NM_016239.4(MYO15A):c.2926C>T (p.Leu976Phe) rs565870287 0.00002
NM_016239.4(MYO15A):c.3652C>G (p.Gln1218Glu) rs373112966 0.00002
NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser) rs374088232 0.00002
NM_016239.4(MYO15A):c.4038+3A>G rs564616200 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) rs544020493 0.00002
NM_016239.4(MYO15A):c.5649+13C>T rs539268741 0.00002
NM_016239.4(MYO15A):c.5776C>T (p.Arg1926Cys) rs539637895 0.00002
NM_016239.4(MYO15A):c.6601G>C (p.Gly2201Arg) rs1233040127 0.00002
NM_016239.4(MYO15A):c.8431G>A (p.Gly2811Arg) rs181229675 0.00002
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) rs761861080 0.00002
NM_016239.4(MYO15A):c.8825G>A (p.Arg2942His) rs374985544 0.00002
NM_016239.4(MYO15A):c.9859G>A (p.Gly3287Ser) rs756488169 0.00002
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys) rs746347880 0.00002
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) rs773020868 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 0.00002
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys) rs770155582 0.00002
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp) rs1385155926 0.00002
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu) rs1474278988 0.00002
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu) rs1484856529 0.00002
NM_016373.4(WWOX):c.282G>A (p.Val94=) rs771301969 0.00002
NM_016373.4(WWOX):c.410-3T>C rs201178351 0.00002
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn) rs750464034 0.00002
NM_016373.4(WWOX):c.439C>T (p.His147Tyr) rs746480783 0.00002
NM_016373.4(WWOX):c.440A>G (p.His147Arg) rs188859796 0.00002
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr) rs779724017 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_016373.4(WWOX):c.658C>G (p.Leu220Val) rs770774574 0.00002
NM_016373.4(WWOX):c.697C>A (p.His233Asn) rs757863128 0.00002
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr) rs941156863 0.00002
NM_016373.4(WWOX):c.791+4G>T rs766952918 0.00002
NM_016373.4(WWOX):c.791+5G>C rs756074406 0.00002
NM_016373.4(WWOX):c.919C>G (p.Leu307Val) rs200320711 0.00002
NM_016373.4(WWOX):c.962T>C (p.Val321Ala) rs774783221 0.00002
NM_016373.4(WWOX):c.966T>A (p.His322Gln) rs750797952 0.00002
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys) rs369281766 0.00002
NM_016464.5(TMEM138):c.*548G>A rs1565080891 0.00002
NM_016464.5(TMEM138):c.136G>C (p.Asp46His) rs375503806 0.00002
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys) rs202210746 0.00002
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) rs754118526 0.00002
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His) rs760786490 0.00002
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr) rs1307880504 0.00002
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) rs372018326 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_016938.5(EFEMP2):c.279C>T (p.Gly93=) rs769750626 0.00002
NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser) rs756704201 0.00002
NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys) rs1394549414 0.00002
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr) rs778873365 0.00002
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) rs373202527 0.00002
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) rs749794461 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_016938.5(EFEMP2):c.941G>A (p.Arg314His) rs760501413 0.00002
NM_017433.5(MYO3A):c.3537G>A (p.Val1179=) rs774297046 0.00002
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp) rs781491587 0.00002
NM_017739.4(POMGNT1):c.1027-5C>G rs779435288 0.00002
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp) rs774633618 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met) rs764388322 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro) rs779506923 0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp) rs770834730 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053 0.00002
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) rs1188660252 0.00002
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln) rs770634205 0.00002
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His) rs756234628 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_017739.4(POMGNT1):c.879+3G>A rs1411537744 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met) rs765980130 0.00002
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly) rs762093598 0.00002
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=) rs752702755 0.00002
NM_017755.6(NSUN2):c.255-4A>G rs201837443 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) rs762529599 0.00002
NM_017838.4(NHP2):c.50C>T (p.Ala17Val) rs1467408923 0.00002
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00002
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
NM_018075.4(ANO10):c.-140G>A rs886058485 0.00002
NM_018075.5(ANO10):c.1643C>A (p.Pro548His) rs538680619 0.00002
NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn) rs794727443 0.00002
NM_018136.5(ASPM):c.1310G>A (p.Arg437His) rs551198579 0.00002
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) rs759534488 0.00002
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg) rs763381773 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2629+3A>G rs758509567 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 0.00002
NM_018136.5(ASPM):c.3480T>A (p.Ala1160=) rs373180437 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_018136.5(ASPM):c.3871-8T>C rs770297822 0.00002
NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp) rs371997190 0.00002
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys) rs780484121 0.00002
NM_018136.5(ASPM):c.489A>G (p.Thr163=) rs372355541 0.00002
NM_018136.5(ASPM):c.5478A>C (p.Ile1826=) rs764346876 0.00002
NM_018136.5(ASPM):c.582T>C (p.Ala194=) rs556849969 0.00002
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val) rs368693433 0.00002
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala) rs587783253 0.00002
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly) rs765139526 0.00002
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly) rs373818179 0.00002
NM_018136.5(ASPM):c.6843A>T (p.Arg2281Ser) rs749279060 0.00002
NM_018136.5(ASPM):c.7841A>G (p.Asp2614Gly) rs587783273 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018249.6(CDK5RAP2):c.2484G>A (p.Lys828=) rs745541294 0.00002
NM_018249.6(CDK5RAP2):c.3174C>A (p.Asp1058Glu) rs143639333 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met) rs113810922 0.00002
NM_018319.4(TDP1):c.-232A>C rs886050882 0.00002
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys) rs369742694 0.00002
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu) rs113382706 0.00002
NM_018389.5(SLC35C1):c.*561C>T rs934108329 0.00002
NM_018389.5(SLC35C1):c.-218G>C rs564660234 0.00002
NM_018389.5(SLC35C1):c.-481G>A rs886048310 0.00002
NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile) rs776527276 0.00002
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018429.3(BDP1):c.6809-2A>G rs777466033 0.00002
NM_018451.5(CENPJ):c.*26C>T rs372867684 0.00002
NM_018451.5(CENPJ):c.*569A>G rs544072060 0.00002
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) rs773079639 0.00002
NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile) rs768682361 0.00002
NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys) rs199749446 0.00002
NM_018451.5(CENPJ):c.3618+7T>C rs769845659 0.00002
NM_018451.5(CENPJ):c.3965G>A (p.Arg1322Gln) rs775936765 0.00002
NM_018718.3(CEP41):c.*2605C>T rs886061992 0.00002
NM_018718.3(CEP41):c.*277A>G rs886062001 0.00002
NM_018718.3(CEP41):c.*4417G>A rs886061988 0.00002
NM_018718.3(CEP41):c.*4464T>C rs886061987 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr) rs201490201 0.00002
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter) rs139909606 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser) rs781914996 0.00002
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe) rs782265732 0.00002
NM_018718.3(CEP41):c.653A>C (p.His218Pro) rs527896814 0.00002
NM_018718.3(CEP41):c.664A>G (p.Ile222Val) rs560824415 0.00002
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu) rs782241458 0.00002
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu) rs782704918 0.00002
NM_018972.4(GDAP1):c.*1030T>C rs576789317 0.00002
NM_018972.4(GDAP1):c.*697A>G rs766828605 0.00002
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226 0.00002
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975 0.00002
NM_018972.4(GDAP1):c.389C>A (p.Ser130Tyr) rs147295250 0.00002
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) rs762473236 0.00002
NM_018972.4(GDAP1):c.782T>C (p.Leu261Pro) rs745398081 0.00002
NM_020247.5(COQ8A):c.*613G>A rs537646948 0.00002
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066 0.00002
NM_020247.5(COQ8A):c.1257-9C>T rs200440257 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 0.00002
NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys) rs1422916311 0.00002
NM_020347.4(LZTFL1):c.815G>A (p.Arg272Gln) rs185326114 0.00002
NM_020458.4(TTC7A):c.1016A>G (p.Lys339Arg) rs777088531 0.00002
NM_020458.4(TTC7A):c.1183C>G (p.Gln395Glu) rs556624885 0.00002
NM_020458.4(TTC7A):c.1388G>A (p.Arg463His) rs761123950 0.00002
NM_020458.4(TTC7A):c.1419G>A (p.Met473Ile) rs751253516 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.1544G>A (p.Arg515Gln) rs762902490 0.00002
NM_020458.4(TTC7A):c.163G>A (p.Ala55Thr) rs963602999 0.00002
NM_020458.4(TTC7A):c.1978A>T (p.Met660Leu) rs375666264 0.00002
NM_020458.4(TTC7A):c.2318C>T (p.Thr773Met) rs757752980 0.00002
NM_020458.4(TTC7A):c.2335G>A (p.Val779Met) rs758051924 0.00002
NM_020458.4(TTC7A):c.2488G>A (p.Glu830Lys) rs375318915 0.00002
NM_020458.4(TTC7A):c.46G>A (p.Glu16Lys) rs775389933 0.00002
NM_020458.4(TTC7A):c.497C>T (p.Ser166Leu) rs752931401 0.00002
NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr) rs762989436 0.00002
NM_020458.4(TTC7A):c.668C>T (p.Ser223Leu) rs267599393 0.00002
NM_020458.4(TTC7A):c.805C>T (p.Arg269Trp) rs779629005 0.00002
NM_020458.4(TTC7A):c.848C>T (p.Ala283Val) rs752828560 0.00002
NM_020458.4(TTC7A):c.89C>T (p.Pro30Leu) rs750887765 0.00002
NM_020458.4(TTC7A):c.973C>T (p.Arg325Trp) rs777393270 0.00002
NM_020458.4(TTC7A):c.989A>G (p.Tyr330Cys) rs745812496 0.00002
NM_020631.5(PLEKHG5):c.*1006C>T rs886046489 0.00002
NM_020631.5(PLEKHG5):c.*1354T>C rs886046485 0.00002
NM_020631.5(PLEKHG5):c.*905G>A rs886046490 0.00002
NM_020631.6(PLEKHG5):c.-54C>T rs1056358234 0.00002
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569 0.00002
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) rs199839017 0.00002
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met) rs376903637 0.00002
NM_020631.6(PLEKHG5):c.1643A>G (p.Tyr548Cys) rs749530565 0.00002
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val) rs761560984 0.00002
NM_020631.6(PLEKHG5):c.1826C>T (p.Thr609Met) rs553151077 0.00002
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met) rs768944520 0.00002
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331 0.00002
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys) rs776282542 0.00002
NM_020631.6(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436 0.00002
NM_020631.6(PLEKHG5):c.2216G>A (p.Arg739Gln) rs754583609 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2524C>T (p.Arg842Trp) rs770870023 0.00002
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) rs758214289 0.00002
NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144 0.00002
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 0.00002
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser) rs573883242 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416 0.00002
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro) rs368905339 0.00002
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn) rs769576836 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn) rs886471004 0.00002
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp) rs766490061 0.00002
NM_020631.6(PLEKHG5):c.767C>T (p.Ser256Phe) rs376782083 0.00002
NM_020631.6(PLEKHG5):c.795+13A>G rs766753209 0.00002
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=) rs750420028 0.00002
NM_020632.3(ATP6V0A4):c.970G>A (p.Glu324Lys) rs1293966606 0.00002
NM_020661.4(AICDA):c.376C>T (p.Leu126=) rs999930122 0.00002
NM_020661.4(AICDA):c.408A>G (p.Ile136Met) rs887002786 0.00002
NM_020661.4(AICDA):c.569G>A (p.Arg190Gln) rs747680644 0.00002
NM_020751.3(COG6):c.119A>G (p.His40Arg) rs148246113 0.00002
NM_020751.3(COG6):c.134C>T (p.Thr45Met) rs545371712 0.00002
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly) rs746119230 0.00002
NM_020751.3(COG6):c.1892dup (p.Met632fs) rs1486717174 0.00002
NM_020779.4(WDR35):c.*297A>G rs886891593 0.00002
NM_020779.4(WDR35):c.*305T>C rs1404107870 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020779.4(WDR35):c.1798A>G (p.Met600Val) rs751974091 0.00002
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) rs754056303 0.00002
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg) rs771708013 0.00002
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) rs886055405 0.00002
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys) rs369793891 0.00002
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr) rs1388421523 0.00002
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) rs190070503 0.00002
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg) rs757871845 0.00002
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys) rs1228498799 0.00002
NM_020921.4(NIN):c.349G>A (p.Val117Met) rs374373270 0.00002
NM_020964.3(EPG5):c.1045C>T (p.His349Tyr) rs773880955 0.00002
NM_020964.3(EPG5):c.1104C>T (p.Phe368=) rs562098384 0.00002
NM_020964.3(EPG5):c.1612C>T (p.Arg538Trp) rs372785168 0.00002
NM_020964.3(EPG5):c.1782T>G (p.Phe594Leu) rs888785002 0.00002
NM_020964.3(EPG5):c.1814C>T (p.Thr605Ile) rs371526822 0.00002
NM_020964.3(EPG5):c.1943+4A>G rs368879665 0.00002
NM_020964.3(EPG5):c.2181G>A (p.Met727Ile) rs370714624 0.00002
NM_020964.3(EPG5):c.290C>T (p.Thr97Met) rs371113007 0.00002
NM_020964.3(EPG5):c.29_34dup (p.Arg10_Ala11dup) rs2051286087 0.00002
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630 0.00002
NM_020964.3(EPG5):c.3175C>T (p.His1059Tyr) rs200633997 0.00002
NM_020964.3(EPG5):c.320G>A (p.Gly107Glu) rs766983961 0.00002
NM_020964.3(EPG5):c.3307G>T (p.Val1103Phe) rs1037521116 0.00002
NM_020964.3(EPG5):c.3422G>A (p.Gly1141Asp) rs776414813 0.00002
NM_020964.3(EPG5):c.3683C>T (p.Thr1228Met) rs556565796 0.00002
NM_020964.3(EPG5):c.3878G>A (p.Arg1293His) rs781740724 0.00002
NM_020964.3(EPG5):c.3964C>T (p.Arg1322Cys) rs201983775 0.00002
NM_020964.3(EPG5):c.404C>G (p.Pro135Arg) rs773717848 0.00002
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074 0.00002
NM_020964.3(EPG5):c.4521G>C (p.Gln1507His) rs758611855 0.00002
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser) rs370120497 0.00002
NM_020964.3(EPG5):c.4966G>T (p.Ala1656Ser) rs756852013 0.00002
NM_020964.3(EPG5):c.5109+6G>T rs767652682 0.00002
NM_020964.3(EPG5):c.5213C>T (p.Ala1738Val) rs768237272 0.00002
NM_020964.3(EPG5):c.5432T>G (p.Phe1811Cys) rs759019063 0.00002
NM_020964.3(EPG5):c.6518C>T (p.Pro2173Leu) rs1476353006 0.00002
NM_020964.3(EPG5):c.6623A>G (p.Asp2208Gly) rs1177226409 0.00002
NM_020964.3(EPG5):c.6632C>T (p.Pro2211Leu) rs769830823 0.00002
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly) rs1171989598 0.00002
NM_020964.3(EPG5):c.970C>T (p.Arg324Trp) rs779260764 0.00002
NM_021252.5(RAB18):c.*1943G>A rs560571679 0.00002
NM_021252.5(RAB18):c.*325C>G rs886046970 0.00002
NM_021252.5(RAB18):c.*3766C>A rs1414340838 0.00002
NM_021252.5(RAB18):c.*4038A>T rs746250477 0.00002
NM_021252.5(RAB18):c.*8G>A rs371434806 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_021942.6(TRAPPC11):c.1198G>A (p.Gly400Arg) rs947836057 0.00002
NM_021942.6(TRAPPC11):c.130C>T (p.Arg44Trp) rs757210292 0.00002
NM_021942.6(TRAPPC11):c.1895A>G (p.Glu632Gly) rs1027270333 0.00002
NM_021942.6(TRAPPC11):c.2162G>A (p.Arg721Gln) rs777361172 0.00002
NM_021942.6(TRAPPC11):c.2180C>T (p.Pro727Leu) rs371182334 0.00002
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val) rs368432060 0.00002
NM_021942.6(TRAPPC11):c.2525A>G (p.Tyr842Cys) rs551102193 0.00002
NM_021942.6(TRAPPC11):c.2645T>C (p.Ile882Thr) rs763006851 0.00002
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys) rs1275717721 0.00002
NM_021942.6(TRAPPC11):c.2951T>C (p.Ile984Thr) rs756061183 0.00002
NM_021942.6(TRAPPC11):c.3002T>A (p.Val1001Asp) rs200989029 0.00002
NM_021942.6(TRAPPC11):c.3062C>T (p.Pro1021Leu) rs371103166 0.00002
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro) rs368699954 0.00002
NM_021942.6(TRAPPC11):c.660+4C>T rs559118514 0.00002
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu) rs368689327 0.00002
NM_021942.6(TRAPPC11):c.948T>G (p.Asp316Glu) rs1327422485 0.00002
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile) rs745663188 0.00002
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp) rs745990822 0.00002
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser) rs753014812 0.00002
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp) rs771028755 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys) rs770576740 0.00002
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) rs748309608 0.00002
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) rs760443267 0.00002
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462 0.00002
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys) rs750152147 0.00002
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) rs760021599 0.00002
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys) rs770682887 0.00002
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala) rs558165485 0.00002
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) rs756516383 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys) rs768327980 0.00002
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) rs753087058 0.00002
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln) rs767725094 0.00002
NM_022089.4(ATP13A2):c.2251+6A>C rs773458244 0.00002
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) rs754208001 0.00002
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) rs370356637 0.00002
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met) rs749677780 0.00002
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln) rs747907490 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val) rs764125787 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys) rs376963085 0.00002
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) rs754074592 0.00002
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser) rs776406555 0.00002
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) rs772414750 0.00002
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met) rs771174890 0.00002
NM_022098.4(XPNPEP3):c.*1427G>A rs886057518 0.00002
NM_022098.4(XPNPEP3):c.*1449A>G rs886057519 0.00002
NM_022098.4(XPNPEP3):c.*3840G>A rs886057540 0.00002
NM_022098.4(XPNPEP3):c.*4158A>G rs1244245399 0.00002
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met) rs746834434 0.00002
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) rs376537401 0.00002
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His) rs765298747 0.00002
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135 0.00002
NM_022124.6(CDH23):c.1370G>A (p.Arg457Gln) rs755373877 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.1636C>T (p.Arg546Trp) rs1319955478 0.00002
NM_022124.6(CDH23):c.1858+6T>C rs745522676 0.00002
NM_022124.6(CDH23):c.1978G>A (p.Glu660Lys) rs762287437 0.00002
NM_022124.6(CDH23):c.2038G>A (p.Val680Met) rs760334573 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.2290-3C>T rs182365129 0.00002
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371 0.00002
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln) rs747849852 0.00002
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met) rs763379895 0.00002
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg) rs776158881 0.00002
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met) rs1478583640 0.00002
NM_022124.6(CDH23):c.39G>T (p.Trp13Cys) rs1325941288 0.00002
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) rs768452198 0.00002
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr) rs773262846 0.00002
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=) rs201008425 0.00002
NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln) rs369353175 0.00002
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.4739G>A (p.Arg1580His) rs747067009 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His) rs189361642 0.00002
NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu) rs376114326 0.00002
NM_022124.6(CDH23):c.5386C>A (p.Pro1796Thr) rs776996577 0.00002
NM_022124.6(CDH23):c.5443G>A (p.Ala1815Thr) rs199581934 0.00002
NM_022124.6(CDH23):c.5611G>A (p.Ala1871Thr) rs766404226 0.00002
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr) rs757570269 0.00002
NM_022124.6(CDH23):c.5810T>C (p.Ile1937Thr) rs746883593 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00002
NM_022124.6(CDH23):c.6086G>A (p.Arg2029Gln) rs542400234 0.00002
NM_022124.6(CDH23):c.6194A>G (p.Asn2065Ser) rs765490119 0.00002
NM_022124.6(CDH23):c.6517G>A (p.Glu2173Lys) rs770659035 0.00002
NM_022124.6(CDH23):c.7054+6T>C rs750286810 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.7225-11C>G rs1393666972 0.00002
NM_022124.6(CDH23):c.7462C>T (p.Arg2488Cys) rs909808363 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.758C>T (p.Thr253Met) rs765002368 0.00002
NM_022124.6(CDH23):c.7661-8A>G rs754067214 0.00002
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln) rs769627991 0.00002
NM_022124.6(CDH23):c.7936G>C (p.Gly2646Arg) rs747025744 0.00002
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln) rs1235821368 0.00002
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=) rs767480784 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022124.6(CDH23):c.8146G>A (p.Asp2716Asn) rs748766643 0.00002
NM_022124.6(CDH23):c.8283C>T (p.Asn2761=) rs397517357 0.00002
NM_022124.6(CDH23):c.8384G>A (p.Arg2795Gln) rs776710271 0.00002
NM_022124.6(CDH23):c.8463C>T (p.Leu2821=) rs1235419354 0.00002
NM_022124.6(CDH23):c.8464G>A (p.Asp2822Asn) rs1305925095 0.00002
NM_022124.6(CDH23):c.8572G>A (p.Asp2858Asn) rs757494360 0.00002
NM_022124.6(CDH23):c.9311G>T (p.Gly3104Val) rs376432892 0.00002
NM_022124.6(CDH23):c.9430G>A (p.Ala3144Thr) rs779358121 0.00002
NM_022124.6(CDH23):c.9838G>A (p.Asp3280Asn) rs555161519 0.00002
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=) rs367684899 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys) rs746897113 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His) rs745474856 0.00002
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser) rs774309855 0.00002
NM_022168.4(IFIH1):c.2305-13A>G rs758206522 0.00002
NM_022168.4(IFIH1):c.2773A>G (p.Lys925Glu) rs1165752336 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_022168.4(IFIH1):c.413G>A (p.Cys138Tyr) rs774361518 0.00002
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter) rs373854773 0.00002
NM_022336.4(EDAR):c.*1435G>A rs1193003358 0.00002
NM_022336.4(EDAR):c.167C>G (p.Pro56Arg) rs770245989 0.00002
NM_022336.4(EDAR):c.187G>A (p.Gly63Ser) rs764223500 0.00002
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) rs770872155 0.00002
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg) rs376753256 0.00002
NM_022773.4(LMF1):c.1406C>T (p.Ala469Val) rs574656841 0.00002
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr) rs138304650 0.00002
NM_024057.4(NUP37):c.436G>A (p.Asp146Asn) rs759106967 0.00002
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys) rs758805684 0.00002
NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu) rs1233952774 0.00002
NM_024298.5(MBOAT7):c.854+8G>A rs751520193 0.00002
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112 0.00002
NM_024301.5(FKRP):c.434T>G (p.Val145Gly) rs745681948 0.00002
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159 0.00002
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624 0.00002
NM_024301.5(FKRP):c.725C>T (p.Ala242Val) rs1298321836 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) rs886043192 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686 0.00002
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327 0.00002
NM_024570.4(RNASEH2B):c.511-4A>G rs1252856173 0.00002
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala) rs371740577 0.00002
NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu) rs1462322143 0.00002
NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter) rs774043353 0.00002
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg) rs771560732 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_024596.5(MCPH1):c.*277A>C rs554279740 0.00002
NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys) rs561690042 0.00002
NM_024649.5(BBS1):c.*259C>A rs1040142241 0.00002
NM_024649.5(BBS1):c.*950C>T rs1344507018 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) rs775513593 0.00002
NM_024649.5(BBS1):c.1295G>A (p.Arg432Gln) rs138491266 0.00002
NM_024649.5(BBS1):c.1346A>T (p.His449Leu) rs777746992 0.00002
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) rs747604822 0.00002
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200 0.00002
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) rs768098877 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00002
NM_024649.5(BBS1):c.329C>A (p.Pro110His) rs750288768 0.00002
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) rs190513580 0.00002
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys) rs761601575 0.00002
NM_024649.5(BBS1):c.518+5G>A rs1428618323 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) rs754465006 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr) rs761897354 0.00002
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.1230T>G (p.His410Gln) rs1447555059 0.00002
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly) rs760904517 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys) rs765785183 0.00002
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu) rs757995171 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.4(BBS10):c.788C>T (p.Thr263Ile) rs746826888 0.00002
NM_024753.5(TTC21B):c.*1107A>G rs1200937712 0.00002
NM_024753.5(TTC21B):c.*593G>A rs886055022 0.00002
NM_024753.5(TTC21B):c.*680C>T rs746664114 0.00002
NM_024753.5(TTC21B):c.*730A>C rs886055021 0.00002
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.151+4C>T rs370743264 0.00002
NM_024753.5(TTC21B):c.1516+6G>A rs374229097 0.00002
NM_024753.5(TTC21B):c.152G>A (p.Gly51Asp) rs768073526 0.00002
NM_024753.5(TTC21B):c.1747A>G (p.Ile583Val) rs745801155 0.00002
NM_024753.5(TTC21B):c.1757T>C (p.Leu586Pro) rs757261493 0.00002
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg) rs372066887 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.1853C>T (p.Ser618Leu) rs749287796 0.00002
NM_024753.5(TTC21B):c.2170T>A (p.Ser724Thr) rs759317777 0.00002
NM_024753.5(TTC21B):c.2365A>G (p.Asn789Asp) rs774676050 0.00002
NM_024753.5(TTC21B):c.2495G>A (p.Arg832His) rs145412117 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.3102-4C>G rs750756355 0.00002
NM_024753.5(TTC21B):c.3406A>G (p.Lys1136Glu) rs371863532 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3493A>G (p.Thr1165Ala) rs762419505 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg) rs938051900 0.00002
NM_024753.5(TTC21B):c.711G>T (p.Arg237Ser) rs764523560 0.00002
NM_024753.5(TTC21B):c.764A>G (p.Tyr255Cys) rs377061787 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_024792.3(TLCD3A):c.263C>T (p.Ser88Leu) rs756022306 0.00002
NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu) rs200637575 0.00002
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn) rs758283563 0.00002
NM_024989.4(PGAP1):c.2587A>G (p.Met863Val) rs771720370 0.00002
NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp) rs771798393 0.00002
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu) rs1176534322 0.00002
NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser) rs775451018 0.00002
NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr) rs375807410 0.00002
NM_025074.7(FRAS1):c.1250C>T (p.Thr417Ile) rs1727405834 0.00002
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr) rs139162588 0.00002
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00002
NM_025074.7(FRAS1):c.384A>G (p.Gln128=) rs566690413 0.00002
NM_025074.7(FRAS1):c.4555C>T (p.Arg1519Trp) rs761970312 0.00002
NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=) rs773736914 0.00002
NM_025074.7(FRAS1):c.5516C>T (p.Ala1839Val) rs769089211 0.00002
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn) rs148042277 0.00002
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys) rs376675521 0.00002
NM_025074.7(FRAS1):c.8958+4A>G rs368613886 0.00002
NM_025074.7(FRAS1):c.9724C>T (p.Arg3242Trp) rs765238008 0.00002
NM_025103.4(IFT74):c.94T>C (p.Ser32Pro) rs201259858 0.00002
NM_025114.4(CEP290):c.1094A>C (p.Lys365Thr) rs1250515491 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro) rs767366207 0.00002
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile) rs373303674 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122 0.00002
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile) rs1000099371 0.00002
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg) rs759047003 0.00002
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val) rs932362741 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu) rs1468626083 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg) rs772550529 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His) rs774025278 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr) rs761761702 0.00002
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln) rs576877716 0.00002
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg) rs375246057 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu) rs955877363 0.00002
NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe) rs1366280320 0.00002
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly) rs1460898199 0.00002
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg) rs374752439 0.00002
NM_025114.4(CEP290):c.563A>T (p.Asp188Val) rs746511786 0.00002
NM_025114.4(CEP290):c.5814T>C (p.Thr1938=) rs752046733 0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln) rs773459272 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His) rs201801456 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn) rs796540607 0.00002
NM_025132.4(WDR19):c.*296T>G rs542204770 0.00002
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp) rs781578023 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly) rs778750936 0.00002
NM_025132.4(WDR19):c.13+14C>T rs758352852 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met) rs770339514 0.00002
NM_025132.4(WDR19):c.1982+6C>T rs745860100 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val) rs1055716143 0.00002
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser) rs1318406101 0.00002
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile) rs551049157 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) rs923164828 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln) rs1322637464 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn) rs1429836760 0.00002
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val) rs767154492 0.00002
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln) rs998142201 0.00002
NM_025132.4(WDR19):c.3565+4A>C rs771431758 0.00002
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met) rs1306554397 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025132.4(WDR19):c.738G>A (p.Met246Ile) rs756937727 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_025216.2(WNT10A):c.-285C>T rs886055636 0.00002
NM_025216.3(WNT10A):c.*15C>T rs886055645 0.00002
NM_025216.3(WNT10A):c.377-11T>C rs369995297 0.00002
NM_025216.3(WNT10A):c.660C>T (p.Phe220=) rs765046353 0.00002
NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp) rs193098360 0.00002
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile) rs753445500 0.00002
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) rs1339571276 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_031466.8(TRAPPC9):c.-249C>T rs1446002001 0.00002
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) rs142543888 0.00002
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) rs751183978 0.00002
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) rs765844365 0.00002
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) rs141640835 0.00002
NM_031471.6(FERMT3):c.386G>A (p.Arg129His) rs773077169 0.00002
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) rs900256457 0.00002
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) rs374745942 0.00002
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) rs775750630 0.00002
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00002
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) rs758680191 0.00002
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe) rs1428784861 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln) rs753398421 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.2104A>G (p.Ile702Val) rs750150867 0.00002
NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser) rs202054876 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 0.00002
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu) rs754487754 0.00002
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00002
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00002
NM_032119.4(ADGRV1):c.10362A>G (p.Thr3454=) rs1325751815 0.00002
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042 0.00002
NM_032119.4(ADGRV1):c.10820T>C (p.Val3607Ala) rs566526160 0.00002
NM_032119.4(ADGRV1):c.11954T>C (p.Ile3985Thr) rs78833918 0.00002
NM_032119.4(ADGRV1):c.12536G>A (p.Arg4179Gln) rs201743191 0.00002
NM_032119.4(ADGRV1):c.1367T>C (p.Leu456Pro) rs774659694 0.00002
NM_032119.4(ADGRV1):c.15009C>T (p.Gly5003=) rs375195936 0.00002
NM_032119.4(ADGRV1):c.16826A>T (p.Asp5609Val) rs755988055 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713 0.00002
NM_032119.4(ADGRV1):c.18479G>T (p.Cys6160Phe) rs1242164038 0.00002
NM_032119.4(ADGRV1):c.18711G>A (p.Thr6237=) rs749201239 0.00002
NM_032119.4(ADGRV1):c.2926G>A (p.Val976Ile) rs752969941 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.3969T>C (p.Ser1323=) rs1175349754 0.00002
NM_032119.4(ADGRV1):c.4952A>G (p.Asp1651Gly) rs746118976 0.00002
NM_032119.4(ADGRV1):c.6313A>G (p.Ile2105Val) rs371849392 0.00002
NM_032119.4(ADGRV1):c.6772A>G (p.Ile2258Val) rs745642201 0.00002
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr) rs997831285 0.00002
NM_032119.4(ADGRV1):c.7264C>T (p.Leu2422Phe) rs748779747 0.00002
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) rs375272281 0.00002
NM_032119.4(ADGRV1):c.8778C>T (p.Tyr2926=) rs375310575 0.00002
NM_032193.3(RNASEH2C):c.-139G>T rs928515689 0.00002
NM_032193.4(RNASEH2C):c.*1504G>A rs886048489 0.00002
NM_032193.4(RNASEH2C):c.*1778C>G rs886048485 0.00002
NM_032193.4(RNASEH2C):c.*223G>A rs886048497 0.00002
NM_032193.4(RNASEH2C):c.*940A>G rs767097041 0.00002
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys) rs1453336065 0.00002
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys) rs769127379 0.00002
NM_032193.4(RNASEH2C):c.348+6C>T rs779293116 0.00002
NM_032237.5(POMK):c.170A>G (p.Tyr57Cys) rs372826172 0.00002
NM_032237.5(POMK):c.457C>T (p.Pro153Ser) rs140899970 0.00002
NM_032237.5(POMK):c.55C>T (p.Pro19Ser) rs754284268 0.00002
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006 0.00002
NM_032237.5(POMK):c.82G>T (p.Ala28Ser) rs201506618 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_032237.5(POMK):c.908G>A (p.Arg303Gln) rs370946940 0.00002
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile) rs778975542 0.00002
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter) rs771407343 0.00002
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg) rs762857972 0.00002
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr) rs752997945 0.00002
NM_032575.3(GLIS2):c.100C>T (p.Arg34Cys) rs369113794 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1560G>A (p.Pro520=) rs759274279 0.00002
NM_032575.3(GLIS2):c.1564G>A (p.Val522Met) rs901123781 0.00002
NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu) rs775844299 0.00002
NM_032575.3(GLIS2):c.790G>A (p.Val264Ile) rs372331480 0.00002
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_032881.3(LSM10):c.112G>A (p.Val38Met) rs374549440 0.00002
NM_033028.4(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val) rs760324204 0.00002
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met) rs754792792 0.00002
NM_033028.5(BBS4):c.153C>T (p.Cys51=) rs754709708 0.00002
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg) rs758120829 0.00002
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile) rs761814377 0.00002
NM_033028.5(BBS4):c.332+5G>A rs758789705 0.00002
NM_033028.5(BBS4):c.333-3C>T rs369781535 0.00002
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala) rs775034843 0.00002
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg) rs762814533 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=) rs760796538 0.00002
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055 0.00002
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly) rs2076301014 0.00002
NM_033064.5(ATCAY):c.*1167G>A rs751398427 0.00002
NM_033064.5(ATCAY):c.*1276G>A rs974409532 0.00002
NM_033064.5(ATCAY):c.544+6dup rs749475336 0.00002
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg) rs921270646 0.00002
NM_033629.6(TREX1):c.383G>A (p.Arg128His) rs751124579 0.00002
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu) rs749667732 0.00002
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser) rs200510205 0.00002
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys) rs145721839 0.00002
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg) rs770775387 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu) rs148833270 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2302G>A (p.Val768Met) rs561825107 0.00002
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln) rs758998922 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3154-9G>A rs759975764 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) rs775568842 0.00002
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly) rs1048830398 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_130384.3(ATRIP):c.*682C>T rs886058623 0.00002
NM_133379.5(TTN):c.11179A>G (p.Ile3727Val) rs142723709 0.00002
NM_133379.5(TTN):c.12332C>T (p.Thr4111Ile) rs370317019 0.00002
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val) rs149169686 0.00002
NM_133379.5(TTN):c.14062G>A (p.Val4688Met) rs1476964512 0.00002
NM_138387.4(G6PC3):c.-155T>A rs756204705 0.00002
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr) rs746741551 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138387.4(G6PC3):c.418C>T (p.Arg140Cys) rs764229993 0.00002
NM_138387.4(G6PC3):c.431T>A (p.Val144Glu) rs561313644 0.00002
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) rs765927570 0.00002
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) rs765872526 0.00002
NM_138501.6(TECR):c.161C>G (p.Pro54Arg) rs772297819 0.00002
NM_138691.3(TMC1):c.-295A>T rs1391656977 0.00002
NM_138691.3(TMC1):c.-350C>T rs1022291966 0.00002
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00002
NM_138691.3(TMC1):c.2276G>A (p.Arg759His) rs765191961 0.00002
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg) rs781747541 0.00002
NM_138694.4(PKHD1):c.*1001A>G rs926038607 0.00002
NM_138694.4(PKHD1):c.*2580C>A rs886061595 0.00002
NM_138694.4(PKHD1):c.*3323T>C rs886061592 0.00002
NM_138694.4(PKHD1):c.-30A>G rs767584874 0.00002
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=) rs773270584 0.00002
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=) rs770308751 0.00002
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg) rs1320401077 0.00002
NM_138694.4(PKHD1):c.11539G>T (p.Ala3847Ser) rs769135174 0.00002
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile) rs773044015 0.00002
NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val) rs528907395 0.00002
NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp) rs748017071 0.00002
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met) rs1458077668 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) rs190315828 0.00002
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) rs769143280 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489 0.00002
NM_138694.4(PKHD1):c.3005C>T (p.Ser1002Phe) rs760793047 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3643A>T (p.Ser1215Cys) rs752105357 0.00002
NM_138694.4(PKHD1):c.3775G>A (p.Asp1259Asn) rs894304918 0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) rs199643308 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.6380T>G (p.Ile2127Ser) rs372932771 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro) rs200129776 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg) rs771108371 0.00002
NM_138694.4(PKHD1):c.8554+5G>C rs1402749750 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) rs748939449 0.00002
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) rs760559539 0.00002
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) rs746346952 0.00002
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) rs756816560 0.00002
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) rs766615886 0.00002
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) rs773732601 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) rs1042277527 0.00002
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) rs774273606 0.00002
NM_139343.3(BIN1):c.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.775-3C>T rs373768625 0.00002
NM_144508.5(KNL1):c.*460C>T rs540237953 0.00002
NM_144508.5(KNL1):c.1560C>T (p.Leu520=) rs765012826 0.00002
NM_144508.5(KNL1):c.1754A>G (p.Gln585Arg) rs146553005 0.00002
NM_144508.5(KNL1):c.2260A>G (p.Ile754Val) rs777932055 0.00002
NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn) rs761289014 0.00002
NM_144508.5(KNL1):c.375+11A>C rs202023529 0.00002
NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile) rs886051139 0.00002
NM_144508.5(KNL1):c.4573A>G (p.Asn1525Asp) rs199825623 0.00002
NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val) rs369488649 0.00002
NM_144508.5(KNL1):c.5769T>C (p.Asp1923=) rs200045786 0.00002
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1347+6T>G rs368072201 0.00002
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149 0.00002
NM_144596.4(TTC8):c.23T>A (p.Leu8Gln) rs1277993132 0.00002
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr) rs1000702394 0.00002
NM_144596.4(TTC8):c.325G>A (p.Val109Ile) rs150067562 0.00002
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys) rs781214218 0.00002
NM_144596.4(TTC8):c.446G>A (p.Arg149His) rs768271175 0.00002
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg) rs750521601 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.799-11C>T rs768485587 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) rs140364490 0.00002
NM_144772.3(NAXE):c.430A>C (p.Lys144Gln) rs1049284499 0.00002
NM_145309.6(LRRC51):c.99G>A (p.Glu33=) rs886048627 0.00002
NM_145861.4(EDARADD):c.*1985A>G rs774501424 0.00002
NM_145861.4(EDARADD):c.*921G>A rs886046192 0.00002
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) rs1005957166 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569 0.00002
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693 0.00002
NM_147196.3(TMIE):c.*691G>A rs569720565 0.00002
NM_147196.3(TMIE):c.-8G>T rs1198696237 0.00002
NM_147196.3(TMIE):c.192G>A (p.Ser64=) rs367618669 0.00002
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly) rs558277593 0.00002
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln) rs758313787 0.00002
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys) rs779815259 0.00002
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile) rs940695600 0.00002
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp) rs1402857650 0.00002
NM_148919.4(PSMB8):c.556G>A (p.Val186Met) rs78945358 0.00002
NM_148919.4(PSMB8):c.600G>A (p.Thr200=) rs777265725 0.00002
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile) rs746897143 0.00002
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) rs763696357 0.00002
NM_152384.3(BBS5):c.229T>A (p.Leu77Met) rs753387321 0.00002
NM_152384.3(BBS5):c.935G>A (p.Arg312His) rs751420732 0.00002
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly) rs779597637 0.00002
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp) rs374403088 0.00002
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys) rs146653515 0.00002
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln) rs776216693 0.00002
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe) rs751515113 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala) rs746565072 0.00002
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys) rs748615630 0.00002
NM_153240.5(NPHP3):c.155C>A (p.Ala52Glu) rs747055547 0.00002
NM_153240.5(NPHP3):c.1579C>T (p.Leu527Phe) rs772703797 0.00002
NM_153240.5(NPHP3):c.1714T>G (p.Ser572Ala) rs781274734 0.00002
NM_153240.5(NPHP3):c.1743+6G>A rs761386522 0.00002
NM_153240.5(NPHP3):c.2041A>G (p.Ile681Val) rs1218293876 0.00002
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln) rs765177103 0.00002
NM_153240.5(NPHP3):c.215C>T (p.Ala72Val) rs762186797 0.00002
NM_153240.5(NPHP3):c.2475+3A>G rs201981598 0.00002
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430 0.00002
NM_153240.5(NPHP3):c.2810A>G (p.Asp937Gly) rs1231984938 0.00002
NM_153240.5(NPHP3):c.284G>A (p.Arg95Lys) rs1007066273 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp) rs941727035 0.00002
NM_153240.5(NPHP3):c.308T>C (p.Val103Ala) rs764479243 0.00002
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.3212C>T (p.Ala1071Val) rs374241338 0.00002
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys) rs571618016 0.00002
NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln) rs767752387 0.00002
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu) rs1411458250 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 0.00002
NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg) rs774681590 0.00002
NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser) rs373728120 0.00002
NM_153240.5(NPHP3):c.722C>G (p.Pro241Arg) rs142933414 0.00002
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) rs769984840 0.00002
NM_153676.4(USH1C):c.1211-1106G>A rs201661386 0.00002
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655 0.00002
NM_153676.4(USH1C):c.204G>T (p.Leu68=) rs140945339 0.00002
NM_153676.4(USH1C):c.2253G>A (p.Lys751=) rs751998841 0.00002
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys) rs771504780 0.00002
NM_153676.4(USH1C):c.2381-10C>T rs765925104 0.00002
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539 0.00002
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153676.4(USH1C):c.388-8T>A rs777486804 0.00002
NM_153676.4(USH1C):c.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln) rs777321803 0.00002
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187 0.00002
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys) rs145245642 0.00002
NM_153676.4(USH1C):c.845G>A (p.Arg282His) rs779111365 0.00002
NM_153676.4(USH1C):c.875C>G (p.Ala292Gly) rs200322793 0.00002
NM_153704.6(TMEM67):c.*822G>A rs1295335321 0.00002
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) rs142280651 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln) rs754934520 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile) rs781361559 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153717.3(EVC):c.*2465C>T rs555611922 0.00002
NM_153717.3(EVC):c.*869A>G rs79612644 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2554C>G (p.His852Asp) rs574669392 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_170784.3(MKKS):c.1085A>G (p.His362Arg) rs373858682 0.00002
NM_170784.3(MKKS):c.1169G>A (p.Cys390Tyr) rs1361214616 0.00002
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496 0.00002
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu) rs772537800 0.00002
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn) rs745313480 0.00002
NM_170784.3(MKKS):c.554C>T (p.Thr185Ile) rs1321192032 0.00002
NM_170784.3(MKKS):c.871G>A (p.Val291Ile) rs910468710 0.00002
NM_173477.5(USH1G):c.*1052C>T rs536064705 0.00002
NM_173477.5(USH1G):c.*1732C>T rs886053383 0.00002
NM_173477.5(USH1G):c.*567C>G rs528602466 0.00002
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124 0.00002
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala) rs199782834 0.00002
NM_173551.5(ANKS6):c.155C>T (p.Ala52Val) rs1422061469 0.00002
NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp) rs774030867 0.00002
NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser) rs761981516 0.00002
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) rs760387934 0.00002
NM_173551.5(ANKS6):c.95G>C (p.Gly32Ala) rs1337342690 0.00002
NM_174878.3(CLRN1):c.254-2115del rs1032160668 0.00002
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) rs779258184 0.00002
NM_174878.3(CLRN1):c.66C>A (p.Leu22=) rs375543586 0.00002
NM_176824.3(BBS7):c.-19G>C rs757523715 0.00002
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781 0.00002
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln) rs372685495 0.00002
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys) rs747889031 0.00002
NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg) rs200470633 0.00002
NM_176824.3(BBS7):c.37G>A (p.Val13Met) rs753027552 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_176824.3(BBS7):c.478C>T (p.Arg160Cys) rs756538454 0.00002
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly) rs199891330 0.00002
NM_176824.3(BBS7):c.532T>A (p.Ser178Thr) rs750684046 0.00002
NM_177965.4(CFAP418):c.155+12G>A rs371521751 0.00002
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr) rs759733354 0.00002
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln) rs748807525 0.00002
NM_178170.3(NEK8):c.*526A>G rs1351907312 0.00002
NM_178170.3(NEK8):c.1177A>G (p.Ile393Val) rs371406871 0.00002
NM_178170.3(NEK8):c.1406G>A (p.Arg469His) rs762108966 0.00002
NM_178170.3(NEK8):c.1793G>A (p.Arg598His) rs771392691 0.00002
NM_178170.3(NEK8):c.666T>C (p.Pro222=) rs768482115 0.00002
NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp) rs1032719052 0.00002
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00002
NM_182548.4(LHFPL5):c.527G>A (p.Arg176His) rs774466373 0.00002
NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly) rs767421846 0.00002
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile) rs762448899 0.00002
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952 0.00002
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr) rs1489130675 0.00002
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys) rs531503159 0.00002
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp) rs766218121 0.00002
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg) rs751032216 0.00002
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys) rs371209532 0.00002
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu) rs377095831 0.00002
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser) rs757408388 0.00002
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys) rs143519691 0.00002
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly) rs771572017 0.00002
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys) rs768435800 0.00002
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg) rs771294384 0.00002
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn) rs148782440 0.00002
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp) rs745342797 0.00002
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val) rs560488372 0.00002
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn) rs201449723 0.00002
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly) rs964082904 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys) rs777182389 0.00002
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg) rs763501028 0.00002
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr) rs368709678 0.00002
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly) rs777385898 0.00002
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile) rs374596074 0.00002
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser) rs368490158 0.00002
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr) rs999907923 0.00002
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg) rs577675508 0.00002
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602 0.00002
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His) rs754495941 0.00002
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr) rs762212036 0.00002
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr) rs202149617 0.00002
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln) rs772978925 0.00002
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn) rs780677467 0.00002
NM_182961.4(SYNE1):c.15408T>C (p.His5136=) rs776024178 0.00002
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile) rs770022371 0.00002
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe) rs377227289 0.00002
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His) rs370002959 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro) rs373436725 0.00002
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124 0.00002
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe) rs767705064 0.00002
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn) rs751747080 0.00002
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg) rs201146113 0.00002
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln) rs147858920 0.00002
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro) rs753335678 0.00002
NM_182961.4(SYNE1):c.17683-11T>C rs759219567 0.00002
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys) rs558631055 0.00002
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val) rs780920250 0.00002
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys) rs980349048 0.00002
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met) rs373188583 0.00002
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile) rs138258566 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser) rs777882357 0.00002
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) rs773315032 0.00002
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro) rs773155844 0.00002
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601 0.00002
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys) rs772396355 0.00002
NM_182961.4(SYNE1):c.21351+6A>G rs760934207 0.00002
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn) rs1488536575 0.00002
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala) rs1386701721 0.00002
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615 0.00002
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196 0.00002
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys) rs755621860 0.00002
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile) rs138581943 0.00002
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln) rs1461427417 0.00002
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu) rs780201995 0.00002
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn) rs1435183530 0.00002
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp) rs373935459 0.00002
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn) rs760076679 0.00002
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr) rs886042801 0.00002
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile) rs528535664 0.00002
NM_182961.4(SYNE1):c.2394+3G>A rs368012666 0.00002
NM_182961.4(SYNE1):c.2394+4C>T rs749262350 0.00002
NM_182961.4(SYNE1):c.23978+11A>T rs754355745 0.00002
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr) rs750841362 0.00002
NM_182961.4(SYNE1):c.242G>A (p.Arg81His) rs761189574 0.00002
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427 0.00002
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val) rs773060979 0.00002
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys) rs200752692 0.00002
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala) rs754128595 0.00002
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438 0.00002
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn) rs751624606 0.00002
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp) rs201109440 0.00002
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val) rs776807564 0.00002
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr) rs927451522 0.00002
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423 0.00002
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506 0.00002
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys) rs770166877 0.00002
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr) rs770713708 0.00002
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val) rs775455354 0.00002
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762 0.00002
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs) rs774317818 0.00002
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg) rs758464869 0.00002
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val) rs1310685451 0.00002
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591 0.00002
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr) rs769726483 0.00002
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys) rs138915528 0.00002
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399 0.00002
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg) rs146300279 0.00002
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn) rs774194598 0.00002
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514 0.00002
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377 0.00002
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln) rs749115727 0.00002
NM_182961.4(SYNE1):c.5666A>C (p.Gln1889Pro) rs779600835 0.00002
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met) rs372724272 0.00002
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly) rs144732736 0.00002
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys) rs1563856215 0.00002
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn) rs1449605743 0.00002
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser) rs200432574 0.00002
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln) rs201747340 0.00002
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly) rs368938119 0.00002
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser) rs28447480 0.00002
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu) rs765343767 0.00002
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly) rs370851746 0.00002
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His) rs755821648 0.00002
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met) rs146099481 0.00002
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr) rs763152677 0.00002
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys) rs370082646 0.00002
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg) rs527670014 0.00002
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile) rs375687383 0.00002
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys) rs762448241 0.00002
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser) rs367840064 0.00002
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu) rs370644295 0.00002
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val) rs746384150 0.00002
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly) rs886044262 0.00002
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly) rs545685387 0.00002
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser) rs781096163 0.00002
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu) rs576979843 0.00002
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu) rs145819043 0.00002
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg) rs555197359 0.00002
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val) rs780460827 0.00002
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile) rs762807112 0.00002
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His) rs745707616 0.00002
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638 0.00002
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841 0.00002
NM_194248.3(OTOF):c.*898C>A rs886055871 0.00002
NM_194248.3(OTOF):c.-73G>A rs550236431 0.00002
NM_194248.3(OTOF):c.1117G>A (p.Val373Met) rs561112634 0.00002
NM_194248.3(OTOF):c.1206-10G>A rs769631334 0.00002
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444 0.00002
NM_194248.3(OTOF):c.1489G>A (p.Val497Met) rs144012583 0.00002
NM_194248.3(OTOF):c.1579+9C>T rs770761461 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.3481G>A (p.Glu1161Lys) rs758983524 0.00002
NM_194248.3(OTOF):c.4377G>T (p.Val1459=) rs374209343 0.00002
NM_194248.3(OTOF):c.4581C>T (p.Arg1527=) rs560125081 0.00002
NM_194248.3(OTOF):c.494A>T (p.Glu165Val) rs202011111 0.00002
NM_194248.3(OTOF):c.510-9C>A rs199789769 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.5702T>C (p.Phe1901Ser) rs200182894 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_194248.3(OTOF):c.654C>T (p.Pro218=) rs761399081 0.00002
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.145C>G (p.Leu49Val) rs777409972 0.00002
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00002
NM_198428.3(BBS9):c.2036G>A (p.Arg679Gln) rs768958916 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_198428.3(BBS9):c.205C>A (p.Leu69Ile) rs375757123 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00002
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp) rs1176589347 0.00002
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe) rs950624105 0.00002
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) rs904098347 0.00002
NM_198428.3(BBS9):c.433G>A (p.Gly145Ser) rs144340890 0.00002
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys) rs776941068 0.00002
NM_198428.3(BBS9):c.566G>A (p.Arg189His) rs547643751 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu) rs763122264 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201253.3(CRB1):c.2901G>T (p.Gly967=) rs773815247 0.00002
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) rs760100325 0.00002
NM_201253.3(CRB1):c.867G>A (p.Thr289=) rs147244321 0.00002
NM_201384.3(PLEC):c.10129C>T (p.Arg3377Trp) rs782682738 0.00002
NM_201384.3(PLEC):c.10172C>T (p.Ala3391Val) rs782323037 0.00002
NM_201384.3(PLEC):c.10373G>A (p.Arg3458Gln) rs200060348 0.00002
NM_201384.3(PLEC):c.10432G>A (p.Val3478Met) rs375766567 0.00002
NM_201384.3(PLEC):c.1046C>T (p.Ala349Val) rs1016236688 0.00002
NM_201384.3(PLEC):c.10474G>A (p.Gly3492Ser) rs544332992 0.00002
NM_201384.3(PLEC):c.10517G>C (p.Ser3506Thr) rs1041184401 0.00002
NM_201384.3(PLEC):c.10643A>G (p.Lys3548Arg) rs782153391 0.00002
NM_201384.3(PLEC):c.10732G>A (p.Gly3578Ser) rs782222673 0.00002
NM_201384.3(PLEC):c.10741G>A (p.Gly3581Ser) rs782459958 0.00002
NM_201384.3(PLEC):c.10831G>A (p.Gly3611Ser) rs201595670 0.00002
NM_201384.3(PLEC):c.10913C>T (p.Ala3638Val) rs534134741 0.00002
NM_201384.3(PLEC):c.10934G>A (p.Arg3645His) rs374762979 0.00002
NM_201384.3(PLEC):c.10943C>T (p.Thr3648Met) rs540702524 0.00002
NM_201384.3(PLEC):c.10945G>T (p.Ala3649Ser) rs782530906 0.00002
NM_201384.3(PLEC):c.11016C>G (p.Ser3672Arg) rs376687476 0.00002
NM_201384.3(PLEC):c.11032G>A (p.Glu3678Lys) rs782377451 0.00002
NM_201384.3(PLEC):c.11044G>A (p.Ala3682Thr) rs782569437 0.00002
NM_201384.3(PLEC):c.11152G>A (p.Glu3718Lys) rs201007788 0.00002
NM_201384.3(PLEC):c.11159C>T (p.Ala3720Val) rs782795280 0.00002
NM_201384.3(PLEC):c.11314C>T (p.Arg3772Cys) rs782737268 0.00002
NM_201384.3(PLEC):c.11428G>A (p.Val3810Met) rs781838084 0.00002
NM_201384.3(PLEC):c.11455C>A (p.Pro3819Thr) rs1479965902 0.00002
NM_201384.3(PLEC):c.11456C>T (p.Pro3819Leu) rs782481537 0.00002
NM_201384.3(PLEC):c.11493G>C (p.Lys3831Asn) rs782112014 0.00002
NM_201384.3(PLEC):c.11974C>T (p.Arg3992Cys) rs782528455 0.00002
NM_201384.3(PLEC):c.12217G>A (p.Asp4073Asn) rs781880129 0.00002
NM_201384.3(PLEC):c.12251C>T (p.Ser4084Leu) rs376783002 0.00002
NM_201384.3(PLEC):c.12341C>T (p.Thr4114Met) rs377244187 0.00002
NM_201384.3(PLEC):c.12376C>T (p.Arg4126Trp) rs782705985 0.00002
NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe) rs782074353 0.00002
NM_201384.3(PLEC):c.12439G>A (p.Glu4147Lys) rs782596567 0.00002
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn) rs782674838 0.00002
NM_201384.3(PLEC):c.12601C>T (p.Arg4201Cys) rs782591407 0.00002
NM_201384.3(PLEC):c.12663G>C (p.Gln4221His) rs782601590 0.00002
NM_201384.3(PLEC):c.12679C>T (p.Leu4227Phe) rs782010335 0.00002
NM_201384.3(PLEC):c.1270C>T (p.Arg424Trp) rs782134950 0.00002
NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser) rs782789434 0.00002
NM_201384.3(PLEC):c.12737G>A (p.Arg4246His) rs797044720 0.00002
NM_201384.3(PLEC):c.1285G>A (p.Gly429Ser) rs200066994 0.00002
NM_201384.3(PLEC):c.13000G>A (p.Asp4334Asn) rs368495183 0.00002
NM_201384.3(PLEC):c.13043G>A (p.Arg4348His) rs1361207987 0.00002
NM_201384.3(PLEC):c.13096A>G (p.Thr4366Ala) rs782537151 0.00002
NM_201384.3(PLEC):c.13255G>A (p.Ala4419Thr) rs782427593 0.00002
NM_201384.3(PLEC):c.13258C>T (p.Arg4420Cys) rs1372881986 0.00002
NM_201384.3(PLEC):c.13276C>T (p.Arg4426Cys) rs782043444 0.00002
NM_201384.3(PLEC):c.13277G>A (p.Arg4426His) rs782384228 0.00002
NM_201384.3(PLEC):c.13478C>T (p.Ser4493Leu) rs782367675 0.00002
NM_201384.3(PLEC):c.13498G>A (p.Gly4500Ser) rs567240737 0.00002
NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser) rs782419427 0.00002
NM_201384.3(PLEC):c.13552T>C (p.Ser4518Pro) rs782468755 0.00002
NM_201384.3(PLEC):c.13586G>A (p.Arg4529His) rs1486410694 0.00002
NM_201384.3(PLEC):c.13621G>A (p.Gly4541Ser) rs782218200 0.00002
NM_201384.3(PLEC):c.1486G>A (p.Val496Met) rs201553684 0.00002
NM_201384.3(PLEC):c.1540C>T (p.Arg514Cys) rs370458177 0.00002
NM_201384.3(PLEC):c.1834C>T (p.Leu612Phe) rs782249405 0.00002
NM_201384.3(PLEC):c.1970G>A (p.Ser657Asn) rs782591543 0.00002
NM_201384.3(PLEC):c.2041C>T (p.Arg681Trp) rs781892147 0.00002
NM_201384.3(PLEC):c.2093C>T (p.Ala698Val) rs1373860165 0.00002
NM_201384.3(PLEC):c.2389C>T (p.Arg797Cys) rs781813443 0.00002
NM_201384.3(PLEC):c.2479G>A (p.Glu827Lys) rs782025916 0.00002
NM_201384.3(PLEC):c.2941C>T (p.Arg981Cys) rs374604569 0.00002
NM_201384.3(PLEC):c.3022C>T (p.Arg1008Trp) rs782746904 0.00002
NM_201384.3(PLEC):c.3049C>T (p.Arg1017Trp) rs781995072 0.00002
NM_201384.3(PLEC):c.308T>C (p.Val103Ala) rs374120652 0.00002
NM_201384.3(PLEC):c.3467C>A (p.Ala1156Glu) rs782294942 0.00002
NM_201384.3(PLEC):c.3481G>A (p.Glu1161Lys) rs1298210653 0.00002
NM_201384.3(PLEC):c.3560G>A (p.Arg1187His) rs782730877 0.00002
NM_201384.3(PLEC):c.3628C>T (p.Arg1210Cys) rs782365536 0.00002
NM_201384.3(PLEC):c.3640G>A (p.Glu1214Lys) rs922709138 0.00002
NM_201384.3(PLEC):c.382G>A (p.Gly128Ser) rs1309847765 0.00002
NM_201384.3(PLEC):c.3866A>T (p.Tyr1289Phe) rs782550405 0.00002
NM_201384.3(PLEC):c.3884C>T (p.Pro1295Leu) rs782005960 0.00002
NM_201384.3(PLEC):c.4025G>A (p.Arg1342Gln) rs781815166 0.00002
NM_201384.3(PLEC):c.4103C>T (p.Ala1368Val) rs782687982 0.00002
NM_201384.3(PLEC):c.4129G>A (p.Glu1377Lys) rs782189077 0.00002
NM_201384.3(PLEC):c.4145C>T (p.Ala1382Val) rs1367834557 0.00002
NM_201384.3(PLEC):c.4207C>T (p.Arg1403Trp) rs781962382 0.00002
NM_201384.3(PLEC):c.4325C>T (p.Ala1442Val) rs782058696 0.00002
NM_201384.3(PLEC):c.4333C>T (p.Arg1445Cys) rs782018221 0.00002
NM_201384.3(PLEC):c.4339C>T (p.Arg1447Trp) rs782057352 0.00002
NM_201384.3(PLEC):c.4442G>A (p.Arg1481Gln) rs782080543 0.00002
NM_201384.3(PLEC):c.4681C>T (p.Arg1561Trp) rs782648800 0.00002
NM_201384.3(PLEC):c.4682G>A (p.Arg1561Gln) rs376840697 0.00002
NM_201384.3(PLEC):c.4697C>T (p.Ala1566Val) rs1407991375 0.00002
NM_201384.3(PLEC):c.4768G>A (p.Ala1590Thr) rs1554701000 0.00002
NM_201384.3(PLEC):c.4837C>T (p.Arg1613Trp) rs782731049 0.00002
NM_201384.3(PLEC):c.4868C>T (p.Ala1623Val) rs1327099630 0.00002
NM_201384.3(PLEC):c.4933C>T (p.Arg1645Trp) rs868962122 0.00002
NM_201384.3(PLEC):c.5063A>G (p.Glu1688Gly) rs1038571028 0.00002
NM_201384.3(PLEC):c.5180A>G (p.Gln1727Arg) rs1017507182 0.00002
NM_201384.3(PLEC):c.5413C>T (p.Arg1805Cys) rs782820715 0.00002
NM_201384.3(PLEC):c.5449C>T (p.Arg1817Trp) rs1054234042 0.00002
NM_201384.3(PLEC):c.5518G>A (p.Ala1840Thr) rs965487347 0.00002
NM_201384.3(PLEC):c.5594G>A (p.Arg1865His) rs569571032 0.00002
NM_201384.3(PLEC):c.5599C>T (p.Arg1867Trp) rs201097276 0.00002
NM_201384.3(PLEC):c.5611G>A (p.Glu1871Lys) rs782008499 0.00002
NM_201384.3(PLEC):c.5984C>T (p.Ala1995Val) rs782351441 0.00002
NM_201384.3(PLEC):c.6347G>A (p.Arg2116Gln) rs369095717 0.00002
NM_201384.3(PLEC):c.6532C>G (p.Leu2178Val) rs1261275363 0.00002
NM_201384.3(PLEC):c.6736C>T (p.Arg2246Cys) rs574445074 0.00002
NM_201384.3(PLEC):c.6755G>A (p.Arg2252His) rs534585094 0.00002
NM_201384.3(PLEC):c.6785C>T (p.Thr2262Met) rs782706731 0.00002
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys) rs371749261 0.00002
NM_201384.3(PLEC):c.6802G>A (p.Glu2268Lys) rs1431539328 0.00002
NM_201384.3(PLEC):c.6872C>T (p.Ala2291Val) rs547807861 0.00002
NM_201384.3(PLEC):c.6875G>A (p.Arg2292Gln) rs782779625 0.00002
NM_201384.3(PLEC):c.6880C>T (p.Arg2294Trp) rs1367010956 0.00002
NM_201384.3(PLEC):c.6913C>T (p.Arg2305Trp) rs781995144 0.00002
NM_201384.3(PLEC):c.7028C>T (p.Ala2343Val) rs373446919 0.00002
NM_201384.3(PLEC):c.7044G>C (p.Glu2348Asp) rs782060299 0.00002
NM_201384.3(PLEC):c.7096C>T (p.Arg2366Trp) rs782676972 0.00002
NM_201384.3(PLEC):c.7120C>T (p.Arg2374Trp) rs200153170 0.00002
NM_201384.3(PLEC):c.7151G>A (p.Arg2384His) rs201594706 0.00002
NM_201384.3(PLEC):c.718+5G>A rs369126676 0.00002
NM_201384.3(PLEC):c.7240G>A (p.Gly2414Ser) rs782229968 0.00002
NM_201384.3(PLEC):c.7345C>T (p.Arg2449Trp) rs571406033 0.00002
NM_201384.3(PLEC):c.7519C>T (p.Arg2507Cys) rs782503698 0.00002
NM_201384.3(PLEC):c.7591C>T (p.Arg2531Cys) rs781838363 0.00002
NM_201384.3(PLEC):c.7702C>T (p.Arg2568Cys) rs782300712 0.00002
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp) rs782485083 0.00002
NM_201384.3(PLEC):c.7784G>A (p.Arg2595His) rs782343962 0.00002
NM_201384.3(PLEC):c.784A>G (p.Met262Val) rs369229136 0.00002
NM_201384.3(PLEC):c.7952G>A (p.Arg2651Gln) rs375411469 0.00002
NM_201384.3(PLEC):c.8057A>G (p.Glu2686Gly) rs781866441 0.00002
NM_201384.3(PLEC):c.8092A>G (p.Ile2698Val) rs1473847985 0.00002
NM_201384.3(PLEC):c.8140G>A (p.Ala2714Thr) rs782744244 0.00002
NM_201384.3(PLEC):c.8143G>A (p.Ala2715Thr) rs781936503 0.00002
NM_201384.3(PLEC):c.825C>T (p.Asn275=) rs113133985 0.00002
NM_201384.3(PLEC):c.8320G>A (p.Val2774Ile) rs782359700 0.00002
NM_201384.3(PLEC):c.8324C>G (p.Thr2775Ser) rs782209648 0.00002
NM_201384.3(PLEC):c.8395C>T (p.Arg2799Trp) rs561686703 0.00002
NM_201384.3(PLEC):c.8434A>G (p.Thr2812Ala) rs782242650 0.00002
NM_201384.3(PLEC):c.8467C>T (p.Arg2823Cys) rs370334846 0.00002
NM_201384.3(PLEC):c.8542G>A (p.Asp2848Asn) rs781793289 0.00002
NM_201384.3(PLEC):c.8588C>T (p.Thr2863Met) rs374046943 0.00002
NM_201384.3(PLEC):c.8608C>T (p.Arg2870Cys) rs782503783 0.00002
NM_201384.3(PLEC):c.8654C>T (p.Thr2885Met) rs1258752223 0.00002
NM_201384.3(PLEC):c.8674G>A (p.Gly2892Arg) rs782213464 0.00002
NM_201384.3(PLEC):c.8743G>A (p.Gly2915Ser) rs782631758 0.00002
NM_201384.3(PLEC):c.8813G>A (p.Arg2938Gln) rs782476289 0.00002
NM_201384.3(PLEC):c.8828G>A (p.Arg2943Gln) rs782066196 0.00002
NM_201384.3(PLEC):c.8837G>A (p.Arg2946His) rs782797178 0.00002
NM_201384.3(PLEC):c.8872A>G (p.Ile2958Val) rs782699278 0.00002
NM_201384.3(PLEC):c.8918G>A (p.Cys2973Tyr) rs782206744 0.00002
NM_201384.3(PLEC):c.8953G>A (p.Glu2985Lys) rs781868366 0.00002
NM_201384.3(PLEC):c.9052C>T (p.Arg3018Trp) rs782377244 0.00002
NM_201384.3(PLEC):c.9127G>A (p.Ala3043Thr) rs201199272 0.00002
NM_201384.3(PLEC):c.9221C>T (p.Ala3074Val) rs781880018 0.00002
NM_201384.3(PLEC):c.9244G>A (p.Val3082Met) rs1180116791 0.00002
NM_201384.3(PLEC):c.9340G>A (p.Val3114Ile) rs768376288 0.00002
NM_201384.3(PLEC):c.9592C>T (p.Arg3198Trp) rs781964620 0.00002
NM_201384.3(PLEC):c.9674A>G (p.Tyr3225Cys) rs782582266 0.00002
NM_201384.3(PLEC):c.9691C>T (p.Arg3231Cys) rs781821437 0.00002
NM_201384.3(PLEC):c.9823C>T (p.Arg3275Cys) rs782733657 0.00002
NM_201384.3(PLEC):c.9824G>A (p.Arg3275His) rs782481395 0.00002
NM_201384.3(PLEC):c.9956C>T (p.Ala3319Val) rs782592296 0.00002
NM_203486.3(DLL3):c.1187C>T (p.Ala396Val) rs747708804 0.00002
NM_203486.3(DLL3):c.1455C>T (p.Pro485=) rs759560622 0.00002
NM_203486.3(DLL3):c.1474C>G (p.Leu492Val) rs767423604 0.00002
NM_203486.3(DLL3):c.902C>T (p.Pro301Leu) rs781626135 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly) rs1198689866 0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491 0.00002
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp) rs145718329 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala) rs747966256 0.00002
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=) rs752000364 0.00002
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=) rs143453173 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala) rs754979740 0.00002
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly) rs376528829 0.00002
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys) rs772357461 0.00002
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His) rs747947192 0.00002
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr) rs145531316 0.00002
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala) rs140010020 0.00002
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283 0.00002
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn) rs148605973 0.00002
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn) rs1394766722 0.00002
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) rs533024548 0.00002
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu) rs773541511 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu) rs774644535 0.00002
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del) rs766970587 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) rs267598369 0.00002
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met) rs761474352 0.00002
NM_206933.4(USH2A):c.15582C>T (p.Arg5194=) rs775780004 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr) rs192119790 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala) rs192918169 0.00002
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) rs768158580 0.00002
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser) rs533927645 0.00002
NM_206933.4(USH2A):c.3316+5G>C rs1442104013 0.00002
NM_206933.4(USH2A):c.3327C>T (p.Tyr1109=) rs758705873 0.00002
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=) rs755765979 0.00002
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile) rs774663133 0.00002
NM_206933.4(USH2A):c.4627+850C>T rs906951959 0.00002
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His) rs761306493 0.00002
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys) rs1351926905 0.00002
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys) rs370653547 0.00002
NM_206933.4(USH2A):c.6050-3T>C rs368789291 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe) rs2030530878 0.00002
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe) rs756234447 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) rs372950392 0.00002
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys) rs937606032 0.00002
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=) rs753565758 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala) rs752549947 0.00002
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg) rs770631315 0.00002
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr) rs768532694 0.00002
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg) rs374456269 0.00002
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala) rs780543913 0.00002
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala) rs759063087 0.00002
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala) rs527467361 0.00002
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln) rs760779633 0.00002
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) rs1467856164 0.00002
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp) rs749482634 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp) rs762076576 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His) rs140746096 0.00002
NM_207361.6(FREM2):c.*589G>A rs546650789 0.00002
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile) rs746265965 0.00002
NM_207361.6(FREM2):c.2473G>A (p.Val825Met) rs757937131 0.00002
NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met) rs773471950 0.00002
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro) rs777697719 0.00002
NM_207361.6(FREM2):c.5580C>T (p.Pro1860=) rs780872307 0.00002
NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg) rs568057756 0.00002
NM_207361.6(FREM2):c.6109C>A (p.Leu2037Met) rs539893834 0.00002
NM_207361.6(FREM2):c.6334G>A (p.Glu2112Lys) rs746057172 0.00002
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) rs1460573845 0.00002
NM_207361.6(FREM2):c.7800C>T (p.Thr2600=) rs116030904 0.00002
NM_207361.6(FREM2):c.8451A>C (p.Pro2817=) rs201533042 0.00002
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser) rs555402630 0.00002
NM_213599.3(ANO5):c.1211G>A (p.Arg404Gln) rs375834855 0.00002
NM_213599.3(ANO5):c.138+6C>G rs1342335241 0.00002
NM_213599.3(ANO5):c.142G>A (p.Ala48Thr) rs1156394263 0.00002
NM_213599.3(ANO5):c.170G>A (p.Arg57Gln) rs781702630 0.00002
NM_213599.3(ANO5):c.1904C>T (p.Ala635Val) rs540339861 0.00002
NM_213599.3(ANO5):c.1915T>C (p.Trp639Arg) rs973595720 0.00002
NM_213599.3(ANO5):c.1921C>T (p.Arg641Cys) rs372674175 0.00002
NM_213599.3(ANO5):c.2030-3C>A rs752534913 0.00002
NM_213599.3(ANO5):c.2414+3G>A rs199548403 0.00002
NM_213599.3(ANO5):c.2417A>G (p.Tyr806Cys) rs755040619 0.00002
NM_213599.3(ANO5):c.2438C>A (p.Pro813His) rs547523498 0.00002
NM_213599.3(ANO5):c.2503T>G (p.Phe835Val) rs374725506 0.00002
NM_213599.3(ANO5):c.2578G>C (p.Asp860His) rs145362994 0.00002
NM_213599.3(ANO5):c.2623A>C (p.Ile875Leu) rs1131691364 0.00002
NM_213599.3(ANO5):c.2711A>T (p.Asn904Ile) rs772279212 0.00002
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser) rs1010958758 0.00002
NM_213599.3(ANO5):c.746C>T (p.Ala249Val) rs1278466363 0.00002
NM_213599.3(ANO5):c.845A>G (p.Tyr282Cys) rs561417561 0.00002
NR_003051.4(RMRP):n.122A>G rs557578605 0.00002
NR_003051.4(RMRP):n.163C>T rs370797103 0.00002
NR_003051.4(RMRP):n.174C>T rs565056797 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NR_003051.4(RMRP):n.18C>T rs769169620 0.00002
NR_003051.4(RMRP):n.203C>T rs183570217 0.00002
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NM_000019.3(ACAT1):c.*291A>C rs771132416 0.00001
NM_000019.3(ACAT1):c.*591A>T rs886047604 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) rs1465674363 0.00001
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) rs772848693 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu) rs750876321 0.00001
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr) rs758930842 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys) rs757688736 0.00001
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile) rs778705529 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) rs915506786 0.00001
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) rs2077588609 0.00001
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val) rs747860630 0.00001
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser) rs562043215 0.00001
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala) rs1184689716 0.00001
NM_000023.4(SGCA):c.*12+2T>C rs1297436069 0.00001
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg) rs540254057 0.00001
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln) rs771876078 0.00001
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln) rs1270625423 0.00001
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp) rs368243053 0.00001
NM_000023.4(SGCA):c.1121G>A (p.Arg374His) rs150524482 0.00001
NM_000023.4(SGCA):c.1136A>G (p.Gln379Arg) rs930871528 0.00001
NM_000023.4(SGCA):c.1159C>T (p.His387Tyr) rs1905861368 0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met) rs770516658 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+3A>G rs1370709181 0.00001
NM_000023.4(SGCA):c.422G>A (p.Arg141His) rs1325350236 0.00001
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn) rs771485989 0.00001
NM_000023.4(SGCA):c.442G>A (p.Val148Met) rs1288174276 0.00001
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala) rs1356585975 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.506A>T (p.Glu169Val) rs376376394 0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267 0.00001
NM_000023.4(SGCA):c.592A>G (p.Ile198Val) rs375463037 0.00001
NM_000023.4(SGCA):c.649G>A (p.Asp217Asn) rs780564461 0.00001
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys) rs753784732 0.00001
NM_000023.4(SGCA):c.658G>A (p.Ala220Thr) rs958974999 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000023.4(SGCA):c.708G>C (p.Leu236Phe) rs1483510494 0.00001
NM_000023.4(SGCA):c.716A>G (p.His239Arg) rs398123099 0.00001
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys) rs753972912 0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser) rs886042858 0.00001
NM_000023.4(SGCA):c.747+3G>A rs368388538 0.00001
NM_000023.4(SGCA):c.748-3C>T rs794727834 0.00001
NM_000023.4(SGCA):c.847G>C (p.Asp283His) rs766674286 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu) rs886043256 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000023.4(SGCA):c.974C>T (p.Ala325Val) rs780200261 0.00001
NM_000057.4(BLM):c.*14A>G rs746586885 0.00001
NM_000057.4(BLM):c.-59T>A rs1438250598 0.00001
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly) rs1567037959 0.00001
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile) rs1176242752 0.00001
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala) rs776620199 0.00001
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn) rs148701303 0.00001
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu) rs375250788 0.00001
NM_000057.4(BLM):c.106A>G (p.Thr36Ala) rs1714362154 0.00001
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) rs1374291628 0.00001
NM_000057.4(BLM):c.1117A>G (p.Ile373Val) rs766212032 0.00001
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn) rs202009716 0.00001
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) rs757636363 0.00001
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp) rs770721765 0.00001
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) rs776516663 0.00001
NM_000057.4(BLM):c.1220+5C>G rs1596229075 0.00001
NM_000057.4(BLM):c.1220G>T (p.Arg407Ile) rs1350192744 0.00001
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys) rs1338335954 0.00001
NM_000057.4(BLM):c.122C>T (p.Thr41Ile) rs533736036 0.00001
NM_000057.4(BLM):c.1238A>T (p.Glu413Val) rs1215111361 0.00001
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu) rs768127491 0.00001
NM_000057.4(BLM):c.1288T>C (p.Tyr430His) rs1314473930 0.00001
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe) rs755256088 0.00001
NM_000057.4(BLM):c.1337C>A (p.Thr446Lys) rs1447973805 0.00001
NM_000057.4(BLM):c.1348A>G (p.Met450Val) rs200385935 0.00001
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) rs1237910576 0.00001
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile) rs1281556342 0.00001
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala) rs1596229797 0.00001
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile) rs761284618 0.00001
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg) rs1490929990 0.00001
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567 0.00001
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) rs1418071613 0.00001
NM_000057.4(BLM):c.1459T>C (p.Phe487Leu) rs765565919 0.00001
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) rs764182382 0.00001
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala) rs1596229967 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833 0.00001
NM_000057.4(BLM):c.1502T>A (p.Val501Glu) rs1247170438 0.00001
NM_000057.4(BLM):c.1541A>G (p.Lys514Arg) rs550463714 0.00001
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) rs1385248707 0.00001
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro) rs1318049766 0.00001
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) rs778593808 0.00001
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile) rs758161226 0.00001
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys) rs746571244 0.00001
NM_000057.4(BLM):c.1661A>T (p.Asp554Val) rs1266070433 0.00001
NM_000057.4(BLM):c.1674A>T (p.Ile558=) rs770573584 0.00001
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu) rs780794194 0.00001
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu) rs775758928 0.00001
NM_000057.4(BLM):c.1724C>T (p.Ala575Val) rs774551420 0.00001
NM_000057.4(BLM):c.1739C>G (p.Ser580Cys) rs1895974290 0.00001
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108 0.00001
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys) rs765187809 0.00001
NM_000057.4(BLM):c.1769G>C (p.Gly590Ala) rs758250947 0.00001
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp) rs777647725 0.00001
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln) rs28385012 0.00001
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser) rs1197143678 0.00001
NM_000057.4(BLM):c.1784C>T (p.Ser595Leu) rs138943954 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp) rs1207886252 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.182G>C (p.Arg61Thr) rs1060500644 0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657 0.00001
NM_000057.4(BLM):c.1841C>T (p.Ala614Val) rs1285727934 0.00001
NM_000057.4(BLM):c.1849A>T (p.Ile617Leu) rs1219301379 0.00001
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) rs146735953 0.00001
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110 0.00001
NM_000057.4(BLM):c.1954A>G (p.Thr652Ala) rs779368359 0.00001
NM_000057.4(BLM):c.1955C>G (p.Thr652Arg) rs1475280501 0.00001
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu) rs758782238 0.00001
NM_000057.4(BLM):c.2041C>T (p.Leu681Phe) rs768774375 0.00001
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp) rs1342307269 0.00001
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala) rs1262628899 0.00001
NM_000057.4(BLM):c.2075G>T (p.Gly692Val) rs1200392081 0.00001
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn) rs773097986 0.00001
NM_000057.4(BLM):c.214T>G (p.Ser72Ala) rs146521411 0.00001
NM_000057.4(BLM):c.2161G>A (p.Val721Ile) rs559554788 0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047 0.00001
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala) rs1440142847 0.00001
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu) rs756354696 0.00001
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys) rs781008303 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg) rs1474290499 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2321A>G (p.Asn774Ser) rs1245556905 0.00001
NM_000057.4(BLM):c.2326C>T (p.Leu776Phe) rs1483824560 0.00001
NM_000057.4(BLM):c.2340G>A (p.Leu780=) rs756031754 0.00001
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe) rs1430052148 0.00001
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) rs753635754 0.00001
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys) rs369065966 0.00001
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg) rs778695045 0.00001
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) rs1060500651 0.00001
NM_000057.4(BLM):c.2372G>A (p.Arg791His) rs1322472868 0.00001
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr) rs373819952 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys) rs759330541 0.00001
NM_000057.4(BLM):c.2423G>A (p.Arg808His) rs1399382807 0.00001
NM_000057.4(BLM):c.2428G>C (p.Asp810His) rs765143263 0.00001
NM_000057.4(BLM):c.2446A>G (p.Met816Val) rs751100504 0.00001
NM_000057.4(BLM):c.2447T>A (p.Met816Lys) rs1896237707 0.00001
NM_000057.4(BLM):c.2453G>A (p.Arg818His) rs780514723 0.00001
NM_000057.4(BLM):c.2456A>G (p.Gln819Arg) rs1265964518 0.00001
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465 0.00001
NM_000057.4(BLM):c.2489C>T (p.Thr830Met) rs759545027 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) rs763918749 0.00001
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) rs1209722688 0.00001
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys) rs780523899 0.00001
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu) rs767638712 0.00001
NM_000057.4(BLM):c.2555+8G>A rs1388713132 0.00001
NM_000057.4(BLM):c.2560A>G (p.Ser854Gly) rs752969832 0.00001
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622 0.00001
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) rs1461606733 0.00001
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551 0.00001
NM_000057.4(BLM):c.2656C>A (p.His886Asn) rs765636566 0.00001
NM_000057.4(BLM):c.2657A>C (p.His886Pro) rs1420145471 0.00001
NM_000057.4(BLM):c.2662T>C (p.Tyr888His) rs758696992 0.00001
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569 0.00001
NM_000057.4(BLM):c.2717A>T (p.Asp906Val) rs996189487 0.00001
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly) rs1596252149 0.00001
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507 0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151 0.00001
NM_000057.4(BLM):c.2803A>G (p.Ile935Val) rs774916971 0.00001
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540 0.00001
NM_000057.4(BLM):c.2827A>G (p.Ile943Val) rs1301812486 0.00001
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu) rs962069708 0.00001
NM_000057.4(BLM):c.2872G>A (p.Val958Met) rs775006576 0.00001
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln) rs772585415 0.00001
NM_000057.4(BLM):c.2894C>G (p.Ser965Cys) rs1567056595 0.00001
NM_000057.4(BLM):c.2915G>T (p.Gly972Val) rs150475674 0.00001
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu) rs757148522 0.00001
NM_000057.4(BLM):c.2956A>G (p.Ile986Val) rs1567056667 0.00001
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser) rs371418699 0.00001
NM_000057.4(BLM):c.2983T>C (p.Tyr995His) rs142723411 0.00001
NM_000057.4(BLM):c.2987A>G (p.His996Arg) rs1451226538 0.00001
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr) rs772671554 0.00001
NM_000057.4(BLM):c.3017T>C (p.Met1006Thr) rs1896890020 0.00001
NM_000057.4(BLM):c.3019+6C>G rs773494621 0.00001
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile) rs1244649224 0.00001
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) rs781707344 0.00001
NM_000057.4(BLM):c.3076A>G (p.Met1026Val) rs766225961 0.00001
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) rs1300299815 0.00001
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647 0.00001
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln) rs764965627 0.00001
NM_000057.4(BLM):c.3110G>A (p.Arg1037Lys) rs990520268 0.00001
NM_000057.4(BLM):c.311C>T (p.Ser104Leu) rs367543030 0.00001
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys) rs747571272 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3172C>G (p.His1058Asp) rs1351087442 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180 0.00001
NM_000057.4(BLM):c.3221C>T (p.Thr1074Ile) rs144021705 0.00001
NM_000057.4(BLM):c.3226G>A (p.Asp1076Asn) rs1306187879 0.00001
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly) rs776714693 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000057.4(BLM):c.3271C>T (p.His1091Tyr) rs766959096 0.00001
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu) rs367543017 0.00001
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys) rs912777535 0.00001
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val) rs1897079693 0.00001
NM_000057.4(BLM):c.329A>G (p.Asp110Gly) rs1292239409 0.00001
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile) rs748331529 0.00001
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala) rs1481919924 0.00001
NM_000057.4(BLM):c.3317C>G (p.Ser1106Cys) rs769834593 0.00001
NM_000057.4(BLM):c.3331A>G (p.Met1111Val) rs1169507483 0.00001
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro) rs1444338168 0.00001
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly) rs751765688 0.00001
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126 0.00001
NM_000057.4(BLM):c.343C>T (p.Pro115Ser) rs1173491187 0.00001
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr) rs1378138456 0.00001
NM_000057.4(BLM):c.344C>T (p.Pro115Leu) rs371100621 0.00001
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe) rs1469527799 0.00001
NM_000057.4(BLM):c.3454G>T (p.Asp1152Tyr) rs1156919580 0.00001
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His) rs752389778 0.00001
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser) rs1237460907 0.00001
NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser) rs751855048 0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549 0.00001
NM_000057.4(BLM):c.3509A>C (p.Tyr1170Ser) rs746692894 0.00001
NM_000057.4(BLM):c.353T>C (p.Val118Ala) rs768933887 0.00001
NM_000057.4(BLM):c.3558+3A>G rs766386042 0.00001
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile) rs547814390 0.00001
NM_000057.4(BLM):c.3568A>G (p.Met1190Val) rs764005828 0.00001
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) rs1555424373 0.00001
NM_000057.4(BLM):c.3572A>G (p.Glu1191Gly) rs1897232513 0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3636A>C (p.Glu1212Asp) rs1897234564 0.00001
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142 0.00001
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile) rs377253486 0.00001
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val) rs960821931 0.00001
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile) rs972145772 0.00001
NM_000057.4(BLM):c.3752-13T>G rs778248812 0.00001
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) rs1060500650 0.00001
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566 0.00001
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser) rs1060500645 0.00001
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025 0.00001
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr) rs757641454 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889 0.00001
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) rs750865930 0.00001
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) rs1019687102 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.394C>T (p.Arg132Trp) rs765089689 0.00001
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489 0.00001
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile) rs1222912167 0.00001
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu) rs190652985 0.00001
NM_000057.4(BLM):c.4017G>C (p.Met1339Ile) rs1247422719 0.00001
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu) rs766959130 0.00001
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro) rs1596273687 0.00001
NM_000057.4(BLM):c.4025C>T (p.Ser1342Phe) rs761200006 0.00001
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg) rs1060500646 0.00001
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) rs945181516 0.00001
NM_000057.4(BLM):c.4076+3A>G rs758564326 0.00001
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu) rs1308799871 0.00001
NM_000057.4(BLM):c.4087A>G (p.Thr1363Ala) rs1897524369 0.00001
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile) rs1060500649 0.00001
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) rs759982203 0.00001
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys) rs753011288 0.00001
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn) rs753664070 0.00001
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr) rs1555425416 0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576 0.00001
NM_000057.4(BLM):c.4144G>C (p.Ala1382Pro) rs771686396 0.00001
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) rs548600410 0.00001
NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr) rs370588118 0.00001
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu) rs770313956 0.00001
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu) rs1897533974 0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126 0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503 0.00001
NM_000057.4(BLM):c.470T>C (p.Met157Thr) rs773103759 0.00001
NM_000057.4(BLM):c.472G>A (p.Asp158Asn) rs1210664602 0.00001
NM_000057.4(BLM):c.499A>G (p.Lys167Glu) rs775285496 0.00001
NM_000057.4(BLM):c.506T>G (p.Phe169Cys) rs1013299710 0.00001
NM_000057.4(BLM):c.555A>T (p.Lys185Asn) rs766947105 0.00001
NM_000057.4(BLM):c.566G>A (p.Gly189Asp) rs754306004 0.00001
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568 0.00001
NM_000057.4(BLM):c.577T>C (p.Phe193Leu) rs779348937 0.00001
NM_000057.4(BLM):c.607A>G (p.Thr203Ala) rs1060500633 0.00001
NM_000057.4(BLM):c.632C>T (p.Pro211Leu) rs758478914 0.00001
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065 0.00001
NM_000057.4(BLM):c.641A>G (p.Glu214Gly) rs1230930956 0.00001
NM_000057.4(BLM):c.646G>A (p.Glu216Lys) rs779934502 0.00001
NM_000057.4(BLM):c.656A>G (p.Asp219Gly) rs1246909789 0.00001
NM_000057.4(BLM):c.657T>G (p.Asp219Glu) rs1447056195 0.00001
NM_000057.4(BLM):c.671A>C (p.Gln224Pro) rs770111029 0.00001
NM_000057.4(BLM):c.671A>G (p.Gln224Arg) rs770111029 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) rs878853555 0.00001
NM_000057.4(BLM):c.716A>G (p.Asp239Gly) rs751699247 0.00001
NM_000057.4(BLM):c.725C>G (p.Pro242Arg) rs1060500642 0.00001
NM_000057.4(BLM):c.727A>G (p.Ile243Val) rs201722470 0.00001
NM_000057.4(BLM):c.763A>G (p.Ser255Gly) rs1567035814 0.00001
NM_000057.4(BLM):c.790G>A (p.Asp264Asn) rs763195731 0.00001
NM_000057.4(BLM):c.803A>G (p.Asn268Ser) rs763432949 0.00001
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) rs141411463 0.00001
NM_000057.4(BLM):c.896A>G (p.Asp299Gly) rs1418306226 0.00001
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) rs753911420 0.00001
NM_000057.4(BLM):c.98+6T>G rs886051550 0.00001
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) rs1351404875 0.00001
NM_000067.2(CA2):c.-176C>T rs886063146 0.00001
NM_000067.2(CA2):c.-84_-82dup rs886063147 0.00001
NM_000067.3(CA2):c.*562T>C rs886063153 0.00001
NM_000067.3(CA2):c.-43G>C rs556311734 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.311G>T (p.Gly104Val) rs760867064 0.00001
NM_000067.3(CA2):c.339A>G (p.Lys113=) rs370128128 0.00001
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) rs758659684 0.00001
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) rs886063150 0.00001
NM_000067.3(CA2):c.87C>T (p.Ser29=) rs777914836 0.00001
NM_000070.3(CAPN3):c.*436G>A rs1285650098 0.00001
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met) rs747193982 0.00001
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg) rs746311413 0.00001
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu) rs746311413 0.00001
NM_000070.3(CAPN3):c.1062G>A (p.Val354=) rs776793553 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu) rs774834498 0.00001
NM_000070.3(CAPN3):c.1187A>G (p.Glu396Gly) rs752046508 0.00001
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr) rs367863862 0.00001
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser) rs769367343 0.00001
NM_000070.3(CAPN3):c.1255G>A (p.Asp419Asn) rs1177153235 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1328C>T (p.Ser443Phe) rs1471965884 0.00001
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His) rs767398783 0.00001
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn) rs1272589475 0.00001
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513 0.00001
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln) rs143583537 0.00001
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749 0.00001
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000070.3(CAPN3):c.1520A>G (p.Tyr507Cys) rs771068557 0.00001
NM_000070.3(CAPN3):c.1537-3C>G rs187600280 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599 0.00001
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg) rs753338235 0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=) rs766405190 0.00001
NM_000070.3(CAPN3):c.1673C>T (p.Pro558Leu) rs546820887 0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.1796C>A (p.Thr599Asn) rs768832864 0.00001
NM_000070.3(CAPN3):c.1800+6T>G rs866147687 0.00001
NM_000070.3(CAPN3):c.1802C>T (p.Pro601Leu) rs199739866 0.00001
NM_000070.3(CAPN3):c.1841A>G (p.Glu614Gly) rs111525622 0.00001
NM_000070.3(CAPN3):c.1886G>A (p.Ser629Asn) rs1352460433 0.00001
NM_000070.3(CAPN3):c.1914+10C>T rs886042479 0.00001
NM_000070.3(CAPN3):c.1915C>A (p.Pro639Thr) rs758654496 0.00001
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238 0.00001
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys) rs1314405681 0.00001
NM_000070.3(CAPN3):c.1992+3G>A rs761188919 0.00001
NM_000070.3(CAPN3):c.2051-8C>T rs754375124 0.00001
NM_000070.3(CAPN3):c.2066C>T (p.Thr689Ile) rs1278777392 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe) rs751443759 0.00001
NM_000070.3(CAPN3):c.2116-6C>G rs1287322728 0.00001
NM_000070.3(CAPN3):c.2219G>A (p.Gly740Asp) rs750162858 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=) rs755010088 0.00001
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00001
NM_000070.3(CAPN3):c.2284C>T (p.Leu762Phe) rs1269949487 0.00001
NM_000070.3(CAPN3):c.2348T>G (p.Ile783Ser) rs1309223901 0.00001
NM_000070.3(CAPN3):c.2381-19C>T rs370531419 0.00001
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg) rs766630908 0.00001
NM_000070.3(CAPN3):c.2440-3C>G rs761757153 0.00001
NM_000070.3(CAPN3):c.2465G>T (p.Ter822Leu) rs1162942997 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.309G>A (p.Pro103=) rs376146681 0.00001
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met) rs901764287 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.397G>T (p.Ala133Ser) rs946415346 0.00001
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118 0.00001
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg) rs1173872855 0.00001
NM_000070.3(CAPN3):c.433C>G (p.Leu145Val) rs886044404 0.00001
NM_000070.3(CAPN3):c.452A>C (p.His151Pro) rs766369281 0.00001
NM_000070.3(CAPN3):c.452A>G (p.His151Arg) rs766369281 0.00001
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr) rs1177741110 0.00001
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys) rs200944841 0.00001
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=) rs1401194449 0.00001
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys) rs1349313665 0.00001
NM_000070.3(CAPN3):c.538G>A (p.Asp180Asn) rs767477904 0.00001
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln) rs1375691407 0.00001
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_000070.3(CAPN3):c.614T>C (p.Leu205Pro) rs1001356986 0.00001
NM_000070.3(CAPN3):c.632+3A>G rs201660362 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000070.3(CAPN3):c.635T>C (p.Leu212Pro) rs886042100 0.00001
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr) rs747017866 0.00001
NM_000070.3(CAPN3):c.749A>G (p.Lys250Arg) rs779939785 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys) rs1368398872 0.00001
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr) rs761142449 0.00001
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala) rs761238719 0.00001
NM_000070.3(CAPN3):c.801T>C (p.Asp267=) rs1271482252 0.00001
NM_000070.3(CAPN3):c.813C>G (p.Asn271Lys) rs765292152 0.00001
NM_000070.3(CAPN3):c.847A>G (p.Met283Val) rs756786521 0.00001
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln) rs775084606 0.00001
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu) rs1192202929 0.00001
NM_000070.3(CAPN3):c.943C>T (p.Arg315Trp) rs748651267 0.00001
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile) rs1489416145 0.00001
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val) rs759881880 0.00001
NM_000070.3(CAPN3):c.958G>T (p.Val320Phe) rs1555421055 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NM_000082.4(ERCC8):c.*116T>C rs1747937844 0.00001
NM_000082.4(ERCC8):c.*602C>G rs1000325333 0.00001
NM_000082.4(ERCC8):c.*724C>G rs886060718 0.00001
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs) rs750622098 0.00001
NM_000082.4(ERCC8):c.1137del (p.Gln380fs) rs1343747301 0.00001
NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser) rs886060722 0.00001
NM_000082.4(ERCC8):c.399+3A>G rs768423381 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.551-10G>T rs758296965 0.00001
NM_000082.4(ERCC8):c.590G>A (p.Arg197His) rs763453717 0.00001
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn) rs933739444 0.00001
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1102C>A (p.Leu368Met) rs1198219818 0.00001
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg) rs376144544 0.00001
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) rs547603982 0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618 0.00001
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) rs1288398919 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557 0.00001
NM_000083.3(CLCN1):c.1414A>G (p.Ile472Val) rs767231116 0.00001
NM_000083.3(CLCN1):c.1448G>A (p.Gly483Asp) rs1336878695 0.00001
NM_000083.3(CLCN1):c.1459G>A (p.Val487Met) rs749370790 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala) rs1161052414 0.00001
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala) rs773422802 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu) rs769312894 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192 0.00001
NM_000083.3(CLCN1):c.2243T>G (p.Leu748Arg) rs768009397 0.00001
NM_000083.3(CLCN1):c.2253C>G (p.His751Gln) rs767926364 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2390T>C (p.Met797Thr) rs368445765 0.00001
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) rs1473430259 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525 0.00001
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) rs139117651 0.00001
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn) rs1803424950 0.00001
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) rs1586483209 0.00001
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) rs555680428 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.551C>T (p.Pro184Leu) rs1397098562 0.00001
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg) rs1802432204 0.00001
NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr) rs756669568 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 0.00001
NM_000083.3(CLCN1):c.632C>T (p.Ala211Val) rs761511512 0.00001
NM_000083.3(CLCN1):c.662C>T (p.Ala221Val) rs748415883 0.00001
NM_000083.3(CLCN1):c.719G>A (p.Ser240Asn) rs758767069 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala) rs756977743 0.00001
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395 0.00001
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys) rs778166354 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=) rs758586879 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val) rs920413118 0.00001
NM_000091.5(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530 0.00001
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) rs769683665 0.00001
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp) rs766420056 0.00001
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) rs769395979 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) rs759579368 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg) rs976882559 0.00001
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg) rs1260966222 0.00001
NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val) rs541108316 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys) rs1440047357 0.00001
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354 0.00001
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln) rs559719653 0.00001
NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222 0.00001
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.4766C>T (p.Pro1589Leu) rs768974023 0.00001
NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln) rs937092831 0.00001
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) rs749899964 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377 0.00001
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser) rs779795137 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000123.3(ERCC5):c.-380C>T rs1331645993 0.00001
NM_000123.4(ERCC5):c.1131T>A (p.Ala377=) rs764744058 0.00001
NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile) rs1294793811 0.00001
NM_000123.4(ERCC5):c.127C>T (p.Arg43Trp) rs750156480 0.00001
NM_000123.4(ERCC5):c.2208G>C (p.Leu736Phe) rs201744259 0.00001
NM_000123.4(ERCC5):c.2295C>T (p.Thr765=) rs201206202 0.00001
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr) rs751772171 0.00001
NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val) rs768296301 0.00001
NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=) rs886049942 0.00001
NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=) rs577633416 0.00001
NM_000123.4(ERCC5):c.3532C>T (p.Arg1178Cys) rs768302699 0.00001
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His) rs188710607 0.00001
NM_000124.4(ERCC6):c.*2662T>C rs924324836 0.00001
NM_000124.4(ERCC6):c.*3217T>G rs758928784 0.00001
NM_000124.4(ERCC6):c.*3704C>T rs1393093094 0.00001
NM_000124.4(ERCC6):c.*681G>A rs547014227 0.00001
NM_000124.4(ERCC6):c.-100A>G rs886047041 0.00001
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser) rs140135643 0.00001
NM_000124.4(ERCC6):c.1686-12G>A rs774930802 0.00001
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344 0.00001
NM_000124.4(ERCC6):c.1993-12T>C rs751115103 0.00001
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His) rs769904341 0.00001
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2598+7G>A rs769421755 0.00001
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln) rs1332662295 0.00001
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=) rs563142074 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168 0.00001
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys) rs367552064 0.00001
NM_000124.4(ERCC6):c.3962C>G (p.Ser1321Cys) rs746330518 0.00001
NM_000124.4(ERCC6):c.423-9A>C rs775274710 0.00001
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039 0.00001
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039 0.00001
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu) rs1218964618 0.00001
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.-449G>A rs1375544246 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.580-11C>T rs370016334 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000163.5(GHR):c.*2018T>C rs886060651 0.00001
NM_000163.5(GHR):c.*461T>G rs1393621798 0.00001
NM_000163.5(GHR):c.*61C>T rs1758916018 0.00001
NM_000163.5(GHR):c.*629G>A rs545231127 0.00001
NM_000163.5(GHR):c.*724G>T rs1579681863 0.00001
NM_000163.5(GHR):c.-6A>G rs371646052 0.00001
NM_000163.5(GHR):c.1002C>T (p.Pro334=) rs148387362 0.00001
NM_000163.5(GHR):c.1699A>T (p.Ile567Phe) rs373401634 0.00001
NM_000163.5(GHR):c.169C>T (p.Arg57Cys) rs200503849 0.00001
NM_000163.5(GHR):c.1745G>A (p.Gly582Glu) rs1017271370 0.00001
NM_000163.5(GHR):c.1832C>T (p.Ala611Val) rs775194712 0.00001
NM_000163.5(GHR):c.440-7T>C rs371700718 0.00001
NM_000163.5(GHR):c.68A>G (p.Glu23Gly) rs775749224 0.00001
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642 0.00001
NM_000165.5(GJA1):c.1033A>G (p.Lys345Glu) rs764494850 0.00001
NM_000165.5(GJA1):c.1108C>T (p.Arg370Cys) rs994770541 0.00001
NM_000165.5(GJA1):c.1147T>C (p.Ter383Gln) rs751144223 0.00001
NM_000165.5(GJA1):c.353C>T (p.Thr118Ile) rs1773903009 0.00001
NM_000165.5(GJA1):c.743A>G (p.His248Arg) rs747365823 0.00001
NM_000165.5(GJA1):c.748A>G (p.Thr250Ala) rs769333167 0.00001
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000165.5(GJA1):c.860A>G (p.Lys287Arg) rs555927773 0.00001
NM_000165.5(GJA1):c.896G>A (p.Arg299His) rs778457698 0.00001
NM_000165.5(GJA1):c.905A>G (p.Asn302Ser) rs746806096 0.00001
NM_000165.5(GJA1):c.962G>T (p.Gly321Val) rs1294212392 0.00001
NM_000165.5(GJA1):c.968C>T (p.Ala323Val) rs756523929 0.00001
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His) rs1372180006 0.00001
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr) rs754954638 0.00001
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp) rs545271894 0.00001
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln) rs373827556 0.00001
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val) rs1301307214 0.00001
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr) rs144565168 0.00001
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu) rs1388468307 0.00001
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile) rs202111469 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro) rs1406502907 0.00001
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro) rs1478819668 0.00001
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=) rs141346556 0.00001
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg) rs1345987699 0.00001
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser) rs537729498 0.00001
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro) rs1198818689 0.00001
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln) rs751520851 0.00001
NM_000180.4(GUCY2D):c.1566+4G>A rs1191933070 0.00001
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys) rs1168076308 0.00001
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile) rs759173115 0.00001
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly) rs1243599161 0.00001
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys) rs1975657387 0.00001
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His) rs568220391 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln) rs1380583409 0.00001
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile) rs767258249 0.00001
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp) rs757230483 0.00001
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln) rs746020263 0.00001
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu) rs139168077 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg) rs144291605 0.00001
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg) rs1237783733 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro) rs756464199 0.00001
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=) rs1975893237 0.00001
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln) rs764439180 0.00001
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His) rs368384232 0.00001
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly) rs368958527 0.00001
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu) rs1304876088 0.00001
NM_000180.4(GUCY2D):c.2412+4A>C rs951825929 0.00001
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp) rs750247123 0.00001
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn) rs1477300555 0.00001
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu) rs1264291406 0.00001
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln) rs760126408 0.00001
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys) rs377594823 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu) rs374515716 0.00001
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro) rs1214999566 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr) rs1300514080 0.00001
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val) rs1180472258 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg) rs766418901 0.00001
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr) rs768417052 0.00001
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met) rs781010216 0.00001
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr) rs1304984076 0.00001
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val) rs1567957056 0.00001
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp) rs866511152 0.00001
NM_000180.4(GUCY2D):c.3138+6G>T rs937146348 0.00001
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His) rs563091520 0.00001
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser) rs1187326101 0.00001
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly) rs1249600456 0.00001
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr) rs750743574 0.00001
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys) rs1024155105 0.00001
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys) rs1975671628 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln) rs765369504 0.00001
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val) rs780953815 0.00001
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln) rs770873775 0.00001
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn) rs181800610 0.00001
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His) rs765439946 0.00001
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys) rs1346762413 0.00001
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn) rs763099634 0.00001
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu) rs1350341897 0.00001
NM_000208.4(INSR):c.*2405A>T rs886054669 0.00001
NM_000208.4(INSR):c.*2517A>G rs886054668 0.00001
NM_000208.4(INSR):c.*442G>T rs1325974020 0.00001
NM_000208.4(INSR):c.*926_*927insG rs886054676 0.00001
NM_000208.4(INSR):c.1056G>A (p.Thr352=) rs765176874 0.00001
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.2268-3C>T rs750201666 0.00001
NM_000208.4(INSR):c.2276G>A (p.Arg759Gln) rs1460294044 0.00001
NM_000208.4(INSR):c.2380G>A (p.Glu794Lys) rs376600434 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.2543-13C>T rs1187901881 0.00001
NM_000208.4(INSR):c.3383G>A (p.Arg1128His) rs202160383 0.00001
NM_000208.4(INSR):c.3501C>T (p.Val1167=) rs373794054 0.00001
NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser) rs377701938 0.00001
NM_000208.4(INSR):c.474C>T (p.Ile158=) rs752803584 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000208.4(INSR):c.756C>T (p.Cys252=) rs769511771 0.00001
NM_000211.5(ITGB2):c.1003G>A (p.Glu335Lys) rs762699337 0.00001
NM_000211.5(ITGB2):c.100C>T (p.Arg34Trp) rs775878305 0.00001
NM_000211.5(ITGB2):c.1083T>C (p.Asn361=) rs536046546 0.00001
NM_000211.5(ITGB2):c.1126G>A (p.Asp376Asn) rs371120443 0.00001
NM_000211.5(ITGB2):c.116C>T (p.Ser39Leu) rs368899902 0.00001
NM_000211.5(ITGB2):c.1179G>C (p.Arg393Ser) rs1162085262 0.00001
NM_000211.5(ITGB2):c.1187C>T (p.Pro396Leu) rs998582323 0.00001
NM_000211.5(ITGB2):c.1195G>C (p.Asp399His) rs1381775363 0.00001
NM_000211.5(ITGB2):c.1207G>A (p.Val403Met) rs779705397 0.00001
NM_000211.5(ITGB2):c.1219G>A (p.Val407Ile) rs1342077214 0.00001
NM_000211.5(ITGB2):c.1224G>A (p.Pro408=) rs777120738 0.00001
NM_000211.5(ITGB2):c.1225-10T>A rs886057118 0.00001
NM_000211.5(ITGB2):c.1286G>A (p.Arg429Gln) rs775531955 0.00001
NM_000211.5(ITGB2):c.1342C>T (p.Arg448Trp) rs532267693 0.00001
NM_000211.5(ITGB2):c.1379A>G (p.His460Arg) rs201739251 0.00001
NM_000211.5(ITGB2):c.1410C>T (p.Cys470=) rs753427314 0.00001
NM_000211.5(ITGB2):c.1424G>A (p.Gly475Asp) rs1460164455 0.00001
NM_000211.5(ITGB2):c.1430T>C (p.Ile477Thr) rs376491409 0.00001
NM_000211.5(ITGB2):c.1435A>G (p.Lys479Glu) rs946605387 0.00001
NM_000211.5(ITGB2):c.1473G>C (p.Gln491His) rs1052256139 0.00001
NM_000211.5(ITGB2):c.1493G>A (p.Arg498Gln) rs369318947 0.00001
NM_000211.5(ITGB2):c.1571T>C (p.Val524Ala) rs764061135 0.00001
NM_000211.5(ITGB2):c.1576G>A (p.Gly526Ser) rs745512221 0.00001
NM_000211.5(ITGB2):c.1630T>C (p.Tyr544His) rs201703437 0.00001
NM_000211.5(ITGB2):c.1687C>T (p.Arg563Cys) rs777922680 0.00001
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His) rs550704811 0.00001
NM_000211.5(ITGB2):c.1757G>A (p.Arg586Gln) rs921337956 0.00001
NM_000211.5(ITGB2):c.1762G>A (p.Val588Ile) rs748258747 0.00001
NM_000211.5(ITGB2):c.1850G>A (p.Gly617Asp) rs1023125903 0.00001
NM_000211.5(ITGB2):c.1861C>G (p.Pro621Ala) rs1278051736 0.00001
NM_000211.5(ITGB2):c.187G>A (p.Asp63Asn) rs758534687 0.00001
NM_000211.5(ITGB2):c.1903G>A (p.Glu635Lys) rs758504990 0.00001
NM_000211.5(ITGB2):c.1904A>T (p.Glu635Val) rs374132330 0.00001
NM_000211.5(ITGB2):c.1934C>T (p.Ala645Val) rs371045998 0.00001
NM_000211.5(ITGB2):c.1958C>T (p.Ser653Leu) rs899349769 0.00001
NM_000211.5(ITGB2):c.2024C>T (p.Thr675Met) rs778278328 0.00001
NM_000211.5(ITGB2):c.2073G>C (p.Glu691Asp) rs879017906 0.00001
NM_000211.5(ITGB2):c.2104G>A (p.Ala702Thr) rs540038454 0.00001
NM_000211.5(ITGB2):c.2113G>A (p.Val705Ile) rs373065825 0.00001
NM_000211.5(ITGB2):c.2119G>T (p.Gly707Cys) rs1338483196 0.00001
NM_000211.5(ITGB2):c.2125G>A (p.Val709Met) rs775809970 0.00001
NM_000211.5(ITGB2):c.2132G>T (p.Gly711Val) rs771201581 0.00001
NM_000211.5(ITGB2):c.2141T>C (p.Leu714Pro) rs1261871346 0.00001
NM_000211.5(ITGB2):c.2247+10C>T rs147248229 0.00001
NM_000211.5(ITGB2):c.2247T>C (p.Asn749=) rs773262146 0.00001
NM_000211.5(ITGB2):c.235A>G (p.Met79Val) rs932194440 0.00001
NM_000211.5(ITGB2):c.253G>A (p.Ala85Thr) rs548099370 0.00001
NM_000211.5(ITGB2):c.302A>G (p.Gln101Arg) rs763707922 0.00001
NM_000211.5(ITGB2):c.328+14C>T rs780089604 0.00001
NM_000211.5(ITGB2):c.329-2dup rs758945566 0.00001
NM_000211.5(ITGB2):c.349G>A (p.Val117Met) rs777688420 0.00001
NM_000211.5(ITGB2):c.400G>A (p.Asp134Asn) rs745917556 0.00001
NM_000211.5(ITGB2):c.432G>A (p.Arg144=) rs886057119 0.00001
NM_000211.5(ITGB2):c.464G>A (p.Arg155Gln) rs778870549 0.00001
NM_000211.5(ITGB2):c.514G>A (p.Val172Met) rs2083962040 0.00001
NM_000211.5(ITGB2):c.528G>C (p.Val176=) rs200639854 0.00001
NM_000211.5(ITGB2):c.702G>A (p.Glu234=) rs747079516 0.00001
NM_000211.5(ITGB2):c.718A>G (p.Met240Val) rs1601305422 0.00001
NM_000211.5(ITGB2):c.770G>A (p.Arg257Gln) rs1482665972 0.00001
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn) rs749335770 0.00001
NM_000211.5(ITGB2):c.897C>T (p.Phe299=) rs150327269 0.00001
NM_000211.5(ITGB2):c.908C>T (p.Ser303Leu) rs758627354 0.00001
NM_000211.5(ITGB2):c.918G>C (p.Gln306His) rs541510772 0.00001
NM_000211.5(ITGB2):c.956T>C (p.Ile319Thr) rs1601299390 0.00001
NM_000211.5(ITGB2):c.993+6T>A rs1374911814 0.00001
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys) rs747549369 0.00001
NM_000231.3(SGCG):c.137T>G (p.Ile46Ser) rs1019389043 0.00001
NM_000231.3(SGCG):c.190T>C (p.Ser64Pro) rs886042587 0.00001
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala) rs771657671 0.00001
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.326A>G (p.Gln109Arg) rs201514102 0.00001
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys) rs191040430 0.00001
NM_000231.3(SGCG):c.34G>A (p.Gly12Ser) rs761027747 0.00001
NM_000231.3(SGCG):c.352T>C (p.Ser118Pro) rs766126721 0.00001
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg) rs544414698 0.00001
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp) rs767605031 0.00001
NM_000231.3(SGCG):c.505+3A>G rs1881219940 0.00001
NM_000231.3(SGCG):c.547C>T (p.Leu183Phe) rs1425113474 0.00001
NM_000231.3(SGCG):c.625G>T (p.Val209Leu) rs563129062 0.00001
NM_000231.3(SGCG):c.629A>G (p.His210Arg) rs1045567625 0.00001
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe) rs763780768 0.00001
NM_000231.3(SGCG):c.706G>A (p.Val236Met) rs201788230 0.00001
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr) rs886043151 0.00001
NM_000231.3(SGCG):c.781C>G (p.Leu261Val) rs1460327315 0.00001
NM_000231.3(SGCG):c.7C>T (p.Arg3Cys) rs140310896 0.00001
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp) rs748255972 0.00001
NM_000232.5(SGCB):c.124G>A (p.Ala42Thr) rs1363676745 0.00001
NM_000232.5(SGCB):c.140T>C (p.Ile47Thr) rs763102674 0.00001
NM_000232.5(SGCB):c.178A>G (p.Arg60Gly) rs1320144493 0.00001
NM_000232.5(SGCB):c.227C>A (p.Ala76Asp) rs562380026 0.00001
NM_000232.5(SGCB):c.244-20G>A rs534867504 0.00001
NM_000232.5(SGCB):c.244A>G (p.Ile82Val) rs143106297 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu) rs760596229 0.00001
NM_000232.5(SGCB):c.429+5G>A rs794727477 0.00001
NM_000232.5(SGCB):c.455A>G (p.Lys152Arg) rs1009256568 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.504G>A (p.Met168Ile) rs768628837 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala) rs1451834188 0.00001
NM_000232.5(SGCB):c.613A>T (p.Thr205Ser) rs202114068 0.00001
NM_000232.5(SGCB):c.622-7T>G rs745333182 0.00001
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys) rs529566743 0.00001
NM_000232.5(SGCB):c.680G>A (p.Arg227His) rs762079028 0.00001
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr) rs759966387 0.00001
NM_000232.5(SGCB):c.731G>A (p.Gly244Asp) rs570902880 0.00001
NM_000232.5(SGCB):c.736A>T (p.Asn246Tyr) rs747907287 0.00001
NM_000232.5(SGCB):c.740T>C (p.Met247Thr) rs1283480940 0.00001
NM_000232.5(SGCB):c.763A>G (p.Ile255Val) rs569029693 0.00001
NM_000232.5(SGCB):c.915G>A (p.Met305Ile) rs1408223045 0.00001
NM_000232.5(SGCB):c.940T>C (p.Cys314Arg) rs573919387 0.00001
NM_000243.3(MEFV):c.*1080A>G rs568129540 0.00001
NM_000243.3(MEFV):c.*19C>T rs761376734 0.00001
NM_000243.3(MEFV):c.*543C>T rs886051970 0.00001
NM_000243.3(MEFV):c.*690G>T rs1308863589 0.00001
NM_000243.3(MEFV):c.101A>C (p.Gln34Pro) rs1959117792 0.00001
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) rs774397209 0.00001
NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser) rs756751963 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1131C>T (p.Arg377=) rs149941578 0.00001
NM_000243.3(MEFV):c.1211A>G (p.His404Arg) rs755659290 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys) rs758485822 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys) rs104895104 0.00001
NM_000243.3(MEFV):c.1450C>A (p.Leu484Met) rs760827469 0.00001
NM_000243.3(MEFV):c.1455G>A (p.Glu485=) rs958054431 0.00001
NM_000243.3(MEFV):c.1485G>A (p.Arg495=) rs1012455878 0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) rs769888172 0.00001
NM_000243.3(MEFV):c.1577A>G (p.Glu526Gly) rs772349671 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr) rs952604863 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) rs780770024 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr) rs1958893897 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr) rs1439074921 0.00001
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu) rs1432156641 0.00001
NM_000243.3(MEFV):c.2045dup (p.Ser683fs) rs1242998026 0.00001
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu) rs534682649 0.00001
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg) rs566082564 0.00001
NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu) rs1487302096 0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu) rs876661026 0.00001
NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly) rs748264438 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs) rs753946287 0.00001
NM_000243.3(MEFV):c.2336G>T (p.Gly779Val) rs1459541096 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) rs145015653 0.00001
NM_000243.3(MEFV):c.301A>G (p.Thr101Ala) rs1342717419 0.00001
NM_000243.3(MEFV):c.30G>A (p.Leu10=) rs553819712 0.00001
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) rs756029520 0.00001
NM_000243.3(MEFV):c.32C>G (p.Ser11Cys) rs149693562 0.00001
NM_000243.3(MEFV):c.377G>T (p.Gly126Val) rs1390689550 0.00001
NM_000243.3(MEFV):c.401C>T (p.Pro134Leu) rs377250147 0.00001
NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn) rs145078602 0.00001
NM_000243.3(MEFV):c.405C>T (p.Tyr135=) rs766323718 0.00001
NM_000243.3(MEFV):c.411C>T (p.Gly137=) rs1266277814 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=) rs1465332482 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg) rs1959088372 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro) rs104895211 0.00001
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) rs777199024 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) rs104895125 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.552C>T (p.Gly184=) rs1488496414 0.00001
NM_000243.3(MEFV):c.553G>A (p.Gly185Arg) rs1266566289 0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val) rs923516953 0.00001
NM_000243.3(MEFV):c.575G>C (p.Arg192Thr) rs1390723147 0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) rs765450054 0.00001
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) rs1959084389 0.00001
NM_000243.3(MEFV):c.651G>C (p.Ala217=) rs886051971 0.00001
NM_000243.3(MEFV):c.66G>A (p.Glu22=) rs569040282 0.00001
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp) rs104895181 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg) rs754679070 0.00001
NM_000243.3(MEFV):c.704C>T (p.Ser235Leu) rs757793348 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) rs753623518 0.00001
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp) rs775020273 0.00001
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) rs1437746739 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.922G>T (p.Asp308Tyr) rs368322244 0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) rs757216434 0.00001
NM_000243.3(MEFV):c.995G>A (p.Cys332Tyr) rs1379609898 0.00001
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.1786T>A (p.Phe596Ile) rs879254332 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.230A>C (p.Asp77Ala) rs761221409 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2440C>A (p.Pro814Thr) rs1052270861 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2698C>G (p.Leu900Val) rs1398243931 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile) rs758440368 0.00001
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn) rs367634278 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000253.4(MTTP):c.-205G>A rs886058953 0.00001
NM_000254.3(MTR):c.1074T>C (p.Ser358=) rs1430063160 0.00001
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) rs757720946 0.00001
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) rs151031178 0.00001
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) rs767156705 0.00001
NM_000254.3(MTR):c.1954-6A>G rs1553321372 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) rs931972359 0.00001
NM_000254.3(MTR):c.2304+4A>G rs778478523 0.00001
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) rs758778075 0.00001
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) rs147387989 0.00001
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) rs745749921 0.00001
NM_000254.3(MTR):c.2594+3A>G rs757969059 0.00001
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) rs149165917 0.00001
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) rs1416094227 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) rs772400119 0.00001
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) rs755595867 0.00001
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) rs1474412109 0.00001
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) rs756706737 0.00001
NM_000254.3(MTR):c.3205-196A>G rs544410324 0.00001
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) rs746836137 0.00001
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) rs764803333 0.00001
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) rs759436870 0.00001
NM_000254.3(MTR):c.340-3T>C rs772591750 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) rs1188027807 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) rs1414249194 0.00001
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) rs761657622 0.00001
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) rs779312137 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.586A>G (p.Ile196Val) rs776426879 0.00001
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) rs934470002 0.00001
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) rs758776466 0.00001
NM_000260.4(MYO7A):c.*201T>C rs942399987 0.00001
NM_000260.4(MYO7A):c.*315C>G rs924986929 0.00001
NM_000260.4(MYO7A):c.*440G>A rs779826272 0.00001
NM_000260.4(MYO7A):c.*75C>T rs1958052155 0.00001
NM_000260.4(MYO7A):c.-196C>T rs886048666 0.00001
NM_000260.4(MYO7A):c.-46-2A>G rs370329263 0.00001
NM_000260.4(MYO7A):c.-52C>G rs1950674289 0.00001
NM_000260.4(MYO7A):c.1058C>T (p.Ala353Val) rs557302067 0.00001
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=) rs573947142 0.00001
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282 0.00001
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) rs1162724549 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr) rs782255256 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=) rs746423219 0.00001
NM_000260.4(MYO7A):c.1612T>C (p.Tyr538His) rs1277502960 0.00001
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) rs782450807 0.00001
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) rs1282033456 0.00001
NM_000260.4(MYO7A):c.1690+3A>G rs1555070313 0.00001
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=) rs782763913 0.00001
NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr) rs1007494594 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) rs1308203959 0.00001
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met) rs781885773 0.00001
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) rs782485961 0.00001
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658 0.00001
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=) rs782519043 0.00001
NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly) rs1555079121 0.00001
NM_000260.4(MYO7A):c.2095-4C>G rs763060756 0.00001
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.2225A>T (p.Lys742Ile) rs782417254 0.00001
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733 0.00001
NM_000260.4(MYO7A):c.2335C>T (p.Arg779Trp) rs919516884 0.00001
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=) rs782077299 0.00001
NM_000260.4(MYO7A):c.2362G>A (p.Gly788Arg) rs1174297656 0.00001
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 0.00001
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) rs561347333 0.00001
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro) rs782585520 0.00001
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys) rs781926175 0.00001
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val) rs374547580 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys) rs782474674 0.00001
NM_000260.4(MYO7A):c.2487G>A (p.Val829=) rs1452906057 0.00001
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) rs781869469 0.00001
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=) rs782594184 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp) rs781860354 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=) rs1198020087 0.00001
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) rs782189807 0.00001
NM_000260.4(MYO7A):c.2819C>T (p.Ser940Leu) rs1955180601 0.00001
NM_000260.4(MYO7A):c.293C>T (p.Thr98Met) rs1434564086 0.00001
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala) rs878853237 0.00001
NM_000260.4(MYO7A):c.3056G>A (p.Arg1019Gln) rs782204607 0.00001
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=) rs782192026 0.00001
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) rs377393431 0.00001
NM_000260.4(MYO7A):c.3276C>T (p.Gly1092=) rs782130985 0.00001
NM_000260.4(MYO7A):c.3285+3G>A rs1186153232 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913 0.00001
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421 0.00001
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser) rs1555087199 0.00001
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517 0.00001
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp) rs534291510 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn) rs1955862943 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3616G>A (p.Glu1206Lys) rs201729482 0.00001
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) rs762101560 0.00001
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) rs372642675 0.00001
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) rs755771068 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033 0.00001
NM_000260.4(MYO7A):c.3750+4C>T rs764701863 0.00001
NM_000260.4(MYO7A):c.37G>C (p.Asp13His) rs1555051432 0.00001
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) rs771896529 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr) rs1455741859 0.00001
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) rs375066152 0.00001
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=) rs751639889 0.00001
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) rs753630781 0.00001
NM_000260.4(MYO7A):c.4153-10C>G rs397516306 0.00001
NM_000260.4(MYO7A):c.4153-11C>T rs727503330 0.00001
NM_000260.4(MYO7A):c.4243A>G (p.Thr1415Ala) rs761755624 0.00001
NM_000260.4(MYO7A):c.4259G>A (p.Arg1420His) rs568337942 0.00001
NM_000260.4(MYO7A):c.4261G>A (p.Glu1421Lys) rs371268030 0.00001
NM_000260.4(MYO7A):c.4285G>A (p.Glu1429Lys) rs374171831 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_000260.4(MYO7A):c.4445C>T (p.Pro1482Leu) rs1264130915 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=) rs767236447 0.00001
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val) rs756854177 0.00001
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser) rs746774239 0.00001
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) rs747155741 0.00001
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala) rs369056903 0.00001
NM_000260.4(MYO7A):c.5011C>A (p.Pro1671Thr) rs750926300 0.00001
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser) rs535102352 0.00001
NM_000260.4(MYO7A):c.5102G>A (p.Arg1701Gln) rs544043266 0.00001
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys) rs529974676 0.00001
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) rs1241956038 0.00001
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met) rs751716334 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln) rs1187644045 0.00001
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln) rs778250602 0.00001
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) rs757984734 0.00001
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) rs746296177 0.00001
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) rs773557376 0.00001
NM_000260.4(MYO7A):c.5378A>G (p.Asn1793Ser) rs745704600 0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319 0.00001
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542 0.00001
NM_000260.4(MYO7A):c.5566C>T (p.Arg1856Cys) rs748052241 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met) rs958153438 0.00001
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001 0.00001
NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg) rs774755172 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) rs886048682 0.00001
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) rs767931313 0.00001
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080 0.00001
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918 0.00001
NM_000260.4(MYO7A):c.5945-9G>A rs1233077552 0.00001
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu) rs377517717 0.00001
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg) rs560293591 0.00001
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met) rs532542968 0.00001
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484 0.00001
NM_000260.4(MYO7A):c.6052-3C>T rs368782885 0.00001
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met) rs768874284 0.00001
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) rs1381141633 0.00001
NM_000260.4(MYO7A):c.6122T>C (p.Ile2041Thr) rs1289796183 0.00001
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn) rs1336095094 0.00001
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) rs779090765 0.00001
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) rs1555062954 0.00001
NM_000260.4(MYO7A):c.6392T>C (p.Ile2131Thr) rs1214326316 0.00001
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=) rs547153698 0.00001
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=) rs778498696 0.00001
NM_000260.4(MYO7A):c.64G>T (p.Val22Leu) rs376701580 0.00001
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile) rs376900309 0.00001
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) rs779431269 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000260.4(MYO7A):c.741G>A (p.Leu247=) rs1555063817 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln) rs535205981 0.00001
NM_000260.4(MYO7A):c.910G>A (p.Ala304Thr) rs782124327 0.00001
NM_000271.5(NPC1):c.*718C>T rs1227797863 0.00001
NM_000271.5(NPC1):c.-29C>G rs762126552 0.00001
NM_000271.5(NPC1):c.1007G>A (p.Arg336Lys) rs2058955195 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met) rs764364312 0.00001
NM_000271.5(NPC1):c.1257T>G (p.Ile419Met) rs1452719623 0.00001
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920 0.00001
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly) rs1555636685 0.00001
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu) rs201226297 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1499G>A (p.Gly500Glu) rs748246747 0.00001
NM_000271.5(NPC1):c.1649A>G (p.Tyr550Cys) rs758823922 0.00001
NM_000271.5(NPC1):c.1723G>C (p.Glu575Gln) rs767236379 0.00001
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe) rs751586141 0.00001
NM_000271.5(NPC1):c.1793A>G (p.Asn598Ser) rs201236716 0.00001
NM_000271.5(NPC1):c.1801A>G (p.Ile601Val) rs1443429857 0.00001
NM_000271.5(NPC1):c.1947+4A>G rs577147812 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1976C>T (p.Ala659Val) rs140786703 0.00001
NM_000271.5(NPC1):c.204T>G (p.Phe68Leu) rs778177842 0.00001
NM_000271.5(NPC1):c.2083C>G (p.Leu695Val) rs370323921 0.00001
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser) rs200291759 0.00001
NM_000271.5(NPC1):c.2131-1del rs1567954054 0.00001
NM_000271.5(NPC1):c.2140C>T (p.Arg714Cys) rs770762664 0.00001
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795 0.00001
NM_000271.5(NPC1):c.2369A>G (p.Gln790Arg) rs761014306 0.00001
NM_000271.5(NPC1):c.2373+14A>G rs771523995 0.00001
NM_000271.5(NPC1):c.2510T>C (p.Ile837Thr) rs758474760 0.00001
NM_000271.5(NPC1):c.2514+7G>A rs764548800 0.00001
NM_000271.5(NPC1):c.2521A>G (p.Ile841Val) rs757285562 0.00001
NM_000271.5(NPC1):c.2533G>T (p.Val845Phe) rs562253150 0.00001
NM_000271.5(NPC1):c.255C>G (p.Asp85Glu) rs2059212616 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 0.00001
NM_000271.5(NPC1):c.2635A>G (p.Ile879Val) rs904277386 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.28C>T (p.Leu10Phe) rs1272422974 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr) rs146666146 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 0.00001
NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met) rs776593644 0.00001
NM_000271.5(NPC1):c.3178C>T (p.Leu1060Phe) rs1285316145 0.00001
NM_000271.5(NPC1):c.3196A>G (p.Thr1066Ala) rs747903100 0.00001
NM_000271.5(NPC1):c.3197C>A (p.Thr1066Asn) rs772622214 0.00001
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066 0.00001
NM_000271.5(NPC1):c.3325A>G (p.Ile1109Val) rs368642053 0.00001
NM_000271.5(NPC1):c.3328T>C (p.Phe1110Leu) rs753725948 0.00001
NM_000271.5(NPC1):c.3391A>G (p.Ile1131Val) rs1462436957 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000271.5(NPC1):c.3577C>T (p.His1193Tyr) rs375309094 0.00001
NM_000271.5(NPC1):c.3620T>C (p.Phe1207Ser) rs764991360 0.00001
NM_000271.5(NPC1):c.3630T>G (p.Ile1210Met) rs1178040336 0.00001
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val) rs1161321094 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604 0.00001
NM_000271.5(NPC1):c.3763G>A (p.Val1255Ile) rs755597503 0.00001
NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys) rs200264267 0.00001
NM_000271.5(NPC1):c.3820C>T (p.Arg1274Trp) rs544089597 0.00001
NM_000271.5(NPC1):c.3830A>G (p.Asn1277Ser) rs745328444 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu) rs887908568 0.00001
NM_000271.5(NPC1):c.515C>T (p.Ala172Val) rs753654470 0.00001
NM_000271.5(NPC1):c.586A>G (p.Lys196Glu) rs754653682 0.00001
NM_000271.5(NPC1):c.615C>T (p.Ile205=) rs767452406 0.00001
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr) rs536360132 0.00001
NM_000271.5(NPC1):c.763C>T (p.Pro255Ser) rs373815982 0.00001
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys) rs1232191827 0.00001
NM_000271.5(NPC1):c.881+6C>T rs1180731498 0.00001
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln) rs774386583 0.00001
NM_000271.5(NPC1):c.97A>T (p.Ile33Phe) rs1244447626 0.00001
NM_000277.3(PAH):c.*42A>G rs1238562736 0.00001
NM_000277.3(PAH):c.1066-9G>A rs750730715 0.00001
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672 0.00001
NM_000277.3(PAH):c.198A>G (p.Glu66=) rs117308669 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677 0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040 0.00001
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291 0.00001
NM_000277.3(PAH):c.441+4A>G rs62508586 0.00001
NM_000277.3(PAH):c.441T>C (p.Pro147=) rs1386014129 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr) rs1210056131 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.59A>T (p.Gln20Leu) rs199475662 0.00001
NM_000277.3(PAH):c.63A>C (p.Glu21Asp) rs753466976 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.793T>C (p.Cys265Arg) rs62517181 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.970-10T>C rs1485782102 0.00001
NM_000277.3(PAH):c.970A>G (p.Ile324Val) rs1221031352 0.00001
NM_000281.4(PCBD1):c.*107C>T rs1846535672 0.00001
NM_000281.4(PCBD1):c.*116C>T rs544135564 0.00001
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro) rs768330993 0.00001
NM_000281.4(PCBD1):c.294A>G (p.Gln98=) rs773744136 0.00001
NM_000286.3(PEX12):c.*109A>G rs996017117 0.00001
NM_000286.3(PEX12):c.*335T>C rs886052830 0.00001
NM_000286.3(PEX12):c.*411A>C rs2072778672 0.00001
NM_000286.3(PEX12):c.*532A>G rs886052826 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe) rs772028045 0.00001
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile) rs2072781156 0.00001
NM_000286.3(PEX12):c.126+6G>A rs1342667188 0.00001
NM_000286.3(PEX12):c.174G>T (p.Trp58Cys) rs1167729519 0.00001
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys) rs1412916235 0.00001
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg) rs773576922 0.00001
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala) rs1195136213 0.00001
NM_000286.3(PEX12):c.295A>G (p.Lys99Glu) rs1003905752 0.00001
NM_000286.3(PEX12):c.301C>G (p.Gln101Glu) rs1316034375 0.00001
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg) rs371014792 0.00001
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn) rs1260902616 0.00001
NM_000286.3(PEX12):c.431C>T (p.Ser144Phe) rs988442642 0.00001
NM_000286.3(PEX12):c.435T>G (p.Ile145Met) rs956055423 0.00001
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser) rs1324878121 0.00001
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln) rs745420734 0.00001
NM_000286.3(PEX12):c.53C>T (p.Pro18Leu) rs750863211 0.00001
NM_000286.3(PEX12):c.551G>A (p.Gly184Glu) rs1241662407 0.00001
NM_000286.3(PEX12):c.55T>C (p.Ser19Pro) rs756812775 0.00001
NM_000286.3(PEX12):c.601G>T (p.Gly201Cys) rs767608984 0.00001
NM_000286.3(PEX12):c.616C>A (p.Gln206Lys) rs786205502 0.00001
NM_000286.3(PEX12):c.628G>T (p.Ala210Ser) rs763285439 0.00001
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg) rs984673169 0.00001
NM_000286.3(PEX12):c.734T>C (p.Leu245Ser) rs1364396743 0.00001
NM_000286.3(PEX12):c.73G>C (p.Ala25Pro) rs762591605 0.00001
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047 0.00001
NM_000286.3(PEX12):c.830C>T (p.Thr277Ile) rs1398163895 0.00001
NM_000286.3(PEX12):c.847C>T (p.Pro283Ser) rs753527027 0.00001
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000286.3(PEX12):c.899T>C (p.Met300Thr) rs776806092 0.00001
NM_000286.3(PEX12):c.8A>G (p.Glu3Gly) rs769571282 0.00001
NM_000286.3(PEX12):c.913C>G (p.Pro305Ala) rs1444133628 0.00001
NM_000286.3(PEX12):c.940G>C (p.Asp314His) rs1366482320 0.00001
NM_000286.3(PEX12):c.946G>C (p.Val316Leu) rs750097322 0.00001
NM_000286.3(PEX12):c.997G>T (p.Val333Leu) rs762912502 0.00001
NM_000287.3(PEX6):c.-71C>G rs886061414 0.00001
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp) rs977542433 0.00001
NM_000287.4(PEX6):c.1033T>A (p.Phe345Ile) rs1770222482 0.00001
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr) rs571650965 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1145T>C (p.Phe382Ser) rs762401493 0.00001
NM_000287.4(PEX6):c.1233+3G>A rs955591362 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1267C>G (p.Pro423Ala) rs774044599 0.00001
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys) rs1457151665 0.00001
NM_000287.4(PEX6):c.1294A>C (p.Ser432Arg) rs775373588 0.00001
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro) rs778025463 0.00001
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.1367+10G>A rs776610051 0.00001
NM_000287.4(PEX6):c.140C>T (p.Pro47Leu) rs1299683224 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1453A>G (p.Ser485Gly) rs1211744219 0.00001
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg) rs762174122 0.00001
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn) rs770340288 0.00001
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys) rs530370123 0.00001
NM_000287.4(PEX6):c.157C>G (p.Leu53Val) rs1254816567 0.00001
NM_000287.4(PEX6):c.1591G>A (p.Val531Met) rs1769924968 0.00001
NM_000287.4(PEX6):c.1639G>T (p.Val547Leu) rs757202336 0.00001
NM_000287.4(PEX6):c.1654C>T (p.Arg552Cys) rs765678624 0.00001
NM_000287.4(PEX6):c.1688+3A>G rs111397663 0.00001
NM_000287.4(PEX6):c.1688G>A (p.Ser563Asn) rs768025730 0.00001
NM_000287.4(PEX6):c.1747G>A (p.Val583Met) rs750996699 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln) rs780239941 0.00001
NM_000287.4(PEX6):c.1834C>T (p.Leu612Phe) rs750758458 0.00001
NM_000287.4(PEX6):c.1884A>G (p.Ala628=) rs779124738 0.00001
NM_000287.4(PEX6):c.1885G>C (p.Gly629Arg) rs753408034 0.00001
NM_000287.4(PEX6):c.188G>A (p.Gly63Asp) rs1770439751 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1943C>T (p.Thr648Ile) rs1439667922 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.1961+4A>C rs748621080 0.00001
NM_000287.4(PEX6):c.2011G>A (p.Gly671Ser) rs776805570 0.00001
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2094+6G>A rs1009420665 0.00001
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe) rs1390565278 0.00001
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn) rs371619603 0.00001
NM_000287.4(PEX6):c.2157G>C (p.Glu719Asp) rs1385321266 0.00001
NM_000287.4(PEX6):c.2177A>C (p.Glu726Ala) rs1250862310 0.00001
NM_000287.4(PEX6):c.2204T>C (p.Leu735Pro) rs920798728 0.00001
NM_000287.4(PEX6):c.2209C>T (p.Arg737Cys) rs148562506 0.00001
NM_000287.4(PEX6):c.2228A>G (p.His743Arg) rs1313804105 0.00001
NM_000287.4(PEX6):c.2243C>T (p.Thr748Ile) rs1769802405 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000287.4(PEX6):c.2353G>A (p.Val785Met) rs747065131 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln) rs757780839 0.00001
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly) rs759682469 0.00001
NM_000287.4(PEX6):c.2547C>T (p.Asn849=) rs1171568759 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val) rs183208634 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2641C>T (p.Arg881Cys) rs756846188 0.00001
NM_000287.4(PEX6):c.2667-4A>G rs1561819184 0.00001
NM_000287.4(PEX6):c.2681C>T (p.Pro894Leu) rs1040199114 0.00001
NM_000287.4(PEX6):c.2693T>C (p.Leu898Pro) rs1769689393 0.00001
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met) rs762089817 0.00001
NM_000287.4(PEX6):c.2805A>G (p.Glu935=) rs918460295 0.00001
NM_000287.4(PEX6):c.2870G>A (p.Arg957Gln) rs370201505 0.00001
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179 0.00001
NM_000287.4(PEX6):c.2878C>T (p.Pro960Ser) rs1769644652 0.00001
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala) rs1361796630 0.00001
NM_000287.4(PEX6):c.2915G>A (p.Arg972His) rs751058292 0.00001
NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys) rs575358435 0.00001
NM_000287.4(PEX6):c.340C>T (p.Pro114Ser) rs1561831093 0.00001
NM_000287.4(PEX6):c.358G>A (p.Val120Ile) rs918929371 0.00001
NM_000287.4(PEX6):c.400C>G (p.Pro134Ala) rs760985292 0.00001
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422 0.00001
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln) rs1254025750 0.00001
NM_000287.4(PEX6):c.460C>G (p.Arg154Gly) rs746681634 0.00001
NM_000287.4(PEX6):c.478C>T (p.Leu160Phe) rs1336576924 0.00001
NM_000287.4(PEX6):c.484G>T (p.Gly162Trp) rs1359274674 0.00001
NM_000287.4(PEX6):c.496C>G (p.Leu166Val) rs1770417803 0.00001
NM_000287.4(PEX6):c.533C>G (p.Pro178Arg) rs1303061971 0.00001
NM_000287.4(PEX6):c.625C>T (p.Arg209Trp) rs749292690 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn) rs1259137255 0.00001
NM_000287.4(PEX6):c.773G>C (p.Gly258Ala) rs1030087734 0.00001
NM_000287.4(PEX6):c.901A>G (p.Ile301Val) rs578234477 0.00001
NM_000287.4(PEX6):c.928T>G (p.Ser310Ala) rs1770228334 0.00001
NM_000287.4(PEX6):c.946C>G (p.Pro316Ala) rs1200072500 0.00001
NM_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.130+6G>C rs1299374519 0.00001
NM_000288.4(PEX7):c.167C>G (p.Ala56Gly) rs765902458 0.00001
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala) rs1774097181 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser) rs1391235393 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile) rs1181412133 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.442C>G (p.Leu148Val) rs752606372 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.525A>G (p.Ser175=) rs771080595 0.00001
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr) rs368435862 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.782G>A (p.Cys261Tyr) rs770301248 0.00001
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.903+6G>A rs758226348 0.00001
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser) rs746310299 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000302.4(PLOD1):c.-58G>A rs552712043 0.00001
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp) rs1195535094 0.00001
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp) rs775007891 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr) rs367592901 0.00001
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys) rs538407894 0.00001
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys) rs373520363 0.00001
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys) rs764179880 0.00001
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp) rs1428519006 0.00001
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln) rs767839550 0.00001
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro) rs1434675020 0.00001
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile) rs773517731 0.00001
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp) rs1204551467 0.00001
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser) rs758780380 0.00001
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile) rs780133138 0.00001
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg) rs555034048 0.00001
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe) rs1374717198 0.00001
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His) rs773170096 0.00001
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr) rs746905101 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val) rs376017234 0.00001
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp) rs769499769 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 0.00001
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885 0.00001
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) rs1487304416 0.00001
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln) rs755654001 0.00001
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys) rs748841458 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter) rs373094220 0.00001
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val) rs1415378080 0.00001
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met) rs780253192 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser) rs886039207 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln) rs781455578 0.00001
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser) rs768422539 0.00001
NM_000302.4(PLOD1):c.466+3G>A rs779840832 0.00001
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser) rs750416079 0.00001
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys) rs534314930 0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala) rs376643174 0.00001
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg) rs1438879558 0.00001
NM_000302.4(PLOD1):c.741+4G>C rs763641520 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp) rs558752942 0.00001
NM_000302.4(PLOD1):c.824G>A (p.Arg275His) rs184999645 0.00001
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile) rs776894307 0.00001
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser) rs748920493 0.00001
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met) rs777957649 0.00001
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser) rs776772692 0.00001
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu) rs532145123 0.00001
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln) rs960778465 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000317.3(PTS):c.*213A>G rs916945270 0.00001
NM_000317.3(PTS):c.106A>G (p.Asn36Asp) rs1374807422 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.211A>G (p.Met71Val) rs1296871450 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.228C>T (p.Leu76=) rs772713545 0.00001
NM_000317.3(PTS):c.22C>T (p.Arg8Cys) rs1859865574 0.00001
NM_000317.3(PTS):c.289G>A (p.Val97Met) rs750455879 0.00001
NM_000317.3(PTS):c.292C>T (p.Pro98Ser) rs1859964687 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.360A>T (p.Lys120Asn) rs1859970916 0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys) rs104894274 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000318.3(PEX2):c.*1581T>A rs1214852177 0.00001
NM_000318.3(PEX2):c.*2456C>T rs1461205423 0.00001
NM_000318.3(PEX2):c.*2787G>A rs886063123 0.00001
NM_000318.3(PEX2):c.*324G>T rs886063137 0.00001
NM_000318.3(PEX2):c.*498G>A rs541772029 0.00001
NM_000318.3(PEX2):c.*773T>G rs927177664 0.00001
NM_000318.3(PEX2):c.*91A>G rs886063139 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.-178C>T rs886063141 0.00001
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala) rs935435870 0.00001
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897 0.00001
NM_000318.3(PEX2):c.173C>T (p.Ala58Val) rs760636932 0.00001
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys) rs771377186 0.00001
NM_000318.3(PEX2):c.205A>G (p.Ile69Val) rs747866716 0.00001
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr) rs1180720095 0.00001
NM_000318.3(PEX2):c.226G>T (p.Val76Leu) rs1429397131 0.00001
NM_000318.3(PEX2):c.23C>T (p.Ala8Val) rs148428490 0.00001
NM_000318.3(PEX2):c.312C>G (p.Ile104Met) rs1242924229 0.00001
NM_000318.3(PEX2):c.331A>G (p.Ile111Val) rs774994658 0.00001
NM_000318.3(PEX2):c.335G>C (p.Gly112Ala) rs745832638 0.00001
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) rs1475014070 0.00001
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser) rs755169713 0.00001
NM_000318.3(PEX2):c.466A>G (p.Ile156Val) rs148972539 0.00001
NM_000318.3(PEX2):c.481G>A (p.Gly161Arg) rs377669414 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.517A>G (p.Ile173Val) rs773748299 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly) rs1806905614 0.00001
NM_000318.3(PEX2):c.635A>G (p.Asn212Ser) rs764386648 0.00001
NM_000318.3(PEX2):c.666A>G (p.Ser222=) rs1806901488 0.00001
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp) rs1345316527 0.00001
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg) rs1277419329 0.00001
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp) rs977528373 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg) rs756496949 0.00001
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372 0.00001
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg) rs987746060 0.00001
NM_000320.3(QDPR):c.147C>T (p.Ser49=) rs758659025 0.00001
NM_000320.3(QDPR):c.151A>G (p.Ser51Gly) rs1353342221 0.00001
NM_000320.3(QDPR):c.157A>G (p.Ile53Val) rs550966415 0.00001
NM_000320.3(QDPR):c.172G>A (p.Asp58Asn) rs1172704301 0.00001
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg) rs1371078094 0.00001
NM_000320.3(QDPR):c.334A>G (p.Ile112Val) rs112686538 0.00001
NM_000320.3(QDPR):c.436+5G>C rs764651358 0.00001
NM_000320.3(QDPR):c.437G>C (p.Gly146Ala) rs144673363 0.00001
NM_000320.3(QDPR):c.444C>T (p.Ile148=) rs754982401 0.00001
NM_000320.3(QDPR):c.490C>G (p.Leu164Val) rs774366700 0.00001
NM_000320.3(QDPR):c.496G>A (p.Gly166Arg) rs768729528 0.00001
NM_000320.3(QDPR):c.517C>G (p.Pro173Ala) rs1219263968 0.00001
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg) rs755535883 0.00001
NM_000320.3(QDPR):c.535G>A (p.Ala179Thr) rs761644688 0.00001
NM_000320.3(QDPR):c.545C>T (p.Pro182Leu) rs1364780551 0.00001
NM_000320.3(QDPR):c.55A>T (p.Arg19Trp) rs1431359277 0.00001
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr) rs777797545 0.00001
NM_000320.3(QDPR):c.8C>T (p.Ala3Val) rs759025201 0.00001
NM_000329.3(RPE65):c.*546A>C rs1462746486 0.00001
NM_000329.3(RPE65):c.*554C>T rs1645802843 0.00001
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser) rs769440649 0.00001
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly) rs749942889 0.00001
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) rs62636297 0.00001
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu) rs199613555 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.1334A>G (p.Asp445Gly) rs1645824155 0.00001
NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg) rs1468393625 0.00001
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser) rs767931252 0.00001
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) rs190761343 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile) rs1260914084 0.00001
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946 0.00001
NM_000329.3(RPE65):c.382G>T (p.Val128Phe) rs375611153 0.00001
NM_000329.3(RPE65):c.417G>A (p.Val139=) rs536073181 0.00001
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp) rs1645927491 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.494A>T (p.Gln165Leu) rs745338004 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.547A>G (p.Ile183Val) rs1010958875 0.00001
NM_000329.3(RPE65):c.563C>T (p.Thr188Ile) rs1196428445 0.00001
NM_000329.3(RPE65):c.576T>A (p.Ile192=) rs747122876 0.00001
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) rs577193739 0.00001
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser) rs758264644 0.00001
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys) rs1343005273 0.00001
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184 0.00001
NM_000329.3(RPE65):c.7A>G (p.Ile3Val) rs777461552 0.00001
NM_000329.3(RPE65):c.858+6T>C rs764221382 0.00001
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr) rs377762154 0.00001
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn) rs756160706 0.00001
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) rs1261473838 0.00001
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys) rs761284021 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000337.6(SGCD):c.*5819G>T rs962759358 0.00001
NM_000337.6(SGCD):c.190A>G (p.Ile64Val) rs753808210 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.194A>G (p.Asp65Gly) rs769883857 0.00001
NM_000337.6(SGCD):c.19T>C (p.Tyr7His) rs1561633494 0.00001
NM_000337.6(SGCD):c.296G>A (p.Gly99Asp) rs955284985 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.340A>G (p.Ile114Val) rs760206240 0.00001
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys) rs748107425 0.00001
NM_000337.6(SGCD):c.354G>T (p.Gln118His) rs770930747 0.00001
NM_000337.6(SGCD):c.359A>C (p.Lys120Thr) rs1385323214 0.00001
NM_000337.6(SGCD):c.35G>A (p.Ser12Asn) rs1449665448 0.00001
NM_000337.6(SGCD):c.421G>T (p.Val141Leu) rs1382070084 0.00001
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys) rs1324593212 0.00001
NM_000337.6(SGCD):c.461A>G (p.Asn154Ser) rs759767804 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NM_000337.6(SGCD):c.532A>G (p.Ile178Val) rs1200525320 0.00001
NM_000337.6(SGCD):c.547G>A (p.Val183Ile) rs751421543 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000337.6(SGCD):c.592C>T (p.Arg198Trp) rs561825515 0.00001
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) rs794727901 0.00001
NM_000337.6(SGCD):c.699+3G>A rs1757394496 0.00001
NM_000337.6(SGCD):c.715G>A (p.Ala239Thr) rs373871327 0.00001
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys) rs372607729 0.00001
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr) rs772799792 0.00001
NM_000337.6(SGCD):c.821C>T (p.Ser274Phe) rs768051118 0.00001
NM_000352.6(ABCC8):c.148+3G>A rs996321405 0.00001
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2694+15G>A rs886048051 0.00001
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.4545+9T>C rs775018351 0.00001
NM_000352.6(ABCC8):c.507C>T (p.Phe169=) rs755745806 0.00001
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000360.4(TH):c.1038G>C (p.Gln346His) rs770006796 0.00001
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) rs765379626 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1151A>G (p.Glu384Gly) rs540601354 0.00001
NM_000360.4(TH):c.1156A>G (p.Lys386Glu) rs1846071121 0.00001
NM_000360.4(TH):c.1200+5G>C rs774895306 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.1393G>A (p.Ala465Thr) rs1846021958 0.00001
NM_000360.4(TH):c.1394C>T (p.Ala465Val) rs1846021859 0.00001
NM_000360.4(TH):c.1426C>T (p.Arg476Trp) rs201616746 0.00001
NM_000360.4(TH):c.1427G>A (p.Arg476Gln) rs774575772 0.00001
NM_000360.4(TH):c.1429C>T (p.Arg477Cys) rs78779683 0.00001
NM_000360.4(TH):c.1430G>A (p.Arg477His) rs78426052 0.00001
NM_000360.4(TH):c.1490G>A (p.Gly497Asp) rs753632777 0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val) rs1338337952 0.00001
NM_000360.4(TH):c.185C>T (p.Ser62Leu) rs574633942 0.00001
NM_000360.4(TH):c.193G>A (p.Gly65Arg) rs780478399 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.244C>G (p.Leu82Val) rs1221965870 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.331C>T (p.His111Tyr) rs911394543 0.00001
NM_000360.4(TH):c.340G>A (p.Glu114Lys) rs759435668 0.00001
NM_000360.4(TH):c.38G>C (p.Gly13Ala) rs1225376055 0.00001
NM_000360.4(TH):c.392T>C (p.Phe131Ser) rs958536401 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.427G>A (p.Ala143Thr) rs201911992 0.00001
NM_000360.4(TH):c.434T>A (p.Leu145His) rs758527628 0.00001
NM_000360.4(TH):c.43C>T (p.Arg15Cys) rs573547573 0.00001
NM_000360.4(TH):c.445C>T (p.Arg149Cys) rs779228923 0.00001
NM_000360.4(TH):c.457G>A (p.Glu153Lys) rs754247629 0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly) rs766666741 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.541A>T (p.Thr181Ser) rs774561953 0.00001
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.565T>G (p.Leu189Val) rs751996815 0.00001
NM_000360.4(TH):c.574C>T (p.Pro192Ser) rs753359396 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.576+3G>A rs761872336 0.00001
NM_000360.4(TH):c.584C>T (p.Ser195Leu) rs372409517 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.739G>C (p.Ala247Pro) rs373283527 0.00001
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.773T>C (p.Leu258Pro) rs1846111747 0.00001
NM_000360.4(TH):c.823G>A (p.Val275Ile) rs770941754 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_000370.3(TTPA):c.*1441C>G rs553317836 0.00001
NM_000370.3(TTPA):c.*292A>G rs886063067 0.00001
NM_000370.3(TTPA):c.*769G>A rs775461769 0.00001
NM_000370.3(TTPA):c.117C>T (p.Gly39=) rs750576019 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) rs186021365 0.00001
NM_000370.3(TTPA):c.358+15A>G rs371592549 0.00001
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) rs748038814 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_000370.3(TTPA):c.663+10A>G rs374903020 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000376.3(VDR):c.803T>C (p.Ile268Thr) rs1164008328 0.00001
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419 0.00001
NM_000382.3(ALDH3A2):c.832G>A (p.Asp278Asn) rs934749419 0.00001
NM_000382.3(ALDH3A2):c.919G>A (p.Asp307Asn) rs745558212 0.00001
NM_000384.3(APOB):c.*207C>A rs886055566 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.4216+4A>G rs886055588 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.509-6C>G rs778046473 0.00001
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000414.4(HSD17B4):c.*123A>G rs956800775 0.00001
NM_000414.4(HSD17B4):c.1019C>T (p.Thr340Met) rs201568834 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) rs764406724 0.00001
NM_000414.4(HSD17B4):c.1436A>G (p.Lys479Arg) rs1318841272 0.00001
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser) rs757297524 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr) rs758207228 0.00001
NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr) rs780149071 0.00001
NM_000414.4(HSD17B4):c.1657G>A (p.Val553Met) rs149141475 0.00001
NM_000414.4(HSD17B4):c.1699G>A (p.Val567Ile) rs775795599 0.00001
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035 0.00001
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) rs375339818 0.00001
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822 0.00001
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val) rs1385683079 0.00001
NM_000414.4(HSD17B4):c.1898G>A (p.Arg633His) rs754096002 0.00001
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) rs368915056 0.00001
NM_000414.4(HSD17B4):c.1970G>A (p.Gly657Asp) rs141219265 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818 0.00001
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp) rs1456658488 0.00001
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys) rs149776885 0.00001
NM_000414.4(HSD17B4):c.2180A>G (p.Gln727Arg) rs766910805 0.00001
NM_000414.4(HSD17B4):c.220+3A>G rs759069970 0.00001
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125 0.00001
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr) rs763121959 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser) rs200867795 0.00001
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val) rs369978622 0.00001
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe) rs776042035 0.00001
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp) rs752485547 0.00001
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln) rs148103319 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile) rs566853691 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn) rs1313279253 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) rs1315125567 0.00001
NM_000441.2(SLC26A4):c.*1277A>G rs560359006 0.00001
NM_000441.2(SLC26A4):c.*1517G>C rs2712205 0.00001
NM_000441.2(SLC26A4):c.*1960T>A rs886061893 0.00001
NM_000441.2(SLC26A4):c.*202G>A rs1005739547 0.00001
NM_000441.2(SLC26A4):c.*2065G>A rs1276655952 0.00001
NM_000441.2(SLC26A4):c.*2147G>A rs886061894 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr) rs397516412 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1546C>T (p.Pro516Ser) rs753960052 0.00001
NM_000441.2(SLC26A4):c.1696A>G (p.Ile566Val) rs1300878615 0.00001
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519 0.00001
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) rs397516422 0.00001
NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val) rs559273196 0.00001
NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser) rs997848557 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484 0.00001
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) rs909072667 0.00001
NM_000441.2(SLC26A4):c.2070G>A (p.Val690=) rs374686650 0.00001
NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val) rs1791982304 0.00001
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) rs981410021 0.00001
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser) rs1057517303 0.00001
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034 0.00001
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432 0.00001
NM_000441.2(SLC26A4):c.232T>C (p.Tyr78His) rs760794201 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn) rs1562818627 0.00001
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val) rs759268252 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.501_502insCAA (p.Asn167_Gly168insGln) rs758521444 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) rs147078785 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) rs761613436 0.00001
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000445.5(PLEC):c.107C>G (p.Thr36Arg) rs377391128 0.00001
NM_000445.5(PLEC):c.127G>A (p.Gly43Arg) rs553320718 0.00001
NM_000445.5(PLEC):c.143G>A (p.Ser48Asn) rs782186838 0.00001
NM_000445.5(PLEC):c.158T>C (p.Leu53Pro) rs781861668 0.00001
NM_000445.5(PLEC):c.55A>G (p.Ser19Gly) rs1554745694 0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000466.3(PEX1):c.*236C>A rs1403267319 0.00001
NM_000466.3(PEX1):c.-45T>C rs886062509 0.00001
NM_000466.3(PEX1):c.-77C>G rs1301449696 0.00001
NM_000466.3(PEX1):c.1021C>G (p.Pro341Ala) rs137856931 0.00001
NM_000466.3(PEX1):c.1099C>A (p.Gln367Lys) rs140990231 0.00001
NM_000466.3(PEX1):c.1166A>G (p.Asn389Ser) rs1179674772 0.00001
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser) rs398123407 0.00001
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr) rs780611674 0.00001
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile) rs780349018 0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys) rs746349696 0.00001
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg) rs1219227236 0.00001
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val) rs771520057 0.00001
NM_000466.3(PEX1):c.1516T>C (p.Ser506Pro) rs778220793 0.00001
NM_000466.3(PEX1):c.15T>A (p.Asp5Glu) rs201385649 0.00001
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu) rs1378023176 0.00001
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys) rs917874479 0.00001
NM_000466.3(PEX1):c.1621A>G (p.Ser541Gly) rs1204334087 0.00001
NM_000466.3(PEX1):c.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00001
NM_000466.3(PEX1):c.169T>C (p.Phe57Leu) rs1162642408 0.00001
NM_000466.3(PEX1):c.1714C>G (p.His572Asp) rs1167491787 0.00001
NM_000466.3(PEX1):c.1750A>G (p.Met584Val) rs758085238 0.00001
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe) rs1792225580 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys) rs754337792 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg) rs148427398 0.00001
NM_000466.3(PEX1):c.1851T>A (p.Phe617Leu) rs762766482 0.00001
NM_000466.3(PEX1):c.1916A>T (p.Asn639Ile) rs200438144 0.00001
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala) rs1251466114 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr) rs759330849 0.00001
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048 0.00001
NM_000466.3(PEX1):c.2174C>T (p.Ala725Val) rs1268325040 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759 0.00001
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg) rs921866912 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2456G>A (p.Arg819His) rs376273608 0.00001
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416 0.00001
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe) rs202090176 0.00001
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile) rs763218526 0.00001
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val) rs1009218596 0.00001
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe) rs376029287 0.00001
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr) rs757305859 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2783+4G>A rs751416309 0.00001
NM_000466.3(PEX1):c.2789A>G (p.Gln930Arg) rs201376737 0.00001
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val) rs753349772 0.00001
NM_000466.3(PEX1):c.289T>C (p.Cys97Arg) rs1792936652 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val) rs780843399 0.00001
NM_000466.3(PEX1):c.2947A>C (p.Thr983Pro) rs1791533248 0.00001
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln) rs61750429 0.00001
NM_000466.3(PEX1):c.3007G>A (p.Val1003Ile) rs147055244 0.00001
NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile) rs138992611 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3208-3T>C rs763767937 0.00001
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg) rs752475812 0.00001
NM_000466.3(PEX1):c.3383T>A (p.Leu1128His) rs747206901 0.00001
NM_000466.3(PEX1):c.3439-13A>G rs756042510 0.00001
NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe) rs375607384 0.00001
NM_000466.3(PEX1):c.3485C>G (p.Pro1162Arg) rs139869362 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722 0.00001
NM_000466.3(PEX1):c.35G>A (p.Gly12Glu) rs747408581 0.00001
NM_000466.3(PEX1):c.3636+4T>C rs764752742 0.00001
NM_000466.3(PEX1):c.3637-19A>G rs367814599 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.3665C>T (p.Pro1222Leu) rs371575516 0.00001
NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser) rs1173172739 0.00001
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg) rs766682184 0.00001
NM_000466.3(PEX1):c.3710C>T (p.Ala1237Val) rs1473858573 0.00001
NM_000466.3(PEX1):c.3772G>A (p.Glu1258Lys) rs749050363 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu) rs765142376 0.00001
NM_000466.3(PEX1):c.404G>A (p.Arg135Gln) rs754529845 0.00001
NM_000466.3(PEX1):c.440T>C (p.Val147Ala) rs750928084 0.00001
NM_000466.3(PEX1):c.457A>G (p.Ile153Val) rs200106153 0.00001
NM_000466.3(PEX1):c.458T>C (p.Ile153Thr) rs760942926 0.00001
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro) rs775093154 0.00001
NM_000466.3(PEX1):c.659C>T (p.Ser220Leu) rs759048090 0.00001
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys) rs781371997 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.814G>A (p.Ala272Thr) rs528610267 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.853A>G (p.Asn285Asp) rs1407539383 0.00001
NM_000466.3(PEX1):c.854A>G (p.Asn285Ser) rs781103940 0.00001
NM_000466.3(PEX1):c.953A>G (p.Asp318Gly) rs751341597 0.00001
NM_000492.4(CFTR):c.-602A>T rs879620559 0.00001
NM_000492.4(CFTR):c.1003A>G (p.Lys335Glu) rs1431852129 0.00001
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) rs768589673 0.00001
NM_000492.4(CFTR):c.1137A>C (p.Glu379Asp) rs774308232 0.00001
NM_000492.4(CFTR):c.117A>C (p.Gln39His) rs764522674 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1258A>G (p.Lys420Glu) rs377629509 0.00001
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp) rs765791986 0.00001
NM_000492.4(CFTR):c.1315C>A (p.Pro439Thr) rs397508187 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1340A>G (p.Lys447Arg) rs746941790 0.00001
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr) rs748642635 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.142A>C (p.Asn48His) rs1248202161 0.00001
NM_000492.4(CFTR):c.1430C>A (p.Pro477His) rs886044297 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 0.00001
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val) rs768243039 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His) rs778175128 0.00001
NM_000492.4(CFTR):c.1544A>G (p.Tyr515Cys) rs1554384431 0.00001
NM_000492.4(CFTR):c.1585-7G>A rs1367201083 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu) rs148173473 0.00001
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys) rs1196851290 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile) rs187318937 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1732C>G (p.Leu578Val) rs979121392 0.00001
NM_000492.4(CFTR):c.1792A>G (p.Lys598Glu) rs397508302 0.00001
NM_000492.4(CFTR):c.1796C>G (p.Thr599Ser) rs754945422 0.00001
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe) rs1048183757 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715 0.00001
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met) rs1485998437 0.00001
NM_000492.4(CFTR):c.2068A>G (p.Thr690Ala) rs780579840 0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val) rs745538406 0.00001
NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys) rs1395267446 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2219C>T (p.Pro740Leu) rs150772285 0.00001
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys) rs772661780 0.00001
NM_000492.4(CFTR):c.2252G>A (p.Arg751His) rs397508357 0.00001
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser) rs766541549 0.00001
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716 0.00001
NM_000492.4(CFTR):c.2305G>A (p.Val769Ile) rs1379518832 0.00001
NM_000492.4(CFTR):c.2323C>T (p.His775Tyr) rs748045283 0.00001
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) rs397508365 0.00001
NM_000492.4(CFTR):c.232T>C (p.Phe78Leu) rs1181846000 0.00001
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro) rs1291965190 0.00001
NM_000492.4(CFTR):c.2406G>C (p.Leu802Phe) rs1314080734 0.00001
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys) rs1792049376 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) rs778688276 0.00001
NM_000492.4(CFTR):c.2482G>A (p.Asp828Asn) rs759726447 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.2526A>G (p.Ala842=) rs758128209 0.00001
NM_000492.4(CFTR):c.256A>G (p.Ile86Val) rs749432776 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) rs766181463 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2708A>G (p.Tyr903Cys) rs147297080 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu) rs770502501 0.00001
NM_000492.4(CFTR):c.2778G>T (p.Leu926Phe) rs767910302 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2800G>A (p.Gly934Ser) rs750655055 0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr) rs780528577 0.00001
NM_000492.4(CFTR):c.2815C>G (p.His939Asp) rs397508439 0.00001
NM_000492.4(CFTR):c.281C>T (p.Thr94Ile) rs767204327 0.00001
NM_000492.4(CFTR):c.2831T>C (p.Val944Ala) rs141747560 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2860C>T (p.His954Tyr) rs779528411 0.00001
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val) rs397508448 0.00001
NM_000492.4(CFTR):c.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.290T>C (p.Val97Ala) rs1235363099 0.00001
NM_000492.4(CFTR):c.2929T>G (p.Ser977Ala) rs137975784 0.00001
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) rs748430234 0.00001
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) rs370181570 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 0.00001
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val) rs1562914085 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met) rs144441835 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3139+3A>G rs950336425 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr) rs397508510 0.00001
NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala) rs1792387784 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys) rs764434414 0.00001
NM_000492.4(CFTR):c.3308T>C (p.Ile1103Thr) rs1161781532 0.00001
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr) rs751853765 0.00001
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly) rs770241677 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549 0.00001
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val) rs755472768 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.3410T>C (p.Met1137Thr) rs397508555 0.00001
NM_000492.4(CFTR):c.3418A>G (p.Met1140Val) rs774415786 0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3488T>G (p.Val1163Gly) rs776696255 0.00001
NM_000492.4(CFTR):c.3511A>G (p.Thr1171Ala) rs778797502 0.00001
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro) rs762167681 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000492.4(CFTR):c.3642T>A (p.Asp1214Glu) rs1584830230 0.00001
NM_000492.4(CFTR):c.3667G>A (p.Gly1223Arg) rs1320914611 0.00001
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val) rs770358073 0.00001
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln) rs759116351 0.00001
NM_000492.4(CFTR):c.3709G>A (p.Gly1237Ser) rs1554394076 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3762A>T (p.Leu1254Phe) rs768411899 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233 0.00001
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.3874-14C>G rs184271150 0.00001
NM_000492.4(CFTR):c.3893G>T (p.Gly1298Val) rs193922522 0.00001
NM_000492.4(CFTR):c.3895A>G (p.Thr1299Ala) rs750604866 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646 0.00001
NM_000492.4(CFTR):c.3963+6G>T rs1793110791 0.00001
NM_000492.4(CFTR):c.3988C>G (p.Gln1330Glu) rs375661578 0.00001
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile) rs1371379517 0.00001
NM_000492.4(CFTR):c.4037T>A (p.Leu1346Gln) rs1313341594 0.00001
NM_000492.4(CFTR):c.403A>T (p.Thr135Ser) rs771512600 0.00001
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr) rs955306189 0.00001
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771 0.00001
NM_000492.4(CFTR):c.4087A>C (p.Lys1363Gln) rs1060503166 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.4109A>G (p.Asp1370Gly) rs766124395 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677 0.00001
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro) rs1800078 0.00001
NM_000492.4(CFTR):c.4142A>G (p.Tyr1381Cys) rs776388660 0.00001
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=) rs397508683 0.00001
NM_000492.4(CFTR):c.4159A>G (p.Thr1387Ala) rs1455404428 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000492.4(CFTR):c.4186A>C (p.Thr1396Pro) rs375552160 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4230C>G (p.Cys1410Trp) rs1165501753 0.00001
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu) rs142092183 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln) rs780785939 0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708 0.00001
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe) rs762847468 0.00001
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys) rs750559671 0.00001
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp) rs397508711 0.00001
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln) rs975983947 0.00001
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr) rs766659587 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn) rs983279303 0.00001
NM_000492.4(CFTR):c.436C>T (p.His146Tyr) rs1798856136 0.00001
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn) rs1562929623 0.00001
NM_000492.4(CFTR):c.441C>G (p.His147Gln) rs759310470 0.00001
NM_000492.4(CFTR):c.4427A>G (p.Gln1476Arg) rs1793396213 0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166 0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) rs397508725 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.489+5T>C rs1453085631 0.00001
NM_000492.4(CFTR):c.49T>C (p.Phe17Leu) rs779256353 0.00001
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile) rs769606990 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) rs397508747 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.579+34A>G rs148209839 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) rs397508772 0.00001
NM_000492.4(CFTR):c.648G>T (p.Trp216Cys) rs397508776 0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val) rs1056986309 0.00001
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys) rs758012554 0.00001
NM_000492.4(CFTR):c.744-6T>G rs878854022 0.00001
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile) rs377514639 0.00001
NM_000492.4(CFTR):c.841A>G (p.Met281Val) rs755215339 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+14A>G rs1554380834 0.00001
NM_000492.4(CFTR):c.869+25A>G rs1554380840 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.8G>T (p.Arg3Met) rs1052894635 0.00001
NM_000492.4(CFTR):c.913T>G (p.Phe305Val) rs201885470 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) rs56093012 0.00001
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) rs141115171 0.00001
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) rs397508825 0.00001
NM_000506.5(F2):c.1037C>T (p.Ser346Leu) rs552341778 0.00001
NM_000506.5(F2):c.730G>T (p.Ala244Ser) rs886048334 0.00001
NM_000506.5(F2):c.915G>A (p.Glu305=) rs886048335 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*18C>A rs1348310843 0.00001
NM_000518.5(HBB):c.*53C>A rs886048393 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His) rs750689750 0.00001
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys) rs371275937 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=) rs759487287 0.00001
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=) rs746308356 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000543.5(SMPD1):c.*183T>G rs886048448 0.00001
NM_000543.5(SMPD1):c.-39A>T rs767402489 0.00001
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu) rs772473982 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser) rs1554935371 0.00001
NM_000543.5(SMPD1):c.1517A>G (p.Tyr506Cys) rs774651673 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg) rs776759986 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys) rs774190691 0.00001
NM_000543.5(SMPD1):c.1698G>T (p.Met566Ile) rs757364674 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala) rs748635475 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln) rs1397949984 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.291A>G (p.Leu97=) rs144428799 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln) rs746421946 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.820A>G (p.Met274Val) rs763437061 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.5(SMPD1):c.986T>G (p.Phe329Cys) rs886048446 0.00001
NM_000553.5(WRN):c.-380G>A rs886062877 0.00001
NM_000553.6(WRN):c.*458T>A rs886062895 0.00001
NM_000553.6(WRN):c.-121C>G rs1563314112 0.00001
NM_000553.6(WRN):c.-135G>C rs1370866218 0.00001
NM_000553.6(WRN):c.-152G>A rs886062885 0.00001
NM_000553.6(WRN):c.-240G>A rs867674808 0.00001
NM_000553.6(WRN):c.-37A>G rs370014019 0.00001
NM_000553.6(WRN):c.1007A>G (p.His336Arg) rs774075901 0.00001
NM_000553.6(WRN):c.1018A>G (p.Ile340Val) rs771859604 0.00001
NM_000553.6(WRN):c.104T>C (p.Val35Ala) rs538178496 0.00001
NM_000553.6(WRN):c.1070A>G (p.His357Arg) rs372907716 0.00001
NM_000553.6(WRN):c.1073A>G (p.Asp358Gly) rs780287000 0.00001
NM_000553.6(WRN):c.1084G>A (p.Val362Ile) rs755136292 0.00001
NM_000553.6(WRN):c.1093A>C (p.Asn365His) rs749035826 0.00001
NM_000553.6(WRN):c.1106G>A (p.Arg369Gln) rs1351358663 0.00001
NM_000553.6(WRN):c.113G>A (p.Ser38Asn) rs1812387510 0.00001
NM_000553.6(WRN):c.1145A>G (p.Lys382Arg) rs541455377 0.00001
NM_000553.6(WRN):c.1162G>A (p.Glu388Lys) rs1060500067 0.00001
NM_000553.6(WRN):c.1168G>C (p.Ala390Pro) rs1359786371 0.00001
NM_000553.6(WRN):c.1178T>C (p.Met393Thr) rs1322387323 0.00001
NM_000553.6(WRN):c.1192A>G (p.Thr398Ala) rs532554615 0.00001
NM_000553.6(WRN):c.1195G>C (p.Glu399Gln) rs1487292951 0.00001
NM_000553.6(WRN):c.1199A>G (p.His400Arg) rs757065467 0.00001
NM_000553.6(WRN):c.1201G>A (p.Glu401Lys) rs1427377228 0.00001
NM_000553.6(WRN):c.121G>A (p.Glu41Lys) rs1812387849 0.00001
NM_000553.6(WRN):c.1240C>G (p.Leu414Val) rs587778755 0.00001
NM_000553.6(WRN):c.1267G>A (p.Glu423Lys) rs773546749 0.00001
NM_000553.6(WRN):c.1270-5T>A rs1348438150 0.00001
NM_000553.6(WRN):c.1280C>T (p.Pro427Leu) rs1406905598 0.00001
NM_000553.6(WRN):c.1283A>G (p.Asn428Ser) rs774668851 0.00001
NM_000553.6(WRN):c.1288A>G (p.Asn430Asp) rs573775829 0.00001
NM_000553.6(WRN):c.1307A>G (p.Tyr436Cys) rs1290717956 0.00001
NM_000553.6(WRN):c.1324G>A (p.Glu442Lys) rs147669987 0.00001
NM_000553.6(WRN):c.1328A>G (p.Asp443Gly) rs751493081 0.00001
NM_000553.6(WRN):c.1350+5G>A rs777352508 0.00001
NM_000553.6(WRN):c.1364A>G (p.Asn455Ser) rs1445851476 0.00001
NM_000553.6(WRN):c.1367A>T (p.Asp456Val) rs368120966 0.00001
NM_000553.6(WRN):c.1373A>G (p.Glu458Gly) rs1813481138 0.00001
NM_000553.6(WRN):c.1404T>G (p.Asp468Glu) rs770053876 0.00001
NM_000553.6(WRN):c.1426C>T (p.Leu476Phe) rs1060500073 0.00001
NM_000553.6(WRN):c.1430A>G (p.Lys477Arg) rs753372985 0.00001
NM_000553.6(WRN):c.1431+5G>A rs570970106 0.00001
NM_000553.6(WRN):c.1432T>C (p.Ser478Pro) rs745685947 0.00001
NM_000553.6(WRN):c.1439A>T (p.Glu480Val) rs775240079 0.00001
NM_000553.6(WRN):c.1448A>G (p.Asn483Ser) rs764011979 0.00001
NM_000553.6(WRN):c.1453G>A (p.Gly485Ser) rs1191046615 0.00001
NM_000553.6(WRN):c.1456A>G (p.Thr486Ala) rs1277450263 0.00001
NM_000553.6(WRN):c.1457C>T (p.Thr486Met) rs761328537 0.00001
NM_000553.6(WRN):c.145T>A (p.Phe49Ile) rs587778749 0.00001
NM_000553.6(WRN):c.1475C>T (p.Ser492Phe) rs766910166 0.00001
NM_000553.6(WRN):c.1499A>C (p.Asn500Thr) rs1813593040 0.00001
NM_000553.6(WRN):c.1534G>A (p.Asp512Asn) rs1232681316 0.00001
NM_000553.6(WRN):c.1543G>C (p.Glu515Gln) rs376345065 0.00001
NM_000553.6(WRN):c.1576+6C>T rs1428635169 0.00001
NM_000553.6(WRN):c.158T>C (p.Ile53Thr) rs1276730563 0.00001
NM_000553.6(WRN):c.1598A>G (p.Asn533Ser) rs11574240 0.00001
NM_000553.6(WRN):c.1604A>T (p.Glu535Val) rs765475534 0.00001
NM_000553.6(WRN):c.1609G>T (p.Val537Phe) rs1217102061 0.00001
NM_000553.6(WRN):c.1618C>T (p.Leu540Phe) rs750684158 0.00001
NM_000553.6(WRN):c.1654G>T (p.Val552Phe) rs1250329020 0.00001
NM_000553.6(WRN):c.1690A>G (p.Arg564Gly) rs1813704662 0.00001
NM_000553.6(WRN):c.1697A>G (p.Asp566Gly) rs758649710 0.00001
NM_000553.6(WRN):c.1708G>C (p.Val570Leu) rs587778746 0.00001
NM_000553.6(WRN):c.1721G>A (p.Gly574Glu) rs1563344853 0.00001
NM_000553.6(WRN):c.1748A>G (p.Tyr583Cys) rs933791992 0.00001
NM_000553.6(WRN):c.175G>T (p.Ala59Ser) rs1460186288 0.00001
NM_000553.6(WRN):c.1772T>C (p.Ile591Thr) rs1191540289 0.00001
NM_000553.6(WRN):c.1775G>T (p.Gly592Val) rs1813722321 0.00001
NM_000553.6(WRN):c.1795A>G (p.Ile599Val) rs368931681 0.00001
NM_000553.6(WRN):c.1814A>G (p.Gln605Arg) rs761654576 0.00001
NM_000553.6(WRN):c.1820T>C (p.Leu607Pro) rs1383495146 0.00001
NM_000553.6(WRN):c.1829A>C (p.Lys610Thr) rs906224040 0.00001
NM_000553.6(WRN):c.1838A>G (p.Asn613Ser) rs754443271 0.00001
NM_000553.6(WRN):c.185G>A (p.Cys62Tyr) rs1220664311 0.00001
NM_000553.6(WRN):c.1886C>T (p.Thr629Ile) rs757722268 0.00001
NM_000553.6(WRN):c.1898+3G>C rs942177812 0.00001
NM_000553.6(WRN):c.1898+3_1898+4insTT rs759455743 0.00001
NM_000553.6(WRN):c.1898+5G>A rs775691856 0.00001
NM_000553.6(WRN):c.1899-15T>A rs781434765 0.00001
NM_000553.6(WRN):c.1899A>T (p.Leu633Phe) rs878854134 0.00001
NM_000553.6(WRN):c.1901G>A (p.Gly634Asp) rs759533715 0.00001
NM_000553.6(WRN):c.1921G>A (p.Val641Ile) rs572026265 0.00001
NM_000553.6(WRN):c.192C>G (p.Phe64Leu) rs1374804871 0.00001
NM_000553.6(WRN):c.1937G>A (p.Cys646Tyr) rs916536455 0.00001
NM_000553.6(WRN):c.1957C>G (p.Leu653Val) rs373177461 0.00001
NM_000553.6(WRN):c.1964A>T (p.Gln655Leu) rs376938452 0.00001
NM_000553.6(WRN):c.1982G>A (p.Gly661Asp) rs755426500 0.00001
NM_000553.6(WRN):c.1988C>T (p.Thr663Met) rs752650803 0.00001
NM_000553.6(WRN):c.1999G>A (p.Val667Met) rs748097536 0.00001
NM_000553.6(WRN):c.2009C>T (p.Ala670Val) rs1272066150 0.00001
NM_000553.6(WRN):c.2012A>G (p.His671Arg) rs1060500060 0.00001
NM_000553.6(WRN):c.2023G>C (p.Glu675Gln) rs758232075 0.00001
NM_000553.6(WRN):c.2027G>C (p.Trp676Ser) rs779805817 0.00001
NM_000553.6(WRN):c.2033A>G (p.His678Arg) rs747555501 0.00001
NM_000553.6(WRN):c.2057A>G (p.Lys686Arg) rs370522829 0.00001
NM_000553.6(WRN):c.2083C>T (p.Pro695Ser) rs752841355 0.00001
NM_000553.6(WRN):c.2086A>G (p.Met696Val) rs756149876 0.00001
NM_000553.6(WRN):c.2087T>G (p.Met696Arg) rs1246267919 0.00001
NM_000553.6(WRN):c.2088+6C>T rs886062888 0.00001
NM_000553.6(WRN):c.2095A>G (p.Ile699Val) rs756115593 0.00001
NM_000553.6(WRN):c.2102C>A (p.Ala701Glu) rs904972234 0.00001
NM_000553.6(WRN):c.2111C>G (p.Ala704Gly) rs1480350235 0.00001
NM_000553.6(WRN):c.2147G>A (p.Arg716His) rs753428420 0.00001
NM_000553.6(WRN):c.2158C>G (p.Leu720Val) rs920563936 0.00001
NM_000553.6(WRN):c.2167C>T (p.Pro723Ser) rs1241449748 0.00001
NM_000553.6(WRN):c.2171A>G (p.Gln724Arg) rs372795551 0.00001
NM_000553.6(WRN):c.2191G>A (p.Asp731Asn) rs1291568074 0.00001
NM_000553.6(WRN):c.2192A>T (p.Asp731Val) rs747317429 0.00001
NM_000553.6(WRN):c.219A>G (p.Leu73=) rs566693857 0.00001
NM_000553.6(WRN):c.2207A>G (p.Tyr736Cys) rs769819743 0.00001
NM_000553.6(WRN):c.2224A>C (p.Lys742Gln) rs1294260404 0.00001
NM_000553.6(WRN):c.2273+3A>G rs1378766075 0.00001
NM_000553.6(WRN):c.2273+4A>G rs1801330235 0.00001
NM_000553.6(WRN):c.2294G>A (p.Gly765Asp) rs754619565 0.00001
NM_000553.6(WRN):c.2296C>G (p.Pro766Ala) rs781541304 0.00001
NM_000553.6(WRN):c.2315C>T (p.Pro772Leu) rs140730934 0.00001
NM_000553.6(WRN):c.2372G>A (p.Cys791Tyr) rs754423621 0.00001
NM_000553.6(WRN):c.2380T>C (p.Tyr794His) rs1354121013 0.00001
NM_000553.6(WRN):c.2387C>T (p.Ala796Val) rs779140898 0.00001
NM_000553.6(WRN):c.2390G>A (p.Gly797Asp) rs1289361749 0.00001
NM_000553.6(WRN):c.2414A>G (p.Asp805Gly) rs1175680631 0.00001
NM_000553.6(WRN):c.2438A>G (p.Asp813Gly) rs1585478562 0.00001
NM_000553.6(WRN):c.2443A>G (p.Ile815Val) rs974712158 0.00001
NM_000553.6(WRN):c.2448+5G>T rs1038943357 0.00001
NM_000553.6(WRN):c.2479G>A (p.Gly827Ser) rs1419513916 0.00001
NM_000553.6(WRN):c.2509A>G (p.Ile837Val) rs762233119 0.00001
NM_000553.6(WRN):c.2515T>G (p.Tyr839Asp) rs765666269 0.00001
NM_000553.6(WRN):c.2529G>C (p.Lys843Asn) rs886062889 0.00001
NM_000553.6(WRN):c.2543A>G (p.Tyr848Cys) rs748334111 0.00001
NM_000553.6(WRN):c.2555T>C (p.Ile852Thr) rs1197212037 0.00001
NM_000553.6(WRN):c.2570G>A (p.Arg857His) rs369971328 0.00001
NM_000553.6(WRN):c.2592T>G (p.Cys864Trp) rs1157707218 0.00001
NM_000553.6(WRN):c.2596G>A (p.Val866Ile) rs776463866 0.00001
NM_000553.6(WRN):c.2606C>T (p.Ala869Val) rs911130133 0.00001
NM_000553.6(WRN):c.2611G>A (p.Ala871Thr) rs1333185923 0.00001
NM_000553.6(WRN):c.2617A>G (p.Ile873Val) rs1563363216 0.00001
NM_000553.6(WRN):c.2638C>T (p.Leu880Phe) rs1235836800 0.00001
NM_000553.6(WRN):c.2647A>T (p.Ile883Leu) rs769510537 0.00001
NM_000553.6(WRN):c.2666G>A (p.Arg889Gln) rs374262282 0.00001
NM_000553.6(WRN):c.2696T>C (p.Met899Thr) rs1177786753 0.00001
NM_000553.6(WRN):c.2789T>C (p.Met930Thr) rs777323246 0.00001
NM_000553.6(WRN):c.2825G>A (p.Arg942Lys) rs772600753 0.00001
NM_000553.6(WRN):c.2825G>C (p.Arg942Thr) rs772600753 0.00001
NM_000553.6(WRN):c.2829G>A (p.Leu943=) rs1275133985 0.00001
NM_000553.6(WRN):c.2833C>G (p.His945Asp) rs1354237583 0.00001
NM_000553.6(WRN):c.2923G>A (p.Glu975Lys) rs1398994951 0.00001
NM_000553.6(WRN):c.2924A>C (p.Glu975Ala) rs767486739 0.00001
NM_000553.6(WRN):c.2930T>C (p.Phe977Ser) rs1240153902 0.00001
NM_000553.6(WRN):c.2956C>A (p.Leu986Ile) rs1027359163 0.00001
NM_000553.6(WRN):c.2960G>A (p.Arg987Gln) rs569405870 0.00001
NM_000553.6(WRN):c.2967+2dup rs1366512232 0.00001
NM_000553.6(WRN):c.2971T>C (p.Ser991Pro) rs1256461901 0.00001
NM_000553.6(WRN):c.2985C>T (p.Ala995=) rs150095039 0.00001
NM_000553.6(WRN):c.2990A>G (p.Gln997Arg) rs776286762 0.00001
NM_000553.6(WRN):c.2995C>T (p.Arg999Cys) rs761819112 0.00001
NM_000553.6(WRN):c.29C>T (p.Ala10Val) rs1254527882 0.00001
NM_000553.6(WRN):c.3001C>T (p.His1001Tyr) rs374413412 0.00001
NM_000553.6(WRN):c.3014G>A (p.Gly1005Asp) rs1196153953 0.00001
NM_000553.6(WRN):c.3048G>C (p.Lys1016Asn) rs1419575801 0.00001
NM_000553.6(WRN):c.3077G>C (p.Gly1026Ala) rs1185861750 0.00001
NM_000553.6(WRN):c.3088G>A (p.Glu1030Lys) rs143793363 0.00001
NM_000553.6(WRN):c.3094T>C (p.Ser1032Pro) rs1802631623 0.00001
NM_000553.6(WRN):c.3098G>A (p.Arg1033Gln) rs367789256 0.00001
NM_000553.6(WRN):c.3100T>C (p.Tyr1034His) rs1468633117 0.00001
NM_000553.6(WRN):c.3112A>G (p.Met1038Val) rs749207633 0.00001
NM_000553.6(WRN):c.3112A>T (p.Met1038Leu) rs749207633 0.00001
NM_000553.6(WRN):c.3113T>C (p.Met1038Thr) rs377096989 0.00001
NM_000553.6(WRN):c.3124G>A (p.Ala1042Thr) rs1393051955 0.00001
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595 0.00001
NM_000553.6(WRN):c.3131C>T (p.Thr1044Met) rs780547284 0.00001
NM_000553.6(WRN):c.3155A>G (p.His1052Arg) rs1394772553 0.00001
NM_000553.6(WRN):c.3162T>C (p.Ala1054=) rs111426441 0.00001
NM_000553.6(WRN):c.3166A>G (p.Thr1056Ala) rs1802643784 0.00001
NM_000553.6(WRN):c.316G>A (p.Glu106Lys) rs1198758450 0.00001
NM_000553.6(WRN):c.3197A>G (p.Asn1066Ser) rs1258084742 0.00001
NM_000553.6(WRN):c.3224T>C (p.Leu1075Pro) rs766463285 0.00001
NM_000553.6(WRN):c.3233+6T>C rs1030398504 0.00001
NM_000553.6(WRN):c.3253G>A (p.Gly1085Ser) rs1158431660 0.00001
NM_000553.6(WRN):c.327T>G (p.Cys109Trp) rs371538747 0.00001
NM_000553.6(WRN):c.3309G>A (p.Lys1103=) rs770117143 0.00001
NM_000553.6(WRN):c.3323A>C (p.Lys1108Thr) rs201274303 0.00001
NM_000553.6(WRN):c.3334T>C (p.Tyr1112His) rs1213099634 0.00001
NM_000553.6(WRN):c.3335A>G (p.Tyr1112Cys) rs113532342 0.00001
NM_000553.6(WRN):c.3340C>T (p.Pro1114Ser) rs749621372 0.00001
NM_000553.6(WRN):c.3343T>A (p.Cys1115Ser) rs886062893 0.00001
NM_000553.6(WRN):c.3343T>C (p.Cys1115Arg) rs886062893 0.00001
NM_000553.6(WRN):c.334T>C (p.Phe112Leu) rs1812615367 0.00001
NM_000553.6(WRN):c.3351G>T (p.Lys1117Asn) rs774886450 0.00001
NM_000553.6(WRN):c.3382A>C (p.Ser1128Arg) rs1169330916 0.00001
NM_000553.6(WRN):c.3388A>G (p.Met1130Val) rs532384887 0.00001
NM_000553.6(WRN):c.3388A>T (p.Met1130Leu) rs532384887 0.00001
NM_000553.6(WRN):c.338A>G (p.His113Arg) rs979134587 0.00001
NM_000553.6(WRN):c.3409G>T (p.Ala1137Ser) rs545826298 0.00001
NM_000553.6(WRN):c.344C>T (p.Ser115Phe) rs1362437279 0.00001
NM_000553.6(WRN):c.3454A>T (p.Thr1152Ser) rs1309001891 0.00001
NM_000553.6(WRN):c.3473G>A (p.Gly1158Asp) rs1432278146 0.00001
NM_000553.6(WRN):c.3483A>T (p.Val1161=) rs1292940121 0.00001
NM_000553.6(WRN):c.349A>G (p.Met117Val) rs768216398 0.00001
NM_000553.6(WRN):c.3517G>T (p.Val1173Phe) rs971816710 0.00001
NM_000553.6(WRN):c.3538A>G (p.Thr1180Ala) rs772910372 0.00001
NM_000553.6(WRN):c.3559A>G (p.Met1187Val) rs762592772 0.00001
NM_000553.6(WRN):c.3584T>C (p.Val1195Ala) rs550252124 0.00001
NM_000553.6(WRN):c.3604G>A (p.Asp1202Asn) rs753920588 0.00001
NM_000553.6(WRN):c.3616G>C (p.Glu1206Gln) rs746082406 0.00001
NM_000553.6(WRN):c.3631A>G (p.Met1211Val) rs769665112 0.00001
NM_000553.6(WRN):c.3649G>A (p.Glu1217Lys) rs376485135 0.00001
NM_000553.6(WRN):c.3658A>G (p.Lys1220Glu) rs1202899288 0.00001
NM_000553.6(WRN):c.3670C>G (p.Gln1224Glu) rs1803078013 0.00001
NM_000553.6(WRN):c.3699T>G (p.Phe1233Leu) rs761162177 0.00001
NM_000553.6(WRN):c.3700T>G (p.Ser1234Ala) rs951983679 0.00001
NM_000553.6(WRN):c.3703A>G (p.Ser1235Gly) rs769121831 0.00001
NM_000553.6(WRN):c.3773C>T (p.Ser1258Phe) rs1454700100 0.00001
NM_000553.6(WRN):c.3775A>G (p.Met1259Val) rs1053530158 0.00001
NM_000553.6(WRN):c.3781A>G (p.Ile1261Val) rs201661079 0.00001
NM_000553.6(WRN):c.378G>A (p.Met126Ile) rs1585409053 0.00001
NM_000553.6(WRN):c.37C>T (p.Arg13Trp) rs373503267 0.00001
NM_000553.6(WRN):c.3836G>A (p.Ser1279Asn) rs767033541 0.00001
NM_000553.6(WRN):c.3854T>G (p.Met1285Arg) rs371799306 0.00001
NM_000553.6(WRN):c.3859A>G (p.Ile1287Val) rs757172649 0.00001
NM_000553.6(WRN):c.3886A>G (p.Lys1296Glu) rs1354326118 0.00001
NM_000553.6(WRN):c.3899C>T (p.Pro1300Leu) rs533336892 0.00001
NM_000553.6(WRN):c.389A>G (p.Asn130Ser) rs1373932201 0.00001
NM_000553.6(WRN):c.3914G>A (p.Arg1305Gln) rs775535952 0.00001
NM_000553.6(WRN):c.394G>A (p.Ala132Thr) rs951969651 0.00001
NM_000553.6(WRN):c.395C>G (p.Ala132Gly) rs867641943 0.00001
NM_000553.6(WRN):c.3967C>G (p.Pro1323Ala) rs1432145187 0.00001
NM_000553.6(WRN):c.3973G>A (p.Val1325Ile) rs756510312 0.00001
NM_000553.6(WRN):c.3983-3C>T rs1409057375 0.00001
NM_000553.6(WRN):c.3986T>C (p.Met1329Thr) rs755711042 0.00001
NM_000553.6(WRN):c.3989G>A (p.Ser1330Asn) rs778162176 0.00001
NM_000553.6(WRN):c.4027A>G (p.Ile1343Val) rs1060500058 0.00001
NM_000553.6(WRN):c.4034C>A (p.Thr1345Lys) rs759390217 0.00001
NM_000553.6(WRN):c.4054A>G (p.Ile1352Val) rs368551262 0.00001
NM_000553.6(WRN):c.406G>A (p.Ala136Thr) rs17847582 0.00001
NM_000553.6(WRN):c.4070A>G (p.His1357Arg) rs765518421 0.00001
NM_000553.6(WRN):c.4084G>A (p.Gly1362Arg) rs780229859 0.00001
NM_000553.6(WRN):c.4085G>A (p.Gly1362Glu) rs372005303 0.00001
NM_000553.6(WRN):c.4102G>A (p.Asp1368Asn) rs1163698357 0.00001
NM_000553.6(WRN):c.4139A>G (p.Glu1380Gly) rs763538154 0.00001
NM_000553.6(WRN):c.4148C>G (p.Ser1383Ter) rs1060500080 0.00001
NM_000553.6(WRN):c.4159A>G (p.Arg1387Gly) rs930878657 0.00001
NM_000553.6(WRN):c.4165A>G (p.Lys1389Glu) rs587778751 0.00001
NM_000553.6(WRN):c.4171G>A (p.Glu1391Lys) rs1418607116 0.00001
NM_000553.6(WRN):c.4172A>G (p.Glu1391Gly) rs1426646860 0.00001
NM_000553.6(WRN):c.4191+1G>A rs1279354218 0.00001
NM_000553.6(WRN):c.4191+3A>G rs1554538695 0.00001
NM_000553.6(WRN):c.4193C>T (p.Thr1398Ile) rs752795658 0.00001
NM_000553.6(WRN):c.421G>A (p.Glu141Lys) rs769317785 0.00001
NM_000553.6(WRN):c.4228T>C (p.Trp1410Arg) rs768558349 0.00001
NM_000553.6(WRN):c.4229G>T (p.Trp1410Leu) rs780718250 0.00001
NM_000553.6(WRN):c.4240G>C (p.Gly1414Arg) rs747685773 0.00001
NM_000553.6(WRN):c.4243A>G (p.Ser1415Gly) rs1436508029 0.00001
NM_000553.6(WRN):c.4256A>C (p.Lys1419Thr) rs771261660 0.00001
NM_000553.6(WRN):c.4296T>G (p.Ser1432Arg) rs1457681720 0.00001
NM_000553.6(WRN):c.435G>T (p.Trp145Cys) rs1323704066 0.00001
NM_000553.6(WRN):c.443T>A (p.Leu148Gln) rs587778753 0.00001
NM_000553.6(WRN):c.445C>T (p.Arg149Cys) rs752693894 0.00001
NM_000553.6(WRN):c.457A>G (p.Ile153Val) rs916722009 0.00001
NM_000553.6(WRN):c.479A>C (p.Glu160Ala) rs1250439426 0.00001
NM_000553.6(WRN):c.487G>T (p.Asp163Tyr) rs368717487 0.00001
NM_000553.6(WRN):c.497A>G (p.Asn166Ser) rs772797243 0.00001
NM_000553.6(WRN):c.500A>G (p.Lys167Arg) rs1812642614 0.00001
NM_000553.6(WRN):c.515C>A (p.Thr172Lys) rs777437332 0.00001
NM_000553.6(WRN):c.521C>G (p.Thr174Ser) rs1318427246 0.00001
NM_000553.6(WRN):c.530T>G (p.Leu177Arg) rs1163536338 0.00001
NM_000553.6(WRN):c.547C>T (p.His183Tyr) rs1167429690 0.00001
NM_000553.6(WRN):c.583A>G (p.Ile195Val) rs371736282 0.00001
NM_000553.6(WRN):c.58A>G (p.Asn20Asp) rs1233624462 0.00001
NM_000553.6(WRN):c.601A>G (p.Ser201Gly) rs767516095 0.00001
NM_000553.6(WRN):c.602G>A (p.Ser201Asn) rs1812738957 0.00001
NM_000553.6(WRN):c.608T>A (p.Phe203Tyr) rs1307793327 0.00001
NM_000553.6(WRN):c.613C>G (p.Leu205Val) rs756050193 0.00001
NM_000553.6(WRN):c.619G>C (p.Glu207Gln) rs777311042 0.00001
NM_000553.6(WRN):c.61G>A (p.Val21Met) rs1368307834 0.00001
NM_000553.6(WRN):c.654+3A>G rs907937476 0.00001
NM_000553.6(WRN):c.655-20A>G rs1056118121 0.00001
NM_000553.6(WRN):c.676A>C (p.Asn226His) rs143088402 0.00001
NM_000553.6(WRN):c.68A>G (p.Asn23Ser) rs1332328134 0.00001
NM_000553.6(WRN):c.700G>C (p.Val234Leu) rs769291583 0.00001
NM_000553.6(WRN):c.725-3del rs778493200 0.00001
NM_000553.6(WRN):c.748A>G (p.Met250Val) rs767793936 0.00001
NM_000553.6(WRN):c.753C>G (p.Asn251Lys) rs1043742771 0.00001
NM_000553.6(WRN):c.755A>G (p.Lys252Arg) rs1060500077 0.00001
NM_000553.6(WRN):c.794C>G (p.Ala265Gly) rs1398715893 0.00001
NM_000553.6(WRN):c.806C>T (p.Pro269Leu) rs1389146631 0.00001
NM_000553.6(WRN):c.817A>G (p.Ser273Gly) rs1813090219 0.00001
NM_000553.6(WRN):c.830A>C (p.Asn277Thr) rs749379604 0.00001
NM_000553.6(WRN):c.878A>G (p.Tyr293Cys) rs868800821 0.00001
NM_000553.6(WRN):c.905C>T (p.Ser302Phe) rs754329517 0.00001
NM_000553.6(WRN):c.907A>G (p.Thr303Ala) rs1585427586 0.00001
NM_000553.6(WRN):c.919A>T (p.Thr307Ser) rs1002222882 0.00001
NM_000553.6(WRN):c.956C>A (p.Ser319Tyr) rs1001988186 0.00001
NM_000553.6(WRN):c.96+4T>C rs749390862 0.00001
NM_000553.6(WRN):c.97-6C>G rs1395618077 0.00001
NM_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_000601.6(HGF):c.6G>T (p.Trp2Cys) rs745851853 0.00001
NM_000760.4(CSF3R):c.*161G>A rs772443391 0.00001
NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln) rs140159756 0.00001
NM_000760.4(CSF3R):c.1216G>A (p.Val406Met) rs1364558879 0.00001
NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg) rs779227407 0.00001
NM_000760.4(CSF3R):c.1324C>G (p.Pro442Ala) rs1260196968 0.00001
NM_000760.4(CSF3R):c.1378G>A (p.Val460Met) rs758904378 0.00001
NM_000760.4(CSF3R):c.1456A>G (p.Thr486Ala) rs767301627 0.00001
NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His) rs1180227540 0.00001
NM_000760.4(CSF3R):c.160C>T (p.His54Tyr) rs371768579 0.00001
NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg) rs763748002 0.00001
NM_000760.4(CSF3R):c.163C>G (p.Leu55Val) rs1651085213 0.00001
NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu) rs746657668 0.00001
NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala) rs1650440390 0.00001
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) rs750968883 0.00001
NM_000760.4(CSF3R):c.1828A>C (p.Asn610His) rs1014131377 0.00001
NM_000760.4(CSF3R):c.1864+6G>A rs1374999733 0.00001
NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser) rs201699446 0.00001
NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) rs776535279 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) rs1382959301 0.00001
NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg) rs1375728977 0.00001
NM_000760.4(CSF3R):c.230G>A (p.Arg77His) rs761404285 0.00001
NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn) rs567871402 0.00001
NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln) rs1332794856 0.00001
NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly) rs149231790 0.00001
NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) rs147091245 0.00001
NM_000760.4(CSF3R):c.40C>G (p.Leu14Val) rs752051152 0.00001
NM_000760.4(CSF3R):c.437C>T (p.Pro146Leu) rs1455346222 0.00001
NM_000760.4(CSF3R):c.461C>T (p.Thr154Ile) rs1483194095 0.00001
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln) rs754336092 0.00001
NM_000760.4(CSF3R):c.623C>T (p.Ala208Val) rs372288734 0.00001
NM_000760.4(CSF3R):c.686C>A (p.Pro229His) rs764202764 0.00001
NM_000760.4(CSF3R):c.782A>G (p.His261Arg) rs1650841565 0.00001
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) rs759364352 0.00001
NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly) rs376634675 0.00001
NM_000760.4(CSF3R):c.971G>A (p.Ser324Asn) rs772453466 0.00001
NM_000760.4(CSF3R):c.994C>T (p.Arg332Trp) rs112400536 0.00001
NM_000782.5(CYP24A1):c.*1095C>G rs886056780 0.00001
NM_000782.5(CYP24A1):c.*217A>G rs922900713 0.00001
NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu) rs189801930 0.00001
NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr) rs1475780594 0.00001
NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser) rs776627911 0.00001
NM_000782.5(CYP24A1):c.376C>T (p.Pro126Ser) rs148084028 0.00001
NM_000782.5(CYP24A1):c.732+7A>T rs532499456 0.00001
NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) rs373902459 0.00001
NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser) rs1413437455 0.00001
NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe) rs1238041646 0.00001
NM_000782.5(CYP24A1):c.990+3A>G rs762830804 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1017+4C>T rs763008570 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val) rs1201499588 0.00001
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr) rs1201958431 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 0.00001
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) rs765660985 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) rs1480110004 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) rs767162764 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) rs370013480 0.00001
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) rs143844199 0.00001
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys) rs374507635 0.00001
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 0.00001
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) rs1298533109 0.00001
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) rs1243753558 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) rs1203579586 0.00001
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) rs1045858420 0.00001
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) rs375643077 0.00001
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) rs757653354 0.00001
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 0.00001
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys) rs192494481 0.00001
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala) rs1271066819 0.00001
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) rs1274003022 0.00001
NM_000784.4(CYP27A1):c.845-3C>T rs768674577 0.00001
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn) rs958713867 0.00001
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) rs371056722 0.00001
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter) rs564438017 0.00001
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_001009894.3(RLIG1):c.*1008T>C rs762987255 0.00001
NM_001009894.3(RLIG1):c.*611A>G rs2033206514 0.00001
NM_001013693.3(LDLRAD2):c.*451C>T rs927771131 0.00001
NM_001013838.3(CARMIL2):c.926T>C (p.Leu309Pro) rs758192470 0.00001
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=) rs587783623 0.00001
NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys) rs199638838 0.00001
NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln) rs754433579 0.00001
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969 0.00001
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) rs184200865 0.00001
NM_001023570.4(IQCB1):c.*160C>T rs1490063473 0.00001
NM_001023570.4(IQCB1):c.*327T>C rs777172993 0.00001
NM_001023570.4(IQCB1):c.*399A>G rs1466189762 0.00001
NM_001023570.4(IQCB1):c.-179G>A rs1449304531 0.00001
NM_001023570.4(IQCB1):c.1040A>T (p.Asp347Val) rs1362995395 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1279-16A>G rs754160972 0.00001
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val) rs150129899 0.00001
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) rs766072332 0.00001
NM_001023570.4(IQCB1):c.1406A>G (p.His469Arg) rs898997712 0.00001
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) rs764720012 0.00001
NM_001023570.4(IQCB1):c.1447C>G (p.His483Asp) rs746090954 0.00001
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) rs200367729 0.00001
NM_001023570.4(IQCB1):c.1550A>G (p.Asn517Ser) rs774106373 0.00001
NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile) rs1484442908 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.1573C>A (p.Pro525Thr) rs1445502603 0.00001
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) rs1390983530 0.00001
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) rs542335278 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.215G>A (p.Arg72Gln) rs777328728 0.00001
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) rs370233738 0.00001
NM_001023570.4(IQCB1):c.281T>G (p.Leu94Trp) rs1482031301 0.00001
NM_001023570.4(IQCB1):c.369A>C (p.Gln123His) rs970350621 0.00001
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro) rs1949717977 0.00001
NM_001023570.4(IQCB1):c.514T>A (p.Leu172Ile) rs139516260 0.00001
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) rs1272185942 0.00001
NM_001023570.4(IQCB1):c.539T>C (p.Ile180Thr) rs1336635253 0.00001
NM_001023570.4(IQCB1):c.622T>C (p.Tyr208His) rs1373905023 0.00001
NM_001023570.4(IQCB1):c.636T>G (p.Asp212Glu) rs202164315 0.00001
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) rs1278873318 0.00001
NM_001023570.4(IQCB1):c.761A>G (p.Tyr254Cys) rs1484417223 0.00001
NM_001023570.4(IQCB1):c.766+5T>C rs941589350 0.00001
NM_001023570.4(IQCB1):c.767-9C>A rs758067297 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001023570.4(IQCB1):c.850A>G (p.Met284Val) rs148569732 0.00001
NM_001023570.4(IQCB1):c.853G>T (p.Val285Phe) rs1467393686 0.00001
NM_001023570.4(IQCB1):c.86T>C (p.Leu29Pro) rs760120237 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe) rs1246747991 0.00001
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) rs749043070 0.00001
NM_001023570.4(IQCB1):c.980G>A (p.Ser327Asn) rs377493667 0.00001
NM_001038603.3(MARVELD2):c.*184C>T rs886060736 0.00001
NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=) rs753543276 0.00001
NM_001038603.3(MARVELD2):c.1562C>A (p.Thr521Lys) rs750561732 0.00001
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) rs199708957 0.00001
NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His) rs374313745 0.00001
NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His) rs146516550 0.00001
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) rs750498327 0.00001
NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met) rs776527204 0.00001
NM_001039958.2(MESP2):c.*10G>A rs1407551013 0.00001
NM_001039958.2(MESP2):c.*229T>C rs543644563 0.00001
NM_001039958.2(MESP2):c.*50G>A rs755600035 0.00001
NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu) rs564292487 0.00001
NM_001039958.2(MESP2):c.1080C>T (p.Ala360=) rs762014488 0.00001
NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter) rs1317833419 0.00001
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr) rs1319032121 0.00001
NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg) rs764972465 0.00001
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter) rs766664800 0.00001
NM_001040167.2(LFNG):c.287C>G (p.Pro96Arg) rs1468105982 0.00001
NM_001040167.2(LFNG):c.308C>T (p.Pro103Leu) rs747331172 0.00001
NM_001040167.2(LFNG):c.369A>C (p.Lys123Asn) rs1779752729 0.00001
NM_001040167.2(LFNG):c.527C>T (p.Ala176Val) rs376234607 0.00001
NM_001040167.2(LFNG):c.547G>A (p.Val183Met) rs527357436 0.00001
NM_001040167.2(LFNG):c.560G>A (p.Arg187His) rs372894218 0.00001
NM_001040167.2(LFNG):c.643G>A (p.Ala215Thr) rs1160316709 0.00001
NM_001040167.2(LFNG):c.766G>A (p.Gly256Ser) rs1437427476 0.00001
NM_001040167.2(LFNG):c.812C>T (p.Pro271Leu) rs763392875 0.00001
NM_001040167.2(LFNG):c.842C>T (p.Thr281Met) rs760970272 0.00001
NM_001040167.2(LFNG):c.987G>A (p.Gln329=) rs1779976779 0.00001
NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser) rs576126444 0.00001
NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn) rs1567718073 0.00001
NM_001042472.3(ABHD12):c.*149G>A rs1013194735 0.00001
NM_001042472.3(ABHD12):c.*177C>T rs889909532 0.00001
NM_001042472.3(ABHD12):c.*377C>T rs886056562 0.00001
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly) rs1007058021 0.00001
NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val) rs760720412 0.00001
NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val) rs776224682 0.00001
NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln) rs1182010524 0.00001
NM_001042472.3(ABHD12):c.836G>A (p.Arg279His) rs180761451 0.00001
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln) rs771187489 0.00001
NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg) rs375661124 0.00001
NM_001042545.2(LTBP4):c.*25C>T rs1284761820 0.00001
NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=) rs745624027 0.00001
NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu) rs886054447 0.00001
NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=) rs2303726 0.00001
NM_001042545.2(LTBP4):c.302G>A (p.Arg101His) rs762286016 0.00001
NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly) rs562892147 0.00001
NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu) rs531174154 0.00001
NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser) rs771378692 0.00001
NM_001042545.2(LTBP4):c.864C>T (p.Cys288=) rs758784148 0.00001
NM_001042702.5(PJVK):c.-232A>G rs1351130857 0.00001
NM_001042702.5(PJVK):c.-283C>G rs886055206 0.00001
NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln) rs760036509 0.00001
NM_001042702.5(PJVK):c.778A>G (p.Met260Val) rs201237972 0.00001
NM_001044385.3(TMEM237):c.*1330C>T rs1016616892 0.00001
NM_001044385.3(TMEM237):c.*1378A>G rs886055443 0.00001
NM_001044385.3(TMEM237):c.*1561G>A rs563393191 0.00001
NM_001044385.3(TMEM237):c.*1603T>G rs886055442 0.00001
NM_001044385.3(TMEM237):c.*1835C>T rs1414626161 0.00001
NM_001044385.3(TMEM237):c.*1965G>A rs947203821 0.00001
NM_001044385.3(TMEM237):c.*2044T>C rs886055440 0.00001
NM_001044385.3(TMEM237):c.*2495C>G rs1459433205 0.00001
NM_001044385.3(TMEM237):c.*3997A>G rs1387630894 0.00001
NM_001044385.3(TMEM237):c.*3C>A rs749132259 0.00001
NM_001044385.3(TMEM237):c.-59G>A rs886055449 0.00001
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu) rs1559590115 0.00001
NM_001044385.3(TMEM237):c.1038-6T>G rs758523904 0.00001
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp) rs747158935 0.00001
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val) rs1437714395 0.00001
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys) rs373445814 0.00001
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=) rs747915597 0.00001
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp) rs779250127 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val) rs759392151 0.00001
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val) rs772680401 0.00001
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser) rs750312169 0.00001
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala) rs184256195 0.00001
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu) rs771052304 0.00001
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) rs762678333 0.00001
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=) rs754056989 0.00001
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His) rs186216206 0.00001
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro) rs373956551 0.00001
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr) rs773685442 0.00001
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg) rs749330370 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser) rs769694232 0.00001
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met) rs759814109 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00001
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) rs773512396 0.00001
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys) rs1209527419 0.00001
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln) rs745540263 0.00001
NM_001044385.3(TMEM237):c.943+5G>A rs779322966 0.00001
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His) rs576586379 0.00001
NM_001048166.1(STIL):c.*2C>T rs747809307 0.00001
NM_001048166.1(STIL):c.-88C>T rs886046394 0.00001
NM_001048166.1(STIL):c.1140C>T (p.Ser380=) rs183263043 0.00001
NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr) rs888258532 0.00001
NM_001048166.1(STIL):c.1576T>G (p.Ser526Ala) rs973053655 0.00001
NM_001048166.1(STIL):c.1635T>G (p.Asn545Lys) rs770972789 0.00001
NM_001048166.1(STIL):c.1699C>T (p.Pro567Ser) rs778747630 0.00001
NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu) rs754626458 0.00001
NM_001048166.1(STIL):c.1847C>T (p.Pro616Leu) rs754788714 0.00001
NM_001048166.1(STIL):c.2087A>T (p.Asn696Ile) rs886046390 0.00001
NM_001048166.1(STIL):c.2453C>G (p.Thr818Ser) rs1235348126 0.00001
NM_001048166.1(STIL):c.2542G>A (p.Val848Ile) rs587784449 0.00001
NM_001048166.1(STIL):c.25C>T (p.Arg9Trp) rs762659511 0.00001
NM_001048166.1(STIL):c.265+14A>T rs772413402 0.00001
NM_001048166.1(STIL):c.2687G>T (p.Ser896Ile) rs745904390 0.00001
NM_001048166.1(STIL):c.2847A>G (p.Leu949=) rs766451599 0.00001
NM_001048166.1(STIL):c.3207T>C (p.Ala1069=) rs778016364 0.00001
NM_001048166.1(STIL):c.3637dup (p.Thr1213fs) rs1225063106 0.00001
NM_001048166.1(STIL):c.36G>A (p.Met12Ile) rs587784451 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048166.1(STIL):c.454-10G>A rs1045195933 0.00001
NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys) rs151316420 0.00001
NM_001048174.2(MUTYH):c.1012C>T (p.Pro338Ser) rs267598622 0.00001
NM_001048174.2(MUTYH):c.1015C>G (p.Pro339Ala) rs876660262 0.00001
NM_001048174.2(MUTYH):c.1019G>C (p.Arg340Thr) rs1060501340 0.00001
NM_001048174.2(MUTYH):c.1031C>G (p.Ser344Cys) rs763862261 0.00001
NM_001048174.2(MUTYH):c.1037C>T (p.Thr346Ile) rs1553126467 0.00001
NM_001048174.2(MUTYH):c.1040G>C (p.Cys347Ser) rs1570382822 0.00001
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp) rs587778539 0.00001
NM_001048174.2(MUTYH):c.1078C>G (p.Leu360Val) rs1249171431 0.00001
NM_001048174.2(MUTYH):c.110G>A (p.Cys37Tyr) rs1476095647 0.00001
NM_001048174.2(MUTYH):c.112G>A (p.Asp38Asn) rs1245520779 0.00001
NM_001048174.2(MUTYH):c.1135G>A (p.Val379Met) rs876660539 0.00001
NM_001048174.2(MUTYH):c.1144G>A (p.Glu382Lys) rs587782690 0.00001
NM_001048174.2(MUTYH):c.115+6G>C rs377223870 0.00001
NM_001048174.2(MUTYH):c.1150T>C (p.Ser384Pro) rs1557461219 0.00001
NM_001048174.2(MUTYH):c.1151C>T (p.Ser384Leu) rs587781533 0.00001
NM_001048174.2(MUTYH):c.117C>T (p.Gly39=) rs1557487475 0.00001
NM_001048174.2(MUTYH):c.1199C>T (p.Ala400Val) rs1060501326 0.00001
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met) rs587780084 0.00001
NM_001048174.2(MUTYH):c.1222C>G (p.Leu408Val) rs587782043 0.00001
NM_001048174.2(MUTYH):c.1235G>A (p.Gly412Glu) rs1557458862 0.00001
NM_001048174.2(MUTYH):c.1246C>T (p.His416Tyr) rs1475410456 0.00001
NM_001048174.2(MUTYH):c.1247A>G (p.His416Arg) rs144309934 0.00001
NM_001048174.2(MUTYH):c.1262T>G (p.Ile421Ser) rs767996570 0.00001
NM_001048174.2(MUTYH):c.1276C>G (p.Gln426Glu) rs769152217 0.00001
NM_001048174.2(MUTYH):c.128A>G (p.Gln43Arg) rs767237971 0.00001
NM_001048174.2(MUTYH):c.1310C>T (p.Pro437Leu) rs876660697 0.00001
NM_001048174.2(MUTYH):c.131C>T (p.Pro44Leu) rs759140181 0.00001
NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys) rs767747402 0.00001
NM_001048174.2(MUTYH):c.1397T>C (p.Phe466Ser) rs1394044603 0.00001
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) rs587780085 0.00001
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His) rs587782794 0.00001
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly) rs876659488 0.00001
NM_001048174.2(MUTYH):c.1439C>A (p.Ser480Tyr) rs1161972119 0.00001
NM_001048174.2(MUTYH):c.1448C>T (p.Ser483Phe) rs796921537 0.00001
NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu) rs780209880 0.00001
NM_001048174.2(MUTYH):c.1468A>C (p.Ser490Arg) rs1380281188 0.00001
NM_001048174.2(MUTYH):c.1471C>T (p.Arg491Trp) rs754364718 0.00001
NM_001048174.2(MUTYH):c.1484G>A (p.Arg495His) rs374655042 0.00001
NM_001048174.2(MUTYH):c.1531A>G (p.Thr511Ala) rs151196169 0.00001
NM_001048174.2(MUTYH):c.1534G>A (p.Asp512Asn) rs1439243449 0.00001
NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val) rs751053826 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.1565G>C (p.Ter522Ser) rs1308516608 0.00001
NM_001048174.2(MUTYH):c.160T>C (p.Ser54Pro) rs773198648 0.00001
NM_001048174.2(MUTYH):c.161C>A (p.Ser54Tyr) rs876658645 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001048174.2(MUTYH):c.203T>C (p.Phe68Ser) rs750954949 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001048174.2(MUTYH):c.217C>G (p.Leu73Val) rs759170125 0.00001
NM_001048174.2(MUTYH):c.251C>T (p.Pro84Leu) rs1217742466 0.00001
NM_001048174.2(MUTYH):c.259A>G (p.Arg87Gly) rs950856923 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001048174.2(MUTYH):c.292C>T (p.Arg98Trp) rs587782041 0.00001
NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln) rs587781444 0.00001
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr) rs201163858 0.00001
NM_001048174.2(MUTYH):c.305-7C>A rs863224698 0.00001
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile) rs763273196 0.00001
NM_001048174.2(MUTYH):c.31G>A (p.Gly11Ser) rs764645557 0.00001
NM_001048174.2(MUTYH):c.362A>G (p.Tyr121Cys) rs1221837292 0.00001
NM_001048174.2(MUTYH):c.367G>A (p.Gly123Arg) rs587782165 0.00001
NM_001048174.2(MUTYH):c.375G>T (p.Met125Ile) rs1060501328 0.00001
NM_001048174.2(MUTYH):c.381G>T (p.Lys127Asn) rs878854190 0.00001
NM_001048174.2(MUTYH):c.389C>T (p.Thr130Ile) rs771549068 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.413C>T (p.Ser138Phe) rs587780087 0.00001
NM_001048174.2(MUTYH):c.421-12T>G rs890418965 0.00001
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp) rs773674701 0.00001
NM_001048174.2(MUTYH):c.429T>A (p.Asn143Lys) rs864622242 0.00001
NM_001048174.2(MUTYH):c.467G>A (p.Arg156Gln) rs758567247 0.00001
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln) rs533899702 0.00001
NM_001048174.2(MUTYH):c.478G>A (p.Glu160Lys) rs1428261191 0.00001
NM_001048174.2(MUTYH):c.492+6G>C rs762573043 0.00001
NM_001048174.2(MUTYH):c.492G>A (p.Lys164=) rs876660092 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.499G>A (p.Glu167Lys) rs1384803634 0.00001
NM_001048174.2(MUTYH):c.519G>T (p.Met173Ile) rs1172521297 0.00001
NM_001048174.2(MUTYH):c.524G>A (p.Arg175His) rs538383136 0.00001
NM_001048174.2(MUTYH):c.547C>T (p.Leu183Phe) rs876660154 0.00001
NM_001048174.2(MUTYH):c.554C>T (p.Pro185Leu) rs1645143512 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.56A>C (p.Gln19Pro) rs863224701 0.00001
NM_001048174.2(MUTYH):c.592A>G (p.Ile198Val) rs200965879 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001048174.2(MUTYH):c.601G>A (p.Gly201Ser) rs371102235 0.00001
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp) rs752114814 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr) rs774237159 0.00001
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val) rs369120013 0.00001
NM_001048174.2(MUTYH):c.656G>A (p.Arg219Gln) rs777335285 0.00001
NM_001048174.2(MUTYH):c.674C>G (p.Pro225Arg) rs564919438 0.00001
NM_001048174.2(MUTYH):c.67C>G (p.Gln23Glu) rs1270853129 0.00001
NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile) rs766173546 0.00001
NM_001048174.2(MUTYH):c.686T>G (p.Leu229Arg) rs112422930 0.00001
NM_001048174.2(MUTYH):c.706G>A (p.Gly236Ser) rs1328890188 0.00001
NM_001048174.2(MUTYH):c.713C>G (p.Ala238Gly) rs750344996 0.00001
NM_001048174.2(MUTYH):c.724G>A (p.Val242Met) rs765046399 0.00001
NM_001048174.2(MUTYH):c.73C>T (p.His25Tyr) rs1553131429 0.00001
NM_001048174.2(MUTYH):c.758C>T (p.Ala253Val) rs1060501329 0.00001
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val) rs587782764 0.00001
NM_001048174.2(MUTYH):c.766G>C (p.Glu256Gln) rs141280536 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.820G>T (p.Val274Leu) rs760889663 0.00001
NM_001048174.2(MUTYH):c.823G>A (p.Glu275Lys) rs752934398 0.00001
NM_001048174.2(MUTYH):c.825G>T (p.Glu275Asp) rs863224700 0.00001
NM_001048174.2(MUTYH):c.828C>G (p.Ser276Arg) rs767805597 0.00001
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp) rs759822330 0.00001
NM_001048174.2(MUTYH):c.842G>A (p.Arg281His) rs587782727 0.00001
NM_001048174.2(MUTYH):c.84C>A (p.Asn28Lys) rs200514222 0.00001
NM_001048174.2(MUTYH):c.869T>C (p.Leu290Ser) rs1362124228 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.911G>A (p.Cys304Tyr) rs1553127256 0.00001
NM_001048174.2(MUTYH):c.923C>T (p.Thr308Ile) rs876659790 0.00001
NM_001048174.2(MUTYH):c.926G>A (p.Gly309Glu) rs1553127007 0.00001
NM_001048174.2(MUTYH):c.949C>T (p.Pro317Ser) rs1377976805 0.00001
NM_001048174.2(MUTYH):c.959C>T (p.Pro320Leu) rs780178101 0.00001
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser) rs754178539 0.00001
NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu) rs587781601 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 0.00001
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser) rs1353274622 0.00001
NM_001077365.2(POMT1):c.1063A>G (p.Ile355Val) rs749853448 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile) rs943420374 0.00001
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) rs1386572159 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del) rs763262424 0.00001
NM_001077365.2(POMT1):c.1505G>A (p.Arg502Gln) rs1174599967 0.00001
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser) rs1471379936 0.00001
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) rs1018748368 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 0.00001
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427 0.00001
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met) rs767241035 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270 0.00001
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu) rs199552424 0.00001
NM_001077365.2(POMT1):c.499G>A (p.Val167Met) rs757875244 0.00001
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn) rs1439661209 0.00001
NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg) rs779386306 0.00001
NM_001077365.2(POMT1):c.539+3A>G rs780457748 0.00001
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile) rs1344992449 0.00001
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys) rs1312643563 0.00001
NM_001077365.2(POMT1):c.650T>G (p.Val217Gly) rs1364769689 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+32C>T rs201225383 0.00001
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val) rs374335795 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile) rs771234098 0.00001
NM_001077365.2(POMT1):c.908C>T (p.Ser303Phe) rs1415622281 0.00001
NM_001077365.2(POMT1):c.917C>T (p.Thr306Ile) rs1377535146 0.00001
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) rs1428763564 0.00001
NM_001077418.2(TMEM231):c.-44C>A rs1419518232 0.00001
NM_001077418.3(TMEM231):c.-12C>G rs745498623 0.00001
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521 0.00001
NM_001077418.3(TMEM231):c.139+23G>A rs770598456 0.00001
NM_001077418.3(TMEM231):c.139+25C>T rs1474874368 0.00001
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg) rs766492182 0.00001
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val) rs1309156955 0.00001
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) rs759954710 0.00001
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg) rs1255071095 0.00001
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) rs1202833405 0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val) rs750935858 0.00001
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser) rs566395744 0.00001
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) rs778407563 0.00001
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg) rs763194213 0.00001
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met) rs745485432 0.00001
NM_001077418.3(TMEM231):c.665-3C>T rs780063686 0.00001
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile) rs746055228 0.00001
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189 0.00001
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=) rs746685376 0.00001
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu) rs1230743826 0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val) rs768632156 0.00001
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln) rs746970206 0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=) rs1435643293 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) rs754414354 0.00001
NM_001079866.2(BCS1L):c.985A>G (p.Met329Val) rs779805975 0.00001
NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala) rs1014956719 0.00001
NM_001080476.3(GRXCR1):c.*6G>T rs1344018880 0.00001
NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu) rs529420082 0.00001
NM_001080510.5(METTL23):c.407+6T>C rs1373087430 0.00001
NM_001080522.2(CC2D2A):c.*144A>C rs920755267 0.00001
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001083961.2(WDR62):c.1238A>T (p.Tyr413Phe) rs1265156638 0.00001
NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp) rs587784544 0.00001
NM_001083961.2(WDR62):c.1642+9G>A rs112789274 0.00001
NM_001083961.2(WDR62):c.1709A>G (p.Tyr570Cys) rs761202940 0.00001
NM_001083961.2(WDR62):c.1837-12C>T rs773051177 0.00001
NM_001083961.2(WDR62):c.2000A>G (p.Lys667Arg) rs765613365 0.00001
NM_001083961.2(WDR62):c.2237C>T (p.Pro746Leu) rs140864528 0.00001
NM_001083961.2(WDR62):c.2334-13T>C rs766014038 0.00001
NM_001083961.2(WDR62):c.3161C>G (p.Pro1054Arg) rs777428608 0.00001
NM_001083961.2(WDR62):c.3336-5C>G rs587784555 0.00001
NM_001083961.2(WDR62):c.3356C>T (p.Pro1119Leu) rs886054360 0.00001
NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met) rs587784557 0.00001
NM_001083961.2(WDR62):c.4266C>T (p.His1422=) rs886054362 0.00001
NM_001083961.2(WDR62):c.4339G>A (p.Gly1447Arg) rs769860430 0.00001
NM_001083961.2(WDR62):c.481G>A (p.Val161Met) rs1036466930 0.00001
NM_001083961.2(WDR62):c.700-17G>A rs767694830 0.00001
NM_001083961.2(WDR62):c.892T>C (p.Ser298Pro) rs762909874 0.00001
NM_001085429.2(TMEM213):c.-56G>A rs759971982 0.00001
NM_001085429.2(TMEM213):c.-57C>T rs1347414244 0.00001
NM_001085429.2(TMEM213):c.82+8T>C rs369402164 0.00001
NM_001098484.3(SLC4A4):c.*1184T>C rs1578205840 0.00001
NM_001098484.3(SLC4A4):c.*1407A>C rs886059603 0.00001
NM_001098484.3(SLC4A4):c.*1536T>G rs192465453 0.00001
NM_001098484.3(SLC4A4):c.*1627A>T rs1465519762 0.00001
NM_001098484.3(SLC4A4):c.*2002C>A rs886059609 0.00001
NM_001098484.3(SLC4A4):c.*2172A>G rs1196015939 0.00001
NM_001098484.3(SLC4A4):c.*2863C>T rs953855379 0.00001
NM_001098484.3(SLC4A4):c.*286A>G rs531414310 0.00001
NM_001098484.3(SLC4A4):c.*3712T>C rs886059617 0.00001
NM_001098484.3(SLC4A4):c.*695C>G rs1737689045 0.00001
NM_001098484.3(SLC4A4):c.*708C>A rs886059600 0.00001
NM_001098484.3(SLC4A4):c.1257G>A (p.Thr419=) rs201149572 0.00001
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe) rs202236628 0.00001
NM_001098484.3(SLC4A4):c.3213A>G (p.Thr1071=) rs770868684 0.00001
NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met) rs748205618 0.00001
NM_001098484.3(SLC4A4):c.965+11C>T rs550285672 0.00001
NM_001099287.1(NIPAL4):c.-121C>A rs1391976192 0.00001
NM_001099287.2(NIPAL4):c.*1394A>G rs886060347 0.00001
NM_001099287.2(NIPAL4):c.*568_*572dup rs886060343 0.00001
NM_001099287.2(NIPAL4):c.-71G>A rs759546301 0.00001
NM_001099287.2(NIPAL4):c.1103C>T (p.Pro368Leu) rs371714489 0.00001
NM_001099287.2(NIPAL4):c.253G>A (p.Val85Met) rs758037159 0.00001
NM_001099287.2(NIPAL4):c.265G>A (p.Ala89Thr) rs373963950 0.00001
NM_001099287.2(NIPAL4):c.311T>C (p.Met104Thr) rs748570297 0.00001
NM_001099287.2(NIPAL4):c.657C>T (p.Tyr219=) rs753530888 0.00001
NM_001099287.2(NIPAL4):c.990G>A (p.Ser330=) rs777285586 0.00001
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys) rs774852908 0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429 0.00001
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys) rs1325845862 0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.1251+2T>C rs370373583 0.00001
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys) rs985567350 0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) rs886044370 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro) rs886043286 0.00001
NM_001101426.4(CRPPA):c.139G>A (p.Val47Met) rs886043960 0.00001
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291 0.00001
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489 0.00001
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val) rs886043573 0.00001
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu) rs751704613 0.00001
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile) rs1190661385 0.00001
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg) rs373082181 0.00001
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys) rs764542382 0.00001
NM_001101426.4(CRPPA):c.37G>A (p.Glu13Lys) rs1403508868 0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val) rs769346091 0.00001
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala) rs747435762 0.00001
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val) rs1330602558 0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile) rs757165158 0.00001
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) rs920749386 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His) rs1210618248 0.00001
NM_001101426.4(CRPPA):c.685-3C>T rs776027620 0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) rs778786691 0.00001
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro) rs794726893 0.00001
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln) rs757986706 0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) rs761189549 0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) rs1562603563 0.00001
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg) rs1345477841 0.00001
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro) rs747622460 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg) rs555932095 0.00001
NM_001101426.4(CRPPA):c.95T>C (p.Leu32Pro) rs1020950940 0.00001
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met) rs1783720553 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001111.5(ADAR):c.1006G>T (p.Asp336Tyr) rs763575197 0.00001
NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr) rs750785381 0.00001
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu) rs763695856 0.00001
NM_001111.5(ADAR):c.1062T>G (p.His354Gln) rs767103774 0.00001
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg) rs770795921 0.00001
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) rs1190740301 0.00001
NM_001111.5(ADAR):c.1207A>G (p.Met403Val) rs762748379 0.00001
NM_001111.5(ADAR):c.1315A>G (p.Asn439Asp) rs1040011158 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.1457G>T (p.Gly486Val) rs1275238356 0.00001
NM_001111.5(ADAR):c.1556G>A (p.Cys519Tyr) rs1404371210 0.00001
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly) rs374014885 0.00001
NM_001111.5(ADAR):c.1843C>T (p.Pro615Ser) rs1179154225 0.00001
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049 0.00001
NM_001111.5(ADAR):c.1898G>A (p.Arg633His) rs748307559 0.00001
NM_001111.5(ADAR):c.1960G>A (p.Ala654Thr) rs1203975739 0.00001
NM_001111.5(ADAR):c.196C>G (p.Pro66Ala) rs1314856456 0.00001
NM_001111.5(ADAR):c.200C>T (p.Ser67Phe) rs1367119670 0.00001
NM_001111.5(ADAR):c.2042A>G (p.His681Arg) rs762924757 0.00001
NM_001111.5(ADAR):c.2077C>G (p.Gln693Glu) rs121912423 0.00001
NM_001111.5(ADAR):c.2140A>G (p.Arg714Gly) rs1697539238 0.00001
NM_001111.5(ADAR):c.2152G>A (p.Glu718Lys) rs1280463566 0.00001
NM_001111.5(ADAR):c.215G>A (p.Arg72Gln) rs200754665 0.00001
NM_001111.5(ADAR):c.2173A>G (p.Thr725Ala) rs1697536698 0.00001
NM_001111.5(ADAR):c.2196G>A (p.Leu732=) rs939759749 0.00001
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn) rs754538298 0.00001
NM_001111.5(ADAR):c.2263G>A (p.Glu755Lys) rs758150130 0.00001
NM_001111.5(ADAR):c.2283A>G (p.Gln761=) rs186310208 0.00001
NM_001111.5(ADAR):c.2320G>A (p.Ala774Thr) rs368419418 0.00001
NM_001111.5(ADAR):c.2368C>T (p.Arg790Cys) rs1429411421 0.00001
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334 0.00001
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) rs750048114 0.00001
NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser) rs775500671 0.00001
NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro) rs1261780777 0.00001
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr) rs1424630296 0.00001
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val) rs767879893 0.00001
NM_001111.5(ADAR):c.2886-5T>C rs201213195 0.00001
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu) rs886045339 0.00001
NM_001111.5(ADAR):c.2929A>C (p.Ser977Arg) rs766544371 0.00001
NM_001111.5(ADAR):c.2932G>A (p.Asp978Asn) rs1288413218 0.00001
NM_001111.5(ADAR):c.2935C>T (p.Arg979Cys) rs369346345 0.00001
NM_001111.5(ADAR):c.2960G>A (p.Arg987His) rs760200045 0.00001
NM_001111.5(ADAR):c.302G>C (p.Ser101Thr) rs763972905 0.00001
NM_001111.5(ADAR):c.3040G>C (p.Glu1014Gln) rs965662260 0.00001
NM_001111.5(ADAR):c.307G>C (p.Gly103Arg) rs1248454035 0.00001
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His) rs773129591 0.00001
NM_001111.5(ADAR):c.31G>A (p.Gly11Arg) rs747039563 0.00001
NM_001111.5(ADAR):c.3298A>G (p.Ile1100Val) rs778334248 0.00001
NM_001111.5(ADAR):c.3305A>G (p.Asn1102Ser) rs1321911338 0.00001
NM_001111.5(ADAR):c.340C>T (p.Arg114Cys) rs200286478 0.00001
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala) rs200084726 0.00001
NM_001111.5(ADAR):c.3443+3A>G rs746915200 0.00001
NM_001111.5(ADAR):c.3449G>A (p.Arg1150Gln) rs779950072 0.00001
NM_001111.5(ADAR):c.3460T>C (p.Ser1154Pro) rs887707722 0.00001
NM_001111.5(ADAR):c.3514C>T (p.Arg1172Cys) rs752914135 0.00001
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His) rs866441514 0.00001
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys) rs979532140 0.00001
NM_001111.5(ADAR):c.412G>A (p.Asp138Asn) rs1232376686 0.00001
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499 0.00001
NM_001111.5(ADAR):c.419A>C (p.Glu140Ala) rs753539550 0.00001
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg) rs763767761 0.00001
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg) rs762094056 0.00001
NM_001111.5(ADAR):c.557A>G (p.Gln186Arg) rs375311213 0.00001
NM_001111.5(ADAR):c.55G>A (p.Gly19Ser) rs746103046 0.00001
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) rs199906332 0.00001
NM_001111.5(ADAR):c.661C>T (p.Pro221Ser) rs752904311 0.00001
NM_001111.5(ADAR):c.686C>T (p.Pro229Leu) rs1338472867 0.00001
NM_001111.5(ADAR):c.691G>A (p.Asp231Asn) rs772751856 0.00001
NM_001111.5(ADAR):c.722T>A (p.Leu241His) rs1472127685 0.00001
NM_001111.5(ADAR):c.754G>T (p.Ala252Ser) rs1354088100 0.00001
NM_001111.5(ADAR):c.820C>A (p.Pro274Thr) rs779977985 0.00001
NM_001111.5(ADAR):c.869C>G (p.Pro290Arg) rs1284913091 0.00001
NM_001111.5(ADAR):c.944C>G (p.Ala315Gly) rs761347223 0.00001
NM_001111.5(ADAR):c.962A>G (p.Asn321Ser) rs760376737 0.00001
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) rs771889800 0.00001
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr) rs770793371 0.00001
NM_001122769.3(LCA5):c.250C>T (p.Arg84Cys) rs750430540 0.00001
NM_001122769.3(LCA5):c.439C>T (p.Leu147=) rs141291555 0.00001
NM_001122769.3(LCA5):c.73T>C (p.Ser25Pro) rs199902236 0.00001
NM_001127453.2(GSDME):c.1349G>A (p.Arg450His) rs764724618 0.00001
NM_001127453.2(GSDME):c.225G>A (p.Ser75=) rs191022542 0.00001
NM_001127453.2(GSDME):c.247A>G (p.Lys83Glu) rs777453610 0.00001
NM_001127453.2(GSDME):c.294G>A (p.Lys98=) rs1385224336 0.00001
NM_001127453.2(GSDME):c.430C>A (p.Leu144Ile) rs1562697643 0.00001
NM_001127453.2(GSDME):c.544G>A (p.Gly182Ser) rs745411723 0.00001
NM_001127453.2(GSDME):c.766G>A (p.Asp256Asn) rs763468767 0.00001
NM_001127649.3(PEX26):c.*1493C>G rs1926993500 0.00001
NM_001127649.3(PEX26):c.*1928A>C rs905337330 0.00001
NM_001127649.3(PEX26):c.*2285C>T rs886057257 0.00001
NM_001127649.3(PEX26):c.*2370T>A rs571008916 0.00001
NM_001127649.3(PEX26):c.*2604G>C rs983170194 0.00001
NM_001127649.3(PEX26):c.*2724G>C rs58564536 0.00001
NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala) rs769260247 0.00001
NM_001127649.3(PEX26):c.205G>A (p.Ala69Thr) rs372192286 0.00001
NM_001127649.3(PEX26):c.217G>C (p.Glu73Gln) rs758179855 0.00001
NM_001127649.3(PEX26):c.262G>T (p.Val88Leu) rs555951210 0.00001
NM_001127649.3(PEX26):c.281C>G (p.Ala94Gly) rs761216250 0.00001
NM_001127649.3(PEX26):c.310T>A (p.Ser104Thr) rs148629338 0.00001
NM_001127649.3(PEX26):c.35T>A (p.Leu12His) rs1476091565 0.00001
NM_001127649.3(PEX26):c.372-9G>T rs1926701070 0.00001
NM_001127649.3(PEX26):c.425G>A (p.Gly142Asp) rs1926704169 0.00001
NM_001127649.3(PEX26):c.490G>A (p.Val164Met) rs1161672696 0.00001
NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro) rs768604587 0.00001
NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr) rs1466173209 0.00001
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val) rs370147115 0.00001
NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro) rs1287277452 0.00001
NM_001127649.3(PEX26):c.587T>A (p.Leu196His) rs1926714377 0.00001
NM_001127649.3(PEX26):c.605C>T (p.Ala202Val) rs778822723 0.00001
NM_001127649.3(PEX26):c.627A>T (p.Glu209Asp) rs1344950383 0.00001
NM_001127649.3(PEX26):c.628C>T (p.His210Tyr) rs1199052809 0.00001
NM_001127649.3(PEX26):c.662T>G (p.Leu221Arg) rs767345970 0.00001
NM_001127649.3(PEX26):c.673G>A (p.Val225Ile) rs368290011 0.00001
NM_001127649.3(PEX26):c.680A>T (p.His227Leu) rs776806184 0.00001
NM_001127649.3(PEX26):c.685T>C (p.Phe229Leu) rs1331262454 0.00001
NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu) rs765734604 0.00001
NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg) rs771847925 0.00001
NM_001127649.3(PEX26):c.742T>G (p.Phe248Val) rs1242355055 0.00001
NM_001127649.3(PEX26):c.758A>G (p.Lys253Arg) rs1442402838 0.00001
NM_001127649.3(PEX26):c.776C>T (p.Ala259Val) rs1438615858 0.00001
NM_001127649.3(PEX26):c.788G>C (p.Cys263Ser) rs770160225 0.00001
NM_001127649.3(PEX26):c.799G>A (p.Val267Met) rs1376246557 0.00001
NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr) rs374630564 0.00001
NM_001127649.3(PEX26):c.817T>G (p.Ser273Ala) rs745490062 0.00001
NM_001127649.3(PEX26):c.854A>G (p.Gln285Arg) rs767603690 0.00001
NM_001127649.3(PEX26):c.857T>C (p.Leu286Pro) rs750644243 0.00001
NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln) rs1926394690 0.00001
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336 0.00001
NM_001127649.3(PEX26):c.890G>A (p.Arg297His) rs1290168962 0.00001
NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys) rs772069004 0.00001
NM_001127671.2(LIFR):c.*2437A>G rs925267459 0.00001
NM_001127671.2(LIFR):c.*2585T>A rs1284035304 0.00001
NM_001127671.2(LIFR):c.*2825G>A rs952292818 0.00001
NM_001127671.2(LIFR):c.*3085G>T rs552475268 0.00001
NM_001127671.2(LIFR):c.*3162T>G rs1743825125 0.00001
NM_001127671.2(LIFR):c.*3563T>C rs1219109807 0.00001
NM_001127671.2(LIFR):c.*3852C>G rs1238336955 0.00001
NM_001127671.2(LIFR):c.*415A>G rs1579990996 0.00001
NM_001127671.2(LIFR):c.*4264T>G rs886060615 0.00001
NM_001127671.2(LIFR):c.*4438A>G rs886060613 0.00001
NM_001127671.2(LIFR):c.*4799A>G rs1392993911 0.00001
NM_001127671.2(LIFR):c.*5421A>G rs1393635624 0.00001
NM_001127671.2(LIFR):c.*6483C>A rs771210595 0.00001
NM_001127671.2(LIFR):c.*987C>T rs886060622 0.00001
NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn) rs753566378 0.00001
NM_001127671.2(LIFR):c.1194A>G (p.Gln398=) rs1192463698 0.00001
NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile) rs764228036 0.00001
NM_001127671.2(LIFR):c.1439G>A (p.Arg480Gln) rs781727104 0.00001
NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp) rs769058491 0.00001
NM_001127671.2(LIFR):c.1776C>G (p.His592Gln) rs762360996 0.00001
NM_001127671.2(LIFR):c.2001G>A (p.Ser667=) rs1195064309 0.00001
NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser) rs767530602 0.00001
NM_001127671.2(LIFR):c.2066-14T>C rs749796645 0.00001
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692 0.00001
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) rs746744753 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu) rs775530423 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1018C>T (p.Leu340Phe) rs777385746 0.00001
NM_001128178.3(NPHP1):c.1103C>T (p.Thr368Ile) rs778528184 0.00001
NM_001128178.3(NPHP1):c.1162A>G (p.Thr388Ala) rs755943785 0.00001
NM_001128178.3(NPHP1):c.1186G>C (p.Asp396His) rs1285357819 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser) rs774251781 0.00001
NM_001128178.3(NPHP1):c.1436G>A (p.Gly479Asp) rs960255611 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1456A>G (p.Met486Val) rs1054886885 0.00001
NM_001128178.3(NPHP1):c.1520A>G (p.Asn507Ser) rs35638834 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val) rs141786398 0.00001
NM_001128178.3(NPHP1):c.1565C>T (p.Ser522Phe) rs756812918 0.00001
NM_001128178.3(NPHP1):c.1597C>A (p.Leu533Ile) rs776530596 0.00001
NM_001128178.3(NPHP1):c.1663C>G (p.Leu555Val) rs770266229 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val) rs778619698 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1739G>A (p.Ser580Asn) rs1408406395 0.00001
NM_001128178.3(NPHP1):c.175A>C (p.Asn59His) rs1215401547 0.00001
NM_001128178.3(NPHP1):c.1765G>A (p.Asp589Asn) rs896252440 0.00001
NM_001128178.3(NPHP1):c.1813G>A (p.Val605Met) rs770956057 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1867G>C (p.Glu623Gln) rs1418617951 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.330-9T>G rs748197517 0.00001
NM_001128178.3(NPHP1):c.356A>G (p.Glu119Gly) rs745835094 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.472A>G (p.Ile158Val) rs745768183 0.00001
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys) rs772166657 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.771+137G>A rs779083426 0.00001
NM_001128178.3(NPHP1):c.771+139A>G rs1345383804 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001128178.3(NPHP1):c.875C>T (p.Ala292Val) rs1179796852 0.00001
NM_001128178.3(NPHP1):c.922A>G (p.Arg308Gly) rs1404351082 0.00001
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) rs1212929849 0.00001
NM_001128178.3(NPHP1):c.973C>T (p.Arg325Cys) rs748435719 0.00001
NM_001128178.3(NPHP1):c.974G>A (p.Arg325His) rs779098996 0.00001
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu) rs587781374 0.00001
NM_001128425.2(MUTYH):c.19C>G (p.Arg7Gly) rs1382218222 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg) rs745424307 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) rs746610724 0.00001
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) rs925623903 0.00001
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) rs1131691788 0.00001
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) rs794727119 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 0.00001
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met) rs761279290 0.00001
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu) rs139258703 0.00001
NM_001130987.2(DYSF):c.1576+18T>C rs768373625 0.00001
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) rs559177313 0.00001
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr) rs749866053 0.00001
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) rs745472489 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) rs1299723799 0.00001
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=) rs762651388 0.00001
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) rs372475742 0.00001
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys) rs754179180 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) rs756463088 0.00001
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) rs759412160 0.00001
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu) rs146153109 0.00001
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=) rs750999022 0.00001
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) rs770997582 0.00001
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489 0.00001
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) rs1574058921 0.00001
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys) rs755791637 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) rs550721009 0.00001
NM_001130987.2(DYSF):c.3228+8A>C rs749135257 0.00001
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) rs1486623448 0.00001
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) rs377079619 0.00001
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile) rs770648429 0.00001
NM_001130987.2(DYSF):c.3577C>T (p.Pro1193Ser) rs916964397 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) rs143393575 0.00001
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) rs1392863221 0.00001
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) rs747606668 0.00001
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) rs539141161 0.00001
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) rs753817458 0.00001
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) rs774779883 0.00001
NM_001130987.2(DYSF):c.3898-4C>G rs555206040 0.00001
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) rs1185353979 0.00001
NM_001130987.2(DYSF):c.4060-7T>A rs753614306 0.00001
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) rs149182447 0.00001
NM_001130987.2(DYSF):c.4221+10A>G rs1448201474 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser) rs151109021 0.00001
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met) rs758226677 0.00001
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val) rs767309227 0.00001
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val) rs779344280 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) rs1463145288 0.00001
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=) rs775026383 0.00001
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192 0.00001
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) rs886042492 0.00001
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) rs781415745 0.00001
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) rs146153532 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) rs755108809 0.00001
NM_001130987.2(DYSF):c.5317+6C>G rs1289453214 0.00001
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) rs773089790 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) rs727503914 0.00001
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) rs886056283 0.00001
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) rs533781748 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro) rs768704227 0.00001
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe) rs1486691301 0.00001
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr) rs191052325 0.00001
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His) rs777543798 0.00001
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) rs543664648 0.00001
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) rs763104746 0.00001
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) rs759198745 0.00001
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) rs1189744662 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) rs557683788 0.00001
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=) rs561011151 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001130987.2(DYSF):c.6322-7C>T rs749806665 0.00001
NM_001130987.2(DYSF):c.636G>A (p.Pro212=) rs185711021 0.00001
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) rs756925596 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys) rs1375948337 0.00001
NM_001130987.2(DYSF):c.965G>A (p.Arg322His) rs1386290894 0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780 0.00001
NM_001134793.2(HYLS1):c.15A>C (p.Leu5=) rs759153895 0.00001
NM_001134793.2(HYLS1):c.662G>A (p.Arg221Gln) rs375332939 0.00001
NM_001134793.2(HYLS1):c.895T>C (p.Ser299Pro) rs752716062 0.00001
NM_001134831.2(AHI1):c.*1327C>T rs371457794 0.00001
NM_001134831.2(AHI1):c.*1646T>C rs886061100 0.00001
NM_001134831.2(AHI1):c.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser) rs1380121460 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg) rs752051700 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) rs768784091 0.00001
NM_001139.3(ALOX12B):c.1842C>T (p.Thr614=) rs761519997 0.00001
NM_001139.3(ALOX12B):c.1926+4C>T rs886053561 0.00001
NM_001139.3(ALOX12B):c.25G>A (p.Ala9Thr) rs1187233074 0.00001
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) rs200663524 0.00001
NM_001139.3(ALOX12B):c.567C>A (p.Asn189Lys) rs768113112 0.00001
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser) rs746906096 0.00001
NM_001143985.1(BANF1):c.-35A>T rs886048515 0.00001
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr) rs1162035408 0.00001
NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) rs763828661 0.00001
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) rs199522817 0.00001
NM_001143992.2(WRAP53):c.432-15C>G rs771063284 0.00001
NM_001143992.2(WRAP53):c.822+10G>A rs372606750 0.00001
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu) rs375280065 0.00001
NM_001145809.2(MYH14):c.*474A>G rs886054597 0.00001
NM_001145809.2(MYH14):c.-3-6C>T rs886054586 0.00001
NM_001145809.2(MYH14):c.-37C>T rs549250648 0.00001
NM_001145809.2(MYH14):c.-48C>T rs1371256666 0.00001
NM_001145809.2(MYH14):c.1295G>A (p.Arg432Gln) rs751011647 0.00001
NM_001145809.2(MYH14):c.1368C>T (p.Tyr456=) rs554040475 0.00001
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001145809.2(MYH14):c.1657-7T>C rs369518939 0.00001
NM_001145809.2(MYH14):c.204G>A (p.Ala68=) rs780560401 0.00001
NM_001145809.2(MYH14):c.2086G>A (p.Asp696Asn) rs539256005 0.00001
NM_001145809.2(MYH14):c.2089G>A (p.Gly697Ser) rs778416774 0.00001
NM_001145809.2(MYH14):c.2126G>A (p.Arg709Gln) rs766802012 0.00001
NM_001145809.2(MYH14):c.2271T>C (p.Leu757=) rs371266692 0.00001
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628 0.00001
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) rs142134135 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.3427C>T (p.Leu1143=) rs770366755 0.00001
NM_001145809.2(MYH14):c.3593A>T (p.Gln1198Leu) rs755161446 0.00001
NM_001145809.2(MYH14):c.3868G>A (p.Glu1290Lys) rs1421577105 0.00001
NM_001145809.2(MYH14):c.393C>T (p.Ser131=) rs778036519 0.00001
NM_001145809.2(MYH14):c.3945G>A (p.Leu1315=) rs769999356 0.00001
NM_001145809.2(MYH14):c.4212C>T (p.Ala1404=) rs774053333 0.00001
NM_001145809.2(MYH14):c.4669C>T (p.Arg1557Cys) rs780299880 0.00001
NM_001145809.2(MYH14):c.4778G>A (p.Arg1593Gln) rs776185423 0.00001
NM_001145809.2(MYH14):c.535G>A (p.Glu179Lys) rs886054588 0.00001
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln) rs201040702 0.00001
NM_001145809.2(MYH14):c.559C>A (p.Gln187Lys) rs1157237240 0.00001
NM_001145809.2(MYH14):c.5858G>A (p.Arg1953Gln) rs754203387 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.652G>A (p.Val218Met) rs748472752 0.00001
NM_001145809.2(MYH14):c.851T>C (p.Ile284Thr) rs752106950 0.00001
NM_001145809.2(MYH14):c.909C>T (p.Ala303=) rs199682956 0.00001
NM_001146079.2(CLDN14):c.-492C>T rs886057055 0.00001
NM_001146079.2(CLDN14):c.18G>A (p.Val6=) rs387907417 0.00001
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) rs764077250 0.00001
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) rs760657763 0.00001
NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) rs759597838 0.00001
NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) rs200651246 0.00001
NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) rs763085148 0.00001
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg) rs149274458 0.00001
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys) rs1006238101 0.00001
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) rs770244296 0.00001
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met) rs1029565906 0.00001
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu) rs199948844 0.00001
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile) rs1339133695 0.00001
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr) rs1459705932 0.00001
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) rs767963216 0.00001
NM_001161403.3(LIMS2):c.11+1282G>C rs1419776330 0.00001
NM_001161403.3(LIMS2):c.11+1330G>A rs113414022 0.00001
NM_001161403.3(LIMS2):c.114G>C (p.Glu38Asp) rs374132948 0.00001
NM_001161403.3(LIMS2):c.14A>G (p.Asn5Ser) rs772186673 0.00001
NM_001161403.3(LIMS2):c.167A>G (p.Tyr56Cys) rs752811662 0.00001
NM_001161403.3(LIMS2):c.199G>A (p.Asp67Asn) rs1017450419 0.00001
NM_001161403.3(LIMS2):c.237C>T (p.Cys79=) rs531118175 0.00001
NM_001161403.3(LIMS2):c.238G>A (p.Gly80Ser) rs753710553 0.00001
NM_001161403.3(LIMS2):c.431A>G (p.His144Arg) rs780102756 0.00001
NM_001161403.3(LIMS2):c.50G>A (p.Arg17His) rs775450533 0.00001
NM_001161403.3(LIMS2):c.517C>G (p.Leu173Val) rs1200220600 0.00001
NM_001161403.3(LIMS2):c.526G>A (p.Glu176Lys) rs759040020 0.00001
NM_001161403.3(LIMS2):c.61C>T (p.Arg21Cys) rs745803442 0.00001
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr) rs1490885244 0.00001
NM_001161403.3(LIMS2):c.955C>T (p.Arg319Trp) rs765582704 0.00001
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) rs992608564 0.00001
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) rs1203128651 0.00001
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) rs766140596 0.00001
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001164375.3(C10orf105):c.*3278G>A rs776427467 0.00001
NM_001165927.1(MKS1):c.32G>C (p.Arg11Pro) rs1312121495 0.00001
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840 0.00001
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) rs200582171 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) rs940803158 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1603T>C (p.Ser535Pro) rs72653773 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro) rs768271196 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.2070+5G>A rs72664208 0.00001
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) rs143731811 0.00001
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) rs1252723064 0.00001
NM_001171.6(ABCC6):c.2248G>A (p.Gly750Ser) rs1192373126 0.00001
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter) rs1412967184 0.00001
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2643G>T (p.Arg881Ser) rs72653800 0.00001
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) rs987609654 0.00001
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691 0.00001
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro) rs1555509499 0.00001
NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg) rs1555508972 0.00001
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr) rs63749998 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser) rs63751112 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 0.00001
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807 0.00001
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr) rs576803886 0.00001
NM_001184.4(ATR):c.109C>A (p.Leu37Met) rs2035133075 0.00001
NM_001184.4(ATR):c.10C>T (p.His4Tyr) rs373534503 0.00001
NM_001184.4(ATR):c.1165G>A (p.Ala389Thr) rs771295593 0.00001
NM_001184.4(ATR):c.121A>G (p.Ile41Val) rs2035132364 0.00001
NM_001184.4(ATR):c.1285C>T (p.Pro429Ser) rs764970007 0.00001
NM_001184.4(ATR):c.1350-3T>C rs587783323 0.00001
NM_001184.4(ATR):c.1368G>A (p.Met456Ile) rs1378223602 0.00001
NM_001184.4(ATR):c.139G>C (p.Asp47His) rs1317279719 0.00001
NM_001184.4(ATR):c.1439G>T (p.Ser480Ile) rs750056135 0.00001
NM_001184.4(ATR):c.152-9T>C rs748613519 0.00001
NM_001184.4(ATR):c.1643G>A (p.Arg548Lys) rs1374321250 0.00001
NM_001184.4(ATR):c.1678G>C (p.Glu560Gln) rs772100771 0.00001
NM_001184.4(ATR):c.1784C>T (p.Ser595Leu) rs747451103 0.00001
NM_001184.4(ATR):c.1810G>C (p.Asp604His) rs750939829 0.00001
NM_001184.4(ATR):c.1883A>G (p.Tyr628Cys) rs769300741 0.00001
NM_001184.4(ATR):c.1966T>C (p.Tyr656His) rs1052378174 0.00001
NM_001184.4(ATR):c.196G>A (p.Val66Met) rs758564083 0.00001
NM_001184.4(ATR):c.1972T>C (p.Trp658Arg) rs372411144 0.00001
NM_001184.4(ATR):c.1975G>A (p.Ala659Thr) rs758152041 0.00001
NM_001184.4(ATR):c.2092G>A (p.Asp698Asn) rs1553770633 0.00001
NM_001184.4(ATR):c.2143G>T (p.Val715Phe) rs1177859208 0.00001
NM_001184.4(ATR):c.225C>T (p.Ile75=) rs886058059 0.00001
NM_001184.4(ATR):c.2403T>A (p.Asp801Glu) rs1441471018 0.00001
NM_001184.4(ATR):c.2608A>G (p.Ile870Val) rs763994421 0.00001
NM_001184.4(ATR):c.260G>T (p.Ser87Ile) rs200407265 0.00001
NM_001184.4(ATR):c.2634-1G>A rs372271245 0.00001
NM_001184.4(ATR):c.2681A>G (p.His894Arg) rs774278641 0.00001
NM_001184.4(ATR):c.2684G>A (p.Cys895Tyr) rs1202782083 0.00001
NM_001184.4(ATR):c.3014A>G (p.Lys1005Arg) rs749139052 0.00001
NM_001184.4(ATR):c.3069C>A (p.Val1023=) rs750797892 0.00001
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001184.4(ATR):c.31A>G (p.Met11Val) rs1166368568 0.00001
NM_001184.4(ATR):c.324G>A (p.Leu108=) rs538761445 0.00001
NM_001184.4(ATR):c.3364T>A (p.Tyr1122Asn) rs1208889130 0.00001
NM_001184.4(ATR):c.3458A>G (p.Asn1153Ser) rs563040643 0.00001
NM_001184.4(ATR):c.3549A>G (p.Arg1183=) rs754976013 0.00001
NM_001184.4(ATR):c.3584C>T (p.Ala1195Val) rs1389009165 0.00001
NM_001184.4(ATR):c.3611A>G (p.Asp1204Gly) rs749952876 0.00001
NM_001184.4(ATR):c.3646A>G (p.Ile1216Val) rs1300617940 0.00001
NM_001184.4(ATR):c.3727G>T (p.Asp1243Tyr) rs756859157 0.00001
NM_001184.4(ATR):c.3820-4A>G rs748067492 0.00001
NM_001184.4(ATR):c.4035T>A (p.Asp1345Glu) rs983000315 0.00001
NM_001184.4(ATR):c.4061G>C (p.Cys1354Ser) rs1396313983 0.00001
NM_001184.4(ATR):c.4218G>A (p.Ala1406=) rs770181975 0.00001
NM_001184.4(ATR):c.4301A>C (p.Glu1434Ala) rs1326317682 0.00001
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp) rs587783328 0.00001
NM_001184.4(ATR):c.431T>G (p.Val144Gly) rs749942139 0.00001
NM_001184.4(ATR):c.436A>G (p.Thr146Ala) rs765018743 0.00001
NM_001184.4(ATR):c.4544G>A (p.Ser1515Asn) rs1346761060 0.00001
NM_001184.4(ATR):c.4778G>A (p.Arg1593Lys) rs772382675 0.00001
NM_001184.4(ATR):c.5052T>C (p.His1684=) rs150810277 0.00001
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly) rs763130593 0.00001
NM_001184.4(ATR):c.5349G>T (p.Gln1783His) rs886058055 0.00001
NM_001184.4(ATR):c.5642T>C (p.Leu1881Pro) rs145185913 0.00001
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser) rs587783334 0.00001
NM_001184.4(ATR):c.5869G>A (p.Val1957Met) rs753319463 0.00001
NM_001184.4(ATR):c.59+4G>A rs758046042 0.00001
NM_001184.4(ATR):c.5900G>A (p.Gly1967Asp) rs751198306 0.00001
NM_001184.4(ATR):c.5996A>G (p.His1999Arg) rs764703895 0.00001
NM_001184.4(ATR):c.6079-14G>A rs886058053 0.00001
NM_001184.4(ATR):c.6089C>T (p.Ala2030Val) rs755650081 0.00001
NM_001184.4(ATR):c.6196C>T (p.Arg2066Trp) rs369309229 0.00001
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909 0.00001
NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg) rs2071208734 0.00001
NM_001184.4(ATR):c.647T>C (p.Ile216Thr) rs776894408 0.00001
NM_001184.4(ATR):c.671G>A (p.Arg224Lys) rs771711234 0.00001
NM_001184.4(ATR):c.6775C>G (p.Leu2259Val) rs2071133204 0.00001
NM_001184.4(ATR):c.6829C>T (p.His2277Tyr) rs755816195 0.00001
NM_001184.4(ATR):c.6976T>C (p.Cys2326Arg) rs766127973 0.00001
NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser) rs1029034437 0.00001
NM_001184.4(ATR):c.7349+2T>C rs200556378 0.00001
NM_001184.4(ATR):c.7427G>A (p.Arg2476His) rs777776233 0.00001
NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser) rs373093280 0.00001
NM_001184.4(ATR):c.7658T>A (p.Val2553Asp) rs1043401586 0.00001
NM_001184.4(ATR):c.958A>G (p.Met320Val) rs1467405815 0.00001
NM_001194998.2(CEP152):c.*33A>G rs766414465 0.00001
NM_001194998.2(CEP152):c.*73A>C rs886051259 0.00001
NM_001194998.2(CEP152):c.1100C>A (p.Thr367Lys) rs372764060 0.00001
NM_001194998.2(CEP152):c.1650A>G (p.Val550=) rs370925576 0.00001
NM_001194998.2(CEP152):c.172G>A (p.Glu58Lys) rs755782063 0.00001
NM_001194998.2(CEP152):c.1818A>T (p.Gln606His) rs745853068 0.00001
NM_001194998.2(CEP152):c.2018+10A>G rs374053407 0.00001
NM_001194998.2(CEP152):c.2019G>A (p.Arg673=) rs587783418 0.00001
NM_001194998.2(CEP152):c.2362A>G (p.Thr788Ala) rs587783420 0.00001
NM_001194998.2(CEP152):c.2827G>A (p.Glu943Lys) rs552367317 0.00001
NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp) rs145813772 0.00001
NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) rs771359060 0.00001
NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) rs1042361244 0.00001
NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) rs537168507 0.00001
NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu) rs778040674 0.00001
NM_001194998.2(CEP152):c.3781G>A (p.Gly1261Arg) rs369980055 0.00001
NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His) rs750366915 0.00001
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn) rs760130069 0.00001
NM_001194998.2(CEP152):c.4242G>A (p.Arg1414=) rs1892781110 0.00001
NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) rs776286310 0.00001
NM_001194998.2(CEP152):c.5107G>T (p.Asp1703Tyr) rs74746669 0.00001
NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile) rs749959761 0.00001
NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn) rs1897106202 0.00001
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) rs1425787315 0.00001
NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn) rs1845964280 0.00001
NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys) rs879329788 0.00001
NM_001195305.3(BBIP1):c.85A>G (p.Met29Val) rs964029226 0.00001
NM_001195794.1(CLRN1):c.-141C>T rs769902137 0.00001
NM_001195794.1(CLRN1):c.-82T>C rs778235601 0.00001
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) rs777515811 0.00001
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) rs762442022 0.00001
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581 0.00001
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) rs528162903 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) rs863224932 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) rs201911646 0.00001
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) rs951307443 0.00001
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) rs772570554 0.00001
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) rs1596972871 0.00001
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573 0.00001
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) rs1403522004 0.00001
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) rs761300077 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924 0.00001
NM_001199107.2(TBC1D24):c.1526-3C>T rs752385354 0.00001
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) rs780286465 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) rs779026472 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) rs1427285339 0.00001
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) rs866586869 0.00001
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) rs756581138 0.00001
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630 0.00001
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) rs543224888 0.00001
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) rs1343535255 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920 0.00001
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) rs754479878 0.00001
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) rs770787878 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) rs565087939 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) rs1277641753 0.00001
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) rs757359393 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) rs771442254 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly) rs761347854 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) rs370614433 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) rs1004946712 0.00001
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) rs1417808543 0.00001
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) rs775099094 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199107.2(TBC1D24):c.965+13C>T rs531521557 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu) rs779515686 0.00001
NM_001206999.2(CIT):c.4897C>T (p.Arg1633Cys) rs759128008 0.00001
NM_001206999.2(CIT):c.4898G>A (p.Arg1633His) rs774006998 0.00001
NM_001206999.2(CIT):c.652G>A (p.Val218Met) rs777293258 0.00001
NM_001206999.2(CIT):c.67C>T (p.Arg23Trp) rs372379880 0.00001
NM_001242882.2(NAXD):c.923G>A (p.Arg308His) rs199883055 0.00001
NM_001254.4(CDC6):c.*414C>T rs886052904 0.00001
NM_001254.4(CDC6):c.*84G>A rs938053501 0.00001
NM_001254.4(CDC6):c.1556T>G (p.Leu519Ter) rs372396327 0.00001
NM_001254.4(CDC6):c.1591A>G (p.Lys531Glu) rs746864516 0.00001
NM_001254.4(CDC6):c.894C>T (p.Tyr298=) rs537454091 0.00001
NM_001256317.3(TMPRSS3):c.*429C>A rs760132655 0.00001
NM_001256317.3(TMPRSS3):c.*493C>T rs146497192 0.00001
NM_001256317.3(TMPRSS3):c.-51-12T>C rs149439713 0.00001
NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala) rs369161852 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.1344+9G>A rs200739633 0.00001
NM_001256317.3(TMPRSS3):c.17C>T (p.Pro6Leu) rs139865555 0.00001
NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=) rs142784113 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001267550.2(TTN):c.*183A>G rs534998626 0.00001
NM_001267550.2(TTN):c.*280A>G rs549242855 0.00001
NM_001267550.2(TTN):c.*504G>A rs957184446 0.00001
NM_001267550.2(TTN):c.*633C>T rs1242028803 0.00001
NM_001267550.2(TTN):c.-217G>A rs886055311 0.00001
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala) rs777018654 0.00001
NM_001267550.2(TTN):c.100373T>C (p.Ile33458Thr) rs72648283 0.00001
NM_001267550.2(TTN):c.100429G>C (p.Glu33477Gln) rs794729556 0.00001
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp) rs370253076 0.00001
NM_001267550.2(TTN):c.10070C>T (p.Ser3357Phe) rs886042377 0.00001
NM_001267550.2(TTN):c.100745C>G (p.Thr33582Ser) rs1289282264 0.00001
NM_001267550.2(TTN):c.100759G>A (p.Val33587Met) rs1401200720 0.00001
NM_001267550.2(TTN):c.100841G>A (p.Ser33614Asn) rs879230745 0.00001
NM_001267550.2(TTN):c.100903C>T (p.Leu33635Phe) rs879048474 0.00001
NM_001267550.2(TTN):c.100966C>T (p.Pro33656Ser) rs559295181 0.00001
NM_001267550.2(TTN):c.10099C>T (p.Arg3367Trp) rs762791706 0.00001
NM_001267550.2(TTN):c.101012C>A (p.Ala33671Asp) rs1575296563 0.00001
NM_001267550.2(TTN):c.101144C>T (p.Ser33715Phe) rs755892166 0.00001
NM_001267550.2(TTN):c.101165C>T (p.Thr33722Ile) rs1372744849 0.00001
NM_001267550.2(TTN):c.101284G>A (p.Val33762Ile) rs1385559568 0.00001
NM_001267550.2(TTN):c.101326C>G (p.Pro33776Ala) rs746665837 0.00001
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys) rs1484936368 0.00001
NM_001267550.2(TTN):c.101386G>A (p.Val33796Ile) rs1160027812 0.00001
NM_001267550.2(TTN):c.101387T>C (p.Val33796Ala) rs1454018253 0.00001
NM_001267550.2(TTN):c.101429C>G (p.Ser33810Cys) rs1467149853 0.00001
NM_001267550.2(TTN):c.101495T>C (p.Ile33832Thr) rs1476820246 0.00001
NM_001267550.2(TTN):c.101503C>T (p.Arg33835Cys) rs781516399 0.00001
NM_001267550.2(TTN):c.101519C>T (p.Ser33840Phe) rs1202069310 0.00001
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn) rs377406091 0.00001
NM_001267550.2(TTN):c.101551A>C (p.Lys33851Gln) rs1394900631 0.00001
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu) rs727505163 0.00001
NM_001267550.2(TTN):c.101572G>C (p.Val33858Leu) rs1060500584 0.00001
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp) rs1172459056 0.00001
NM_001267550.2(TTN):c.101606T>C (p.Ile33869Thr) rs1253957228 0.00001
NM_001267550.2(TTN):c.101655G>T (p.Met33885Ile) rs777177959 0.00001
NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp) rs764487443 0.00001
NM_001267550.2(TTN):c.101805T>G (p.Ile33935Met) rs76106451 0.00001
NM_001267550.2(TTN):c.101846C>T (p.Thr33949Ile) rs1559040993 0.00001
NM_001267550.2(TTN):c.101866A>C (p.Lys33956Gln) rs1690684721 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn) rs749832500 0.00001
NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu) rs773862320 0.00001
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln) rs727504897 0.00001
NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe) rs760604476 0.00001
NM_001267550.2(TTN):c.102040C>A (p.Pro34014Thr) rs775271604 0.00001
NM_001267550.2(TTN):c.102095A>G (p.Tyr34032Cys) rs1160872040 0.00001
NM_001267550.2(TTN):c.102116T>C (p.Phe34039Ser) rs1553496582 0.00001
NM_001267550.2(TTN):c.102139A>G (p.Met34047Val) rs755244797 0.00001
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His) rs774174825 0.00001
NM_001267550.2(TTN):c.102232G>C (p.Glu34078Gln) rs1454101167 0.00001
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr) rs786205293 0.00001
NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln) rs565347600 0.00001
NM_001267550.2(TTN):c.102368T>G (p.Val34123Gly) rs1060500587 0.00001
NM_001267550.2(TTN):c.102377C>T (p.Ala34126Val) rs1280930563 0.00001
NM_001267550.2(TTN):c.102397A>C (p.Ile34133Leu) rs1328046092 0.00001
NM_001267550.2(TTN):c.102445G>A (p.Glu34149Lys) rs780580255 0.00001
NM_001267550.2(TTN):c.102446A>G (p.Glu34149Gly) rs1165341799 0.00001
NM_001267550.2(TTN):c.102518G>A (p.Gly34173Asp) rs752184554 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.102586G>A (p.Val34196Ile) rs1185169765 0.00001
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser) rs375332499 0.00001
NM_001267550.2(TTN):c.102697T>C (p.Tyr34233His) rs1460715226 0.00001
NM_001267550.2(TTN):c.102698A>G (p.Tyr34233Cys) rs1461306828 0.00001
NM_001267550.2(TTN):c.102713G>A (p.Arg34238His) rs767961553 0.00001
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn) rs985229219 0.00001
NM_001267550.2(TTN):c.102814G>C (p.Gly34272Arg) rs794729562 0.00001
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr) rs779369864 0.00001
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His) rs376029089 0.00001
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys) rs768930172 0.00001
NM_001267550.2(TTN):c.102940G>C (p.Gly34314Arg) rs772007737 0.00001
NM_001267550.2(TTN):c.102976G>A (p.Asp34326Asn) rs1227502652 0.00001
NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr) rs749925915 0.00001
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys) rs765213170 0.00001
NM_001267550.2(TTN):c.103087C>T (p.Pro34363Ser) rs771573240 0.00001
NM_001267550.2(TTN):c.103088C>T (p.Pro34363Leu) rs1457631231 0.00001
NM_001267550.2(TTN):c.103121G>T (p.Cys34374Phe) rs368493317 0.00001
NM_001267550.2(TTN):c.103163G>A (p.Gly34388Asp) rs760436734 0.00001
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro) rs947426325 0.00001
NM_001267550.2(TTN):c.103178C>T (p.Thr34393Ile) rs372299779 0.00001
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg) rs371753532 0.00001
NM_001267550.2(TTN):c.103244G>A (p.Gly34415Asp) rs919270464 0.00001
NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val) rs777746298 0.00001
NM_001267550.2(TTN):c.103288G>T (p.Asp34430Tyr) rs751794473 0.00001
NM_001267550.2(TTN):c.10328C>T (p.Thr3443Ile) rs746052197 0.00001
NM_001267550.2(TTN):c.103334C>T (p.Thr34445Ile) rs778587344 0.00001
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn) rs878913368 0.00001
NM_001267550.2(TTN):c.103459C>A (p.Leu34487Ile) rs779924820 0.00001
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly) rs745616639 0.00001
NM_001267550.2(TTN):c.103586A>G (p.Glu34529Gly) rs1184132617 0.00001
NM_001267550.2(TTN):c.103633C>A (p.Pro34545Thr) rs533640993 0.00001
NM_001267550.2(TTN):c.103637G>A (p.Arg34546His) rs973169397 0.00001
NM_001267550.2(TTN):c.103661A>G (p.Glu34554Gly) rs1202031815 0.00001
NM_001267550.2(TTN):c.103672C>T (p.Arg34558Cys) rs745743825 0.00001
NM_001267550.2(TTN):c.103680G>C (p.Lys34560Asn) rs778525620 0.00001
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met) rs369429739 0.00001
NM_001267550.2(TTN):c.103693A>G (p.Met34565Val) rs1575256217 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.103744G>C (p.Gly34582Arg) rs1458830929 0.00001
NM_001267550.2(TTN):c.103762G>T (p.Val34588Leu) rs368889232 0.00001
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys) rs879240376 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.103835C>G (p.Thr34612Arg) rs1433454372 0.00001
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn) rs1430662349 0.00001
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val) rs79666048 0.00001
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) rs886042330 0.00001
NM_001267550.2(TTN):c.104044C>T (p.Arg34682Cys) rs1290406597 0.00001
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His) rs190398670 0.00001
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln) rs775049806 0.00001
NM_001267550.2(TTN):c.104064G>C (p.Glu34688Asp) rs1407460166 0.00001
NM_001267550.2(TTN):c.104089A>G (p.Ser34697Gly) rs1177374613 0.00001
NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln) rs757940030 0.00001
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu) rs757181586 0.00001
NM_001267550.2(TTN):c.104105A>G (p.His34702Arg) rs1190780620 0.00001
NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys) rs767826322 0.00001
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys) rs773467994 0.00001
NM_001267550.2(TTN):c.104165C>T (p.Thr34722Ile) rs770151999 0.00001
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys) rs397517789 0.00001
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp) rs753769495 0.00001
NM_001267550.2(TTN):c.104195A>G (p.His34732Arg) rs1250361204 0.00001
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr) rs1344770836 0.00001
NM_001267550.2(TTN):c.104272C>T (p.Pro34758Ser) rs1296833957 0.00001
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln) rs200773170 0.00001
NM_001267550.2(TTN):c.104308G>A (p.Asp34770Asn) rs1689483910 0.00001
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=) rs1575245592 0.00001
NM_001267550.2(TTN):c.104368C>T (p.Leu34790Phe) rs551824963 0.00001
NM_001267550.2(TTN):c.104435T>C (p.Ile34812Thr) rs1427010837 0.00001
NM_001267550.2(TTN):c.104444T>C (p.Ile34815Thr) rs908034780 0.00001
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys) rs766062367 0.00001
NM_001267550.2(TTN):c.104470C>T (p.His34824Tyr) rs1689413849 0.00001
NM_001267550.2(TTN):c.104474C>A (p.Ala34825Asp) rs766157074 0.00001
NM_001267550.2(TTN):c.104505A>T (p.Arg34835Ser) rs1464816261 0.00001
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr) rs886055222 0.00001
NM_001267550.2(TTN):c.104573T>A (p.Ile34858Asn) rs374668326 0.00001
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His) rs777774818 0.00001
NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu) rs1170097065 0.00001
NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys) rs373257372 0.00001
NM_001267550.2(TTN):c.104745A>C (p.Lys34915Asn) rs1390713685 0.00001
NM_001267550.2(TTN):c.104761C>G (p.Gln34921Glu) rs369190893 0.00001
NM_001267550.2(TTN):c.104821G>A (p.Ala34941Thr) rs1484852266 0.00001
NM_001267550.2(TTN):c.104849C>T (p.Ser34950Leu) rs762789368 0.00001
NM_001267550.2(TTN):c.104867G>A (p.Gly34956Asp) rs145748940 0.00001
NM_001267550.2(TTN):c.104878C>T (p.Arg34960Cys) rs772702110 0.00001
NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr) rs779363624 0.00001
NM_001267550.2(TTN):c.104905C>A (p.Pro34969Thr) rs1256480602 0.00001
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser) rs780028847 0.00001
NM_001267550.2(TTN):c.104952A>C (p.Glu34984Asp) rs1434654451 0.00001
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) rs775644738 0.00001
NM_001267550.2(TTN):c.104981G>A (p.Ser34994Asn) rs774081159 0.00001
NM_001267550.2(TTN):c.104989C>G (p.Leu34997Val) rs771364302 0.00001
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His) rs779484675 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys) rs727504977 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp) rs763437247 0.00001
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val) rs1001393566 0.00001
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr) rs376175862 0.00001
NM_001267550.2(TTN):c.1051G>A (p.Val351Met) rs772889673 0.00001
NM_001267550.2(TTN):c.105219G>A (p.Met35073Ile) rs1689052563 0.00001
NM_001267550.2(TTN):c.105311T>C (p.Met35104Thr) rs373073929 0.00001
NM_001267550.2(TTN):c.105370A>C (p.Lys35124Gln) rs760487831 0.00001
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val) rs779464128 0.00001
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln) rs554213990 0.00001
NM_001267550.2(TTN):c.105430G>A (p.Glu35144Lys) rs568472002 0.00001
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr) rs554953169 0.00001
NM_001267550.2(TTN):c.105457G>A (p.Asp35153Asn) rs778907927 0.00001
NM_001267550.2(TTN):c.105485G>C (p.Trp35162Ser) rs886042795 0.00001
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His) rs768358201 0.00001
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu) rs879156291 0.00001
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=) rs377340289 0.00001
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile) rs1290162863 0.00001
NM_001267550.2(TTN):c.105578C>A (p.Ala35193Asp) rs1380574216 0.00001
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro) rs769195414 0.00001
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile) rs1688851195 0.00001
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys) rs1688847847 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys) rs1010179080 0.00001
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp) rs377219772 0.00001
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His) rs758094020 0.00001
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His) rs1451951231 0.00001
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr) rs764713884 0.00001
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu) rs1183014419 0.00001
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr) rs879080442 0.00001
NM_001267550.2(TTN):c.10589A>T (p.Tyr3530Phe) rs755931621 0.00001
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) rs767420661 0.00001
NM_001267550.2(TTN):c.106055C>G (p.Ser35352Cys) rs746512551 0.00001
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys) rs778126842 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106180A>G (p.Lys35394Glu) rs745753316 0.00001
NM_001267550.2(TTN):c.106210G>A (p.Val35404Ile) rs752846394 0.00001
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser) rs567191587 0.00001
NM_001267550.2(TTN):c.106286C>T (p.Thr35429Ile) rs1241466221 0.00001
NM_001267550.2(TTN):c.106312A>G (p.Lys35438Glu) rs755067124 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.106374+3A>G rs976515961 0.00001
NM_001267550.2(TTN):c.106376C>T (p.Ala35459Val) rs879170800 0.00001
NM_001267550.2(TTN):c.106379T>C (p.Ile35460Thr) rs1398739704 0.00001
NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg) rs1474079403 0.00001
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.106549G>A (p.Ala35517Thr) rs772279090 0.00001
NM_001267550.2(TTN):c.106556A>G (p.Lys35519Arg) rs1422047351 0.00001
NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn) rs779206858 0.00001
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg) rs375572802 0.00001
NM_001267550.2(TTN):c.106771G>A (p.Glu35591Lys) rs935554305 0.00001
NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro) rs1304855425 0.00001
NM_001267550.2(TTN):c.106853T>C (p.Ile35618Thr) rs1575194805 0.00001
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met) rs751243461 0.00001
NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys) rs758497512 0.00001
NM_001267550.2(TTN):c.106994A>G (p.Lys35665Arg) rs746841189 0.00001
NM_001267550.2(TTN):c.107081T>C (p.Leu35694Pro) rs761325938 0.00001
NM_001267550.2(TTN):c.107167T>G (p.Cys35723Gly) rs1687597849 0.00001
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys) rs374992991 0.00001
NM_001267550.2(TTN):c.107218C>G (p.Leu35740Val) rs1176056991 0.00001
NM_001267550.2(TTN):c.107270A>G (p.Tyr35757Cys) rs932225386 0.00001
NM_001267550.2(TTN):c.107302G>A (p.Asp35768Asn) rs794729571 0.00001
NM_001267550.2(TTN):c.107320A>G (p.Ile35774Val) rs774401824 0.00001
NM_001267550.2(TTN):c.107446T>C (p.Phe35816Leu) rs1687028450 0.00001
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr) rs760758096 0.00001
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) rs372841288 0.00001
NM_001267550.2(TTN):c.107620A>C (p.Ile35874Leu) rs1210579565 0.00001
NM_001267550.2(TTN):c.107627A>G (p.Asn35876Ser) rs750430860 0.00001
NM_001267550.2(TTN):c.107630T>C (p.Met35877Thr) rs375824821 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile) rs764323200 0.00001
NM_001267550.2(TTN):c.107665A>C (p.Lys35889Gln) rs760849988 0.00001
NM_001267550.2(TTN):c.107692A>G (p.Lys35898Glu) rs1028436080 0.00001
NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg) rs977991321 0.00001
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr) rs769141222 0.00001
NM_001267550.2(TTN):c.107774C>T (p.Thr35925Ile) rs755111765 0.00001
NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu) rs763109620 0.00001
NM_001267550.2(TTN):c.107798G>A (p.Gly35933Asp) rs1686762598 0.00001
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg) rs794729572 0.00001
NM_001267550.2(TTN):c.107864C>A (p.Thr35955Asn) rs370267738 0.00001
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu) rs780316966 0.00001
NM_001267550.2(TTN):c.11027C>T (p.Thr3676Met) rs1437975298 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.11461A>G (p.Ile3821Val) rs867402675 0.00001
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly) rs1255499093 0.00001
NM_001267550.2(TTN):c.11678T>C (p.Met3893Thr) rs1553941782 0.00001
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn) rs769466475 0.00001
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser) rs1207560844 0.00001
NM_001267550.2(TTN):c.11706A>G (p.Ile3902Met) rs368845723 0.00001
NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile) rs749320093 0.00001
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001267550.2(TTN):c.12052G>A (p.Gly4018Ser) rs759214389 0.00001
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn) rs758968807 0.00001
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys) rs377114166 0.00001
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg) rs72648920 0.00001
NM_001267550.2(TTN):c.12470C>T (p.Ser4157Phe) rs771706692 0.00001
NM_001267550.2(TTN):c.12484T>C (p.Ser4162Pro) rs548726318 0.00001
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr) rs371669309 0.00001
NM_001267550.2(TTN):c.12830G>A (p.Ser4277Asn) rs878854286 0.00001
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr) rs770187975 0.00001
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val) rs781488193 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.13219G>A (p.Val4407Met) rs539154603 0.00001
NM_001267550.2(TTN):c.13488G>T (p.Gln4496His) rs1383626434 0.00001
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys) rs761901186 0.00001
NM_001267550.2(TTN):c.13555A>G (p.Ile4519Val) rs759140842 0.00001
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly) rs564287456 0.00001
NM_001267550.2(TTN):c.13817C>G (p.Pro4606Arg) rs762079270 0.00001
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe) rs794729602 0.00001
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly) rs781348816 0.00001
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu) rs374361492 0.00001
NM_001267550.2(TTN):c.14092+5G>A rs757575983 0.00001
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser) rs1172448062 0.00001
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser) rs727503705 0.00001
NM_001267550.2(TTN):c.14464C>T (p.Pro4822Ser) rs762428750 0.00001
NM_001267550.2(TTN):c.1446C>T (p.Ala482=) rs183258737 0.00001
NM_001267550.2(TTN):c.14782C>T (p.Leu4928Phe) rs758924238 0.00001
NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter) rs1185562018 0.00001
NM_001267550.2(TTN):c.14983C>T (p.Pro4995Ser) rs776578141 0.00001
NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser) rs143093473 0.00001
NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter) rs1057518470 0.00001
NM_001267550.2(TTN):c.1537-2A>G rs749182164 0.00001
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) rs761269554 0.00001
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr) rs1031284707 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln) rs749816144 0.00001
NM_001267550.2(TTN):c.157G>A (p.Gly53Ser) rs150902810 0.00001
NM_001267550.2(TTN):c.15877A>C (p.Lys5293Gln) rs930814645 0.00001
NM_001267550.2(TTN):c.16058G>A (p.Arg5353Gln) rs751653047 0.00001
NM_001267550.2(TTN):c.16090C>T (p.Arg5364Cys) rs886044310 0.00001
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met) rs372176136 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=) rs754798297 0.00001
NM_001267550.2(TTN):c.16750A>G (p.Ile5584Val) rs368116422 0.00001
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys) rs763708860 0.00001
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter) rs1199616569 0.00001
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp) rs371062603 0.00001
NM_001267550.2(TTN):c.17182+5G>T rs2080545375 0.00001
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu) rs779187099 0.00001
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile) rs751087281 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met) rs770310501 0.00001
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn) rs752660722 0.00001
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) rs928844023 0.00001
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser) rs367942154 0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr) rs1225094303 0.00001
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met) rs1041967765 0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr) rs763665430 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr) rs1365679296 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu) rs201490999 0.00001
NM_001267550.2(TTN):c.1800+4A>G rs998572909 0.00001
NM_001267550.2(TTN):c.18098C>T (p.Ala6033Val) rs771457862 0.00001
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) rs374012753 0.00001
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val) rs368897297 0.00001
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val) rs758380777 0.00001
NM_001267550.2(TTN):c.18589+4C>T rs1449021840 0.00001
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln) rs753281535 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp) rs750368911 0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr) rs1060500581 0.00001
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met) rs537966944 0.00001
NM_001267550.2(TTN):c.1925T>C (p.Ile642Thr) rs772036467 0.00001
NM_001267550.2(TTN):c.19426G>A (p.Asp6476Asn) rs1399156064 0.00001
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) rs373750655 0.00001
NM_001267550.2(TTN):c.19497T>C (p.His6499=) rs1223390157 0.00001
NM_001267550.2(TTN):c.19715-3T>C rs2079629592 0.00001
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys) rs375417679 0.00001
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser) rs751222632 0.00001
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.19994-13C>T rs775393005 0.00001
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala) rs907862282 0.00001
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter) rs2079499416 0.00001
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) rs876658046 0.00001
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe) rs189557659 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.20396G>A (p.Arg6799Gln) rs780069933 0.00001
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro) rs767944090 0.00001
NM_001267550.2(TTN):c.20605G>A (p.Glu6869Lys) rs746830456 0.00001
NM_001267550.2(TTN):c.20692A>G (p.Ser6898Gly) rs878854291 0.00001
NM_001267550.2(TTN):c.20696A>G (p.Glu6899Gly) rs777803266 0.00001
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu) rs375262781 0.00001
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met) rs371824963 0.00001
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met) rs765257439 0.00001
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu) rs753725329 0.00001
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile) rs564660466 0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter) rs576359448 0.00001
NM_001267550.2(TTN):c.2113G>C (p.Val705Leu) rs1320087550 0.00001
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln) rs148072021 0.00001
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro) rs727504741 0.00001
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg) rs786205401 0.00001
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val) rs374625641 0.00001
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=) rs878903172 0.00001
NM_001267550.2(TTN):c.21497T>G (p.Phe7166Cys) rs781740874 0.00001
NM_001267550.2(TTN):c.21574G>A (p.Ala7192Thr) rs1212601280 0.00001
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys) rs1156609638 0.00001
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg) rs878854292 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=) rs775230627 0.00001
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His) rs754432983 0.00001
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) rs876658047 0.00001
NM_001267550.2(TTN):c.22240+14A>G rs1288832655 0.00001
NM_001267550.2(TTN):c.22241-7C>G rs749798825 0.00001
NM_001267550.2(TTN):c.22255C>T (p.Pro7419Ser) rs1486377872 0.00001
NM_001267550.2(TTN):c.22339C>T (p.Pro7447Ser) rs749750693 0.00001
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu) rs139957325 0.00001
NM_001267550.2(TTN):c.22529-7C>A rs769076842 0.00001
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys) rs200677631 0.00001
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter) rs764687326 0.00001
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val) rs886055294 0.00001
NM_001267550.2(TTN):c.22687A>T (p.Ile7563Phe) rs1321824189 0.00001
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile) rs769333723 0.00001
NM_001267550.2(TTN):c.23005A>G (p.Asn7669Asp) rs1060500486 0.00001
NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter) rs372250586 0.00001
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter) rs748111134 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.2354T>C (p.Met785Thr) rs1060500532 0.00001
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu) rs919783694 0.00001
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr) rs138076523 0.00001
NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys) rs786205400 0.00001
NM_001267550.2(TTN):c.2370+3G>A rs377577258 0.00001
NM_001267550.2(TTN):c.2371-1G>A rs755365744 0.00001
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln) rs1161435142 0.00001
NM_001267550.2(TTN):c.23747C>G (p.Pro7916Arg) rs764130233 0.00001
NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys) rs1363515138 0.00001
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln) rs757042397 0.00001
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu) rs773761640 0.00001
NM_001267550.2(TTN):c.24322A>G (p.Lys8108Glu) rs776437978 0.00001
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser) rs753025964 0.00001
NM_001267550.2(TTN):c.24493C>A (p.Leu8165Ile) rs1060500582 0.00001
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met) rs727504961 0.00001
NM_001267550.2(TTN):c.24546T>A (p.Val8182=) rs397517508 0.00001
NM_001267550.2(TTN):c.24563T>C (p.Ile8188Thr) rs1184649078 0.00001
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val) rs747306219 0.00001
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys) rs377762626 0.00001
NM_001267550.2(TTN):c.24839C>T (p.Pro8280Leu) rs375219172 0.00001
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln) rs759985618 0.00001
NM_001267550.2(TTN):c.2494-5T>C rs370759512 0.00001
NM_001267550.2(TTN):c.25036G>A (p.Ala8346Thr) rs755302381 0.00001
NM_001267550.2(TTN):c.25144C>T (p.Arg8382Cys) rs776519143 0.00001
NM_001267550.2(TTN):c.25215T>A (p.Asn8405Lys) rs371923232 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.25383del (p.Lys8461fs) rs1452206214 0.00001
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val) rs1560628327 0.00001
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys) rs369517119 0.00001
NM_001267550.2(TTN):c.25639+2T>G rs769452066 0.00001
NM_001267550.2(TTN):c.25640-4A>G rs886055292 0.00001
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter) rs887577241 0.00001
NM_001267550.2(TTN):c.26030A>G (p.Tyr8677Cys) rs778578388 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.26275A>G (p.Ile8759Val) rs1317485542 0.00001
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg) rs375067750 0.00001
NM_001267550.2(TTN):c.26444C>G (p.Ala8815Gly) rs1168744166 0.00001
NM_001267550.2(TTN):c.26482+1G>C rs1440418037 0.00001
NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg) rs760040495 0.00001
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile) rs72648993 0.00001
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg) rs766862084 0.00001
NM_001267550.2(TTN):c.26989A>G (p.Thr8997Ala) rs953177976 0.00001
NM_001267550.2(TTN):c.27074C>T (p.Pro9025Leu) rs1203714029 0.00001
NM_001267550.2(TTN):c.27158T>C (p.Phe9053Ser) rs761745332 0.00001
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) rs369529493 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27329-1G>T rs1378646156 0.00001
NM_001267550.2(TTN):c.27425C>T (p.Ser9142Leu) rs781609380 0.00001
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe) rs186857044 0.00001
NM_001267550.2(TTN):c.2745C>G (p.Arg915=) rs773568773 0.00001
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) rs769097909 0.00001
NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val) rs765453217 0.00001
NM_001267550.2(TTN):c.27654T>G (p.Val9218=) rs780101457 0.00001
NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro) rs201253546 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met) rs745792278 0.00001
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=) rs778970711 0.00001
NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe) rs777547707 0.00001
NM_001267550.2(TTN):c.27872T>C (p.Phe9291Ser) rs754982924 0.00001
NM_001267550.2(TTN):c.27886+5T>C rs876658050 0.00001
NM_001267550.2(TTN):c.27896T>G (p.Leu9299Arg) rs879046044 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.28011C>T (p.Asp9337=) rs757848062 0.00001
NM_001267550.2(TTN):c.28132C>T (p.Pro9378Ser) rs879082824 0.00001
NM_001267550.2(TTN):c.28207C>G (p.Leu9403Val) rs752742472 0.00001
NM_001267550.2(TTN):c.28308A>C (p.Glu9436Asp) rs906433178 0.00001
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg) rs397517529 0.00001
NM_001267550.2(TTN):c.2836G>A (p.Val946Ile) rs752246051 0.00001
NM_001267550.2(TTN):c.2841G>A (p.Ser947=) rs774074192 0.00001
NM_001267550.2(TTN):c.28424T>G (p.Val9475Gly) rs1363580617 0.00001
NM_001267550.2(TTN):c.28462+3A>G rs1402065855 0.00001
NM_001267550.2(TTN):c.28495C>T (p.Leu9499Phe) rs1060500573 0.00001
NM_001267550.2(TTN):c.28592A>C (p.Asn9531Thr) rs537464608 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.28880G>A (p.Gly9627Asp) rs878908638 0.00001
NM_001267550.2(TTN):c.29134+5G>A rs2075957069 0.00001
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser) rs368073588 0.00001
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp) rs775854531 0.00001
NM_001267550.2(TTN):c.29381_29382del (p.Gln9794fs) rs1290002563 0.00001
NM_001267550.2(TTN):c.295+5G>A rs56310717 0.00001
NM_001267550.2(TTN):c.29502A>G (p.Glu9834=) rs759468315 0.00001
NM_001267550.2(TTN):c.29519G>A (p.Arg9840His) rs558220856 0.00001
NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly) rs794727011 0.00001
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu) rs376548316 0.00001
NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr) rs373651676 0.00001
NM_001267550.2(TTN):c.29777A>C (p.Asn9926Thr) rs377147236 0.00001
NM_001267550.2(TTN):c.29864G>A (p.Arg9955Gln) rs182332374 0.00001
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=) rs781508217 0.00001
NM_001267550.2(TTN):c.30044C>T (p.Pro10015Leu) rs1178694077 0.00001
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln) rs370072382 0.00001
NM_001267550.2(TTN):c.30223+5G>A rs368199297 0.00001
NM_001267550.2(TTN):c.3027C>A (p.Asp1009Glu) rs794729523 0.00001
NM_001267550.2(TTN):c.30511+1G>C rs879082842 0.00001
NM_001267550.2(TTN):c.30605C>T (p.Pro10202Leu) rs769528182 0.00001
NM_001267550.2(TTN):c.30614T>C (p.Val10205Ala) rs1060500449 0.00001
NM_001267550.2(TTN):c.30682+7T>C rs752353097 0.00001
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val) rs727504902 0.00001
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys) rs886055287 0.00001
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr) rs1198546466 0.00001
NM_001267550.2(TTN):c.31295A>G (p.Lys10432Arg) rs879134517 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.31453G>T (p.Val10485Phe) rs762572524 0.00001
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp) rs1338646609 0.00001
NM_001267550.2(TTN):c.31764C>T (p.Val10588=) rs766441395 0.00001
NM_001267550.2(TTN):c.31787T>C (p.Val10596Ala) rs746313065 0.00001
NM_001267550.2(TTN):c.31865G>A (p.Gly10622Glu) rs2071793480 0.00001
NM_001267550.2(TTN):c.32011+15T>G rs886055285 0.00001
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val) rs759873829 0.00001
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu) rs573756163 0.00001
NM_001267550.2(TTN):c.32198-9C>A rs555383226 0.00001
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=) rs747597729 0.00001
NM_001267550.2(TTN):c.32392G>A (p.Val10798Met) rs764015733 0.00001
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val) rs528216574 0.00001
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe) rs753951400 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn) rs370317568 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.32630C>G (p.Pro10877Arg) rs915579403 0.00001
NM_001267550.2(TTN):c.326G>A (p.Arg109Gln) rs766434493 0.00001
NM_001267550.2(TTN):c.32781A>T (p.Lys10927Asn) rs1250259159 0.00001
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325 0.00001
NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val) rs886055284 0.00001
NM_001267550.2(TTN):c.32887+3A>G rs796176592 0.00001
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala) rs776641064 0.00001
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His) rs769393540 0.00001
NM_001267550.2(TTN):c.33172+3A>G rs2069431645 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr) rs545067681 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.33419-2A>C rs756841034 0.00001
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser) rs377760800 0.00001
NM_001267550.2(TTN):c.33580G>A (p.Val11194Met) rs778695102 0.00001
NM_001267550.2(TTN):c.33581-8C>G rs888213772 0.00001
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr) rs769195017 0.00001
NM_001267550.2(TTN):c.33788T>C (p.Val11263Ala) rs748148683 0.00001
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu) rs1336824666 0.00001
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg) rs181375012 0.00001
NM_001267550.2(TTN):c.33890T>A (p.Val11297Glu) rs768802752 0.00001
NM_001267550.2(TTN):c.33911-7T>C rs397517545 0.00001
NM_001267550.2(TTN):c.33961G>A (p.Val11321Ile) rs878854298 0.00001
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=) rs886055281 0.00001
NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp) rs864309575 0.00001
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys) rs765827814 0.00001
NM_001267550.2(TTN):c.34238C>G (p.Pro11413Arg) rs769658955 0.00001
NM_001267550.2(TTN):c.34240G>A (p.Glu11414Lys) rs748080418 0.00001
NM_001267550.2(TTN):c.34247A>T (p.Glu11416Val) rs886055280 0.00001
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln) rs1298237270 0.00001
NM_001267550.2(TTN):c.34446del (p.Ala11483fs) rs1488354536 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.34583C>T (p.Pro11528Leu) rs1553815977 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.34612+3A>G rs371880098 0.00001
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu) rs887706962 0.00001
NM_001267550.2(TTN):c.34820T>C (p.Val11607Ala) rs371203499 0.00001
NM_001267550.2(TTN):c.34826T>C (p.Val11609Ala) rs767524348 0.00001
NM_001267550.2(TTN):c.34969C>T (p.Arg11657Cys) rs1187808745 0.00001
NM_001267550.2(TTN):c.35265A>G (p.Lys11755=) rs774526152 0.00001
NM_001267550.2(TTN):c.35293G>C (p.Glu11765Gln) rs1060500577 0.00001
NM_001267550.2(TTN):c.35294A>G (p.Glu11765Gly) rs1319484684 0.00001
NM_001267550.2(TTN):c.35629+3A>G rs751928755 0.00001
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.36043+6T>C rs765412168 0.00001
NM_001267550.2(TTN):c.3611A>C (p.Glu1204Ala) rs779302369 0.00001
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser) rs200749662 0.00001
NM_001267550.2(TTN):c.36322T>A (p.Ser12108Thr) rs989137248 0.00001
NM_001267550.2(TTN):c.36365-7T>C rs746341489 0.00001
NM_001267550.2(TTN):c.36532G>A (p.Val12178Met) rs1664222065 0.00001
NM_001267550.2(TTN):c.36568A>G (p.Lys12190Glu) rs749339946 0.00001
NM_001267550.2(TTN):c.37208A>C (p.Glu12403Ala) rs878854301 0.00001
NM_001267550.2(TTN):c.3729+4A>G rs1170576212 0.00001
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala) rs1168512202 0.00001
NM_001267550.2(TTN):c.38042C>T (p.Pro12681Leu) rs1553777756 0.00001
NM_001267550.2(TTN):c.38316A>C (p.Glu12772Asp) rs1195550297 0.00001
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu) rs864622709 0.00001
NM_001267550.2(TTN):c.38465-5T>A rs906108078 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.38792-2A>T rs1185808525 0.00001
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr) rs878854302 0.00001
NM_001267550.2(TTN):c.39044-15C>T rs749495580 0.00001
NM_001267550.2(TTN):c.39089C>T (p.Ala13030Val) rs747459623 0.00001
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His) rs770419196 0.00001
NM_001267550.2(TTN):c.39295G>A (p.Val13099Met) rs1394450889 0.00001
NM_001267550.2(TTN):c.39418G>A (p.Ala13140Thr) rs781407045 0.00001
NM_001267550.2(TTN):c.39465G>A (p.Val13155=) rs886055279 0.00001
NM_001267550.2(TTN):c.39547+1G>A rs1335572575 0.00001
NM_001267550.2(TTN):c.39553G>A (p.Glu13185Lys) rs758150185 0.00001
NM_001267550.2(TTN):c.39709+3A>G rs543584748 0.00001
NM_001267550.2(TTN):c.39709+7G>A rs750763722 0.00001
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu) rs762177160 0.00001
NM_001267550.2(TTN):c.39835A>G (p.Lys13279Glu) rs2062656094 0.00001
NM_001267550.2(TTN):c.39851A>G (p.Lys13284Arg) rs768562722 0.00001
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr) rs749860520 0.00001
NM_001267550.2(TTN):c.40126G>A (p.Val13376Ile) rs1060500428 0.00001
NM_001267550.2(TTN):c.40222+6T>C rs1182693405 0.00001
NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly) rs1203373476 0.00001
NM_001267550.2(TTN):c.40349C>T (p.Pro13450Leu) rs372424006 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.40409-3A>C rs1269069315 0.00001
NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu) rs371714559 0.00001
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys) rs528749203 0.00001
NM_001267550.2(TTN):c.40558+4T>C rs398124451 0.00001
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile) rs587780488 0.00001
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly) rs756446770 0.00001
NM_001267550.2(TTN):c.40634-1G>A rs749062863 0.00001
NM_001267550.2(TTN):c.40690A>G (p.Lys13564Glu) rs758942655 0.00001
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=) rs750761966 0.00001
NM_001267550.2(TTN):c.40723+3A>G rs1468033868 0.00001
NM_001267550.2(TTN):c.40766C>T (p.Pro13589Leu) rs200939270 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.40786+3G>A rs551963261 0.00001
NM_001267550.2(TTN):c.40877-3C>A rs746615904 0.00001
NM_001267550.2(TTN):c.40946C>T (p.Pro13649Leu) rs771839127 0.00001
NM_001267550.2(TTN):c.40988G>A (p.Ser13663Asn) rs1060500537 0.00001
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro) rs72650078 0.00001
NM_001267550.2(TTN):c.41146A>G (p.Ile13716Val) rs531807386 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His) rs370878642 0.00001
NM_001267550.2(TTN):c.41428G>A (p.Val13810Met) rs763668057 0.00001
NM_001267550.2(TTN):c.41540C>T (p.Ala13847Val) rs1439068447 0.00001
NM_001267550.2(TTN):c.41620G>A (p.Asp13874Asn) rs770045249 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.416G>A (p.Arg139Gln) rs780003580 0.00001
NM_001267550.2(TTN):c.41745G>A (p.Ala13915=) rs780790022 0.00001
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His) rs540582993 0.00001
NM_001267550.2(TTN):c.41894T>G (p.Val13965Gly) rs878854306 0.00001
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr) rs777451130 0.00001
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln) rs764083952 0.00001
NM_001267550.2(TTN):c.42764G>A (p.Ser14255Asn) rs368433387 0.00001
NM_001267550.2(TTN):c.42769G>A (p.Asp14257Asn) rs746571349 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.42946+3G>A rs763647141 0.00001
NM_001267550.2(TTN):c.42979G>A (p.Gly14327Arg) rs375403946 0.00001
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val) rs758098952 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys) rs1018666766 0.00001
NM_001267550.2(TTN):c.43146G>A (p.Leu14382=) rs751236287 0.00001
NM_001267550.2(TTN):c.43249G>A (p.Val14417Ile) rs906675886 0.00001
NM_001267550.2(TTN):c.43480+3A>T rs1471215133 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.43669G>A (p.Asp14557Asn) rs794729431 0.00001
NM_001267550.2(TTN):c.43717A>G (p.Met14573Val) rs755610701 0.00001
NM_001267550.2(TTN):c.43955T>C (p.Ile14652Thr) rs767038885 0.00001
NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn) rs1339350914 0.00001
NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly) rs773004022 0.00001
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys) rs1293270234 0.00001
NM_001267550.2(TTN):c.44154+6G>T rs794729234 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) rs753053245 0.00001
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met) rs775225695 0.00001
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val) rs753632784 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser) rs774506028 0.00001
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly) rs796961766 0.00001
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val) rs775264673 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr) rs759247684 0.00001
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly) rs748906368 0.00001
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr) rs1060500440 0.00001
NM_001267550.2(TTN):c.45616+1G>C rs1395648308 0.00001
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln) rs548035065 0.00001
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=) rs532009022 0.00001
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly) rs886055274 0.00001
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys) rs774339883 0.00001
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr) rs397517585 0.00001
NM_001267550.2(TTN):c.46169C>T (p.Pro15390Leu) rs879113967 0.00001
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys) rs753664074 0.00001
NM_001267550.2(TTN):c.46371G>C (p.Glu15457Asp) rs764100235 0.00001
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala) rs765557850 0.00001
NM_001267550.2(TTN):c.46521G>C (p.Lys15507Asn) rs781291079 0.00001
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser) rs561728671 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser) rs878854312 0.00001
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile) rs727504878 0.00001
NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile) rs148808516 0.00001
NM_001267550.2(TTN):c.47498T>A (p.Val15833Glu) rs758495958 0.00001
NM_001267550.2(TTN):c.47530C>G (p.Pro15844Ala) rs760956511 0.00001
NM_001267550.2(TTN):c.47684T>C (p.Ile15895Thr) rs768530598 0.00001
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu) rs764059405 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser) rs1012905833 0.00001
NM_001267550.2(TTN):c.47875+12T>G rs758849410 0.00001
NM_001267550.2(TTN):c.47875+6T>C rs780524253 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=) rs779940754 0.00001
NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys) rs758399903 0.00001
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=) rs760816246 0.00001
NM_001267550.2(TTN):c.48119G>A (p.Arg16040His) rs956699957 0.00001
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser) rs534426018 0.00001
NM_001267550.2(TTN):c.48331G>A (p.Asp16111Asn) rs769898196 0.00001
NM_001267550.2(TTN):c.48337G>A (p.Glu16113Lys) rs548275593 0.00001
NM_001267550.2(TTN):c.48409C>T (p.Pro16137Ser) rs879009898 0.00001
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met) rs771120250 0.00001
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu) rs1429263816 0.00001
NM_001267550.2(TTN):c.48560T>G (p.Ile16187Ser) rs777279411 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile) rs1553703631 0.00001
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile) rs754110019 0.00001
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln) rs558487304 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) rs772152172 0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) rs764682084 0.00001
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys) rs397517596 0.00001
NM_001267550.2(TTN):c.49396G>A (p.Ala16466Thr) rs755998484 0.00001
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser) rs879180534 0.00001
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile) rs774495753 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.49834C>T (p.Leu16612Phe) rs750840061 0.00001
NM_001267550.2(TTN):c.49837C>G (p.Pro16613Ala) rs1468557688 0.00001
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=) rs755324231 0.00001
NM_001267550.2(TTN):c.49978G>A (p.Val16660Ile) rs757016105 0.00001
NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr) rs774556838 0.00001
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys) rs140494897 0.00001
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=) rs374138859 0.00001
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr) rs950940404 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn) rs794729239 0.00001
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=) rs763711863 0.00001
NM_001267550.2(TTN):c.50549_50551+5dup rs1060500453 0.00001
NM_001267550.2(TTN):c.50554C>T (p.Pro16852Ser) rs752660748 0.00001
NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe) rs769798880 0.00001
NM_001267550.2(TTN):c.50905G>C (p.Gly16969Arg) rs878854314 0.00001
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn) rs755153359 0.00001
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys) rs773394284 0.00001
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) rs370696020 0.00001
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg) rs757728544 0.00001
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu) rs764792715 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser) rs759285989 0.00001
NM_001267550.2(TTN):c.51593A>G (p.Asn17198Ser) rs766535854 0.00001
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837 0.00001
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys) rs1060500503 0.00001
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser) rs752852690 0.00001
NM_001267550.2(TTN):c.52032T>C (p.His17344=) rs374254751 0.00001
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp) rs759091835 0.00001
NM_001267550.2(TTN):c.52135G>C (p.Glu17379Gln) rs770795675 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.52304T>A (p.Leu17435Gln) rs1060500542 0.00001
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu) rs1356720044 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) rs886055267 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly) rs1401966542 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln) rs766817830 0.00001
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr) rs1553686153 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr) rs370929667 0.00001
NM_001267550.2(TTN):c.53569G>A (p.Val17857Ile) rs1423994048 0.00001
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys) rs1016726284 0.00001
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) rs755252821 0.00001
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys) rs201052994 0.00001
NM_001267550.2(TTN):c.53839G>A (p.Glu17947Lys) rs1445321949 0.00001
NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys) rs369438623 0.00001
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys) rs554701601 0.00001
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg) rs764772164 0.00001
NM_001267550.2(TTN):c.54697G>A (p.Val18233Ile) rs374996996 0.00001
NM_001267550.2(TTN):c.54698T>A (p.Val18233Asp) rs1060500469 0.00001
NM_001267550.2(TTN):c.54700C>A (p.Pro18234Thr) rs1060500416 0.00001
NM_001267550.2(TTN):c.54704G>A (p.Arg18235His) rs750125113 0.00001
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) rs368858337 0.00001
NM_001267550.2(TTN):c.54854C>T (p.Thr18285Met) rs761825854 0.00001
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser) rs1162176452 0.00001
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser) rs774591174 0.00001
NM_001267550.2(TTN):c.55228T>C (p.Ser18410Pro) rs778636992 0.00001
NM_001267550.2(TTN):c.55270-3T>C rs749109513 0.00001
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys) rs756341923 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.55432+3A>G rs1439287309 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn) rs757839460 0.00001
NM_001267550.2(TTN):c.55727C>T (p.Pro18576Leu) rs1362095957 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.55910G>A (p.Arg18637His) rs758627195 0.00001
NM_001267550.2(TTN):c.56050T>C (p.Cys18684Arg) rs761599633 0.00001
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly) rs777956655 0.00001
NM_001267550.2(TTN):c.56264G>A (p.Arg18755His) rs772767570 0.00001
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu) rs745311218 0.00001
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser) rs1363268909 0.00001
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=) rs771353550 0.00001
NM_001267550.2(TTN):c.56524T>C (p.Cys18842Arg) rs371437953 0.00001
NM_001267550.2(TTN):c.56632G>A (p.Ala18878Thr) rs886042564 0.00001
NM_001267550.2(TTN):c.56653C>T (p.Pro18885Ser) rs747971851 0.00001
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro) rs780258242 0.00001
NM_001267550.2(TTN):c.5683C>T (p.His1895Tyr) rs794729577 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) rs876658068 0.00001
NM_001267550.2(TTN):c.5722G>A (p.Gly1908Ser) rs964474432 0.00001
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe) rs727505347 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys) rs375305621 0.00001
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn) rs1009412718 0.00001
NM_001267550.2(TTN):c.57544+4A>G rs869312053 0.00001
NM_001267550.2(TTN):c.57635G>A (p.Gly19212Glu) rs761511119 0.00001
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val) rs56025724 0.00001
NM_001267550.2(TTN):c.5785A>T (p.Ile1929Phe) rs748917796 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001267550.2(TTN):c.5810C>G (p.Ser1937Cys) rs747895202 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro) rs545185154 0.00001
NM_001267550.2(TTN):c.58295G>A (p.Arg19432His) rs745631866 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=) rs749167827 0.00001
NM_001267550.2(TTN):c.58447C>G (p.Pro19483Ala) rs367624056 0.00001
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile) rs765382880 0.00001
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys) rs746319976 0.00001
NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe) rs539868284 0.00001
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln) rs543279513 0.00001
NM_001267550.2(TTN):c.5867A>G (p.Lys1956Arg) rs1554006239 0.00001
NM_001267550.2(TTN):c.58720A>G (p.Lys19574Glu) rs1032128606 0.00001
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala) rs1215190215 0.00001
NM_001267550.2(TTN):c.59294A>T (p.Glu19765Val) rs766141647 0.00001
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) rs771610118 0.00001
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280 0.00001
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val) rs754149259 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=) rs761455000 0.00001
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe) rs774488793 0.00001
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala) rs886039085 0.00001
NM_001267550.2(TTN):c.60302T>C (p.Ile20101Thr) rs777610858 0.00001
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met) rs727504208 0.00001
NM_001267550.2(TTN):c.6043G>A (p.Ala2015Thr) rs776534823 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met) rs375155937 0.00001
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg) rs778953994 0.00001
NM_001267550.2(TTN):c.60934G>A (p.Glu20312Lys) rs759127797 0.00001
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp) rs765839032 0.00001
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe) rs1162158537 0.00001
NM_001267550.2(TTN):c.61073C>T (p.Pro20358Leu) rs751194376 0.00001
NM_001267550.2(TTN):c.61075A>G (p.Ser20359Gly) rs762408700 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met) rs886042497 0.00001
NM_001267550.2(TTN):c.61645A>G (p.Ile20549Val) rs750680415 0.00001
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys) rs371014957 0.00001
NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val) rs759096564 0.00001
NM_001267550.2(TTN):c.61814T>C (p.Ile20605Thr) rs140252432 0.00001
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu) rs759437501 0.00001
NM_001267550.2(TTN):c.62057A>G (p.Tyr20686Cys) rs755470129 0.00001
NM_001267550.2(TTN):c.62214T>G (p.Ile20738Met) rs1388003753 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.62467C>T (p.Arg20823Cys) rs779686013 0.00001
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val) rs369388581 0.00001
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val) rs1060500518 0.00001
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met) rs371004819 0.00001
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr) rs376338324 0.00001
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala) rs538308579 0.00001
NM_001267550.2(TTN):c.62696A>G (p.Tyr20899Cys) rs564111693 0.00001
NM_001267550.2(TTN):c.62699T>C (p.Ile20900Thr) rs770522021 0.00001
NM_001267550.2(TTN):c.62732G>C (p.Trp20911Ser) rs1243863753 0.00001
NM_001267550.2(TTN):c.62848A>G (p.Thr20950Ala) rs748774963 0.00001
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys) rs767887086 0.00001
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His) rs1174185176 0.00001
NM_001267550.2(TTN):c.63131T>C (p.Ile21044Thr) rs529879601 0.00001
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg) rs547169244 0.00001
NM_001267550.2(TTN):c.63187+3A>C rs948908180 0.00001
NM_001267550.2(TTN):c.63187+5G>T rs1292388582 0.00001
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile) rs972090108 0.00001
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe) rs547033801 0.00001
NM_001267550.2(TTN):c.63380G>A (p.Arg21127His) rs201226615 0.00001
NM_001267550.2(TTN):c.63527T>C (p.Leu21176Ser) rs72646854 0.00001
NM_001267550.2(TTN):c.63559A>G (p.Arg21187Gly) rs368288863 0.00001
NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp) rs116158152 0.00001
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) rs776468606 0.00001
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser) rs753121509 0.00001
NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly) rs1218513536 0.00001
NM_001267550.2(TTN):c.64088C>G (p.Pro21363Arg) rs781561933 0.00001
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=) rs768345594 0.00001
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln) rs746903647 0.00001
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr) rs752724337 0.00001
NM_001267550.2(TTN):c.64615C>T (p.Leu21539Phe) rs1060500431 0.00001
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met) rs765913263 0.00001
NM_001267550.2(TTN):c.64887G>C (p.Glu21629Asp) rs779232091 0.00001
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp) rs749576292 0.00001
NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser) rs1553632774 0.00001
NM_001267550.2(TTN):c.64973-12C>G rs918265990 0.00001
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=) rs866763453 0.00001
NM_001267550.2(TTN):c.6508+1G>T rs1373416532 0.00001
NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp) rs371802736 0.00001
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser) rs756099303 0.00001
NM_001267550.2(TTN):c.6517T>G (p.Leu2173Val) rs760798049 0.00001
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val) rs781121273 0.00001
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) rs727503580 0.00001
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg) rs886038921 0.00001
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=) rs1246746665 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.66067G>A (p.Gly22023Ser) rs1060500452 0.00001
NM_001267550.2(TTN):c.66085C>T (p.Arg22029Cys) rs769739080 0.00001
NM_001267550.2(TTN):c.6612A>T (p.Lys2204Asn) rs1060500448 0.00001
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr) rs368042545 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.662T>C (p.Ile221Thr) rs781543487 0.00001
NM_001267550.2(TTN):c.66452G>A (p.Arg22151Gln) rs781750042 0.00001
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) rs777364605 0.00001
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys) rs879016147 0.00001
NM_001267550.2(TTN):c.66552C>T (p.Gly22184=) rs146502705 0.00001
NM_001267550.2(TTN):c.66628C>A (p.Gln22210Lys) rs757047748 0.00001
NM_001267550.2(TTN):c.66668T>C (p.Met22223Thr) rs752794705 0.00001
NM_001267550.2(TTN):c.66669G>A (p.Met22223Ile) rs1049450842 0.00001
NM_001267550.2(TTN):c.66691C>T (p.Arg22231Cys) rs760026147 0.00001
NM_001267550.2(TTN):c.66723T>G (p.Ser22241Arg) rs778956602 0.00001
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met) rs1393150545 0.00001
NM_001267550.2(TTN):c.66769+4A>G rs368682419 0.00001
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp) rs574543857 0.00001
NM_001267550.2(TTN):c.66786A>T (p.Glu22262Asp) rs1022562370 0.00001
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys) rs770627108 0.00001
NM_001267550.2(TTN):c.67001T>C (p.Leu22334Ser) rs758106978 0.00001
NM_001267550.2(TTN):c.67048A>C (p.Lys22350Gln) rs1370592733 0.00001
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu) rs764048936 0.00001
NM_001267550.2(TTN):c.67063C>T (p.Pro22355Ser) rs794729481 0.00001
NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp) rs774568339 0.00001
NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser) rs781562260 0.00001
NM_001267550.2(TTN):c.67208C>T (p.Thr22403Ile) rs767363142 0.00001
NM_001267550.2(TTN):c.67226C>T (p.Ser22409Phe) rs1296710770 0.00001
NM_001267550.2(TTN):c.67300T>A (p.Tyr22434Asn) rs1553623044 0.00001
NM_001267550.2(TTN):c.67328G>A (p.Arg22443His) rs1389670032 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.67348+5G>A rs765587170 0.00001
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe) rs1485610846 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68224+3A>G rs1006017098 0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser) rs764562311 0.00001
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser) rs761226149 0.00001
NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro) rs1359881893 0.00001
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala) rs143679901 0.00001
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser) rs754307416 0.00001
NM_001267550.2(TTN):c.68528-8T>C rs746223377 0.00001
NM_001267550.2(TTN):c.68635G>A (p.Glu22879Lys) rs373765319 0.00001
NM_001267550.2(TTN):c.68678A>G (p.His22893Arg) rs1039583705 0.00001
NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg) rs794729245 0.00001
NM_001267550.2(TTN):c.68824+5G>C rs749639627 0.00001
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro) rs879410317 0.00001
NM_001267550.2(TTN):c.69175C>T (p.Leu23059Phe) rs1394979272 0.00001
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu) rs953796748 0.00001
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) rs879119970 0.00001
NM_001267550.2(TTN):c.69515C>T (p.Thr23172Ile) rs752643010 0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr) rs1554002409 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr) rs746519147 0.00001
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00001
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser) rs756468956 0.00001
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile) rs781015638 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 0.00001
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly) rs1194442496 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70240G>T (p.Val23414Phe) rs759158138 0.00001
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu) rs200029470 0.00001
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu) rs794729486 0.00001
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val) rs549938348 0.00001
NM_001267550.2(TTN):c.70564G>A (p.Glu23522Lys) rs561586925 0.00001
NM_001267550.2(TTN):c.70595C>T (p.Ala23532Val) rs1389381134 0.00001
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met) rs754040141 0.00001
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro) rs886055249 0.00001
NM_001267550.2(TTN):c.70964T>C (p.Ile23655Thr) rs794729488 0.00001
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu) rs1060500459 0.00001
NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr) rs752317656 0.00001
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys) rs754516257 0.00001
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys) rs775743818 0.00001
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=) rs373388052 0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912 0.00001
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn) rs771783837 0.00001
NM_001267550.2(TTN):c.71729G>A (p.Ser23910Asn) rs1060500509 0.00001
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp) rs748041610 0.00001
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr) rs1386956312 0.00001
NM_001267550.2(TTN):c.72363C>G (p.Asp24121Glu) rs919790172 0.00001
NM_001267550.2(TTN):c.72394G>A (p.Val24132Ile) rs727504188 0.00001
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn) rs1383990376 0.00001
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) rs778284888 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.72785G>A (p.Arg24262His) rs372390659 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001267550.2(TTN):c.72863C>G (p.Thr24288Arg) rs878997916 0.00001
NM_001267550.2(TTN):c.73021T>G (p.Ser24341Ala) rs1397935154 0.00001
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val) rs1051443527 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.73258G>A (p.Glu24420Lys) rs1265445775 0.00001
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly) rs573355547 0.00001
NM_001267550.2(TTN):c.73930G>A (p.Gly24644Arg) rs1553606142 0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu) rs1362423521 0.00001
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His) rs376988498 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.74189G>A (p.Gly24730Asp) rs781046518 0.00001
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys) rs369489704 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.74482C>G (p.Leu24828Val) rs375181431 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) rs200131545 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.75016C>T (p.Pro25006Ser) rs1264279589 0.00001
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln) rs369559000 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His) rs542720402 0.00001
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) rs748412838 0.00001
NM_001267550.2(TTN):c.7516C>G (p.Arg2506Gly) rs780415493 0.00001
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln) rs758719859 0.00001
NM_001267550.2(TTN):c.75238C>T (p.Arg25080Trp) rs1370877041 0.00001
NM_001267550.2(TTN):c.75329G>A (p.Arg25110Gln) rs757674072 0.00001
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys) rs116049561 0.00001
NM_001267550.2(TTN):c.75366G>A (p.Val25122=) rs750424357 0.00001
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=) rs886055246 0.00001
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=) rs770708534 0.00001
NM_001267550.2(TTN):c.75934G>A (p.Glu25312Lys) rs770655678 0.00001
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr) rs201776072 0.00001
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu) rs758581188 0.00001
NM_001267550.2(TTN):c.7600A>G (p.Lys2534Glu) rs767167863 0.00001
NM_001267550.2(TTN):c.76030C>T (p.Arg25344Trp) rs371696090 0.00001
NM_001267550.2(TTN):c.76064A>G (p.His25355Arg) rs1399292028 0.00001
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys) rs757511354 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.76168C>T (p.Pro25390Ser) rs878948198 0.00001
NM_001267550.2(TTN):c.76238A>G (p.Lys25413Arg) rs367696053 0.00001
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile) rs773127796 0.00001
NM_001267550.2(TTN):c.76541T>C (p.Leu25514Pro) rs1553601755 0.00001
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524 0.00001
NM_001267550.2(TTN):c.76577G>A (p.Gly25526Asp) rs369344156 0.00001
NM_001267550.2(TTN):c.76672G>T (p.Asp25558Tyr) rs750336110 0.00001
NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr) rs747031357 0.00001
NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val) rs760386525 0.00001
NM_001267550.2(TTN):c.76949C>A (p.Ala25650Asp) rs886042780 0.00001
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala) rs370768049 0.00001
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys) rs755800765 0.00001
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met) rs755225678 0.00001
NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val) rs745981754 0.00001
NM_001267550.2(TTN):c.77329A>G (p.Lys25777Glu) rs778484596 0.00001
NM_001267550.2(TTN):c.77510C>T (p.Pro25837Leu) rs752618930 0.00001
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245 0.00001
NM_001267550.2(TTN):c.77623G>A (p.Val25875Ile) rs763284241 0.00001
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile) rs1332594097 0.00001
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) rs747430905 0.00001
NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met) rs1226545466 0.00001
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr) rs764016233 0.00001
NM_001267550.2(TTN):c.77821G>A (p.Val25941Ile) rs928158833 0.00001
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp) rs745801476 0.00001
NM_001267550.2(TTN):c.77999C>T (p.Thr26000Ile) rs794729506 0.00001
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=) rs935809232 0.00001
NM_001267550.2(TTN):c.78231C>A (p.Ser26077Arg) rs1553596375 0.00001
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys) rs373530641 0.00001
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu) rs727505241 0.00001
NM_001267550.2(TTN):c.78654T>C (p.His26218=) rs886055244 0.00001
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=) rs375454098 0.00001
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr) rs727505049 0.00001
NM_001267550.2(TTN):c.79264A>G (p.Ile26422Val) rs1553590996 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.7952_7953dup (p.Trp2652fs) rs1340562376 0.00001
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala) rs775053902 0.00001
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln) rs771534555 0.00001
NM_001267550.2(TTN):c.79768C>T (p.Pro26590Ser) rs767838835 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile) rs375605062 0.00001
NM_001267550.2(TTN):c.80145C>G (p.Val26715=) rs761074887 0.00001
NM_001267550.2(TTN):c.80170G>A (p.Glu26724Lys) rs367812761 0.00001
NM_001267550.2(TTN):c.80185G>C (p.Ala26729Pro) rs1252013447 0.00001
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00001
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr) rs761384994 0.00001
NM_001267550.2(TTN):c.80414A>C (p.Glu26805Ala) rs370095455 0.00001
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln) rs898433512 0.00001
NM_001267550.2(TTN):c.80704C>T (p.Pro26902Ser) rs1024262797 0.00001
NM_001267550.2(TTN):c.80726C>T (p.Pro26909Leu) rs1553581878 0.00001
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile) rs780885076 0.00001
NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser) rs780082683 0.00001
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=) rs539234338 0.00001
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala) rs373857878 0.00001
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val) rs369908251 0.00001
NM_001267550.2(TTN):c.81347G>A (p.Ser27116Asn) rs1234317183 0.00001
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg) rs727504678 0.00001
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) rs749305586 0.00001
NM_001267550.2(TTN):c.81653T>C (p.Met27218Thr) rs1332904652 0.00001
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys) rs371592971 0.00001
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) rs746488250 0.00001
NM_001267550.2(TTN):c.82060G>A (p.Val27354Ile) rs878854336 0.00001
NM_001267550.2(TTN):c.82064G>A (p.Gly27355Asp) rs1474733241 0.00001
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266 0.00001
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys) rs774715672 0.00001
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) rs886055240 0.00001
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr) rs886055239 0.00001
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg) rs937111656 0.00001
NM_001267550.2(TTN):c.82457T>C (p.Met27486Thr) rs746435098 0.00001
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=) rs775673876 0.00001
NM_001267550.2(TTN):c.82561A>G (p.Lys27521Glu) rs1060500417 0.00001
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys) rs727503556 0.00001
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) rs72648214 0.00001
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00001
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His) rs766522109 0.00001
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp) rs373745130 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln) rs776136653 0.00001
NM_001267550.2(TTN):c.83218G>A (p.Asp27740Asn) rs776130801 0.00001
NM_001267550.2(TTN):c.83227C>T (p.Arg27743Trp) rs1185542536 0.00001
NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln) rs768262273 0.00001
NM_001267550.2(TTN):c.83252A>G (p.Asn27751Ser) rs775527437 0.00001
NM_001267550.2(TTN):c.83351C>T (p.Thr27784Met) rs140879454 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr) rs397517723 0.00001
NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys) rs527624888 0.00001
NM_001267550.2(TTN):c.83649G>C (p.Lys27883Asn) rs878854337 0.00001
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg) rs886055236 0.00001
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=) rs755164013 0.00001
NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr) rs751728774 0.00001
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=) rs766611189 0.00001
NM_001267550.2(TTN):c.84011A>G (p.Lys28004Arg) rs776987640 0.00001
NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val) rs900858263 0.00001
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) rs539595292 0.00001
NM_001267550.2(TTN):c.84335C>T (p.Thr28112Ile) rs1429490203 0.00001
NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr) rs1468127080 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly) rs751860205 0.00001
NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val) rs1553564661 0.00001
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys) rs879123930 0.00001
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys) rs776756769 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala) rs147895770 0.00001
NM_001267550.2(TTN):c.85036A>C (p.Ile28346Leu) rs912296403 0.00001
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp) rs770787056 0.00001
NM_001267550.2(TTN):c.85204G>A (p.Ala28402Thr) rs1060500439 0.00001
NM_001267550.2(TTN):c.85328T>A (p.Val28443Asp) rs1703365236 0.00001
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=) rs886055235 0.00001
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp) rs727505194 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.86009T>C (p.Ile28670Thr) rs1703105655 0.00001
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00001
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=) rs886055233 0.00001
NM_001267550.2(TTN):c.8648A>G (p.His2883Arg) rs753833148 0.00001
NM_001267550.2(TTN):c.864C>T (p.His288=) rs772543040 0.00001
NM_001267550.2(TTN):c.86821+3A>G rs1010541689 0.00001
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala) rs748587720 0.00001
NM_001267550.2(TTN):c.86846T>C (p.Leu28949Pro) rs745542033 0.00001
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile) rs750591986 0.00001
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) rs876658090 0.00001
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr) rs768120552 0.00001
NM_001267550.2(TTN):c.8713G>A (p.Val2905Met) rs369380469 0.00001
NM_001267550.2(TTN):c.87387C>G (p.Phe29129Leu) rs1335641292 0.00001
NM_001267550.2(TTN):c.87836G>C (p.Arg29279Thr) rs773541746 0.00001
NM_001267550.2(TTN):c.88009+5G>A rs148231754 0.00001
NM_001267550.2(TTN):c.88063T>C (p.Ser29355Pro) rs768443497 0.00001
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys) rs756679529 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.88163C>T (p.Thr29388Ile) rs775200192 0.00001
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His) rs143193258 0.00001
NM_001267550.2(TTN):c.88667G>A (p.Arg29556Gln) rs1207034709 0.00001
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln) rs755212831 0.00001
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp) rs750981091 0.00001
NM_001267550.2(TTN):c.88933A>T (p.Ile29645Phe) rs746067385 0.00001
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=) rs201658018 0.00001
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn) rs794729525 0.00001
NM_001267550.2(TTN):c.89114A>G (p.Gln29705Arg) rs752538734 0.00001
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala) rs1454670479 0.00001
NM_001267550.2(TTN):c.8921T>C (p.Met2974Thr) rs899464143 0.00001
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp) rs112777680 0.00001
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) rs201620815 0.00001
NM_001267550.2(TTN):c.8954C>G (p.Thr2985Ser) rs1553992057 0.00001
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp) rs774885355 0.00001
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu) rs397517743 0.00001
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe) rs180798672 0.00001
NM_001267550.2(TTN):c.8987G>T (p.Gly2996Val) rs779053650 0.00001
NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val) rs117097948 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.90041G>A (p.Gly30014Glu) rs1359003253 0.00001
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys) rs397517747 0.00001
NM_001267550.2(TTN):c.90149G>C (p.Ser30050Thr) rs752534032 0.00001
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn) rs886039117 0.00001
NM_001267550.2(TTN):c.90161C>T (p.Pro30054Leu) rs767891763 0.00001
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del) rs758914867 0.00001
NM_001267550.2(TTN):c.90441C>A (p.His30147Gln) rs72648242 0.00001
NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala) rs768528782 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91022T>A (p.Met30341Lys) rs1379791737 0.00001
NM_001267550.2(TTN):c.91160C>T (p.Thr30387Ile) rs754591100 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.91277C>T (p.Pro30426Leu) rs774454485 0.00001
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp) rs751610164 0.00001
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln) rs794729529 0.00001
NM_001267550.2(TTN):c.91475A>G (p.Tyr30492Cys) rs769678577 0.00001
NM_001267550.2(TTN):c.91536T>A (p.Ser30512=) rs769873625 0.00001
NM_001267550.2(TTN):c.9163+3A>G rs760597240 0.00001
NM_001267550.2(TTN):c.9164-9del rs752677873 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.91915C>G (p.Leu30639Val) rs373049260 0.00001
NM_001267550.2(TTN):c.9200T>C (p.Ile3067Thr) rs1435097269 0.00001
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) rs545632095 0.00001
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys) rs376537509 0.00001
NM_001267550.2(TTN):c.92381A>G (p.His30794Arg) rs773998423 0.00001
NM_001267550.2(TTN):c.92449G>C (p.Glu30817Gln) rs529196025 0.00001
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile) rs376287060 0.00001
NM_001267550.2(TTN):c.92520A>T (p.Leu30840Phe) rs772574748 0.00001
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg) rs1206527 0.00001
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr) rs1045877862 0.00001
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr) rs777150584 0.00001
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp) rs754767262 0.00001
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu) rs148676491 0.00001
NM_001267550.2(TTN):c.9305+4A>C rs746628782 0.00001
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln) rs766391515 0.00001
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val) rs1023137329 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=) rs377521708 0.00001
NM_001267550.2(TTN):c.93683A>G (p.Lys31228Arg) rs368714667 0.00001
NM_001267550.2(TTN):c.93866C>A (p.Thr31289Asn) rs371666313 0.00001
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly) rs201344229 0.00001
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) rs727503549 0.00001
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser) rs751185223 0.00001
NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala) rs772833696 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln) rs141093658 0.00001
NM_001267550.2(TTN):c.94502T>C (p.Ile31501Thr) rs758756316 0.00001
NM_001267550.2(TTN):c.94559G>A (p.Arg31520Lys) rs879111902 0.00001
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=) rs764363274 0.00001
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His) rs920039018 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.94773C>T (p.Gly31591=) rs897518524 0.00001
NM_001267550.2(TTN):c.94807G>T (p.Val31603Phe) rs1060500567 0.00001
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr) rs751714990 0.00001
NM_001267550.2(TTN):c.94985T>A (p.Val31662Asp) rs1164809267 0.00001
NM_001267550.2(TTN):c.9502T>G (p.Phe3168Val) rs746038856 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.95111A>G (p.Lys31704Arg) rs754379972 0.00001
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His) rs1360232560 0.00001
NM_001267550.2(TTN):c.95219T>C (p.Ile31740Thr) rs200781956 0.00001
NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly) rs886042114 0.00001
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys) rs727505342 0.00001
NM_001267550.2(TTN):c.95368C>T (p.Pro31790Ser) rs1235693684 0.00001
NM_001267550.2(TTN):c.95413T>C (p.Phe31805Leu) rs537065526 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.95497T>A (p.Ser31833Thr) rs764271138 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys) rs752756889 0.00001
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg) rs757129504 0.00001
NM_001267550.2(TTN):c.95645G>A (p.Arg31882Gln) rs767746607 0.00001
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser) rs199618831 0.00001
NM_001267550.2(TTN):c.95765C>G (p.Thr31922Ser) rs769771566 0.00001
NM_001267550.2(TTN):c.95824G>A (p.Val31942Ile) rs757627281 0.00001
NM_001267550.2(TTN):c.95829A>G (p.Gly31943=) rs572618111 0.00001
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys) rs776682000 0.00001
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.9642T>A (p.Asp3214Glu) rs368323634 0.00001
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=) rs776263585 0.00001
NM_001267550.2(TTN):c.96592C>G (p.Leu32198Val) rs752075170 0.00001
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn) rs770101398 0.00001
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln) rs755082341 0.00001
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe) rs889392294 0.00001
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly) rs1060500578 0.00001
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) rs727504981 0.00001
NM_001267550.2(TTN):c.97003C>T (p.Pro32335Ser) rs779886174 0.00001
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys) rs727504879 0.00001
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser) rs748682168 0.00001
NM_001267550.2(TTN):c.97192+4A>G rs370069759 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001267550.2(TTN):c.971C>T (p.Pro324Leu) rs939333996 0.00001
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) rs750047570 0.00001
NM_001267550.2(TTN):c.97405G>A (p.Glu32469Lys) rs1280768790 0.00001
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys) rs371924787 0.00001
NM_001267550.2(TTN):c.97426G>A (p.Ala32476Thr) rs760169773 0.00001
NM_001267550.2(TTN):c.974T>C (p.Leu325Ser) rs755076118 0.00001
NM_001267550.2(TTN):c.97586C>A (p.Ser32529Tyr) rs1060500480 0.00001
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) rs761050391 0.00001
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His) rs535876380 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg) rs373959972 0.00001
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val) rs372075164 0.00001
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile) rs944963846 0.00001
NM_001267550.2(TTN):c.97910T>C (p.Ile32637Thr) rs794729547 0.00001
NM_001267550.2(TTN):c.97943C>A (p.Thr32648Asn) rs775309560 0.00001
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn) rs773776767 0.00001
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser) rs753058072 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.98237G>A (p.Ser32746Asn) rs1410694267 0.00001
NM_001267550.2(TTN):c.98426A>C (p.Gln32809Pro) rs1060500398 0.00001
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly) rs150288160 0.00001
NM_001267550.2(TTN):c.98687C>T (p.Pro32896Leu) rs1335232513 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys) rs1407053984 0.00001
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr) rs727504962 0.00001
NM_001267550.2(TTN):c.98907G>C (p.Gln32969His) rs1018386868 0.00001
NM_001267550.2(TTN):c.99062A>G (p.Lys33021Arg) rs749757136 0.00001
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676 0.00001
NM_001267550.2(TTN):c.99160A>C (p.Lys33054Gln) rs1553507202 0.00001
NM_001267550.2(TTN):c.99176C>T (p.Thr33059Ile) rs1038769207 0.00001
NM_001267550.2(TTN):c.9918G>A (p.Ala3306=) rs533798702 0.00001
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile) rs1060500530 0.00001
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly) rs770098799 0.00001
NM_001267550.2(TTN):c.9983T>C (p.Val3328Ala) rs1060500412 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu) rs1553503789 0.00001
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln) rs749608883 0.00001
NM_001278293.3(ARL6):c.*309T>C rs2038100273 0.00001
NM_001278293.3(ARL6):c.-146T>C rs886058937 0.00001
NM_001278293.3(ARL6):c.168G>C (p.Glu56Asp) rs1295586318 0.00001
NM_001278293.3(ARL6):c.197C>T (p.Thr66Ile) rs150667690 0.00001
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His) rs749599192 0.00001
NM_001278293.3(ARL6):c.306G>A (p.Met102Ile) rs763779778 0.00001
NM_001278293.3(ARL6):c.307G>T (p.Val103Phe) rs774150149 0.00001
NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg) rs2037383699 0.00001
NM_001278293.3(ARL6):c.344A>G (p.His115Arg) rs1238121913 0.00001
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) rs202044896 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001278293.3(ARL6):c.418T>C (p.Ser140Pro) rs1463393274 0.00001
NM_001278293.3(ARL6):c.430T>C (p.Ser144Pro) rs1418049586 0.00001
NM_001278293.3(ARL6):c.471G>C (p.Trp157Cys) rs1559687672 0.00001
NM_001278293.3(ARL6):c.538C>T (p.Gln180Ter) rs201105839 0.00001
NM_001278293.3(ARL6):c.550G>T (p.Val184Leu) rs1389543975 0.00001
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val) rs762936013 0.00001
NM_001283009.2(RTEL1):c.1103C>T (p.Ser368Leu) rs765792997 0.00001
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met) rs371141081 0.00001
NM_001283009.2(RTEL1):c.1183A>G (p.Ile395Val) rs1355147182 0.00001
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys) rs1417269541 0.00001
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn) rs758640195 0.00001
NM_001283009.2(RTEL1):c.1331C>G (p.Thr444Ser) rs763825991 0.00001
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn) rs755129499 0.00001
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln) rs779873020 0.00001
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1414G>A (p.Val472Ile) rs941024707 0.00001
NM_001283009.2(RTEL1):c.1417C>T (p.Arg473Cys) rs1409999749 0.00001
NM_001283009.2(RTEL1):c.1460C>T (p.Ser487Phe) rs764219586 0.00001
NM_001283009.2(RTEL1):c.1546G>A (p.Val516Ile) rs748223349 0.00001
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu) rs1189892333 0.00001
NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp) rs1601164606 0.00001
NM_001283009.2(RTEL1):c.1742A>G (p.Lys581Arg) rs376161950 0.00001
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val) rs779562019 0.00001
NM_001283009.2(RTEL1):c.1789A>G (p.Ser597Gly) rs774400247 0.00001
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln) rs763415620 0.00001
NM_001283009.2(RTEL1):c.1862C>T (p.Ala621Val) rs535749230 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.1906A>G (p.Thr636Ala) rs749428089 0.00001
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met) rs200847054 0.00001
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln) rs146544609 0.00001
NM_001283009.2(RTEL1):c.1931C>T (p.Thr644Met) rs1258123825 0.00001
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe) rs1323023332 0.00001
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu) rs773159241 0.00001
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys) rs747831615 0.00001
NM_001283009.2(RTEL1):c.2023C>A (p.Gln675Lys) rs772605324 0.00001
NM_001283009.2(RTEL1):c.2090G>T (p.Arg697Leu) rs1176364985 0.00001
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His) rs1035926074 0.00001
NM_001283009.2(RTEL1):c.2140A>G (p.Arg714Gly) rs1156625021 0.00001
NM_001283009.2(RTEL1):c.2141+4C>T rs780002400 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2158G>A (p.Ala720Thr) rs755928414 0.00001
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser) rs774311444 0.00001
NM_001283009.2(RTEL1):c.2266-3C>T rs200536844 0.00001
NM_001283009.2(RTEL1):c.2297C>A (p.Pro766His) rs2090705111 0.00001
NM_001283009.2(RTEL1):c.230A>G (p.Gln77Arg) rs771462323 0.00001
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu) rs761805038 0.00001
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala) rs756711633 0.00001
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln) rs774640608 0.00001
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly) rs761063091 0.00001
NM_001283009.2(RTEL1):c.2567G>C (p.Cys856Ser) rs1398820483 0.00001
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp) rs1465417616 0.00001
NM_001283009.2(RTEL1):c.2590G>A (p.Glu864Lys) rs369777001 0.00001
NM_001283009.2(RTEL1):c.2620G>A (p.Gly874Arg) rs781632993 0.00001
NM_001283009.2(RTEL1):c.2635C>T (p.Arg879Trp) rs142877871 0.00001
NM_001283009.2(RTEL1):c.2669G>A (p.Gly890Asp) rs1243516442 0.00001
NM_001283009.2(RTEL1):c.2672C>T (p.Ala891Val) rs761295679 0.00001
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly) rs1394884130 0.00001
NM_001283009.2(RTEL1):c.2728G>C (p.Ala910Pro) rs751106916 0.00001
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His) rs754727644 0.00001
NM_001283009.2(RTEL1):c.2733C>A (p.Asn911Lys) rs372027131 0.00001
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu) rs755652402 0.00001
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn) rs369357121 0.00001
NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr) rs371721039 0.00001
NM_001283009.2(RTEL1):c.2789C>T (p.Ala930Val) rs745711145 0.00001
NM_001283009.2(RTEL1):c.2798C>T (p.Ala933Val) rs541761600 0.00001
NM_001283009.2(RTEL1):c.2801G>T (p.Cys934Phe) rs1263651818 0.00001
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val) rs750311914 0.00001
NM_001283009.2(RTEL1):c.2852G>T (p.Gly951Val) rs925928624 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001283009.2(RTEL1):c.2870G>A (p.Arg957Gln) rs753270617 0.00001
NM_001283009.2(RTEL1):c.2923G>C (p.Gly975Arg) rs754293748 0.00001
NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg) rs1340326956 0.00001
NM_001283009.2(RTEL1):c.2963A>G (p.Gln988Arg) rs1357930914 0.00001
NM_001283009.2(RTEL1):c.29C>T (p.Thr10Ile) rs751168157 0.00001
NM_001283009.2(RTEL1):c.3026C>T (p.Ser1009Phe) rs1026729377 0.00001
NM_001283009.2(RTEL1):c.3037G>A (p.Ala1013Thr) rs142568980 0.00001
NM_001283009.2(RTEL1):c.3073G>A (p.Gly1025Ser) rs1483445218 0.00001
NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr) rs1368646805 0.00001
NM_001283009.2(RTEL1):c.3110-4C>G rs1417877726 0.00001
NM_001283009.2(RTEL1):c.3115C>T (p.Pro1039Ser) rs976592801 0.00001
NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser) rs368303890 0.00001
NM_001283009.2(RTEL1):c.3154G>A (p.Ala1052Thr) rs1266676069 0.00001
NM_001283009.2(RTEL1):c.3157G>C (p.Gly1053Arg) rs1321802859 0.00001
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr) rs773397014 0.00001
NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val) rs373448481 0.00001
NM_001283009.2(RTEL1):c.3196G>A (p.Asp1066Asn) rs748671796 0.00001
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr) rs780364760 0.00001
NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr) rs781481182 0.00001
NM_001283009.2(RTEL1):c.3254C>T (p.Ala1085Val) rs771545243 0.00001
NM_001283009.2(RTEL1):c.3301G>A (p.Ala1101Thr) rs746445840 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3332C>T (p.Pro1111Leu) rs746179380 0.00001
NM_001283009.2(RTEL1):c.3379C>T (p.Arg1127Cys) rs745614952 0.00001
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His) rs771768208 0.00001
NM_001283009.2(RTEL1):c.3391A>T (p.Thr1131Ser) rs1471853155 0.00001
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe) rs200622914 0.00001
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu) rs746759990 0.00001
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg) rs769538947 0.00001
NM_001283009.2(RTEL1):c.3530C>T (p.Thr1177Ile) rs755098827 0.00001
NM_001283009.2(RTEL1):c.3536G>A (p.Ser1179Asn) rs1350306450 0.00001
NM_001283009.2(RTEL1):c.3594G>C (p.Glu1198Asp) rs1440306935 0.00001
NM_001283009.2(RTEL1):c.3640G>A (p.Ala1214Thr) rs1247941163 0.00001
NM_001283009.2(RTEL1):c.3672C>G (p.Asp1224Glu) rs779295227 0.00001
NM_001283009.2(RTEL1):c.3676G>A (p.Ala1226Thr) rs371373011 0.00001
NM_001283009.2(RTEL1):c.3811C>T (p.Arg1271Trp) rs993254667 0.00001
NM_001283009.2(RTEL1):c.3812G>A (p.Arg1271Gln) rs754719045 0.00001
NM_001283009.2(RTEL1):c.3823-3C>T rs1242643276 0.00001
NM_001283009.2(RTEL1):c.3853G>A (p.Ala1285Thr) rs760281201 0.00001
NM_001283009.2(RTEL1):c.3875T>G (p.Met1292Arg) rs2090967240 0.00001
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln) rs762587175 0.00001
NM_001283009.2(RTEL1):c.396-31C>T rs562173928 0.00001
NM_001283009.2(RTEL1):c.396-48G>A rs1274609500 0.00001
NM_001283009.2(RTEL1):c.436A>G (p.Ile146Val) rs1420390084 0.00001
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu) rs1234907654 0.00001
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His) rs750794827 0.00001
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile) rs184051277 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.563C>T (p.Ala188Val) rs1258972797 0.00001
NM_001283009.2(RTEL1):c.596A>G (p.Lys199Arg) rs1377331597 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn) rs776356655 0.00001
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys) rs866782181 0.00001
NM_001283009.2(RTEL1):c.739G>A (p.Val247Met) rs1194320122 0.00001
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr) rs1555901763 0.00001
NM_001283009.2(RTEL1):c.883C>A (p.Pro295Thr) rs755010352 0.00001
NM_001283009.2(RTEL1):c.905A>G (p.Asp302Gly) rs776979963 0.00001
NM_001283009.2(RTEL1):c.983C>G (p.Ala328Gly) rs561033103 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) rs1007369140 0.00001
NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr) rs894980888 0.00001
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn) rs1314382019 0.00001
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) rs1017790030 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NM_001304438.2(TMEM132E):c.809G>A (p.Arg270His) rs570477617 0.00001
NM_001329943.3(KIAA0586):c.*10G>A rs1280881561 0.00001
NM_001329943.3(KIAA0586):c.*24del rs775748329 0.00001
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) rs781781110 0.00001
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) rs769423672 0.00001
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156 0.00001
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) rs1406399353 0.00001
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) rs932782936 0.00001
NM_001329943.3(KIAA0586):c.1253+4A>G rs1182604650 0.00001
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) rs757196467 0.00001
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) rs779792778 0.00001
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) rs746704306 0.00001
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) rs778123212 0.00001
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) rs1445118511 0.00001
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) rs753917457 0.00001
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) rs1173352052 0.00001
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) rs747120591 0.00001
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) rs1020004939 0.00001
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) rs1297075839 0.00001
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) rs1039498791 0.00001
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) rs1595193868 0.00001
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) rs1047721846 0.00001
NM_001329943.3(KIAA0586):c.199+6T>A rs764690540 0.00001
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) rs547990270 0.00001
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) rs371583234 0.00001
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) rs558410911 0.00001
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) rs1200934389 0.00001
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) rs373601253 0.00001
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) rs1190897774 0.00001
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) rs1267499182 0.00001
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) rs773759282 0.00001
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) rs922088604 0.00001
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) rs955530356 0.00001
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) rs377409718 0.00001
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) rs377023593 0.00001
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) rs1338718674 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) rs1261333772 0.00001
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) rs752882356 0.00001
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340 0.00001
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) rs768032063 0.00001
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) rs943207254 0.00001
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) rs368808852 0.00001
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) rs754818478 0.00001
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) rs563109987 0.00001
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) rs369859399 0.00001
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) rs772489368 0.00001
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) rs766060506 0.00001
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) rs373431045 0.00001
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) rs773159825 0.00001
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) rs758962196 0.00001
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) rs1413013409 0.00001
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) rs751729993 0.00001
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) rs755937342 0.00001
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) rs199517530 0.00001
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) rs1190269049 0.00001
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) rs910865335 0.00001
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) rs539304161 0.00001
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) rs560315226 0.00001
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) rs201889432 0.00001
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) rs1223415414 0.00001
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) rs1256817386 0.00001
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) rs1256644781 0.00001
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) rs1019828731 0.00001
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) rs779179754 0.00001
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) rs1441855459 0.00001
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) rs966912655 0.00001
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) rs912168236 0.00001
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) rs775143643 0.00001
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) rs1446993944 0.00001
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) rs1188851321 0.00001
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) rs752429234 0.00001
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) rs1015444951 0.00001
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) rs754191741 0.00001
NM_001329943.3(KIAA0586):c.4496-3808A>C rs181384924 0.00001
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) rs1476732636 0.00001
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) rs371910625 0.00001
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) rs540188519 0.00001
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) rs1260723288 0.00001
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) rs758886732 0.00001
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) rs375374719 0.00001
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) rs779062959 0.00001
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) rs780198735 0.00001
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) rs772425621 0.00001
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) rs1372486181 0.00001
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) rs765495285 0.00001
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) rs751564059 0.00001
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) rs1297972335 0.00001
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu) rs372305836 0.00001
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys) rs1384400002 0.00001
NM_001351132.2(PEX5):c.*403C>T rs886049828 0.00001
NM_001351132.2(PEX5):c.*506T>C rs756345606 0.00001
NM_001351132.2(PEX5):c.*932A>T rs1329909340 0.00001
NM_001351132.2(PEX5):c.-17+102G>C rs747187521 0.00001
NM_001351132.2(PEX5):c.-17+240G>A rs754651589 0.00001
NM_001351132.2(PEX5):c.-17+249C>T rs939041822 0.00001
NM_001351132.2(PEX5):c.-17+65C>G rs1437620977 0.00001
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln) rs892031813 0.00001
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp) rs746001175 0.00001
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro) rs1220028381 0.00001
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp) rs971400240 0.00001
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu) rs764934631 0.00001
NM_001351132.2(PEX5):c.1111-12A>G rs371599161 0.00001
NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser) rs781410836 0.00001
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val) rs1218031120 0.00001
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp) rs765682048 0.00001
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln) rs144901507 0.00001
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly) rs372992555 0.00001
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=) rs778715159 0.00001
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser) rs1190413911 0.00001
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His) rs758827048 0.00001
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val) rs375947901 0.00001
NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu) rs779806201 0.00001
NM_001351132.2(PEX5):c.149C>T (p.Ala50Val) rs1311355339 0.00001
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn) rs775935095 0.00001
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=) rs762815657 0.00001
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=) rs140330381 0.00001
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp) rs760402644 0.00001
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys) rs1169699895 0.00001
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp) rs1281539463 0.00001
NM_001351132.2(PEX5):c.1718+6A>C rs764840661 0.00001
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln) rs776481733 0.00001
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=) rs753159772 0.00001
NM_001351132.2(PEX5):c.177A>C (p.Glu59Asp) rs755469133 0.00001
NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp) rs772805558 0.00001
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro) rs1245227342 0.00001
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys) rs372635542 0.00001
NM_001351132.2(PEX5):c.1831T>G (p.Leu611Val) rs200266963 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln) rs762252851 0.00001
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn) rs1941048067 0.00001
NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser) rs769373976 0.00001
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys) rs747725502 0.00001
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp) rs374327439 0.00001
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg) rs398123571 0.00001
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys) rs1354610463 0.00001
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro) rs777324636 0.00001
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val) rs1940802625 0.00001
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val) rs768332537 0.00001
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys) rs1175995959 0.00001
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys) rs746104983 0.00001
NM_001351132.2(PEX5):c.548G>A (p.Arg183His) rs772215584 0.00001
NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser) rs1410451415 0.00001
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly) rs1011160954 0.00001
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser) rs771879452 0.00001
NM_001351132.2(PEX5):c.750G>C (p.Gln250His) rs1239267747 0.00001
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile) rs747765156 0.00001
NM_001351132.2(PEX5):c.78G>C (p.Gln26His) rs1940818656 0.00001
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile) rs759083753 0.00001
NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln) rs190526209 0.00001
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met) rs770028664 0.00001
NM_001351132.2(PEX5):c.967-3dup rs777815209 0.00001
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser) rs1311867918 0.00001
NM_001366722.1(GRIP1):c.*821T>G rs867272684 0.00001
NM_001366722.1(GRIP1):c.*93A>G rs1284400061 0.00001
NM_001366722.1(GRIP1):c.1269G>A (p.Gly423=) rs539858835 0.00001
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) rs753454152 0.00001
NM_001366722.1(GRIP1):c.1471G>A (p.Val491Met) rs745834706 0.00001
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) rs760273176 0.00001
NM_001366722.1(GRIP1):c.2849G>A (p.Arg950Gln) rs755528209 0.00001
NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser) rs771473441 0.00001
NM_001366722.1(GRIP1):c.872+7A>G rs886049798 0.00001
NM_001367624.2(ZNF469):c.*649C>G rs561472955 0.00001
NM_001367624.2(ZNF469):c.*664C>T rs886052423 0.00001
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656 0.00001
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) rs957402222 0.00001
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761 0.00001
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met) rs749374208 0.00001
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln) rs886052395 0.00001
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=) rs767431034 0.00001
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=) rs886052398 0.00001
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399 0.00001
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) rs756703220 0.00001
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr) rs903409672 0.00001
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu) rs886052402 0.00001
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly) rs886052389 0.00001
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile) rs768667107 0.00001
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) rs571207087 0.00001
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=) rs370190101 0.00001
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929 0.00001
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg) rs886052408 0.00001
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409 0.00001
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met) rs553909579 0.00001
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr) rs886052410 0.00001
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=) rs766581620 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=) rs886052416 0.00001
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp) rs886052417 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) rs887755283 0.00001
NM_001374426.1(PEX10):c.-321+1018G>T rs1257096968 0.00001
NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) rs1327123712 0.00001
NM_001374623.1(PNPLA1):c.1469+10C>G rs373131816 0.00001
NM_001374623.1(PNPLA1):c.1595+550A>G rs373548589 0.00001
NM_001374623.1(PNPLA1):c.1595+842C>T rs759813381 0.00001
NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) rs749816424 0.00001
NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=) rs886061374 0.00001
NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) rs1231123861 0.00001
NM_001376256.1(CRYM):c.10G>T (p.Val4Leu) rs766675674 0.00001
NM_001378454.1(ALMS1):c.-19C>T rs1553396078 0.00001
NM_001378454.1(ALMS1):c.-20G>A rs935547269 0.00001
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg) rs746923506 0.00001
NM_001378454.1(ALMS1):c.10070A>G (p.Glu3357Gly) rs776497929 0.00001
NM_001378454.1(ALMS1):c.10078+2dup rs755740074 0.00001
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn) rs1553416873 0.00001
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val) rs905527689 0.00001
NM_001378454.1(ALMS1):c.10177G>A (p.Ala3393Thr) rs145678202 0.00001
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu) rs1473998334 0.00001
NM_001378454.1(ALMS1):c.10212A>G (p.Ala3404=) rs755401614 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val) rs781411724 0.00001
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys) rs1279080725 0.00001
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln) rs1003992652 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10334C>T (p.Pro3445Leu) rs1170663588 0.00001
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.10384+6G>A rs1343830351 0.00001
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys) rs893973875 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg) rs1433521854 0.00001
NM_001378454.1(ALMS1):c.10493A>G (p.His3498Arg) rs759463622 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.10527T>G (p.His3509Gln) rs1332733899 0.00001
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln) rs563989825 0.00001
NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val) rs767343226 0.00001
NM_001378454.1(ALMS1):c.10545T>A (p.Phe3515Leu) rs750147146 0.00001
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr) rs778304579 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819 0.00001
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349 0.00001
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala) rs746126446 0.00001
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys) rs773091397 0.00001
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly) rs779029779 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10883G>A (p.Arg3628Gln) rs763549947 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys) rs750422041 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln) rs188864796 0.00001
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr) rs749624694 0.00001
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu) rs765505349 0.00001
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn) rs756136080 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu) rs948097402 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser) rs762682178 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11440A>G (p.Asn3814Asp) rs369256893 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00001
NM_001378454.1(ALMS1):c.11468G>A (p.Arg3823Gln) rs377572047 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg) rs777912782 0.00001
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515 0.00001
NM_001378454.1(ALMS1):c.11547+4C>T rs753353269 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr) rs753182165 0.00001
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg) rs1675626491 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112 0.00001
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610 0.00001
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182 0.00001
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509 0.00001
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp) rs45486496 0.00001
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys) rs1356118595 0.00001
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu) rs553786370 0.00001
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp) rs1205653574 0.00001
NM_001378454.1(ALMS1):c.11873-11G>A rs571456553 0.00001
NM_001378454.1(ALMS1):c.11873-6C>T rs749542120 0.00001
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met) rs185423930 0.00001
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp) rs199989044 0.00001
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp) rs1016477755 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12172C>T (p.Arg4058Cys) rs1270753573 0.00001
NM_001378454.1(ALMS1):c.12208A>C (p.Ser4070Arg) rs1306398275 0.00001
NM_001378454.1(ALMS1):c.12217C>A (p.Gln4073Lys) rs774835325 0.00001
NM_001378454.1(ALMS1):c.12221C>G (p.Thr4074Ser) rs762223937 0.00001
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp) rs779618627 0.00001
NM_001378454.1(ALMS1):c.12280T>C (p.Cys4094Arg) rs1280037324 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala) rs1558624684 0.00001
NM_001378454.1(ALMS1):c.12312C>G (p.Ile4104Met) rs761844893 0.00001
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala) rs372734481 0.00001
NM_001378454.1(ALMS1):c.1235C>T (p.Thr412Ile) rs369637082 0.00001
NM_001378454.1(ALMS1):c.12362+5G>C rs771226996 0.00001
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp) rs963466695 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu) rs779259646 0.00001
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile) rs752828644 0.00001
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser) rs267599450 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp) rs1260367236 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly) rs777458464 0.00001
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys) rs1232628050 0.00001
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu) rs1409680993 0.00001
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys) rs751415466 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.145G>A (p.Glu49Lys) rs1476182899 0.00001
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly) rs771835386 0.00001
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr) rs976096963 0.00001
NM_001378454.1(ALMS1):c.1588A>G (p.Thr530Ala) rs778268073 0.00001
NM_001378454.1(ALMS1):c.159G>C (p.Glu53Asp) rs1245177160 0.00001
NM_001378454.1(ALMS1):c.1636C>T (p.His546Tyr) rs1671845179 0.00001
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287 0.00001
NM_001378454.1(ALMS1):c.1645G>C (p.Glu549Gln) rs1203221115 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.173C>G (p.Ser58Cys) rs748571359 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn) rs1447523847 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys) rs757131983 0.00001
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly) rs1446915143 0.00001
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys) rs923816827 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886 0.00001
NM_001378454.1(ALMS1):c.2236A>G (p.Thr746Ala) rs1339477380 0.00001
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys) rs377000488 0.00001
NM_001378454.1(ALMS1):c.2348T>C (p.Leu783Pro) rs1671866214 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.2443G>C (p.Glu815Gln) rs370978261 0.00001
NM_001378454.1(ALMS1):c.244G>C (p.Ala82Pro) rs1453391868 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.2477T>G (p.Leu826Arg) rs1343407616 0.00001
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387 0.00001
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg) rs374788400 0.00001
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala) rs777811953 0.00001
NM_001378454.1(ALMS1):c.2576C>T (p.Ala859Val) rs749219852 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg) rs1671873298 0.00001
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437 0.00001
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn) rs756206965 0.00001
NM_001378454.1(ALMS1):c.2713T>A (p.Ser905Thr) rs1473358206 0.00001
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524 0.00001
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro) rs751883638 0.00001
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile) rs576877900 0.00001
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys) rs1259661145 0.00001
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319 0.00001
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile) rs1240072348 0.00001
NM_001378454.1(ALMS1):c.2992G>A (p.Val998Ile) rs374849950 0.00001
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn) rs1448665150 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser) rs1267229357 0.00001
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu) rs1574424130 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val) rs1402063104 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3352A>G (p.Lys1118Glu) rs770713526 0.00001
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu) rs1180431442 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe) rs1052797474 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr) rs756748918 0.00001
NM_001378454.1(ALMS1):c.3563T>C (p.Leu1188Pro) rs745802005 0.00001
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=) rs768478218 0.00001
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys) rs772706904 0.00001
NM_001378454.1(ALMS1):c.3623G>A (p.Gly1208Asp) rs765685207 0.00001
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys) rs757838184 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg) rs1332453858 0.00001
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990 0.00001
NM_001378454.1(ALMS1):c.3770A>G (p.His1257Arg) rs770555189 0.00001
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg) rs1394932968 0.00001
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr) rs756453260 0.00001
NM_001378454.1(ALMS1):c.3982A>G (p.Ile1328Val) rs1045211044 0.00001
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp) rs780314593 0.00001
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594 0.00001
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp) rs1439442789 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp) rs748293128 0.00001
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln) rs768816557 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.4379G>T (p.Gly1460Val) rs776345925 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 0.00001
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 0.00001
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile) rs779113815 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.4476G>T (p.Glu1492Asp) rs745623990 0.00001
NM_001378454.1(ALMS1):c.450+3A>G rs1371008925 0.00001
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser) rs1233912426 0.00001
NM_001378454.1(ALMS1):c.4610C>A (p.Ala1537Glu) rs766908325 0.00001
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro) rs368273962 0.00001
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro) rs745859143 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.466C>T (p.His156Tyr) rs750004908 0.00001
NM_001378454.1(ALMS1):c.4691C>A (p.Pro1564Gln) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg) rs773841585 0.00001
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe) rs765461259 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn) rs925686650 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr) rs371903967 0.00001
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met) rs763324131 0.00001
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr) rs754804407 0.00001
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg) rs372540975 0.00001
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln) rs199520788 0.00001
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys) rs776002916 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val) rs773107767 0.00001
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019 0.00001
NM_001378454.1(ALMS1):c.5042A>G (p.Asp1681Gly) rs765044083 0.00001
NM_001378454.1(ALMS1):c.5054C>G (p.Pro1685Arg) rs1671941104 0.00001
NM_001378454.1(ALMS1):c.5077C>T (p.Pro1693Ser) rs1671941473 0.00001
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu) rs756796770 0.00001
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly) rs760638961 0.00001
NM_001378454.1(ALMS1):c.516G>T (p.Gln172His) rs767428243 0.00001
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His) rs1402153419 0.00001
NM_001378454.1(ALMS1):c.5173G>T (p.Ala1725Ser) rs763052163 0.00001
NM_001378454.1(ALMS1):c.5179C>G (p.Pro1727Ala) rs935844541 0.00001
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile) rs1163075641 0.00001
NM_001378454.1(ALMS1):c.5258C>T (p.Thr1753Ile) rs954287768 0.00001
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val) rs1179437667 0.00001
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120 0.00001
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054 0.00001
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp) rs1671948778 0.00001
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro) rs1188079304 0.00001
NM_001378454.1(ALMS1):c.5360A>T (p.Asn1787Ile) rs1671949458 0.00001
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly) rs1257660889 0.00001
NM_001378454.1(ALMS1):c.543T>A (p.Asp181Glu) rs1029393339 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg) rs574696548 0.00001
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His) rs1044951470 0.00001
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala) rs375830111 0.00001
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys) rs372714431 0.00001
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile) rs762339692 0.00001
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro) rs760035952 0.00001
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr) rs1288519568 0.00001
NM_001378454.1(ALMS1):c.5758G>A (p.Val1920Ile) rs373489525 0.00001
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val) rs545488125 0.00001
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu) rs772665115 0.00001
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg) rs376161519 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp) rs1196949061 0.00001
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala) rs552496175 0.00001
NM_001378454.1(ALMS1):c.5921C>G (p.Ala1974Gly) rs563067980 0.00001
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly) rs778684767 0.00001
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly) rs1209226433 0.00001
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249 0.00001
NM_001378454.1(ALMS1):c.6033T>G (p.Phe2011Leu) rs1671969545 0.00001
NM_001378454.1(ALMS1):c.6049A>G (p.Ser2017Gly) rs1021572525 0.00001
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu) rs372116790 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg) rs367904732 0.00001
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg) rs780566681 0.00001
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val) rs747108462 0.00001
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn) rs183773481 0.00001
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu) rs886042711 0.00001
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr) rs749979595 0.00001
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg) rs1381524403 0.00001
NM_001378454.1(ALMS1):c.6229G>A (p.Val2077Ile) rs779402813 0.00001
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser) rs771084714 0.00001
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly) rs1671977745 0.00001
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138 0.00001
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser) rs772858451 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.647-5T>C rs913268523 0.00001
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser) rs772943318 0.00001
NM_001378454.1(ALMS1):c.6478C>T (p.His2160Tyr) rs1479606549 0.00001
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val) rs1200119538 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu) rs776108315 0.00001
NM_001378454.1(ALMS1):c.6538G>A (p.Gly2180Arg) rs145953016 0.00001
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser) rs752016657 0.00001
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu) rs1671984408 0.00001
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile) rs371544118 0.00001
NM_001378454.1(ALMS1):c.6620A>G (p.Asp2207Gly) rs756953806 0.00001
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile) rs1026749292 0.00001
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu) rs769322538 0.00001
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro) rs768229118 0.00001
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala) rs772620985 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser) rs1273490920 0.00001
NM_001378454.1(ALMS1):c.6889T>A (p.Ser2297Thr) rs771228376 0.00001
NM_001378454.1(ALMS1):c.6902T>C (p.Val2301Ala) rs759819986 0.00001
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038 0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497 0.00001
NM_001378454.1(ALMS1):c.7079G>C (p.Arg2360Thr) rs1402057300 0.00001
NM_001378454.1(ALMS1):c.7172A>T (p.Glu2391Val) rs368310126 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.7411G>A (p.Gly2471Ser) rs1019293474 0.00001
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile) rs772752104 0.00001
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met) rs754242152 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7541-15A>G rs1169514054 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg) rs763422515 0.00001
NM_001378454.1(ALMS1):c.764+4G>A rs1167438151 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val) rs199831059 0.00001
NM_001378454.1(ALMS1):c.7714G>A (p.Ala2572Thr) rs1171656515 0.00001
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly) rs369122370 0.00001
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr) rs754585700 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly) rs769890820 0.00001
NM_001378454.1(ALMS1):c.7850A>G (p.Gln2617Arg) rs749293224 0.00001
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser) rs776280658 0.00001
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506 0.00001
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu) rs769405720 0.00001
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe) rs761272792 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro) rs1245467740 0.00001
NM_001378454.1(ALMS1):c.8162G>A (p.Arg2721Gln) rs745857579 0.00001
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala) rs200859630 0.00001
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu) rs878855002 0.00001
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro) rs768782274 0.00001
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly) rs1255060538 0.00001
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln) rs780066739 0.00001
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu) rs751296181 0.00001
NM_001378454.1(ALMS1):c.8488T>A (p.Cys2830Ser) rs993209212 0.00001
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile) rs1183007080 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.8638A>G (p.Ile2880Val) rs767384464 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg) rs755823751 0.00001
NM_001378454.1(ALMS1):c.8686G>A (p.Ala2896Thr) rs779240181 0.00001
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.8758T>C (p.Ser2920Pro) rs1398652795 0.00001
NM_001378454.1(ALMS1):c.8794C>G (p.Gln2932Glu) rs757528252 0.00001
NM_001378454.1(ALMS1):c.8842C>T (p.Pro2948Ser) rs1171275378 0.00001
NM_001378454.1(ALMS1):c.8849C>A (p.Pro2950His) rs777913623 0.00001
NM_001378454.1(ALMS1):c.8864C>G (p.Ser2955Cys) rs1248081824 0.00001
NM_001378454.1(ALMS1):c.8875G>C (p.Asp2959His) rs375254366 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro) rs1465260699 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr) rs773480197 0.00001
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val) rs754181473 0.00001
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser) rs752792682 0.00001
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro) rs866416012 0.00001
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg) rs778324244 0.00001
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser) rs1434010689 0.00001
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His) rs1022898016 0.00001
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu) rs1394971174 0.00001
NM_001378454.1(ALMS1):c.9292A>T (p.Thr3098Ser) rs1280854716 0.00001
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile) rs764937531 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala) rs45493191 0.00001
NM_001378454.1(ALMS1):c.9442C>A (p.Gln3148Lys) rs917667192 0.00001
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val) rs761831256 0.00001
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser) rs1396386580 0.00001
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His) rs1233763940 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln) rs772197358 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu) rs1475730829 0.00001
NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=) rs769786449 0.00001
NM_001378454.1(ALMS1):c.9581A>G (p.Glu3194Gly) rs1673634547 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys) rs763730338 0.00001
NM_001378454.1(ALMS1):c.9628G>A (p.Glu3210Lys) rs961373884 0.00001
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu) rs770987613 0.00001
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val) rs575305602 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His) rs765685958 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.9757G>T (p.Val3253Phe) rs751917932 0.00001
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro) rs1553412796 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys) rs375515965 0.00001
NM_001378454.1(ALMS1):c.9808C>T (p.Pro3270Ser) rs1673992958 0.00001
NM_001378454.1(ALMS1):c.9830A>G (p.Tyr3277Cys) rs200826787 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr) rs1230531336 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378615.1(CC2D2A):c.*94T>C rs1296848672 0.00001
NM_001378615.1(CC2D2A):c.1018-11T>C rs200340261 0.00001
NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr) rs368669579 0.00001
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142 0.00001
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu) rs759126033 0.00001
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His) rs886059139 0.00001
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu) rs533830027 0.00001
NM_001378615.1(CC2D2A):c.2487-6T>C rs767335431 0.00001
NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe) rs765820512 0.00001
NM_001378615.1(CC2D2A):c.2526A>G (p.Thr842=) rs886059158 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3015-9A>C rs1010285962 0.00001
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181 0.00001
NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val) rs763775613 0.00001
NM_001378615.1(CC2D2A):c.3398+7A>G rs772784324 0.00001
NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) rs1392733763 0.00001
NM_001378615.1(CC2D2A):c.4675-12T>G rs769761582 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001378615.1(CC2D2A):c.880G>C (p.Val294Leu) rs201986486 0.00001
NM_001378615.1(CC2D2A):c.971G>A (p.Arg324His) rs113371687 0.00001
NM_001379180.1(ESRRB):c.*1398C>T rs755771149 0.00001
NM_001379180.1(ESRRB):c.*2702A>C rs1303057558 0.00001
NM_001379180.1(ESRRB):c.*2765A>G rs576730553 0.00001
NM_001379180.1(ESRRB):c.*2859T>A rs187244352 0.00001
NM_001379180.1(ESRRB):c.1119C>T (p.Ser373=) rs545480530 0.00001
NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys) rs1477346091 0.00001
NM_001379180.1(ESRRB):c.480C>T (p.Cys160=) rs886050805 0.00001
NM_001379286.1(ZNF423):c.1069G>A (p.Asp357Asn) rs1045777723 0.00001
NM_001379286.1(ZNF423):c.1096G>A (p.Asp366Asn) rs760969654 0.00001
NM_001379286.1(ZNF423):c.1147A>G (p.Ser383Gly) rs748635194 0.00001
NM_001379286.1(ZNF423):c.1162C>T (p.Arg388Cys) rs985841675 0.00001
NM_001379286.1(ZNF423):c.1163G>A (p.Arg388His) rs756448653 0.00001
NM_001379286.1(ZNF423):c.1209G>C (p.Lys403Asn) rs749784412 0.00001
NM_001379286.1(ZNF423):c.1211A>C (p.Lys404Thr) rs780583844 0.00001
NM_001379286.1(ZNF423):c.1225G>A (p.Gly409Arg) rs757406757 0.00001
NM_001379286.1(ZNF423):c.1246G>T (p.Val416Phe) rs752582625 0.00001
NM_001379286.1(ZNF423):c.1273C>T (p.Arg425Trp) rs772823132 0.00001
NM_001379286.1(ZNF423):c.1274G>A (p.Arg425Gln) rs150550744 0.00001
NM_001379286.1(ZNF423):c.127G>A (p.Asp43Asn) rs200725224 0.00001
NM_001379286.1(ZNF423):c.1294G>A (p.Val432Met) rs375353056 0.00001
NM_001379286.1(ZNF423):c.1390C>T (p.Leu464Phe) rs889768836 0.00001
NM_001379286.1(ZNF423):c.1405C>T (p.Arg469Cys) rs569507095 0.00001
NM_001379286.1(ZNF423):c.1442A>C (p.Gln481Pro) rs190632028 0.00001
NM_001379286.1(ZNF423):c.1459G>A (p.Ala487Thr) rs763675078 0.00001
NM_001379286.1(ZNF423):c.1502A>G (p.Asn501Ser) rs1364183755 0.00001
NM_001379286.1(ZNF423):c.1525G>A (p.Val509Ile) rs750249389 0.00001
NM_001379286.1(ZNF423):c.1546G>A (p.Ala516Thr) rs1363154257 0.00001
NM_001379286.1(ZNF423):c.1624G>A (p.Glu542Lys) rs749382074 0.00001
NM_001379286.1(ZNF423):c.1676C>T (p.Pro559Leu) rs764775118 0.00001
NM_001379286.1(ZNF423):c.1732A>T (p.Asn578Tyr) rs1347110204 0.00001
NM_001379286.1(ZNF423):c.1844C>T (p.Ser615Leu) rs754474774 0.00001
NM_001379286.1(ZNF423):c.1849G>A (p.Asp617Asn) rs762299767 0.00001
NM_001379286.1(ZNF423):c.1901C>T (p.Ser634Phe) rs1244650326 0.00001
NM_001379286.1(ZNF423):c.2003G>A (p.Arg668Gln) rs200218868 0.00001
NM_001379286.1(ZNF423):c.2192C>T (p.Thr731Ile) rs1322106218 0.00001
NM_001379286.1(ZNF423):c.220A>G (p.Ile74Val) rs2033148726 0.00001
NM_001379286.1(ZNF423):c.2276G>A (p.Arg759His) rs143285873 0.00001
NM_001379286.1(ZNF423):c.2402A>G (p.Glu801Gly) rs369122179 0.00001
NM_001379286.1(ZNF423):c.2548G>A (p.Ala850Thr) rs768539056 0.00001
NM_001379286.1(ZNF423):c.255G>T (p.Glu85Asp) rs755507056 0.00001
NM_001379286.1(ZNF423):c.2621C>T (p.Pro874Leu) rs959264947 0.00001
NM_001379286.1(ZNF423):c.272C>T (p.Thr91Met) rs200710667 0.00001
NM_001379286.1(ZNF423):c.2743C>T (p.Arg915Trp) rs544721667 0.00001
NM_001379286.1(ZNF423):c.2860C>T (p.Arg954Trp) rs781748351 0.00001
NM_001379286.1(ZNF423):c.2881C>T (p.Arg961Trp) rs372390262 0.00001
NM_001379286.1(ZNF423):c.2882G>A (p.Arg961Gln) rs750544885 0.00001
NM_001379286.1(ZNF423):c.2900A>G (p.Tyr967Cys) rs760522262 0.00001
NM_001379286.1(ZNF423):c.2924G>A (p.Arg975His) rs771703239 0.00001
NM_001379286.1(ZNF423):c.295C>G (p.Pro99Ala) rs1290786208 0.00001
NM_001379286.1(ZNF423):c.3035T>C (p.Ile1012Thr) rs368801417 0.00001
NM_001379286.1(ZNF423):c.3077C>T (p.Thr1026Met) rs138264499 0.00001
NM_001379286.1(ZNF423):c.3208A>G (p.Lys1070Glu) rs1555514762 0.00001
NM_001379286.1(ZNF423):c.3223G>A (p.Ala1075Thr) rs774865680 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_001379286.1(ZNF423):c.3277A>C (p.Asn1093His) rs1239902492 0.00001
NM_001379286.1(ZNF423):c.3286C>G (p.Pro1096Ala) rs765925395 0.00001
NM_001379286.1(ZNF423):c.3322G>A (p.Ala1108Thr) rs778755872 0.00001
NM_001379286.1(ZNF423):c.3338G>A (p.Gly1113Asp) rs749927500 0.00001
NM_001379286.1(ZNF423):c.3346G>C (p.Ala1116Pro) rs946073012 0.00001
NM_001379286.1(ZNF423):c.3364G>A (p.Asp1122Asn) rs771960577 0.00001
NM_001379286.1(ZNF423):c.3367C>T (p.Arg1123Trp) rs189165264 0.00001
NM_001379286.1(ZNF423):c.338C>T (p.Ser113Leu) rs982065747 0.00001
NM_001379286.1(ZNF423):c.3416G>A (p.Ser1139Asn) rs1972667949 0.00001
NM_001379286.1(ZNF423):c.3484C>T (p.Arg1162Trp) rs754257608 0.00001
NM_001379286.1(ZNF423):c.3516+4A>G rs1972662103 0.00001
NM_001379286.1(ZNF423):c.3691G>A (p.Glu1231Lys) rs752885477 0.00001
NM_001379286.1(ZNF423):c.3809C>T (p.Ser1270Leu) rs1237889339 0.00001
NM_001379286.1(ZNF423):c.382G>A (p.Gly128Arg) rs1246829131 0.00001
NM_001379286.1(ZNF423):c.3849+6T>A rs1340098894 0.00001
NM_001379286.1(ZNF423):c.3872C>T (p.Ala1291Val) rs774591168 0.00001
NM_001379286.1(ZNF423):c.40+33052G>A rs762790858 0.00001
NM_001379286.1(ZNF423):c.40+33060A>C rs1423494389 0.00001
NM_001379286.1(ZNF423):c.40+33065G>C rs776265059 0.00001
NM_001379286.1(ZNF423):c.409G>A (p.Glu137Lys) rs747342689 0.00001
NM_001379286.1(ZNF423):c.469C>T (p.Arg157Cys) rs753806781 0.00001
NM_001379286.1(ZNF423):c.518C>T (p.Pro173Leu) rs1352235005 0.00001
NM_001379286.1(ZNF423):c.52G>C (p.Glu18Gln) rs770110323 0.00001
NM_001379286.1(ZNF423):c.68C>T (p.Ser23Leu) rs377503772 0.00001
NM_001379286.1(ZNF423):c.712G>A (p.Gly238Ser) rs780153015 0.00001
NM_001379286.1(ZNF423):c.731C>T (p.Ser244Leu) rs368934122 0.00001
NM_001379286.1(ZNF423):c.73G>A (p.Ala25Thr) rs777866403 0.00001
NM_001379286.1(ZNF423):c.743A>G (p.His248Arg) rs757086620 0.00001
NM_001379286.1(ZNF423):c.829G>A (p.Glu277Lys) rs745876102 0.00001
NM_001379286.1(ZNF423):c.88G>A (p.Val30Met) rs778893500 0.00001
NM_001379286.1(ZNF423):c.91A>G (p.Thr31Ala) rs201626636 0.00001
NM_001379286.1(ZNF423):c.940G>A (p.Asp314Asn) rs763435948 0.00001
NM_001379286.1(ZNF423):c.974C>T (p.Ala325Val) rs570889309 0.00001
NM_001382391.1(CSPP1):c.-102G>A rs1805078439 0.00001
NM_001382391.1(CSPP1):c.-116C>T rs371071297 0.00001
NM_001382391.1(CSPP1):c.-140C>G rs770993498 0.00001
NM_001382391.1(CSPP1):c.-146T>A rs749476046 0.00001
NM_001382391.1(CSPP1):c.-75C>T rs918221746 0.00001
NM_001382391.1(CSPP1):c.100-3C>T rs919525492 0.00001
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) rs1395802185 0.00001
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) rs1445583372 0.00001
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) rs1037020711 0.00001
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) rs1231591915 0.00001
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) rs1460794902 0.00001
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) rs974893054 0.00001
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) rs1438276592 0.00001
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) rs755596091 0.00001
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) rs1818321960 0.00001
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) rs778430027 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) rs375900507 0.00001
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) rs768395830 0.00001
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) rs1818416279 0.00001
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) rs754153035 0.00001
NM_001382391.1(CSPP1):c.1827+3A>G rs1449112719 0.00001
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) rs527674289 0.00001
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) rs1822579573 0.00001
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) rs760288983 0.00001
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) rs1452211221 0.00001
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) rs1212455505 0.00001
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) rs1822600510 0.00001
NM_001382391.1(CSPP1):c.199+13A>G rs756283251 0.00001
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) rs1420249213 0.00001
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) rs968055651 0.00001
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) rs769707621 0.00001
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) rs751023936 0.00001
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) rs780885390 0.00001
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) rs577752590 0.00001
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) rs201974031 0.00001
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) rs1826216893 0.00001
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) rs769971911 0.00001
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) rs760013419 0.00001
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) rs1421808533 0.00001
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) rs1251717089 0.00001
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) rs765955382 0.00001
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) rs769473253 0.00001
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) rs1332974255 0.00001
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) rs894040195 0.00001
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) rs1828816022 0.00001
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) rs746260241 0.00001
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) rs764280843 0.00001
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) rs772949501 0.00001
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) rs373151997 0.00001
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) rs377493480 0.00001
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) rs370720351 0.00001
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) rs1381482450 0.00001
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) rs1282726257 0.00001
NM_001382391.1(CSPP1):c.2829-3T>C rs1830657246 0.00001
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) rs1162661826 0.00001
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) rs745710780 0.00001
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) rs766939685 0.00001
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) rs1384362094 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_001382391.1(CSPP1):c.3109+5G>C rs772586492 0.00001
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) rs370238037 0.00001
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) rs766496985 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) rs1368965128 0.00001
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) rs778723931 0.00001
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) rs758825560 0.00001
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) rs778293599 0.00001
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) rs537833447 0.00001
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) rs1017040124 0.00001
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) rs1158377033 0.00001
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) rs766061975 0.00001
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) rs1170601676 0.00001
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) rs752140903 0.00001
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) rs748165041 0.00001
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) rs1241589485 0.00001
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) rs936435444 0.00001
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) rs377160929 0.00001
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) rs1395114211 0.00001
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) rs772650396 0.00001
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) rs762548335 0.00001
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) rs747784602 0.00001
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) rs1339065259 0.00001
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) rs752084244 0.00001
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) rs748917623 0.00001
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) rs1369528194 0.00001
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) rs764343140 0.00001
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) rs374738280 0.00001
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) rs1173092063 0.00001
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) rs754454865 0.00001
NM_001384140.1(PCDH15):c.1007G>A (p.Arg336Gln) rs370442031 0.00001
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936 0.00001
NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=) rs1484114119 0.00001
NM_001384140.1(PCDH15):c.1180T>C (p.Tyr394His) rs778369017 0.00001
NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu) rs1410944616 0.00001
NM_001384140.1(PCDH15):c.1244C>T (p.Ser415Leu) rs747154146 0.00001
NM_001384140.1(PCDH15):c.1268C>T (p.Pro423Leu) rs2049537464 0.00001
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala) rs142698812 0.00001
NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=) rs763593526 0.00001
NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys) rs201284699 0.00001
NM_001384140.1(PCDH15):c.1439C>T (p.Ser480Leu) rs1281151581 0.00001
NM_001384140.1(PCDH15):c.1440+11T>G rs781463273 0.00001
NM_001384140.1(PCDH15):c.1440+7A>C rs540070936 0.00001
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala) rs570048496 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066 0.00001
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg) rs764162624 0.00001
NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=) rs1252259548 0.00001
NM_001384140.1(PCDH15):c.1808T>C (p.Ile603Thr) rs893216164 0.00001
NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp) rs771456526 0.00001
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg) rs200226791 0.00001
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys) rs139104747 0.00001
NM_001384140.1(PCDH15):c.1898C>T (p.Ala633Val) rs1475018348 0.00001
NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu) rs757098609 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=) rs201636125 0.00001
NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly) rs765443935 0.00001
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234 0.00001
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453 0.00001
NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly) rs200430672 0.00001
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=) rs768200772 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=) rs759471464 0.00001
NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=) rs886047064 0.00001
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu) rs771024131 0.00001
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly) rs1223956690 0.00001
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys) rs780335938 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=) rs776720353 0.00001
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=) rs749666237 0.00001
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr) rs200748221 0.00001
NM_001384140.1(PCDH15):c.3501+7G>T rs756402556 0.00001
NM_001384140.1(PCDH15):c.3502-7C>T rs757876538 0.00001
NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=) rs753725514 0.00001
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg) rs763978654 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys) rs752031456 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg) rs376146659 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=) rs775658931 0.00001
NM_001384140.1(PCDH15):c.4265C>G (p.Ala1422Gly) rs772491935 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser) rs777886341 0.00001
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter) rs1198732380 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384140.1(PCDH15):c.526G>A (p.Ala176Thr) rs758750902 0.00001
NM_001384140.1(PCDH15):c.907C>T (p.Pro303Ser) rs1283485823 0.00001
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_001384140.1(PCDH15):c.925C>A (p.Gln309Lys) rs762029000 0.00001
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1135-13C>T rs1171811821 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1500T>C (p.Ser500=) rs886053838 0.00001
NM_001384474.1(LOXHD1):c.1832C>T (p.Ser611Phe) rs1149438 0.00001
NM_001384474.1(LOXHD1):c.1833T>C (p.Ser611=) rs918348196 0.00001
NM_001384474.1(LOXHD1):c.1872C>T (p.His624=) rs751871989 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2047+15T>A rs1048096626 0.00001
NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=) rs1017933129 0.00001
NM_001384474.1(LOXHD1):c.2311C>G (p.Gln771Glu) rs1008856721 0.00001
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860 0.00001
NM_001384474.1(LOXHD1):c.2438-9C>A rs886053834 0.00001
NM_001384474.1(LOXHD1):c.246-5T>C rs1453735142 0.00001
NM_001384474.1(LOXHD1):c.2516A>T (p.Tyr839Phe) rs752014328 0.00001
NM_001384474.1(LOXHD1):c.2648C>T (p.Thr883Met) rs186315227 0.00001
NM_001384474.1(LOXHD1):c.2676C>T (p.Phe892=) rs568152703 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2704G>C (p.Val902Leu) rs756960512 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.2770C>T (p.Arg924Trp) rs886053832 0.00001
NM_001384474.1(LOXHD1):c.2882A>G (p.Glu961Gly) rs1023902108 0.00001
NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile) rs1485784156 0.00001
NM_001384474.1(LOXHD1):c.3146A>G (p.Glu1049Gly) rs767265152 0.00001
NM_001384474.1(LOXHD1):c.3161C>T (p.Thr1054Met) rs555210209 0.00001
NM_001384474.1(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229 0.00001
NM_001384474.1(LOXHD1):c.3195C>T (p.Ser1065=) rs886053830 0.00001
NM_001384474.1(LOXHD1):c.3275G>A (p.Arg1092His) rs757280331 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3597C>G (p.Leu1199=) rs886053829 0.00001
NM_001384474.1(LOXHD1):c.3648A>G (p.Thr1216=) rs886053828 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.391A>G (p.Met131Val) rs769960235 0.00001
NM_001384474.1(LOXHD1):c.4239C>T (p.Cys1413=) rs886053827 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4476_4477insT (p.Glu1493Ter) rs763478051 0.00001
NM_001384474.1(LOXHD1):c.4531-9G>A rs1409319193 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His) rs1293854417 0.00001
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=) rs976758061 0.00001
NM_001384474.1(LOXHD1):c.5005G>C (p.Gly1669Arg) rs1169003694 0.00001
NM_001384474.1(LOXHD1):c.511+13G>C rs1265165427 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr) rs1433984656 0.00001
NM_001384474.1(LOXHD1):c.5722A>G (p.Ile1908Val) rs781097312 0.00001
NM_001384474.1(LOXHD1):c.572A>G (p.Asp191Gly) rs886053842 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.580A>T (p.Ile194Phe) rs886053841 0.00001
NM_001384474.1(LOXHD1):c.5979G>A (p.Glu1993=) rs1402378599 0.00001
NM_001384474.1(LOXHD1):c.5T>C (p.Met2Thr) rs761525328 0.00001
NM_001384474.1(LOXHD1):c.611-7C>T rs916137735 0.00001
NM_001384474.1(LOXHD1):c.613G>A (p.Glu205Lys) rs958186869 0.00001
NM_001384474.1(LOXHD1):c.6458C>T (p.Pro2153Leu) rs1568061614 0.00001
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg) rs200198786 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) rs745938801 0.00001
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_001384474.1(LOXHD1):c.6659G>A (p.Arg2220His) rs886053822 0.00001
NM_001384474.1(LOXHD1):c.821C>T (p.Ala274Val) rs886053840 0.00001
NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg) rs1279719056 0.00001
NM_001386140.1(MTTP):c.*1018G>A rs1036088923 0.00001
NM_001386140.1(MTTP):c.*184G>A rs146172944 0.00001
NM_001386140.1(MTTP):c.*490_*494del rs886058963 0.00001
NM_001386140.1(MTTP):c.*668A>G rs1021704277 0.00001
NM_001386140.1(MTTP):c.-20G>A rs752823787 0.00001
NM_001386140.1(MTTP):c.-28T>C rs886058956 0.00001
NM_001386140.1(MTTP):c.-54C>T rs181769817 0.00001
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) rs138544271 0.00001
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr) rs765712127 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) rs758939873 0.00001
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) rs780688378 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) rs1159084242 0.00001
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) rs1309109456 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) rs149228079 0.00001
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) rs752590883 0.00001
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) rs572336571 0.00001
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) rs1459889971 0.00001
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg) rs774949603 0.00001
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) rs1283368181 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) rs1252692732 0.00001
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) rs746001155 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) rs750749323 0.00001
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) rs1428463955 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_001393500.2(TOMT):c.*336C>T rs886048638 0.00001
NM_001393500.2(TOMT):c.274C>T (p.Arg92Trp) rs762128762 0.00001
NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys) rs1038978268 0.00001
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser) rs529549122 0.00001
NM_001393500.2(TOMT):c.55C>T (p.Arg19Trp) rs1372399805 0.00001
NM_001393500.2(TOMT):c.62G>A (p.Arg21Gln) rs764268350 0.00001
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter) rs1298804148 0.00001
NM_001393500.2(TOMT):c.97C>G (p.Leu33Val) rs876657864 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) rs746465319 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001614.5(ACTG1):c.124-3C>T rs143798951 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His) rs782166295 0.00001
NM_001692.4(ATP6V1B1):c.1143+10T>C rs782112331 0.00001
NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=) rs370694539 0.00001
NM_001692.4(ATP6V1B1):c.119-10C>T rs782666539 0.00001
NM_001692.4(ATP6V1B1):c.1325A>G (p.Asp442Gly) rs1558680976 0.00001
NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser) rs1434098166 0.00001
NM_001692.4(ATP6V1B1):c.1478T>C (p.Val493Ala) rs781842994 0.00001
NM_001692.4(ATP6V1B1):c.1503G>A (p.Glu501=) rs782581074 0.00001
NM_001692.4(ATP6V1B1):c.181C>T (p.Gln61Ter) rs373621560 0.00001
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys) rs202011016 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.512T>C (p.Ile171Thr) rs782807034 0.00001
NM_001692.4(ATP6V1B1):c.605G>A (p.Arg202His) rs782603735 0.00001
NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys) rs555708728 0.00001
NM_001813.3(CENPE):c.7187G>A (p.Ser2396Asn) rs369337735 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln) rs146571500 0.00001
NM_002109.6(HARS1):c.1069G>A (p.Val357Met) rs1210579780 0.00001
NM_002109.6(HARS1):c.1129G>T (p.Val377Leu) rs1236403537 0.00001
NM_002109.6(HARS1):c.1156G>A (p.Val386Met) rs766493535 0.00001
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp) rs761949872 0.00001
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161 0.00001
NM_002109.6(HARS1):c.1194+4G>A rs370189312 0.00001
NM_002109.6(HARS1):c.1195-1G>A rs1758289022 0.00001
NM_002109.6(HARS1):c.1311+4T>C rs958234389 0.00001
NM_002109.6(HARS1):c.1387G>A (p.Val463Met) rs139699964 0.00001
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val) rs754304255 0.00001
NM_002109.6(HARS1):c.1407G>C (p.Gln469His) rs1405966952 0.00001
NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala) rs1758219575 0.00001
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg) rs150090766 0.00001
NM_002109.6(HARS1):c.1519T>G (p.Cys507Gly) rs150090766 0.00001
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe) rs1255236125 0.00001
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly) rs1461976080 0.00001
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys) rs1758827286 0.00001
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp) rs757279674 0.00001
NM_002109.6(HARS1):c.205C>A (p.Gln69Lys) rs906500515 0.00001
NM_002109.6(HARS1):c.235G>A (p.Val79Ile) rs1247876038 0.00001
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873 0.00001
NM_002109.6(HARS1):c.245G>A (p.Arg82His) rs747494880 0.00001
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys) rs775758650 0.00001
NM_002109.6(HARS1):c.257G>A (p.Arg86His) rs555242163 0.00001
NM_002109.6(HARS1):c.262G>A (p.Gly88Ser) rs574448668 0.00001
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg) rs1758818266 0.00001
NM_002109.6(HARS1):c.307C>G (p.Leu103Val) rs556459899 0.00001
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg) rs746177150 0.00001
NM_002109.6(HARS1):c.363C>T (p.Gly121=) rs372293095 0.00001
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp) rs1408800953 0.00001
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln) rs1408195908 0.00001
NM_002109.6(HARS1):c.437A>G (p.Asn146Ser) rs781115846 0.00001
NM_002109.6(HARS1):c.493C>T (p.Arg165Cys) rs760132903 0.00001
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln) rs146922029 0.00001
NM_002109.6(HARS1):c.522+1G>A rs375271566 0.00001
NM_002109.6(HARS1):c.532A>G (p.Ile178Val) rs774329929 0.00001
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe) rs762976181 0.00001
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro) rs762921085 0.00001
NM_002109.6(HARS1):c.713T>C (p.Val238Ala) rs536175170 0.00001
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg) rs1053173778 0.00001
NM_002109.6(HARS1):c.729+12A>G rs756500012 0.00001
NM_002109.6(HARS1):c.729+3A>G rs938453967 0.00001
NM_002109.6(HARS1):c.749A>G (p.Lys250Arg) rs1758445064 0.00001
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620 0.00001
NM_002109.6(HARS1):c.796C>T (p.Arg266Cys) rs575673293 0.00001
NM_002109.6(HARS1):c.811G>A (p.Val271Ile) rs149018062 0.00001
NM_002109.6(HARS1):c.829G>A (p.Val277Ile) rs763899763 0.00001
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu) rs1379178692 0.00001
NM_002109.6(HARS1):c.881A>C (p.Gln294Pro) rs1758417980 0.00001
NM_002109.6(HARS1):c.90+4A>C rs776405841 0.00001
NM_002109.6(HARS1):c.93C>G (p.Ile31Met) rs768408406 0.00001
NM_002109.6(HARS1):c.965del (p.Leu322fs) rs774824253 0.00001
NM_002160.4(TNC):c.1580G>C (p.Cys527Ser) rs746843738 0.00001
NM_002161.6(IARS1):c.1358G>A (p.Arg453His) rs570962385 0.00001
NM_002161.6(IARS1):c.1622C>T (p.Pro541Leu) rs1286974333 0.00001
NM_002161.6(IARS1):c.2035C>A (p.Leu679Ile) rs569119560 0.00001
NM_002180.3(IGHMBP2):c.*23C>T rs931118021 0.00001
NM_002180.3(IGHMBP2):c.*862T>C rs182410950 0.00001
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) rs145076368 0.00001
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn) rs1022216138 0.00001
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala) rs1033402228 0.00001
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser) rs1398038802 0.00001
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) rs372477029 0.00001
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295 0.00001
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954 0.00001
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) rs757304363 0.00001
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg) rs571142182 0.00001
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His) rs149628807 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg) rs751446350 0.00001
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725 0.00001
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334 0.00001
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405 0.00001
NM_002180.3(IGHMBP2):c.1537+88G>A rs1555247438 0.00001
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) rs373017768 0.00001
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718 0.00001
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile) rs768685672 0.00001
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1756+5G>A rs1352994155 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr) rs1240484547 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995 0.00001
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359 0.00001
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser) rs943195178 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893 0.00001
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) rs375023053 0.00001
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr) rs370166700 0.00001
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610 0.00001
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) rs1317117261 0.00001
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg) rs1566446312 0.00001
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886 0.00001
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln) rs767422655 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) rs943141487 0.00001
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180 0.00001
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys) rs1042372226 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842 0.00001
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met) rs1462234845 0.00001
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser) rs771844457 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val) rs1444267409 0.00001
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) rs760946663 0.00001
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile) rs1317637789 0.00001
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser) rs543060051 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro) rs769685389 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup) rs1267983821 0.00001
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser) rs1131691275 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr) rs149294713 0.00001
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala) rs766526224 0.00001
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile) rs748491290 0.00001
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr) rs763336691 0.00001
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp) rs557641477 0.00001
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947 0.00001
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229 0.00001
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747 0.00001
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys) rs1361120114 0.00001
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706 0.00001
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006 0.00001
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880 0.00001
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr) rs767665196 0.00001
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val) rs750539690 0.00001
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr) rs754051200 0.00001
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg) rs779086573 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr) rs768493454 0.00001
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr) rs774700020 0.00001
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn) rs899517052 0.00001
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His) rs758520241 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser) rs555235493 0.00001
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg) rs1323805346 0.00001
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) rs201726883 0.00001
NM_002226.5(JAG2):c.2473C>T (p.Arg825Cys) rs1459726266 0.00001
NM_002230.4(JUP):c.*436G>A rs886052915 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1069C>G (p.Leu357Val) rs1455055075 0.00001
NM_002230.4(JUP):c.107C>T (p.Ser36Phe) rs1555607036 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala) rs782690097 0.00001
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu) rs782067441 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1158+2_1158+4dup rs782280458 0.00001
NM_002230.4(JUP):c.1204G>A (p.Val402Met) rs782241125 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1236G>A (p.Thr412=) rs376391674 0.00001
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser) rs782135453 0.00001
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser) rs1555602250 0.00001
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp) rs782594495 0.00001
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys) rs781793865 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.136G>A (p.Asp46Asn) rs782308879 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu) rs782667501 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.152G>A (p.Arg51His) rs571707598 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu) rs1914310860 0.00001
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108 0.00001
NM_002230.4(JUP):c.160A>G (p.Thr54Ala) rs781784933 0.00001
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu) rs376881608 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 0.00001
NM_002230.4(JUP):c.1631C>T (p.Ala544Val) rs782762751 0.00001
NM_002230.4(JUP):c.1652C>T (p.Thr551Met) rs1038719021 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu) rs782490959 0.00001
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn) rs1555599033 0.00001
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) rs940226194 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly) rs782760341 0.00001
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg) rs1060502678 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1883C>T (p.Ala628Val) rs1475273502 0.00001
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser) rs1188860546 0.00001
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly) rs1914057795 0.00001
NM_002230.4(JUP):c.1920C>T (p.Gly640=) rs376699725 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.200C>T (p.Pro67Leu) rs1427489722 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) rs782475413 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2087-5C>T rs886052917 0.00001
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile) rs1913627808 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro) rs782096012 0.00001
NM_002230.4(JUP):c.2149C>G (p.His717Asp) rs1347008405 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.21G>C (p.Met7Ile) rs782076076 0.00001
NM_002230.4(JUP):c.250C>T (p.Arg84Trp) rs782306414 0.00001
NM_002230.4(JUP):c.251G>A (p.Arg84Gln) rs782061304 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.285C>T (p.Gly95=) rs1555605900 0.00001
NM_002230.4(JUP):c.296C>T (p.Ser99Leu) rs554046226 0.00001
NM_002230.4(JUP):c.311C>A (p.Thr104Asn) rs1185864978 0.00001
NM_002230.4(JUP):c.315G>C (p.Gln105His) rs375489362 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.344G>A (p.Arg115Gln) rs369722007 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.485C>T (p.Ala162Val) rs369121094 0.00001
NM_002230.4(JUP):c.494T>C (p.Ile165Thr) rs1254146503 0.00001
NM_002230.4(JUP):c.534C>T (p.Ala178=) rs1916171269 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.571C>T (p.Arg191Cys) rs781905238 0.00001
NM_002230.4(JUP):c.592G>A (p.Asp198Asn) rs782799529 0.00001
NM_002230.4(JUP):c.601A>G (p.Thr201Ala) rs781999758 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.674C>T (p.Ser225Leu) rs782685734 0.00001
NM_002230.4(JUP):c.680G>A (p.Gly227Asp) rs782010606 0.00001
NM_002230.4(JUP):c.697C>T (p.Arg233Cys) rs529126058 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.708-12C>G rs781970079 0.00001
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.782A>G (p.Lys261Arg) rs782527507 0.00001
NM_002230.4(JUP):c.788C>T (p.Ala263Val) rs1287470595 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.868G>A (p.Asp290Asn) rs982161216 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.88G>A (p.Ala30Thr) rs782733459 0.00001
NM_002230.4(JUP):c.928G>A (p.Gly310Ser) rs1597808505 0.00001
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_002230.4(JUP):c.997C>T (p.Arg333Cys) rs782031185 0.00001
NM_002241.5(KCNJ10):c.*237A>G rs886045412 0.00001
NM_002241.5(KCNJ10):c.*2530G>C rs886045400 0.00001
NM_002241.5(KCNJ10):c.*3104T>A rs376496371 0.00001
NM_002241.5(KCNJ10):c.*3458G>A rs543628318 0.00001
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys) rs1648596230 0.00001
NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr) rs750246232 0.00001
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861 0.00001
NM_002241.5(KCNJ10):c.250G>A (p.Val84Met) rs140646329 0.00001
NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val) rs751625111 0.00001
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr) rs796052607 0.00001
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695 0.00001
NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg) rs36040296 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp) rs769464065 0.00001
NM_002292.4(LAMB2):c.1211C>T (p.Pro404Leu) rs760505149 0.00001
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser) rs762273762 0.00001
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) rs765252703 0.00001
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His) rs1428596182 0.00001
NM_002292.4(LAMB2):c.1394_1396del (p.Leu465_Gly466delinsArg) rs1277599013 0.00001
NM_002292.4(LAMB2):c.1498C>T (p.Arg500Cys) rs199518288 0.00001
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val) rs758825199 0.00001
NM_002292.4(LAMB2):c.1518+4C>T rs902115828 0.00001
NM_002292.4(LAMB2):c.1543G>A (p.Asp515Asn) rs1255092475 0.00001
NM_002292.4(LAMB2):c.1651C>T (p.Arg551Cys) rs766282298 0.00001
NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln) rs760060166 0.00001
NM_002292.4(LAMB2):c.1862A>G (p.Tyr621Cys) rs373861923 0.00001
NM_002292.4(LAMB2):c.1877G>A (p.Arg626His) rs747329371 0.00001
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln) rs763825655 0.00001
NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp) rs777022967 0.00001
NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln) rs764642268 0.00001
NM_002292.4(LAMB2):c.2168G>A (p.Arg723His) rs542505535 0.00001
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His) rs141407145 0.00001
NM_002292.4(LAMB2):c.2258G>T (p.Gly753Val) rs780591744 0.00001
NM_002292.4(LAMB2):c.2297C>T (p.Ala766Val) rs773407518 0.00001
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys) rs772581224 0.00001
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His) rs886058674 0.00001
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser) rs775759513 0.00001
NM_002292.4(LAMB2):c.2506G>A (p.Glu836Lys) rs547498421 0.00001
NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val) rs1347865651 0.00001
NM_002292.4(LAMB2):c.2579G>A (p.Arg860His) rs768251178 0.00001
NM_002292.4(LAMB2):c.2611T>C (p.Phe871Leu) rs770943083 0.00001
NM_002292.4(LAMB2):c.2661C>A (p.Asn887Lys) rs1461585400 0.00001
NM_002292.4(LAMB2):c.2690G>A (p.Arg897His) rs375392013 0.00001
NM_002292.4(LAMB2):c.2720+13C>A rs369359244 0.00001
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr) rs201756319 0.00001
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp) rs754155232 0.00001
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp) rs190191113 0.00001
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr) rs771183113 0.00001
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser) rs1271329821 0.00001
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp) rs146232955 0.00001
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr) rs769328932 0.00001
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln) rs777538430 0.00001
NM_002292.4(LAMB2):c.3088G>A (p.Ala1030Thr) rs879255374 0.00001
NM_002292.4(LAMB2):c.3109+13G>C rs750600086 0.00001
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys) rs201159870 0.00001
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser) rs149560677 0.00001
NM_002292.4(LAMB2):c.3123C>A (p.Asn1041Lys) rs754842572 0.00001
NM_002292.4(LAMB2):c.3287C>A (p.Ala1096Asp) rs746590503 0.00001
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) rs370877359 0.00001
NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp) rs1271143265 0.00001
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp) rs760524944 0.00001
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg) rs748563846 0.00001
NM_002292.4(LAMB2):c.3708G>T (p.Glu1236Asp) rs753707094 0.00001
NM_002292.4(LAMB2):c.3727G>C (p.Gly1243Arg) rs755874006 0.00001
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala) rs1180166011 0.00001
NM_002292.4(LAMB2):c.3806T>C (p.Ile1269Thr) rs750462831 0.00001
NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys) rs532092193 0.00001
NM_002292.4(LAMB2):c.3973A>G (p.Asn1325Asp) rs776150106 0.00001
NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His) rs149144377 0.00001
NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile) rs1013824488 0.00001
NM_002292.4(LAMB2):c.4139A>G (p.Asn1380Ser) rs372463037 0.00001
NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser) rs769093652 0.00001
NM_002292.4(LAMB2):c.431A>G (p.His144Arg) rs765594517 0.00001
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp) rs901971113 0.00001
NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val) rs1040319445 0.00001
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp) rs771487133 0.00001
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser) rs917006966 0.00001
NM_002292.4(LAMB2):c.4482C>T (p.Ala1494=) rs199894011 0.00001
NM_002292.4(LAMB2):c.4489A>G (p.Lys1497Glu) rs771769006 0.00001
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile) rs781065313 0.00001
NM_002292.4(LAMB2):c.4645G>T (p.Ala1549Ser) rs764494090 0.00001
NM_002292.4(LAMB2):c.4676T>C (p.Ile1559Thr) rs748097623 0.00001
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559 0.00001
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val) rs371490301 0.00001
NM_002292.4(LAMB2):c.4723C>T (p.Arg1575Cys) rs754337557 0.00001
NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys) rs374187759 0.00001
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser) rs1051360734 0.00001
NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn) rs763488594 0.00001
NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr) rs774017887 0.00001
NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr) rs144938183 0.00001
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr) rs1294654447 0.00001
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys) rs201458234 0.00001
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln) rs924410863 0.00001
NM_002292.4(LAMB2):c.713-3C>T rs775876911 0.00001
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly) rs757452525 0.00001
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg) rs774169261 0.00001
NM_002292.4(LAMB2):c.938A>G (p.Lys313Arg) rs770959758 0.00001
NM_002292.4(LAMB2):c.950G>A (p.Arg317His) rs144771072 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) rs777314081 0.00001
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp) rs371690402 0.00001
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) rs370901051 0.00001
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser) rs771268909 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) rs200409162 0.00001
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) rs745350421 0.00001
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) rs587783024 0.00001
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr) rs1045994595 0.00001
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) rs747131775 0.00001
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile) rs543279405 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) rs751720886 0.00001
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu) rs765603774 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser) rs776947784 0.00001
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) rs774814837 0.00001
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn) rs768364811 0.00001
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser) rs773895575 0.00001
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser) rs771724060 0.00001
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) rs577519439 0.00001
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val) rs761682970 0.00001
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln) rs371323193 0.00001
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys) rs1433868957 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr) rs776839535 0.00001
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) rs752483392 0.00001
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) rs1260043027 0.00001
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met) rs1215728276 0.00001
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) rs145293239 0.00001
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) rs370347973 0.00001
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) rs760090713 0.00001
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) rs780957124 0.00001
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) rs747638441 0.00001
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn) rs1257556169 0.00001
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) rs745582449 0.00001
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg) rs778832210 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser) rs778882996 0.00001
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn) rs959633003 0.00001
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=) rs764288902 0.00001
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val) rs1371991892 0.00001
NM_002335.4(LRP5):c.4586+3A>G rs374747007 0.00001
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr) rs144376510 0.00001
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala) rs748088266 0.00001
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val) rs767157733 0.00001
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg) rs773226526 0.00001
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) rs1243456483 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) rs937595017 0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) rs1343250131 0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) rs771421325 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) rs144020429 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) rs1484416611 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val) rs886060804 0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) rs1182297284 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) rs1238722351 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) rs766083570 0.00001
NM_002473.6(MYH9):c.*1330A>G rs1374073858 0.00001
NM_002473.6(MYH9):c.*13G>A rs750071451 0.00001
NM_002473.6(MYH9):c.*656T>C rs886057474 0.00001
NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn) rs767088377 0.00001
NM_002473.6(MYH9):c.1188G>A (p.Val396=) rs147972823 0.00001
NM_002473.6(MYH9):c.1344C>T (p.Ile448=) rs150125254 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.1590G>A (p.Glu530=) rs533935135 0.00001
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) rs762239398 0.00001
NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys) rs768721880 0.00001
NM_002473.6(MYH9):c.2500-9C>T rs1364784964 0.00001
NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys) rs750718366 0.00001
NM_002473.6(MYH9):c.2607G>A (p.Thr869=) rs751880371 0.00001
NM_002473.6(MYH9):c.278A>G (p.Asn93Ser) rs1359996610 0.00001
NM_002473.6(MYH9):c.2977-10C>T rs188843586 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002473.6(MYH9):c.3371G>A (p.Arg1124His) rs765237081 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met) rs375081687 0.00001
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) rs876657520 0.00001
NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val) rs772915368 0.00001
NM_002473.6(MYH9):c.3838-11G>A rs754547754 0.00001
NM_002473.6(MYH9):c.420C>T (p.Gly140=) rs372621048 0.00001
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) rs530533580 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu) rs750410479 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.4955G>A (p.Arg1652His) rs779135945 0.00001
NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) rs754714910 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.519-6T>G rs867195616 0.00001
NM_002473.6(MYH9):c.5489G>A (p.Arg1830His) rs966415372 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_002473.6(MYH9):c.5766-5C>T rs746967490 0.00001
NM_002473.6(MYH9):c.5769C>T (p.Arg1923=) rs370834297 0.00001
NM_002485.5(NBN):c.*352C>G rs13312978 0.00001
NM_002485.5(NBN):c.-7C>A rs1210776869 0.00001
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala) rs1554560492 0.00001
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile) rs1335655343 0.00001
NM_002485.5(NBN):c.1012C>A (p.Pro338Thr) rs1554560467 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly) rs762376159 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser) rs768886664 0.00001
NM_002485.5(NBN):c.1078A>G (p.Thr360Ala) rs1307700838 0.00001
NM_002485.5(NBN):c.1090G>A (p.Val364Ile) rs765403660 0.00001
NM_002485.5(NBN):c.1091T>C (p.Val364Ala) rs370229163 0.00001
NM_002485.5(NBN):c.112G>C (p.Asp38His) rs876659565 0.00001
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys) rs772909239 0.00001
NM_002485.5(NBN):c.1152C>G (p.Ile384Met) rs551802153 0.00001
NM_002485.5(NBN):c.1154A>G (p.Lys385Arg) rs769453547 0.00001
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg) rs947104724 0.00001
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu) rs941732827 0.00001
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg) rs746965070 0.00001
NM_002485.5(NBN):c.1195G>A (p.Asp399Asn) rs1430248021 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp) rs587782409 0.00001
NM_002485.5(NBN):c.128G>A (p.Arg43Gln) rs759146120 0.00001
NM_002485.5(NBN):c.1315A>G (p.Ile439Val) rs752837508 0.00001
NM_002485.5(NBN):c.1321A>G (p.Lys441Glu) rs751876787 0.00001
NM_002485.5(NBN):c.1322A>G (p.Lys441Arg) rs1329281031 0.00001
NM_002485.5(NBN):c.1334G>C (p.Arg445Thr) rs1448696637 0.00001
NM_002485.5(NBN):c.134A>G (p.His45Arg) rs1554569059 0.00001
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu) rs1011573169 0.00001
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys) rs1412358437 0.00001
NM_002485.5(NBN):c.135T>A (p.His45Gln) rs770618624 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.136G>C (p.Ala46Pro) rs1812129847 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.1402A>G (p.Arg468Gly) rs769862680 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) rs878854505 0.00001
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser) rs750711786 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.146C>T (p.Thr49Ile) rs1450189149 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys) rs587781557 0.00001
NM_002485.5(NBN):c.1481A>C (p.Gln494Pro) rs1381248118 0.00001
NM_002485.5(NBN):c.153C>A (p.Asn51Lys) rs876661214 0.00001
NM_002485.5(NBN):c.1547C>T (p.Thr516Ile) rs754706758 0.00001
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp) rs1040315184 0.00001
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser) rs750981708 0.00001
NM_002485.5(NBN):c.1567T>C (p.Phe523Leu) rs1554558419 0.00001
NM_002485.5(NBN):c.1570A>G (p.Thr524Ala) rs1292640945 0.00001
NM_002485.5(NBN):c.1580A>T (p.Asp527Val) rs1554558407 0.00001
NM_002485.5(NBN):c.1618C>T (p.His540Tyr) rs1554558393 0.00001
NM_002485.5(NBN):c.1619A>G (p.His540Arg) rs730881852 0.00001
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly) rs587781624 0.00001
NM_002485.5(NBN):c.1642A>C (p.Asn548His) rs772234785 0.00001
NM_002485.5(NBN):c.1648A>G (p.Lys550Glu) rs1468125809 0.00001
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) rs1586053587 0.00001
NM_002485.5(NBN):c.1657A>G (p.Met553Val) rs746347634 0.00001
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) rs876659960 0.00001
NM_002485.5(NBN):c.1684G>A (p.Val562Ile) rs754651655 0.00001
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg) rs1488036998 0.00001
NM_002485.5(NBN):c.170T>C (p.Leu57Pro) rs747920256 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.172-3C>T rs587781620 0.00001
NM_002485.5(NBN):c.1730A>T (p.Asp577Val) rs1341969209 0.00001
NM_002485.5(NBN):c.1735A>G (p.Lys579Glu) rs993110145 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser) rs1586053003 0.00001
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys) rs774324419 0.00001
NM_002485.5(NBN):c.1841T>C (p.Ile614Thr) rs1586052647 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1845+6T>C rs1033050295 0.00001
NM_002485.5(NBN):c.1848A>G (p.Gln616=) rs587782269 0.00001
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala) rs763546746 0.00001
NM_002485.5(NBN):c.1858A>G (p.Ile620Val) rs1810270999 0.00001
NM_002485.5(NBN):c.1865A>G (p.Lys622Arg) rs1381148233 0.00001
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn) rs587782221 0.00001
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys) rs369049359 0.00001
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg) rs1237629649 0.00001
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro) rs377132067 0.00001
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys) rs876658613 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.1915-8C>T rs368132097 0.00001
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser) rs748073091 0.00001
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly) rs587782155 0.00001
NM_002485.5(NBN):c.19G>A (p.Ala7Thr) rs587780779 0.00001
NM_002485.5(NBN):c.2000C>T (p.Ser667Phe) rs374638426 0.00001
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser) rs1563513183 0.00001
NM_002485.5(NBN):c.2023A>G (p.Ile675Val) rs1586040318 0.00001
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) rs200564603 0.00001
NM_002485.5(NBN):c.2071-4A>G rs746994234 0.00001
NM_002485.5(NBN):c.2071G>A (p.Val691Ile) rs772059959 0.00001
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg) rs1367898317 0.00001
NM_002485.5(NBN):c.2122C>G (p.Leu708Val) rs756580887 0.00001
NM_002485.5(NBN):c.2129C>T (p.Ala710Val) rs1060503454 0.00001
NM_002485.5(NBN):c.2132A>T (p.His711Leu) rs1810035825 0.00001
NM_002485.5(NBN):c.2134C>A (p.His712Asn) rs781520763 0.00001
NM_002485.5(NBN):c.2134C>T (p.His712Tyr) rs781520763 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser) rs786204181 0.00001
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg) rs878854510 0.00001
NM_002485.5(NBN):c.2176G>A (p.Glu726Lys) rs1421870412 0.00001
NM_002485.5(NBN):c.2197C>G (p.His733Asp) rs1311278427 0.00001
NM_002485.5(NBN):c.2201C>T (p.Ala734Val) rs751824753 0.00001
NM_002485.5(NBN):c.2235A>G (p.Arg745=) rs754865465 0.00001
NM_002485.5(NBN):c.286G>A (p.Gly96Ser) rs730882133 0.00001
NM_002485.5(NBN):c.296T>A (p.Phe99Tyr) rs1187898389 0.00001
NM_002485.5(NBN):c.320+6A>G rs757321173 0.00001
NM_002485.5(NBN):c.321-17C>G rs763878712 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.322A>G (p.Ile108Val) rs1286492027 0.00001
NM_002485.5(NBN):c.323T>C (p.Ile108Thr) rs775217949 0.00001
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys) rs1355269482 0.00001
NM_002485.5(NBN):c.332A>G (p.Glu111Gly) rs876659320 0.00001
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) rs1060503468 0.00001
NM_002485.5(NBN):c.361G>C (p.Asp121His) rs777916019 0.00001
NM_002485.5(NBN):c.362A>G (p.Asp121Gly) rs770163751 0.00001
NM_002485.5(NBN):c.37+3A>G rs764356392 0.00001
NM_002485.5(NBN):c.370G>A (p.Gly124Arg) rs1064794806 0.00001
NM_002485.5(NBN):c.38-11A>G rs770165601 0.00001
NM_002485.5(NBN):c.38-7A>G rs863224392 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.394A>G (p.Ile132Val) rs756946899 0.00001
NM_002485.5(NBN):c.427T>C (p.Trp143Arg) rs770995856 0.00001
NM_002485.5(NBN):c.42A>C (p.Glu14Asp) rs957561936 0.00001
NM_002485.5(NBN):c.445C>T (p.His149Tyr) rs1161054161 0.00001
NM_002485.5(NBN):c.448C>T (p.Leu150Phe) rs773119929 0.00001
NM_002485.5(NBN):c.468A>C (p.Lys156Asn) rs730881858 0.00001
NM_002485.5(NBN):c.484A>G (p.Ile162Val) rs750594114 0.00001
NM_002485.5(NBN):c.490G>T (p.Ala164Ser) rs786201252 0.00001
NM_002485.5(NBN):c.493C>A (p.Leu165Ile) rs776810966 0.00001
NM_002485.5(NBN):c.500G>A (p.Cys167Tyr) rs1060503464 0.00001
NM_002485.5(NBN):c.514G>A (p.Val172Ile) rs1586101456 0.00001
NM_002485.5(NBN):c.520C>A (p.Pro174Thr) rs587778546 0.00001
NM_002485.5(NBN):c.567G>A (p.Gln189=) rs1203807404 0.00001
NM_002485.5(NBN):c.56T>G (p.Leu19Trp) rs749263651 0.00001
NM_002485.5(NBN):c.584+3A>G rs587782407 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.601G>A (p.Asp201Asn) rs757186245 0.00001
NM_002485.5(NBN):c.620G>T (p.Ser207Ile) rs587780099 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.646C>A (p.Gln216Lys) rs769416 0.00001
NM_002485.5(NBN):c.649G>C (p.Glu217Gln) rs760275251 0.00001
NM_002485.5(NBN):c.64G>A (p.Val22Ile) rs369910645 0.00001
NM_002485.5(NBN):c.656A>G (p.Lys219Arg) rs376951288 0.00001
NM_002485.5(NBN):c.658C>G (p.Gln220Glu) rs876659811 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.692A>G (p.Asn231Ser) rs1309274168 0.00001
NM_002485.5(NBN):c.703C>T (p.His235Tyr) rs1554564044 0.00001
NM_002485.5(NBN):c.719C>T (p.Ser240Phe) rs1554564033 0.00001
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.773A>G (p.Glu258Gly) rs786203380 0.00001
NM_002485.5(NBN):c.778C>A (p.His260Asn) rs767013459 0.00001
NM_002485.5(NBN):c.783T>G (p.Asn261Lys) rs375336614 0.00001
NM_002485.5(NBN):c.793G>A (p.Ala265Thr) rs876658382 0.00001
NM_002485.5(NBN):c.796C>T (p.Pro266Ser) rs762956906 0.00001
NM_002485.5(NBN):c.798G>A (p.Pro266=) rs368786672 0.00001
NM_002485.5(NBN):c.800G>A (p.Gly267Glu) rs747837246 0.00001
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr) rs768822147 0.00001
NM_002485.5(NBN):c.815A>G (p.Asp272Gly) rs730881847 0.00001
NM_002485.5(NBN):c.820G>A (p.Gly274Arg) rs540837864 0.00001
NM_002485.5(NBN):c.826A>T (p.Thr276Ser) rs1554563895 0.00001
NM_002485.5(NBN):c.827C>G (p.Thr276Arg) rs864622304 0.00001
NM_002485.5(NBN):c.83G>A (p.Arg28Lys) rs876658581 0.00001
NM_002485.5(NBN):c.865T>G (p.Trp289Gly) rs1563559145 0.00001
NM_002485.5(NBN):c.877A>G (p.Ile293Val) rs1283506577 0.00001
NM_002485.5(NBN):c.881T>C (p.Met294Thr) rs779346343 0.00001
NM_002485.5(NBN):c.886A>G (p.Met296Val) rs1241439290 0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=) rs779798363 0.00001
NM_002485.5(NBN):c.92G>C (p.Cys31Ser) rs1377520302 0.00001
NM_002485.5(NBN):c.937G>T (p.Ala313Ser) rs876660584 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002485.5(NBN):c.986C>T (p.Pro329Leu) rs1386471248 0.00001
NM_002485.5(NBN):c.994+5T>C rs778254433 0.00001
NM_002617.4(PEX10):c.*175T>C rs1389854882 0.00001
NM_002617.4(PEX10):c.*445G>A rs557941413 0.00001
NM_002617.4(PEX10):c.*824G>A rs1288938989 0.00001
NM_002617.4(PEX10):c.*838C>T rs886046135 0.00001
NM_002617.4(PEX10):c.112+11G>T rs1322541651 0.00001
NM_002617.4(PEX10):c.120G>T (p.Arg40Ser) rs1363831554 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 0.00001
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln) rs372894429 0.00001
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu) rs769847524 0.00001
NM_002617.4(PEX10):c.272G>A (p.Arg91His) rs778774616 0.00001
NM_002617.4(PEX10):c.290C>T (p.Thr97Ile) rs750947589 0.00001
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala) rs1367685379 0.00001
NM_002617.4(PEX10):c.307C>G (p.Pro103Ala) rs1299562078 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.344A>G (p.Gln115Arg) rs778031802 0.00001
NM_002617.4(PEX10):c.371G>A (p.Gly124Glu) rs1169193497 0.00001
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg) rs1425257705 0.00001
NM_002617.4(PEX10):c.421G>A (p.Ala141Thr) rs747538698 0.00001
NM_002617.4(PEX10):c.422C>T (p.Ala141Val) rs778322648 0.00001
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys) rs1184194956 0.00001
NM_002617.4(PEX10):c.437G>A (p.Arg146His) rs1471507257 0.00001
NM_002617.4(PEX10):c.43G>A (p.Ala15Thr) rs1438725093 0.00001
NM_002617.4(PEX10):c.449C>T (p.Ala150Val) rs776218721 0.00001
NM_002617.4(PEX10):c.488C>T (p.Ala163Val) rs750507518 0.00001
NM_002617.4(PEX10):c.496G>A (p.Val166Ile) rs368864383 0.00001
NM_002617.4(PEX10):c.538G>T (p.Ala180Ser) rs769189410 0.00001
NM_002617.4(PEX10):c.601-18G>C rs149822209 0.00001
NM_002617.4(PEX10):c.601-33G>A rs1187656235 0.00001
NM_002617.4(PEX10):c.601-39C>T rs1469160710 0.00001
NM_002617.4(PEX10):c.601-3C>G rs369643163 0.00001
NM_002617.4(PEX10):c.601-56C>T rs761449217 0.00001
NM_002617.4(PEX10):c.601-63C>T rs1172587431 0.00001
NM_002617.4(PEX10):c.623G>A (p.Gly208Glu) rs753300436 0.00001
NM_002617.4(PEX10):c.668T>C (p.Ile223Thr) rs780850148 0.00001
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro) rs746710198 0.00001
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu) rs372574195 0.00001
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly) rs1424367364 0.00001
NM_002617.4(PEX10):c.719G>A (p.Arg240Lys) rs1419912761 0.00001
NM_002617.4(PEX10):c.751C>A (p.Leu251Met) rs1355235678 0.00001
NM_002617.4(PEX10):c.776+9G>A rs528387404 0.00001
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.835G>A (p.Glu279Lys) rs62641225 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00001
NM_002617.4(PEX10):c.8C>G (p.Pro3Arg) rs528381804 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002617.4(PEX10):c.913-3C>T rs777570617 0.00001
NM_002617.4(PEX10):c.919T>C (p.Cys307Arg) rs1418762869 0.00001
NM_002617.4(PEX10):c.922C>T (p.Pro308Ser) rs1402121158 0.00001
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp) rs765965290 0.00001
NM_002617.4(PEX10):c.940T>C (p.Phe314Leu) rs148057567 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_002617.4(PEX10):c.98T>G (p.Leu33Arg) rs1643271090 0.00001
NM_002618.4(PEX13):c.*2168A>T rs886056207 0.00001
NM_002618.4(PEX13):c.*2234A>G rs1358607905 0.00001
NM_002618.4(PEX13):c.*2581A>T rs895620341 0.00001
NM_002618.4(PEX13):c.*2749C>G rs888853893 0.00001
NM_002618.4(PEX13):c.*298G>C rs886056199 0.00001
NM_002618.4(PEX13):c.*3216C>G rs780132052 0.00001
NM_002618.4(PEX13):c.*895C>T rs979509871 0.00001
NM_002618.4(PEX13):c.*953G>A rs1339051481 0.00001
NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile) rs149581494 0.00001
NM_002618.4(PEX13):c.1019G>C (p.Arg340Thr) rs755008779 0.00001
NM_002618.4(PEX13):c.103T>A (p.Leu35Met) rs752671523 0.00001
NM_002618.4(PEX13):c.1053G>C (p.Gln351His) rs759524829 0.00001
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg) rs755510406 0.00001
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met) rs769398640 0.00001
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys) rs1167111884 0.00001
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu) rs886044219 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser) rs1351769986 0.00001
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg) rs1337201612 0.00001
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile) rs1282669816 0.00001
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg) rs1281056404 0.00001
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr) rs1292631867 0.00001
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu) rs898062680 0.00001
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr) rs1210739309 0.00001
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe) rs1292485549 0.00001
NM_002618.4(PEX13):c.1A>G (p.Met1Val) rs1201215154 0.00001
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala) rs767895802 0.00001
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg) rs892846278 0.00001
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu) rs752312334 0.00001
NM_002618.4(PEX13):c.311G>A (p.Gly104Asp) rs773664586 0.00001
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys) rs776824458 0.00001
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe) rs138030119 0.00001
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn) rs748193136 0.00001
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys) rs1357787046 0.00001
NM_002618.4(PEX13):c.409G>A (p.Val137Met) rs768438349 0.00001
NM_002618.4(PEX13):c.433A>G (p.Met145Val) rs1345860074 0.00001
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys) rs1311634962 0.00001
NM_002618.4(PEX13):c.44G>A (p.Arg15His) rs576438646 0.00001
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041 0.00001
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr) rs1481858907 0.00001
NM_002618.4(PEX13):c.500A>G (p.His167Arg) rs1336772620 0.00001
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln) rs779100414 0.00001
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp) rs771451906 0.00001
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys) rs763396088 0.00001
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) rs761487103 0.00001
NM_002618.4(PEX13):c.592A>T (p.Met198Leu) rs760577554 0.00001
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp) rs752948360 0.00001
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr) rs1316575619 0.00001
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser) rs1466677796 0.00001
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr) rs988856957 0.00001
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr) rs1471254251 0.00001
NM_002618.4(PEX13):c.8C>G (p.Ser3Cys) rs950397917 0.00001
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly) rs770549469 0.00001
NM_002618.4(PEX13):c.913+5T>G rs1380556679 0.00001
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro) rs759610758 0.00001
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu) rs765658938 0.00001
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro) rs753122073 0.00001
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile) rs1559047077 0.00001
NM_002635.4(SLC25A3):c.*411T>C rs757599299 0.00001
NM_002635.4(SLC25A3):c.-4-7C>T rs766677386 0.00001
NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu) rs886049919 0.00001
NM_002635.4(SLC25A3):c.648C>T (p.Tyr216=) rs756464886 0.00001
NM_002635.4(SLC25A3):c.715C>T (p.Arg239Cys) rs772819565 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3273+17G>A rs368578878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp) rs762622438 0.00001
NM_002700.3(POU4F3):c.171C>G (p.Ala57=) rs781289197 0.00001
NM_002700.3(POU4F3):c.327C>A (p.His109Gln) rs1280898301 0.00001
NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser) rs1760423963 0.00001
NM_002700.3(POU4F3):c.442C>T (p.His148Tyr) rs761965263 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_002700.3(POU4F3):c.591G>A (p.Arg197=) rs886060064 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002855.5(NECTIN1):c.*1168C>T rs572202348 0.00001
NM_002855.5(NECTIN1):c.*1422G>A rs973497387 0.00001
NM_002855.5(NECTIN1):c.*3185C>T rs778138067 0.00001
NM_002855.5(NECTIN1):c.*3294G>T rs560856416 0.00001
NM_002855.5(NECTIN1):c.*3426C>T rs908923186 0.00001
NM_002855.5(NECTIN1):c.*3634T>C rs1460034515 0.00001
NM_002855.5(NECTIN1):c.*438C>T rs760416313 0.00001
NM_002855.5(NECTIN1):c.-50C>G rs1410948549 0.00001
NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser) rs147334676 0.00001
NM_002857.4(PEX19):c.*1330G>A rs886045442 0.00001
NM_002857.4(PEX19):c.*138C>T rs770138698 0.00001
NM_002857.4(PEX19):c.*1450T>A rs886045441 0.00001
NM_002857.4(PEX19):c.*2155C>T rs886045439 0.00001
NM_002857.4(PEX19):c.*469C>T rs886045446 0.00001
NM_002857.4(PEX19):c.*716C>A rs1201331563 0.00001
NM_002857.4(PEX19):c.*741C>T rs1288025465 0.00001
NM_002857.4(PEX19):c.*971G>A rs543861713 0.00001
NM_002857.4(PEX19):c.10G>T (p.Ala4Ser) rs1436027867 0.00001
NM_002857.4(PEX19):c.110C>T (p.Ala37Val) rs575112594 0.00001
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr) rs1280706455 0.00001
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn) rs1364910260 0.00001
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro) rs755726384 0.00001
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg) rs772905234 0.00001
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg) rs1405573106 0.00001
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu) rs1334997035 0.00001
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln) rs868021380 0.00001
NM_002857.4(PEX19):c.424G>C (p.Asp142His) rs778927500 0.00001
NM_002857.4(PEX19):c.432+2T>C rs757078881 0.00001
NM_002857.4(PEX19):c.442A>G (p.Met148Val) rs905834830 0.00001
NM_002857.4(PEX19):c.484A>C (p.Met162Leu) rs1205563557 0.00001
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser) rs1298851036 0.00001
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu) rs1480182464 0.00001
NM_002857.4(PEX19):c.536T>G (p.Met179Arg) rs1234326495 0.00001
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp) rs1170972153 0.00001
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn) rs773909342 0.00001
NM_002857.4(PEX19):c.61C>G (p.Leu21Val) rs374112351 0.00001
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro) rs775425209 0.00001
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly) rs778154365 0.00001
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile) rs146340199 0.00001
NM_002857.4(PEX19):c.772C>G (p.Leu258Val) rs752093054 0.00001
NM_002857.4(PEX19):c.858G>A (p.Ser286=) rs754510943 0.00001
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn) rs764990251 0.00001
NM_002857.4(PEX19):c.895_896del (p.Met299fs) rs1175608825 0.00001
NM_002860.4(ALDH18A1):c.-44G>A rs1443127759 0.00001
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=) rs886047512 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-13G>A rs756690468 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val) rs886047513 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_002906.4(RDX):c.*1058G>A rs886047643 0.00001
NM_002906.4(RDX):c.*1143G>A rs1285328999 0.00001
NM_002906.4(RDX):c.*1215G>A rs1342774754 0.00001
NM_002906.4(RDX):c.*1536T>C rs1864574922 0.00001
NM_002906.4(RDX):c.*2057T>C rs886047633 0.00001
NM_002906.4(RDX):c.*2070A>G rs1342838556 0.00001
NM_002906.4(RDX):c.*302C>T rs181457865 0.00001
NM_002906.4(RDX):c.*463A>G rs886047645 0.00001
NM_002906.4(RDX):c.-65+12C>T rs886047651 0.00001
NM_002906.4(RDX):c.507A>G (p.Glu169=) rs886047648 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_003193.5(TBCE):c.*208G>A rs1218893081 0.00001
NM_003193.5(TBCE):c.1125C>T (p.Pro375=) rs762683460 0.00001
NM_003193.5(TBCE):c.1270+4del rs774067348 0.00001
NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr) rs372421061 0.00001
NM_003319.4(TTN):c.16349dup (p.Phe5451fs) rs752856716 0.00001
NM_003332.4(TYROBP):c.112G>A (p.Val38Met) rs199970556 0.00001
NM_003332.4(TYROBP):c.180C>G (p.Ala60=) rs199583341 0.00001
NM_003332.4(TYROBP):c.230-3C>T rs779491857 0.00001
NM_003383.5(VLDLR):c.*267A>G rs1036108012 0.00001
NM_003383.5(VLDLR):c.*51C>T rs752035004 0.00001
NM_003383.5(VLDLR):c.-48G>C rs1054805961 0.00001
NM_003383.5(VLDLR):c.1066+14T>C rs762128149 0.00001
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00001
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr) rs369197633 0.00001
NM_003383.5(VLDLR):c.2104+6G>A rs773398189 0.00001
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys) rs1818277717 0.00001
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) rs753848585 0.00001
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn) rs144469558 0.00001
NM_003384.3(VRK1):c.*281G>A rs1889257279 0.00001
NM_003384.3(VRK1):c.*302T>C rs1294884447 0.00001
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg) rs1322207018 0.00001
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln) rs145241983 0.00001
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly) rs549505565 0.00001
NM_003384.3(VRK1):c.1159+5G>C rs372052354 0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys) rs149083861 0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys) rs766501031 0.00001
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg) rs759541730 0.00001
NM_003384.3(VRK1):c.127A>G (p.Ile43Val) rs777420974 0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425 0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val) rs1237038231 0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu) rs1474265077 0.00001
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr) rs768889718 0.00001
NM_003384.3(VRK1):c.302G>A (p.Arg101His) rs372646027 0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg) rs1064796973 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys) rs201936978 0.00001
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr) rs1888016669 0.00001
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe) rs1452833653 0.00001
NM_003384.3(VRK1):c.576+9A>G rs978347799 0.00001
NM_003384.3(VRK1):c.577-4A>G rs1194395636 0.00001
NM_003384.3(VRK1):c.583T>G (p.Leu195Val) rs779770049 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp) rs1311364931 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln) rs1200170208 0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr) rs761905254 0.00001
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys) rs747692654 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003384.3(VRK1):c.82A>G (p.Ile28Val) rs1210199221 0.00001
NM_003384.3(VRK1):c.830+10A>G rs544437757 0.00001
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly) rs1449338678 0.00001
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg) rs1310616396 0.00001
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg) rs1340163417 0.00001
NM_003384.3(VRK1):c.889+4G>C rs761286112 0.00001
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val) rs1057524492 0.00001
NM_003504.5(CDC45):c.1487C>T (p.Pro496Leu) rs1376596361 0.00001
NM_003619.4(PRSS12):c.*1435A>G rs1247361243 0.00001
NM_003619.4(PRSS12):c.*1499A>G rs748542086 0.00001
NM_003619.4(PRSS12):c.*658C>T rs549172615 0.00001
NM_003619.4(PRSS12):c.*904A>T rs1025703450 0.00001
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys) rs139059047 0.00001
NM_003619.4(PRSS12):c.1293-10A>G rs374374471 0.00001
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu) rs937952328 0.00001
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe) rs377739049 0.00001
NM_003619.4(PRSS12):c.315C>T (p.Phe105=) rs776809807 0.00001
NM_003619.4(PRSS12):c.518G>A (p.Arg173His) rs764862487 0.00001
NM_003619.4(PRSS12):c.821-12C>G rs373973695 0.00001
NM_003630.3(PEX3):c.*978C>T rs777447974 0.00001
NM_003630.3(PEX3):c.-175G>C rs545482337 0.00001
NM_003630.3(PEX3):c.-214G>C rs886061129 0.00001
NM_003630.3(PEX3):c.-231G>C rs1037688328 0.00001
NM_003630.3(PEX3):c.51C>T (p.Ile17=) rs367803197 0.00001
NM_003630.3(PEX3):c.810G>A (p.Met270Ile) rs747026967 0.00001
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu) rs2057250642 0.00001
NM_003673.4(TCAP):c.282C>T (p.Phe94=) rs749565002 0.00001
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys) rs1042724474 0.00001
NM_003673.4(TCAP):c.389G>A (p.Arg130His) rs147503632 0.00001
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) rs786205287 0.00001
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln) rs1085307822 0.00001
NM_003701.4(TNFSF11):c.*113G>A rs886050253 0.00001
NM_003701.4(TNFSF11):c.*152A>G rs886050254 0.00001
NM_003701.4(TNFSF11):c.-104C>T rs1873181204 0.00001
NM_003701.4(TNFSF11):c.-4C>T rs781185506 0.00001
NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) rs201389502 0.00001
NM_003701.4(TNFSF11):c.533-8C>T rs1869458758 0.00001
NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) rs61761332 0.00001
NM_003801.4(GPAA1):c.1723G>T (p.Ala575Ser) rs781814383 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_003805.5(CRADD):c.-2A>G rs1431834925 0.00001
NM_003805.5(CRADD):c.-6-7T>C rs756888040 0.00001
NM_003823.4(TNFRSF6B):c.*10C>T rs766685059 0.00001
NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr) rs750153793 0.00001
NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys) rs753653499 0.00001
NM_003839.4(TNFRSF11A):c.*420G>C rs1324561922 0.00001
NM_003839.4(TNFRSF11A):c.*501G>A rs886054091 0.00001
NM_003839.4(TNFRSF11A):c.*693T>G rs886054095 0.00001
NM_003839.4(TNFRSF11A):c.*93G>T rs965196006 0.00001
NM_003839.4(TNFRSF11A):c.-22G>T rs1273385769 0.00001
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) rs764498229 0.00001
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val) rs961173072 0.00001
NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=) rs369418441 0.00001
NM_003839.4(TNFRSF11A):c.730+6G>C rs554552883 0.00001
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile) rs749136654 0.00001
NM_003896.4(ST3GAL5):c.*607C>T rs535114385 0.00001
NM_003896.4(ST3GAL5):c.*944C>T rs761892496 0.00001
NM_003896.4(ST3GAL5):c.1001G>A (p.Arg334Gln) rs757193745 0.00001
NM_003896.4(ST3GAL5):c.1024G>T (p.Gly342Cys) rs367638648 0.00001
NM_003896.4(ST3GAL5):c.1076C>T (p.Ala359Val) rs201425015 0.00001
NM_003896.4(ST3GAL5):c.1096A>G (p.Asn366Asp) rs1434714004 0.00001
NM_003896.4(ST3GAL5):c.1105A>G (p.Arg369Gly) rs745878094 0.00001
NM_003896.4(ST3GAL5):c.1165C>G (p.His389Asp) rs140151286 0.00001
NM_003896.4(ST3GAL5):c.1229T>C (p.Leu410Pro) rs1287781304 0.00001
NM_003896.4(ST3GAL5):c.154C>G (p.Arg52Gly) rs748497823 0.00001
NM_003896.4(ST3GAL5):c.176G>A (p.Arg59Lys) rs755169375 0.00001
NM_003896.4(ST3GAL5):c.211A>G (p.Thr71Ala) rs755223491 0.00001
NM_003896.4(ST3GAL5):c.361C>T (p.Arg121Cys) rs779973935 0.00001
NM_003896.4(ST3GAL5):c.418G>A (p.Asp140Asn) rs1159398814 0.00001
NM_003896.4(ST3GAL5):c.422T>C (p.Leu141Ser) rs772327731 0.00001
NM_003896.4(ST3GAL5):c.475G>A (p.Asp159Asn) rs1449113934 0.00001
NM_003896.4(ST3GAL5):c.494G>A (p.Arg165Gln) rs755483443 0.00001
NM_003896.4(ST3GAL5):c.541C>T (p.His181Tyr) rs750698842 0.00001
NM_003896.4(ST3GAL5):c.581G>A (p.Arg194His) rs535561837 0.00001
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser) rs952271385 0.00001
NM_003896.4(ST3GAL5):c.762A>C (p.Glu254Asp) rs1191405507 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_003896.4(ST3GAL5):c.863G>A (p.Arg288Gln) rs761548748 0.00001
NM_003896.4(ST3GAL5):c.8C>A (p.Thr3Lys) rs913893607 0.00001
NM_003896.4(ST3GAL5):c.957T>G (p.Phe319Leu) rs747318909 0.00001
NM_004004.6(GJB2):c.*4A>G rs745748793 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.-22-7T>C rs372197957 0.00001
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr) rs1373154561 0.00001
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023 0.00001
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu) rs757699303 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter) rs766975999 0.00001
NM_004086.3(COCH):c.*275C>T rs886050445 0.00001
NM_004086.3(COCH):c.*58A>G rs886050444 0.00001
NM_004086.3(COCH):c.108C>T (p.Thr36=) rs372237012 0.00001
NM_004100.5(EYA4):c.*1440C>A rs1251468796 0.00001
NM_004100.5(EYA4):c.*1551G>T rs895041455 0.00001
NM_004100.5(EYA4):c.*1943C>T rs150567885 0.00001
NM_004100.5(EYA4):c.*2660T>C rs886061096 0.00001
NM_004100.5(EYA4):c.-256C>T rs886061086 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) rs1173508611 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004153.3(ORC1):c.-199C>G rs886046401 0.00001
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln) rs886046397 0.00001
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr) rs886046396 0.00001
NM_004153.4(ORC1):c.2418C>T (p.Cys806=) rs1485646346 0.00001
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu) rs1222973227 0.00001
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp) rs767264406 0.00001
NM_004153.4(ORC1):c.387C>T (p.Ile129=) rs886046400 0.00001
NM_004153.4(ORC1):c.435G>A (p.Pro145=) rs886046398 0.00001
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr) rs753124340 0.00001
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys) rs1291867337 0.00001
NM_004153.4(ORC1):c.934C>T (p.Pro312Ser) rs772037188 0.00001
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_004393.6(DAG1):c.1015G>A (p.Val339Met) rs763537489 0.00001
NM_004393.6(DAG1):c.1067C>T (p.Pro356Leu) rs757225645 0.00001
NM_004393.6(DAG1):c.1088C>T (p.Pro363Leu) rs2051348754 0.00001
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met) rs746712913 0.00001
NM_004393.6(DAG1):c.1130T>C (p.Ile377Thr) rs772614314 0.00001
NM_004393.6(DAG1):c.1193C>G (p.Pro398Arg) rs751173028 0.00001
NM_004393.6(DAG1):c.1315A>G (p.Thr439Ala) rs747370227 0.00001
NM_004393.6(DAG1):c.1321T>C (p.Ser441Pro) rs899605177 0.00001
NM_004393.6(DAG1):c.1358C>T (p.Pro453Leu) rs888121881 0.00001
NM_004393.6(DAG1):c.1379C>T (p.Pro460Leu) rs2051359862 0.00001
NM_004393.6(DAG1):c.1382G>A (p.Arg461Gln) rs755343255 0.00001
NM_004393.6(DAG1):c.1436G>A (p.Arg479His) rs369458042 0.00001
NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys) rs763653277 0.00001
NM_004393.6(DAG1):c.1445C>T (p.Thr482Ile) rs753581815 0.00001
NM_004393.6(DAG1):c.1466G>A (p.Arg489His) rs373379560 0.00001
NM_004393.6(DAG1):c.1476A>C (p.Glu492Asp) rs1251608960 0.00001
NM_004393.6(DAG1):c.148A>G (p.Met50Val) rs758104540 0.00001
NM_004393.6(DAG1):c.1514G>A (p.Arg505Lys) rs1411304453 0.00001
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) rs142703906 0.00001
NM_004393.6(DAG1):c.1621C>T (p.Arg541Trp) rs944959231 0.00001
NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln) rs1425201998 0.00001
NM_004393.6(DAG1):c.1747G>A (p.Gly583Arg) rs781334046 0.00001
NM_004393.6(DAG1):c.1751G>T (p.Gly584Val) rs547711379 0.00001
NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro) rs772951856 0.00001
NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys) rs759029561 0.00001
NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys) rs750567574 0.00001
NM_004393.6(DAG1):c.1793G>A (p.Arg598His) rs201268364 0.00001
NM_004393.6(DAG1):c.1892A>G (p.Lys631Arg) rs767737971 0.00001
NM_004393.6(DAG1):c.1919G>A (p.Arg640Gln) rs753665385 0.00001
NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln) rs368810294 0.00001
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr) rs561289962 0.00001
NM_004393.6(DAG1):c.2140C>T (p.Arg714Trp) rs751260925 0.00001
NM_004393.6(DAG1):c.2174G>T (p.Arg725Met) rs775808647 0.00001
NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu) rs148514520 0.00001
NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro) rs762713364 0.00001
NM_004393.6(DAG1):c.2201C>G (p.Thr734Arg) rs940802757 0.00001
NM_004393.6(DAG1):c.2240A>T (p.Asp747Val) rs755687939 0.00001
NM_004393.6(DAG1):c.2267C>T (p.Pro756Leu) rs1277865091 0.00001
NM_004393.6(DAG1):c.227G>A (p.Arg76His) rs950805280 0.00001
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro) rs2050743041 0.00001
NM_004393.6(DAG1):c.2307C>G (p.Ile769Met) rs1319468242 0.00001
NM_004393.6(DAG1):c.2314A>G (p.Met772Val) rs1054272302 0.00001
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln) rs1283360967 0.00001
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) rs1426926145 0.00001
NM_004393.6(DAG1):c.2392A>G (p.Ile798Val) rs1290898131 0.00001
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) rs199501149 0.00001
NM_004393.6(DAG1):c.2510C>G (p.Pro837Arg) rs886043326 0.00001
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met) rs977000024 0.00001
NM_004393.6(DAG1):c.2579C>T (p.Ala860Val) rs1192529932 0.00001
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690 0.00001
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) rs147831615 0.00001
NM_004393.6(DAG1):c.2647A>G (p.Met883Val) rs754908618 0.00001
NM_004393.6(DAG1):c.403G>A (p.Ala135Thr) rs774419205 0.00001
NM_004393.6(DAG1):c.403G>T (p.Ala135Ser) rs774419205 0.00001
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala) rs1421891404 0.00001
NM_004393.6(DAG1):c.497C>T (p.Ser166Leu) rs556413209 0.00001
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) rs772976299 0.00001
NM_004393.6(DAG1):c.643C>T (p.Arg215Trp) rs562046526 0.00001
NM_004393.6(DAG1):c.644G>A (p.Arg215Gln) rs144753260 0.00001
NM_004393.6(DAG1):c.659T>C (p.Val220Ala) rs998718075 0.00001
NM_004393.6(DAG1):c.740A>G (p.Asn247Ser) rs1320232858 0.00001
NM_004393.6(DAG1):c.80C>G (p.Ala27Gly) rs752128921 0.00001
NM_004393.6(DAG1):c.820A>G (p.Ile274Val) rs1281997226 0.00001
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) rs752813826 0.00001
NM_004393.6(DAG1):c.967G>T (p.Ala323Ser) rs767067590 0.00001
NM_004407.4(DMP1):c.*27C>T rs765769920 0.00001
NM_004407.4(DMP1):c.*438G>T rs925863986 0.00001
NM_004407.4(DMP1):c.*898G>T rs535279544 0.00001
NM_004407.4(DMP1):c.1333G>A (p.Glu445Lys) rs761098924 0.00001
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1490A>T (p.His497Leu) rs376245118 0.00001
NM_004407.4(DMP1):c.542G>A (p.Gly181Asp) rs529731862 0.00001
NM_004407.4(DMP1):c.658C>A (p.Pro220Thr) rs367695473 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_004415.4(DSP):c.*112A>G rs141059005 0.00001
NM_004415.4(DSP):c.*137T>C rs756543548 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu) rs1430756602 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.2872A>G (p.Ile958Val) rs377116090 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp) rs201426875 0.00001
NM_004447.6(EPS8):c.449C>T (p.Ala150Val) rs769820275 0.00001
NM_004452.4(ESRRB):c.-300A>G rs556338868 0.00001
NM_004525.3(LRP2):c.*1365A>G rs975265788 0.00001
NM_004525.3(LRP2):c.*310C>T rs753321063 0.00001
NM_004525.3(LRP2):c.*991C>T rs1403428051 0.00001
NM_004525.3(LRP2):c.*997T>C rs1343679502 0.00001
NM_004525.3(LRP2):c.10226A>G (p.His3409Arg) rs763431942 0.00001
NM_004525.3(LRP2):c.10234G>A (p.Ala3412Thr) rs147922851 0.00001
NM_004525.3(LRP2):c.10687G>A (p.Gly3563Ser) rs745375377 0.00001
NM_004525.3(LRP2):c.10703C>T (p.Pro3568Leu) rs753477259 0.00001
NM_004525.3(LRP2):c.10768G>A (p.Glu3590Lys) rs1412113808 0.00001
NM_004525.3(LRP2):c.10814G>A (p.Arg3605His) rs780595186 0.00001
NM_004525.3(LRP2):c.10894A>G (p.Ser3632Gly) rs17848188 0.00001
NM_004525.3(LRP2):c.11015T>C (p.Met3672Thr) rs760404717 0.00001
NM_004525.3(LRP2):c.11063C>T (p.Thr3688Ile) rs749740810 0.00001
NM_004525.3(LRP2):c.11150G>C (p.Arg3717Thr) rs1165934355 0.00001
NM_004525.3(LRP2):c.11154A>G (p.Thr3718=) rs748170950 0.00001
NM_004525.3(LRP2):c.11287G>A (p.Glu3763Lys) rs775918663 0.00001
NM_004525.3(LRP2):c.11554C>G (p.His3852Asp) rs747599660 0.00001
NM_004525.3(LRP2):c.1204C>T (p.Arg402Trp) rs780687414 0.00001
NM_004525.3(LRP2):c.1240T>C (p.Phe414Leu) rs750836745 0.00001
NM_004525.3(LRP2):c.12453G>C (p.Trp4151Cys) rs886055079 0.00001
NM_004525.3(LRP2):c.12511C>G (p.Leu4171Val) rs755703773 0.00001
NM_004525.3(LRP2):c.12571G>A (p.Ala4191Thr) rs760003289 0.00001
NM_004525.3(LRP2):c.12591-8T>C rs755358226 0.00001
NM_004525.3(LRP2):c.12639C>T (p.Ala4213=) rs776654695 0.00001
NM_004525.3(LRP2):c.1268G>A (p.Arg423His) rs1386254805 0.00001
NM_004525.3(LRP2):c.13181C>T (p.Thr4394Ile) rs1482750340 0.00001
NM_004525.3(LRP2):c.13238C>T (p.Ala4413Val) rs144456548 0.00001
NM_004525.3(LRP2):c.13366C>T (p.Pro4456Ser) rs772901117 0.00001
NM_004525.3(LRP2):c.13380G>C (p.Lys4460Asn) rs769261622 0.00001
NM_004525.3(LRP2):c.13422G>A (p.Gly4474=) rs769352361 0.00001
NM_004525.3(LRP2):c.13518+14C>T rs777703505 0.00001
NM_004525.3(LRP2):c.13936G>A (p.Ala4646Thr) rs202210831 0.00001
NM_004525.3(LRP2):c.13937C>T (p.Ala4646Val) rs371806198 0.00001
NM_004525.3(LRP2):c.1496G>A (p.Ser499Asn) rs750613446 0.00001
NM_004525.3(LRP2):c.1549G>A (p.Val517Met) rs770524674 0.00001
NM_004525.3(LRP2):c.1558A>G (p.Thr520Ala) rs550162440 0.00001
NM_004525.3(LRP2):c.1607C>G (p.Pro536Arg) rs754796717 0.00001
NM_004525.3(LRP2):c.1642C>T (p.Arg548Cys) rs201490492 0.00001
NM_004525.3(LRP2):c.1653G>T (p.Leu551Phe) rs1416270515 0.00001
NM_004525.3(LRP2):c.1709G>A (p.Arg570His) rs770867082 0.00001
NM_004525.3(LRP2):c.1751T>C (p.Val584Ala) rs750282124 0.00001
NM_004525.3(LRP2):c.1937A>G (p.Tyr646Cys) rs566216372 0.00001
NM_004525.3(LRP2):c.1960C>G (p.Leu654Val) rs760886197 0.00001
NM_004525.3(LRP2):c.2062C>T (p.Arg688Cys) rs752833620 0.00001
NM_004525.3(LRP2):c.2489C>T (p.Ser830Leu) rs767925581 0.00001
NM_004525.3(LRP2):c.2539C>T (p.Arg847Cys) rs773623041 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004525.3(LRP2):c.2688C>G (p.His896Gln) rs1306828984 0.00001
NM_004525.3(LRP2):c.2869A>G (p.Ile957Val) rs886055089 0.00001
NM_004525.3(LRP2):c.2885C>T (p.Ser962Leu) rs575919892 0.00001
NM_004525.3(LRP2):c.2907T>G (p.Thr969=) rs775082388 0.00001
NM_004525.3(LRP2):c.2908+11T>C rs886055088 0.00001
NM_004525.3(LRP2):c.2944G>A (p.Gly982Ser) rs116482338 0.00001
NM_004525.3(LRP2):c.3002C>G (p.Pro1001Arg) rs777676007 0.00001
NM_004525.3(LRP2):c.3039C>T (p.Cys1013=) rs200245838 0.00001
NM_004525.3(LRP2):c.3212C>T (p.Ala1071Val) rs756882589 0.00001
NM_004525.3(LRP2):c.3419A>T (p.Glu1140Val) rs1689938381 0.00001
NM_004525.3(LRP2):c.3444A>G (p.Thr1148=) rs147495264 0.00001
NM_004525.3(LRP2):c.3472A>G (p.Asn1158Asp) rs777988034 0.00001
NM_004525.3(LRP2):c.3602T>C (p.Ile1201Thr) rs767986542 0.00001
NM_004525.3(LRP2):c.3617G>A (p.Arg1206His) rs377534549 0.00001
NM_004525.3(LRP2):c.3721G>T (p.Gly1241Cys) rs1187539374 0.00001
NM_004525.3(LRP2):c.4066T>A (p.Phe1356Ile) rs775393937 0.00001
NM_004525.3(LRP2):c.4270G>T (p.Asp1424Tyr) rs777093582 0.00001
NM_004525.3(LRP2):c.453T>G (p.Thr151=) rs542440231 0.00001
NM_004525.3(LRP2):c.4561C>T (p.Arg1521Cys) rs755634495 0.00001
NM_004525.3(LRP2):c.4691+7del rs775018424 0.00001
NM_004525.3(LRP2):c.4804G>A (p.Gly1602Ser) rs765078256 0.00001
NM_004525.3(LRP2):c.4849T>A (p.Ser1617Thr) rs775105684 0.00001
NM_004525.3(LRP2):c.4855C>A (p.Leu1619Ile) rs766931921 0.00001
NM_004525.3(LRP2):c.4894C>T (p.Arg1632Trp) rs773659431 0.00001
NM_004525.3(LRP2):c.4920+6T>C rs748575807 0.00001
NM_004525.3(LRP2):c.4990C>T (p.Arg1664Trp) rs141693781 0.00001
NM_004525.3(LRP2):c.5429A>G (p.Asn1810Ser) rs1447688378 0.00001
NM_004525.3(LRP2):c.5701G>A (p.Ala1901Thr) rs533012078 0.00001
NM_004525.3(LRP2):c.5755G>A (p.Glu1919Lys) rs561702323 0.00001
NM_004525.3(LRP2):c.5867T>G (p.Leu1956Arg) rs756470766 0.00001
NM_004525.3(LRP2):c.6040+3A>G rs758556195 0.00001
NM_004525.3(LRP2):c.6072C>A (p.Asn2024Lys) rs886055085 0.00001
NM_004525.3(LRP2):c.6374G>A (p.Arg2125His) rs752202886 0.00001
NM_004525.3(LRP2):c.6420T>C (p.His2140=) rs374577157 0.00001
NM_004525.3(LRP2):c.64C>T (p.Pro22Ser) rs759114383 0.00001
NM_004525.3(LRP2):c.6545G>A (p.Arg2182His) rs199813044 0.00001
NM_004525.3(LRP2):c.6575C>G (p.Pro2192Arg) rs780008529 0.00001
NM_004525.3(LRP2):c.6671A>G (p.Asn2224Ser) rs957137487 0.00001
NM_004525.3(LRP2):c.6710G>A (p.Arg2237Gln) rs927460259 0.00001
NM_004525.3(LRP2):c.7247A>G (p.Asn2416Ser) rs1326475927 0.00001
NM_004525.3(LRP2):c.8020G>A (p.Glu2674Lys) rs763170196 0.00001
NM_004525.3(LRP2):c.8096G>A (p.Arg2699Gln) rs867912144 0.00001
NM_004525.3(LRP2):c.8276G>A (p.Arg2759His) rs754025614 0.00001
NM_004525.3(LRP2):c.8623C>T (p.Arg2875Cys) rs1308246487 0.00001
NM_004525.3(LRP2):c.863G>A (p.Gly288Glu) rs147110349 0.00001
NM_004525.3(LRP2):c.8702A>G (p.His2901Arg) rs886055083 0.00001
NM_004525.3(LRP2):c.8778C>T (p.Asp2926=) rs199845695 0.00001
NM_004525.3(LRP2):c.9290T>C (p.Leu3097Pro) rs892125029 0.00001
NM_004525.3(LRP2):c.9733G>A (p.Asp3245Asn) rs759025536 0.00001
NM_004525.3(LRP2):c.9888C>T (p.Val3296=) rs1247394189 0.00001
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys) rs373695678 0.00001
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919 0.00001
NM_004539.4(NARS1):c.1376C>T (p.Thr459Ile) rs774597440 0.00001
NM_004539.4(NARS1):c.394G>T (p.Gly132Cys) rs1402942713 0.00001
NM_004539.4(NARS1):c.644G>T (p.Gly215Val) rs2051570122 0.00001
NM_004560.4(ROR2):c.-154G>C rs1057515684 0.00001
NM_004560.4(ROR2):c.-66G>T rs1463989966 0.00001
NM_004560.4(ROR2):c.-90A>G rs1587871077 0.00001
NM_004560.4(ROR2):c.1279A>G (p.Met427Val) rs148390451 0.00001
NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr) rs144447132 0.00001
NM_004560.4(ROR2):c.1322G>A (p.Arg441Gln) rs142993413 0.00001
NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn) rs142047260 0.00001
NM_004560.4(ROR2):c.1566G>T (p.Arg522=) rs755724416 0.00001
NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys) rs1489863862 0.00001
NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys) rs186571882 0.00001
NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe) rs769849104 0.00001
NM_004560.4(ROR2):c.2155G>A (p.Ala719Thr) rs375448033 0.00001
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter) rs374646337 0.00001
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) rs532042443 0.00001
NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala) rs1253369894 0.00001
NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) rs370882834 0.00001
NM_004560.4(ROR2):c.334C>T (p.Arg112Trp) rs868585233 0.00001
NM_004560.4(ROR2):c.457C>T (p.Arg153Trp) rs745695427 0.00001
NM_004560.4(ROR2):c.533G>A (p.Arg178Gln) rs746562213 0.00001
NM_004560.4(ROR2):c.768C>T (p.Cys256=) rs772113008 0.00001
NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) rs543118807 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004565.3(PEX14):c.*256A>G rs373498478 0.00001
NM_004565.3(PEX14):c.*459T>C rs954625667 0.00001
NM_004565.3(PEX14):c.1025G>A (p.Cys342Tyr) rs774432688 0.00001
NM_004565.3(PEX14):c.1052G>A (p.Arg351Gln) rs960056444 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_004565.3(PEX14):c.1121G>A (p.Ser374Asn) rs1305475145 0.00001
NM_004565.3(PEX14):c.124C>T (p.Arg42Cys) rs540190684 0.00001
NM_004565.3(PEX14):c.163A>C (p.Lys55Gln) rs753472251 0.00001
NM_004565.3(PEX14):c.188T>C (p.Ile63Thr) rs762505617 0.00001
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu) rs751540499 0.00001
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) rs778315559 0.00001
NM_004565.3(PEX14):c.311C>T (p.Ser104Phe) rs756523143 0.00001
NM_004565.3(PEX14):c.314G>A (p.Arg105Gln) rs754085368 0.00001
NM_004565.3(PEX14):c.328G>A (p.Gly110Ser) rs771702217 0.00001
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr) rs758492014 0.00001
NM_004565.3(PEX14):c.36+6G>T rs369035854 0.00001
NM_004565.3(PEX14):c.382A>G (p.Lys128Glu) rs756676436 0.00001
NM_004565.3(PEX14):c.41G>A (p.Ser14Asn) rs1641538447 0.00001
NM_004565.3(PEX14):c.44C>G (p.Ser15Cys) rs755705743 0.00001
NM_004565.3(PEX14):c.511G>A (p.Ala171Thr) rs1330745700 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.556G>C (p.Glu186Gln) rs543130270 0.00001
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys) rs1370410030 0.00001
NM_004565.3(PEX14):c.648T>G (p.Ile216Met) rs756446450 0.00001
NM_004565.3(PEX14):c.77A>G (p.Glu26Gly) rs1407518602 0.00001
NM_004565.3(PEX14):c.888G>T (p.Gln296His) rs1358510161 0.00001
NM_004565.3(PEX14):c.896G>A (p.Gly299Asp) rs140533305 0.00001
NM_004565.3(PEX14):c.902G>T (p.Gly301Val) rs773005677 0.00001
NM_004565.3(PEX14):c.912C>T (p.Asp304=) rs1202283239 0.00001
NM_004618.5(TOP3A):c.2056C>T (p.Arg686Cys) rs1239276927 0.00001
NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln) rs551509351 0.00001
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu) rs887762794 0.00001
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His) rs371301199 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) rs775838916 0.00001
NM_004813.4(PEX16):c.*277C>T rs886048326 0.00001
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg) rs754220780 0.00001
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln) rs143737124 0.00001
NM_004813.4(PEX16):c.202G>A (p.Glu68Lys) rs374895823 0.00001
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) rs139930879 0.00001
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser) rs2086854956 0.00001
NM_004813.4(PEX16):c.325C>T (p.Arg109Cys) rs779016766 0.00001
NM_004813.4(PEX16):c.370C>T (p.Arg124Trp) rs754748410 0.00001
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln) rs751381531 0.00001
NM_004813.4(PEX16):c.448G>T (p.Ala150Ser) rs772360222 0.00001
NM_004813.4(PEX16):c.461-6del rs1344841850 0.00001
NM_004813.4(PEX16):c.492G>C (p.Gln164His) rs773347735 0.00001
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu) rs755516862 0.00001
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp) rs557365860 0.00001
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys) rs368553807 0.00001
NM_004813.4(PEX16):c.623C>T (p.Ala208Val) rs201173264 0.00001
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu) rs565706311 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 0.00001
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) rs2086807349 0.00001
NM_004813.4(PEX16):c.734C>T (p.Pro245Leu) rs1364730132 0.00001
NM_004813.4(PEX16):c.752T>G (p.Val251Gly) rs759092071 0.00001
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp) rs886044625 0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) rs769838583 0.00001
NM_004813.4(PEX16):c.820C>A (p.Leu274Met) rs751273439 0.00001
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp) rs372815115 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly) rs887278864 0.00001
NM_004813.4(PEX16):c.962T>C (p.Met321Thr) rs758636115 0.00001
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) rs751590798 0.00001
NM_004836.7(EIF2AK3):c.*712C>T rs1415152930 0.00001
NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile) rs1674857627 0.00001
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) rs965316271 0.00001
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) rs1674713665 0.00001
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) rs758957898 0.00001
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) rs776579341 0.00001
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567 0.00001
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191 0.00001
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115 0.00001
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) rs781754103 0.00001
NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu) rs374540128 0.00001
NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg) rs752726105 0.00001
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val) rs759906972 0.00001
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr) rs766524866 0.00001
NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn) rs762080456 0.00001
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) rs984341375 0.00001
NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys) rs775353963 0.00001
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) rs375371096 0.00001
NM_004839.4(HOMER2):c.130A>G (p.Ser44Gly) rs1308445013 0.00001
NM_004937.2(CTNS):c.-429T>C rs886052860 0.00001
NM_004937.3(CTNS):c.*1250G>A rs960133187 0.00001
NM_004937.3(CTNS):c.*1472G>A rs563539494 0.00001
NM_004937.3(CTNS):c.*1501T>C rs886052879 0.00001
NM_004937.3(CTNS):c.*2139T>C rs1180495360 0.00001
NM_004937.3(CTNS):c.*599T>C rs1389727221 0.00001
NM_004937.3(CTNS):c.-24C>T rs886052866 0.00001
NM_004937.3(CTNS):c.-8C>T rs372701935 0.00001
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu) rs762561354 0.00001
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=) rs1210146657 0.00001
NM_004937.3(CTNS):c.140+3A>G rs778641729 0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) rs745744798 0.00001
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys) rs771990787 0.00001
NM_004937.3(CTNS):c.363C>T (p.Ser121=) rs746463725 0.00001
NM_004937.3(CTNS):c.367A>G (p.Ile123Val) rs776104111 0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu) rs1009882965 0.00001
NM_004937.3(CTNS):c.442A>T (p.Met148Leu) rs779895948 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser) rs752632797 0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr) rs768188337 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) rs752869556 0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu) rs759921102 0.00001
NM_004999.4(MYO6):c.*1030T>C rs886061767 0.00001
NM_004999.4(MYO6):c.*2410T>C rs1475834409 0.00001
NM_004999.4(MYO6):c.*2572A>C rs1338857560 0.00001
NM_004999.4(MYO6):c.*3032C>T rs1028807508 0.00001
NM_004999.4(MYO6):c.*3064A>G rs1455253489 0.00001
NM_004999.4(MYO6):c.*3364A>G rs1457788079 0.00001
NM_004999.4(MYO6):c.*34T>G rs1562323292 0.00001
NM_004999.4(MYO6):c.*3524A>G rs886061778 0.00001
NM_004999.4(MYO6):c.*3549C>T rs1414053280 0.00001
NM_004999.4(MYO6):c.*3926T>C rs1296097210 0.00001
NM_004999.4(MYO6):c.*4196T>C rs1168354848 0.00001
NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) rs377470568 0.00001
NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln) rs752489259 0.00001
NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) rs1344197751 0.00001
NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) rs1409939234 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) rs1554223761 0.00001
NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) rs779535270 0.00001
NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) rs751775864 0.00001
NM_004999.4(MYO6):c.438T>C (p.Ser146=) rs1773255262 0.00001
NM_004999.4(MYO6):c.564C>T (p.Leu188=) rs750374337 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.755G>A (p.Cys252Tyr) rs777614964 0.00001
NM_004999.4(MYO6):c.908C>T (p.Ala303Val) rs776690609 0.00001
NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln) rs755148348 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005199.5(CHRNG):c.394G>A (p.Val132Met) rs781249093 0.00001
NM_005199.5(CHRNG):c.5A>T (p.His2Leu) rs775592546 0.00001
NM_005219.5(DIAPH1):c.*1654C>G rs886060024 0.00001
NM_005219.5(DIAPH1):c.*724C>T rs1019753124 0.00001
NM_005219.5(DIAPH1):c.-85A>G rs886060036 0.00001
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val) rs1374331735 0.00001
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val) rs374115798 0.00001
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr) rs1184130282 0.00001
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg) rs756750537 0.00001
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=) rs753420499 0.00001
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly) rs1236323559 0.00001
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) rs367592859 0.00001
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln) rs375904152 0.00001
NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe) rs371587729 0.00001
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln) rs754559074 0.00001
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) rs895429714 0.00001
NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp) rs1305661080 0.00001
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln) rs727502964 0.00001
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg) rs779687295 0.00001
NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp) rs756545968 0.00001
NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly) rs1342839445 0.00001
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His) rs759051179 0.00001
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala) rs747462106 0.00001
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) rs758517099 0.00001
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly) rs762375683 0.00001
NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser) rs772634604 0.00001
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu) rs746371106 0.00001
NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser) rs372170639 0.00001
NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala) rs761554818 0.00001
NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala) rs769926497 0.00001
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) rs751847293 0.00001
NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser) rs1455766498 0.00001
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744 0.00001
NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu) rs1229036082 0.00001
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu) rs1245809874 0.00001
NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys) rs757761745 0.00001
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys) rs745759508 0.00001
NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg) rs769148092 0.00001
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly) rs748806020 0.00001
NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp) rs754235853 0.00001
NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe) rs2099895261 0.00001
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) rs766731479 0.00001
NM_005219.5(DIAPH1):c.2474-11T>C rs1356596414 0.00001
NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln) rs991588859 0.00001
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00001
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816 0.00001
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met) rs773243948 0.00001
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln) rs758893826 0.00001
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys) rs750941858 0.00001
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser) rs1040008297 0.00001
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val) rs2099887790 0.00001
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe) rs1431409262 0.00001
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln) rs1006618137 0.00001
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile) rs752924382 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg) rs756215904 0.00001
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg) rs757169374 0.00001
NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala) rs760138089 0.00001
NM_005219.5(DIAPH1):c.3274-5T>A rs748520819 0.00001
NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys) rs772204178 0.00001
NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val) rs1283993189 0.00001
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) rs756003432 0.00001
NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser) rs1232760149 0.00001
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln) rs200419320 0.00001
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly) rs762848470 0.00001
NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln) rs1355259448 0.00001
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln) rs373679838 0.00001
NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys) rs373270436 0.00001
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser) rs1423948383 0.00001
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu) rs2099885784 0.00001
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser) rs748341361 0.00001
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) rs546064158 0.00001
NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala) rs1163619347 0.00001
NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys) rs758272814 0.00001
NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys) rs1251709997 0.00001
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys) rs746125273 0.00001
NM_005219.5(DIAPH1):c.620+8C>G rs759235916 0.00001
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly) rs1424725542 0.00001
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) rs727504973 0.00001
NM_005219.5(DIAPH1):c.684+6A>G rs1038136298 0.00001
NM_005219.5(DIAPH1):c.70G>C (p.Asp24His) rs1276900007 0.00001
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) rs766359994 0.00001
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=) rs886060034 0.00001
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala) rs778493344 0.00001
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) rs757469488 0.00001
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) rs1034109754 0.00001
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr) rs1458037304 0.00001
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) rs765535723 0.00001
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) rs774643449 0.00001
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) rs751348446 0.00001
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) rs767454772 0.00001
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=) rs752193295 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly) rs751095195 0.00001
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn) rs767138486 0.00001
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly) rs752379459 0.00001
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val) rs767408205 0.00001
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys) rs1473430382 0.00001
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg) rs1001540758 0.00001
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr) rs368559924 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg) rs759312308 0.00001
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys) rs757860762 0.00001
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) rs766111215 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser) rs753506602 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_005236.3(ERCC4):c.2017+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) rs772728961 0.00001
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) rs765712858 0.00001
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu) rs774635437 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) rs377562755 0.00001
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser) rs749822053 0.00001
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys) rs587778284 0.00001
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) rs191886782 0.00001
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys) rs2032564211 0.00001
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) rs2020956 0.00001
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) rs767586458 0.00001
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val) rs753596005 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 0.00001
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu) rs754622238 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) rs748499820 0.00001
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu) rs370864937 0.00001
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu) rs765111229 0.00001
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile) rs1265753536 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) rs2032156137 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) rs121909306 0.00001
NM_005422.4(TECTA):c.1143C>G (p.Leu381=) rs369118145 0.00001
NM_005422.4(TECTA):c.1356C>T (p.Ser452=) rs763431691 0.00001
NM_005422.4(TECTA):c.1498G>A (p.Asp500Asn) rs754964995 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005422.4(TECTA):c.2409G>A (p.Ser803=) rs778543447 0.00001
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys) rs778979756 0.00001
NM_005422.4(TECTA):c.2674C>A (p.Leu892Met) rs748088048 0.00001
NM_005422.4(TECTA):c.2835G>A (p.Gln945=) rs371290564 0.00001
NM_005422.4(TECTA):c.2876G>A (p.Arg959Gln) rs150403193 0.00001
NM_005422.4(TECTA):c.3138C>T (p.Ala1046=) rs886047840 0.00001
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met) rs746231346 0.00001
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser) rs727504469 0.00001
NM_005422.4(TECTA):c.4168G>A (p.Ala1390Thr) rs1481202790 0.00001
NM_005422.4(TECTA):c.4289A>G (p.Asp1430Gly) rs770316975 0.00001
NM_005422.4(TECTA):c.4337C>G (p.Thr1446Arg) rs72998913 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_005422.4(TECTA):c.4977-12C>T rs886047843 0.00001
NM_005422.4(TECTA):c.5114A>G (p.Tyr1705Cys) rs886047844 0.00001
NM_005422.4(TECTA):c.5205C>T (p.Ala1735=) rs762504147 0.00001
NM_005422.4(TECTA):c.5260A>G (p.Lys1754Glu) rs1312695280 0.00001
NM_005422.4(TECTA):c.5362G>A (p.Glu1788Lys) rs1370738313 0.00001
NM_005422.4(TECTA):c.5550C>G (p.Ile1850Met) rs775852521 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5908G>A (p.Ala1970Thr) rs202079138 0.00001
NM_005422.4(TECTA):c.5913A>T (p.Thr1971=) rs200655923 0.00001
NM_005422.4(TECTA):c.6069C>T (p.His2023=) rs759915442 0.00001
NM_005422.4(TECTA):c.6103G>A (p.Glu2035Lys) rs267602733 0.00001
NM_005422.4(TECTA):c.6301C>T (p.Arg2101Trp) rs746566852 0.00001
NM_005422.4(TECTA):c.805C>G (p.Arg269Gly) rs777704329 0.00001
NM_005422.4(TECTA):c.880T>C (p.Cys294Arg) rs1352301200 0.00001
NM_005522.5(HOXA1):c.*1150C>T rs886062254 0.00001
NM_005522.5(HOXA1):c.*337G>A rs576914419 0.00001
NM_005522.5(HOXA1):c.*953G>A rs528003903 0.00001
NM_005522.5(HOXA1):c.196C>T (p.His66Tyr) rs777153568 0.00001
NM_005522.5(HOXA1):c.546T>C (p.Pro182=) rs886062258 0.00001
NM_005522.5(HOXA1):c.686C>A (p.Pro229His) rs759032142 0.00001
NM_005522.5(HOXA1):c.691G>A (p.Ala231Thr) rs779419910 0.00001
NM_005522.5(HOXA1):c.813C>T (p.Thr271=) rs1435619628 0.00001
NM_005522.5(HOXA1):c.825C>T (p.Ile275=) rs886062257 0.00001
NM_005529.7(HSPG2):c.1033G>A (p.Asp345Asn) rs755218466 0.00001
NM_005529.7(HSPG2):c.10402G>A (p.Ala3468Thr) rs1013471019 0.00001
NM_005529.7(HSPG2):c.10497C>T (p.Thr3499=) rs758425905 0.00001
NM_005529.7(HSPG2):c.10831-15C>G rs761025182 0.00001
NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro) rs771019769 0.00001
NM_005529.7(HSPG2):c.1136A>G (p.Asn379Ser) rs886046045 0.00001
NM_005529.7(HSPG2):c.11422C>T (p.Pro3808Ser) rs755818301 0.00001
NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=) rs760805332 0.00001
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln) rs558798136 0.00001
NM_005529.7(HSPG2):c.12016G>A (p.Glu4006Lys) rs113448590 0.00001
NM_005529.7(HSPG2):c.12345T>G (p.His4115Gln) rs1219506394 0.00001
NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val) rs779443131 0.00001
NM_005529.7(HSPG2):c.13032C>T (p.Thr4344=) rs778590896 0.00001
NM_005529.7(HSPG2):c.1508-15C>T rs750306743 0.00001
NM_005529.7(HSPG2):c.1609C>T (p.Arg537Trp) rs777781736 0.00001
NM_005529.7(HSPG2):c.1676C>G (p.Ala559Gly) rs748179999 0.00001
NM_005529.7(HSPG2):c.1762C>T (p.Arg588Cys) rs778444704 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val) rs374004974 0.00001
NM_005529.7(HSPG2):c.2092T>C (p.Tyr698His) rs773784309 0.00001
NM_005529.7(HSPG2):c.2147T>C (p.Val716Ala) rs374685217 0.00001
NM_005529.7(HSPG2):c.2195+4C>A rs1641399279 0.00001
NM_005529.7(HSPG2):c.2421G>A (p.Thr807=) rs148592148 0.00001
NM_005529.7(HSPG2):c.2568C>T (p.Pro856=) rs886046042 0.00001
NM_005529.7(HSPG2):c.2641G>A (p.Glu881Lys) rs768350322 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.2822C>T (p.Ala941Val) rs1042462225 0.00001
NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp) rs145498664 0.00001
NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=) rs765575912 0.00001
NM_005529.7(HSPG2):c.3649G>C (p.Ala1217Pro) rs757364480 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=) rs768475262 0.00001
NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=) rs773098995 0.00001
NM_005529.7(HSPG2):c.4895G>C (p.Gly1632Ala) rs748997723 0.00001
NM_005529.7(HSPG2):c.5615C>T (p.Pro1872Leu) rs746717616 0.00001
NM_005529.7(HSPG2):c.5913C>T (p.Arg1971=) rs896647347 0.00001
NM_005529.7(HSPG2):c.6076G>T (p.Val2026Leu) rs886046033 0.00001
NM_005529.7(HSPG2):c.6133+12C>T rs1330380330 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6629C>T (p.Pro2210Leu) rs946013860 0.00001
NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=) rs756830539 0.00001
NM_005529.7(HSPG2):c.6871-10G>A rs1342636987 0.00001
NM_005529.7(HSPG2):c.7036G>A (p.Glu2346Lys) rs371523455 0.00001
NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=) rs764531754 0.00001
NM_005529.7(HSPG2):c.7165G>A (p.Gly2389Ser) rs765181959 0.00001
NM_005529.7(HSPG2):c.7751G>A (p.Arg2584Gln) rs779023853 0.00001
NM_005529.7(HSPG2):c.7872C>T (p.His2624=) rs749008859 0.00001
NM_005529.7(HSPG2):c.8143C>T (p.Pro2715Ser) rs776094320 0.00001
NM_005529.7(HSPG2):c.8203T>G (p.Ser2735Ala) rs762444406 0.00001
NM_005529.7(HSPG2):c.8205C>T (p.Ser2735=) rs773139137 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9024C>T (p.Thr3008=) rs763389929 0.00001
NM_005529.7(HSPG2):c.9404T>A (p.Val3135Asp) rs371072729 0.00001
NM_005529.7(HSPG2):c.9594G>A (p.Val3198=) rs1460932486 0.00001
NM_005529.7(HSPG2):c.9694C>T (p.Arg3232Cys) rs767115080 0.00001
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala) rs149824165 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005548.3(KARS1):c.787T>G (p.Phe263Val) rs772410450 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys) rs1333091798 0.00001
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys) rs773661572 0.00001
NM_005708.5(GPC6):c.*1026T>G rs535690035 0.00001
NM_005708.5(GPC6):c.*1528G>A rs1044895583 0.00001
NM_005708.5(GPC6):c.*2305C>T rs1881332563 0.00001
NM_005708.5(GPC6):c.*3118A>G rs1244841063 0.00001
NM_005708.5(GPC6):c.*3701G>A rs886050362 0.00001
NM_005708.5(GPC6):c.*3716A>T rs886050363 0.00001
NM_005708.5(GPC6):c.*4476A>G rs886050366 0.00001
NM_005708.5(GPC6):c.*522G>A rs886050351 0.00001
NM_005708.5(GPC6):c.1566C>T (p.Pro522=) rs1278326769 0.00001
NM_005708.5(GPC6):c.485A>G (p.Asn162Ser) rs763222689 0.00001
NM_005708.5(GPC6):c.49C>A (p.Leu17Ile) rs748464893 0.00001
NM_005708.5(GPC6):c.585C>T (p.Asp195=) rs369467067 0.00001
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn) rs977658619 0.00001
NM_005861.4(STUB1):c.518G>T (p.Arg173Leu) rs755346712 0.00001
NM_005866.4(SIGMAR1):c.*51G>T rs768783740 0.00001
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser) rs777565671 0.00001
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) rs773344340 0.00001
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) rs1278952640 0.00001
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) rs1241574813 0.00001
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) rs778413865 0.00001
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met) rs745503254 0.00001
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) rs202244713 0.00001
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser) rs1411120179 0.00001
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) rs149409262 0.00001
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn) rs892812356 0.00001
NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met) rs1396152845 0.00001
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) rs541996857 0.00001
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) rs754118993 0.00001
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro) rs1254998914 0.00001
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met) rs62191886 0.00001
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) rs1352203937 0.00001
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu) rs1343314943 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001
NM_005879.3(TRAIP):c.182A>G (p.Lys61Arg) rs751919007 0.00001
NM_005881.4(BCKDK):c.10G>C (p.Ala4Pro) rs775430762 0.00001
NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln) rs766922526 0.00001
NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr) rs556255123 0.00001
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp) rs774302251 0.00001
NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys) rs761322791 0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100 0.00001
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val) rs762482788 0.00001
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597 0.00001
NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly) rs200253972 0.00001
NM_005888.3(SLC25A3):c.-69G>A rs1272113129 0.00001
NM_005982.4(SIX1):c.*161C>A rs886050571 0.00001
NM_005982.4(SIX1):c.*371A>G rs538935374 0.00001
NM_006005.3(WFS1):c.*11C>G rs919707549 0.00001
NM_006005.3(WFS1):c.*14C>T rs775493668 0.00001
NM_006005.3(WFS1):c.*223C>G rs905909594 0.00001
NM_006005.3(WFS1):c.*258A>G rs886059533 0.00001
NM_006005.3(WFS1):c.*37C>A rs1312854010 0.00001
NM_006005.3(WFS1):c.*656C>T rs772538455 0.00001
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) rs771498413 0.00001
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) rs774330485 0.00001
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) rs935411471 0.00001
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) rs775039116 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) rs760990181 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 0.00001
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser) rs553336498 0.00001
NM_006005.3(WFS1):c.1986C>T (p.Ser662=) rs1055393876 0.00001
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) rs1432704019 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) rs200136995 0.00001
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) rs146418094 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) rs752023481 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) rs141816346 0.00001
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) rs763992743 0.00001
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) rs772915458 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) rs142687752 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) rs750861249 0.00001
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) rs774525063 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) rs551867477 0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=) rs199741678 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys) rs1244525711 0.00001
NM_006014.5(LAGE3):c.287A>T (p.Asp96Val) rs201041758 0.00001
NM_006019.4(TCIRG1):c.*34G>A rs772507621 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1305+10G>A rs1405179710 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1402G>A (p.Ala468Thr) rs774244420 0.00001
NM_006019.4(TCIRG1):c.1417C>T (p.Pro473Ser) rs750456593 0.00001
NM_006019.4(TCIRG1):c.1508A>G (p.Asn503Ser) rs369803798 0.00001
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile) rs755559179 0.00001
NM_006019.4(TCIRG1):c.1540T>A (p.Phe514Ile) rs776489478 0.00001
NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu) rs376351835 0.00001
NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu) rs779779379 0.00001
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp) rs890729823 0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp) rs563996115 0.00001
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly) rs576389893 0.00001
NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr) rs751612634 0.00001
NM_006019.4(TCIRG1):c.1845C>T (p.Leu615=) rs755196821 0.00001
NM_006019.4(TCIRG1):c.1887+10G>A rs1241903068 0.00001
NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile) rs760670339 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=) rs780969471 0.00001
NM_006019.4(TCIRG1):c.2071T>C (p.Ser691Pro) rs772173081 0.00001
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=) rs769840926 0.00001
NM_006019.4(TCIRG1):c.2119-13A>T rs886048600 0.00001
NM_006019.4(TCIRG1):c.2122G>A (p.Val708Ile) rs573002924 0.00001
NM_006019.4(TCIRG1):c.2232C>T (p.His744=) rs774906865 0.00001
NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=) rs776554801 0.00001
NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser) rs1308533755 0.00001
NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly) rs147175413 0.00001
NM_006019.4(TCIRG1):c.249G>A (p.Lys83=) rs367708208 0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu) rs982462013 0.00001
NM_006019.4(TCIRG1):c.394C>T (p.Leu132=) rs1410683808 0.00001
NM_006019.4(TCIRG1):c.417+10C>T rs1224261645 0.00001
NM_006019.4(TCIRG1):c.426C>T (p.Ala142=) rs1006980323 0.00001
NM_006019.4(TCIRG1):c.504-12C>T rs1263185890 0.00001
NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys) rs1375468915 0.00001
NM_006019.4(TCIRG1):c.571C>T (p.Arg191Cys) rs867224433 0.00001
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477 0.00001
NM_006019.4(TCIRG1):c.745C>A (p.Gln249Lys) rs751988410 0.00001
NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu) rs1379501520 0.00001
NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu) rs1229696229 0.00001
NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro) rs1449131788 0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr) rs773402451 0.00001
NM_006118.4(HAX1):c.106G>A (p.Glu36Lys) rs754167096 0.00001
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser) rs762584289 0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val) rs1648509630 0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu) rs1389861333 0.00001
NM_006118.4(HAX1):c.469G>A (p.Ala157Thr) rs745643366 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile) rs1024291441 0.00001
NM_006118.4(HAX1):c.680G>T (p.Arg227Leu) rs747372275 0.00001
NM_006118.4(HAX1):c.685G>C (p.Val229Leu) rs1465330876 0.00001
NM_006118.4(HAX1):c.700G>A (p.Gly234Ser) rs1287019123 0.00001
NM_006118.4(HAX1):c.736G>C (p.Asp246His) rs375477111 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser) rs759963419 0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu) rs375704974 0.00001
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln) rs746872949 0.00001
NM_006208.3(ENPP1):c.*120C>T rs1435986196 0.00001
NM_006208.3(ENPP1):c.*1795A>T rs886061074 0.00001
NM_006208.3(ENPP1):c.*1940T>G rs1752128155 0.00001
NM_006208.3(ENPP1):c.*2130C>T rs886061076 0.00001
NM_006208.3(ENPP1):c.*3885C>T rs1223923900 0.00001
NM_006208.3(ENPP1):c.*4047C>T rs1013601584 0.00001
NM_006208.3(ENPP1):c.*4332C>T rs1446084490 0.00001
NM_006208.3(ENPP1):c.*4369C>T rs1300407002 0.00001
NM_006208.3(ENPP1):c.*536T>C rs184796209 0.00001
NM_006208.3(ENPP1):c.*671T>C rs1022965766 0.00001
NM_006208.3(ENPP1):c.*888C>T rs886061069 0.00001
NM_006208.3(ENPP1):c.1296G>C (p.Lys432Asn) rs886061066 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1653T>C (p.Tyr551=) rs1452598874 0.00001
NM_006208.3(ENPP1):c.214C>T (p.Pro72Ser) rs1475050245 0.00001
NM_006208.3(ENPP1):c.443C>G (p.Thr148Ser) rs1481378734 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.802T>C (p.Tyr268His) rs17847050 0.00001
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987 0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) rs759508064 0.00001
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly) rs762516714 0.00001
NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp) rs11554405 0.00001
NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro) rs1482633002 0.00001
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile) rs1187283211 0.00001
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr) rs777734868 0.00001
NM_006397.3(RNASEH2A):c.169C>G (p.Leu57Val) rs775194617 0.00001
NM_006397.3(RNASEH2A):c.199+5G>T rs1969004135 0.00001
NM_006397.3(RNASEH2A):c.229G>A (p.Glu77Lys) rs771469429 0.00001
NM_006397.3(RNASEH2A):c.257C>T (p.Thr86Met) rs193084598 0.00001
NM_006397.3(RNASEH2A):c.284T>C (p.Val95Ala) rs754727728 0.00001
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) rs374650162 0.00001
NM_006397.3(RNASEH2A):c.323+3G>A rs780523288 0.00001
NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile) rs373265362 0.00001
NM_006397.3(RNASEH2A):c.332A>G (p.Tyr111Cys) rs1254142641 0.00001
NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser) rs779298565 0.00001
NM_006397.3(RNASEH2A):c.361G>A (p.Ala121Thr) rs753384166 0.00001
NM_006397.3(RNASEH2A):c.378G>C (p.Gln126His) rs1182449523 0.00001
NM_006397.3(RNASEH2A):c.411+3G>C rs749477709 0.00001
NM_006397.3(RNASEH2A):c.439G>C (p.Glu147Gln) rs769486587 0.00001
NM_006397.3(RNASEH2A):c.452C>T (p.Ala151Val) rs369325444 0.00001
NM_006397.3(RNASEH2A):c.454C>T (p.Arg152Trp) rs942243073 0.00001
NM_006397.3(RNASEH2A):c.475G>A (p.Gly159Arg) rs746950188 0.00001
NM_006397.3(RNASEH2A):c.490G>A (p.Val164Ile) rs904903620 0.00001
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) rs1415211346 0.00001
NM_006397.3(RNASEH2A):c.550G>A (p.Val184Met) rs777679893 0.00001
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala) rs1039519462 0.00001
NM_006397.3(RNASEH2A):c.569T>G (p.Val190Gly) rs1969055468 0.00001
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly) rs1489973272 0.00001
NM_006397.3(RNASEH2A):c.637+8G>A rs757139110 0.00001
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val) rs768625813 0.00001
NM_006397.3(RNASEH2A):c.682T>C (p.Phe228Leu) rs1220751647 0.00001
NM_006397.3(RNASEH2A):c.728C>T (p.Thr243Ile) rs1969098175 0.00001
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys) rs546042666 0.00001
NM_006397.3(RNASEH2A):c.760T>C (p.Trp254Arg) rs757666508 0.00001
NM_006397.3(RNASEH2A):c.762-13C>G rs781591228 0.00001
NM_006397.3(RNASEH2A):c.778G>A (p.Glu260Lys) rs749242017 0.00001
NM_006397.3(RNASEH2A):c.800A>T (p.Lys267Met) rs1337243889 0.00001
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr) rs369098182 0.00001
NM_006397.3(RNASEH2A):c.828_831dup (p.Gln278fs) rs780583621 0.00001
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His) rs756346898 0.00001
NM_006397.3(RNASEH2A):c.844C>T (p.Arg282Cys) rs142642923 0.00001
NM_006397.3(RNASEH2A):c.851C>T (p.Ser284Phe) rs1474678539 0.00001
NM_006432.4(NPC2):c.-89G>A rs574247323 0.00001
NM_006432.5(NPC2):c.*115C>T rs780515697 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro) rs767080399 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile) rs1391222276 0.00001
NM_006432.5(NPC2):c.240C>T (p.Gly80=) rs773836291 0.00001
NM_006432.5(NPC2):c.364-3C>T rs927248655 0.00001
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu) rs2086648005 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys) rs753010998 0.00001
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr) rs549414130 0.00001
NM_006642.5(SDCCAG8):c.-106G>T rs886046328 0.00001
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys) rs771991355 0.00001
NM_006642.5(SDCCAG8):c.1069-8C>T rs752672598 0.00001
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys) rs780671703 0.00001
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln) rs553797432 0.00001
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser) rs756642876 0.00001
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn) rs377237088 0.00001
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr) rs1041307493 0.00001
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val) rs1298150302 0.00001
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val) rs752002252 0.00001
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val) rs1345199314 0.00001
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn) rs777728424 0.00001
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala) rs779777531 0.00001
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn) rs781182231 0.00001
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val) rs769796315 0.00001
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp) rs769286565 0.00001
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln) rs772853104 0.00001
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr) rs1015302300 0.00001
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His) rs1182496392 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr) rs190941099 0.00001
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly) rs1273880712 0.00001
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu) rs1573445816 0.00001
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe) rs1432354431 0.00001
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg) rs745351109 0.00001
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg) rs1388276184 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123 0.00001
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala) rs780281311 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg) rs760154232 0.00001
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His) rs138187640 0.00001
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser) rs752896885 0.00001
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg) rs746505992 0.00001
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu) rs1415587153 0.00001
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530 0.00001
NM_006642.5(SDCCAG8):c.1986-3C>T rs757455834 0.00001
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu) rs1242245359 0.00001
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val) rs778488043 0.00001
NM_006642.5(SDCCAG8):c.307-3T>C rs901028030 0.00001
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn) rs913322544 0.00001
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg) rs778785206 0.00001
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val) rs377473337 0.00001
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr) rs758051187 0.00001
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe) rs763172123 0.00001
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val) rs747774826 0.00001
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=) rs564399164 0.00001
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser) rs185077992 0.00001
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala) rs1003029505 0.00001
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr) rs753823148 0.00001
NM_006642.5(SDCCAG8):c.67+17C>G rs1311985140 0.00001
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser) rs747968552 0.00001
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr) rs1299404653 0.00001
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser) rs1357310997 0.00001
NM_006642.5(SDCCAG8):c.929+6T>C rs949556945 0.00001
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe) rs368258515 0.00001
NM_006721.4(ADK):c.*114T>C rs560409958 0.00001
NM_006721.4(ADK):c.*729T>G rs1307744498 0.00001
NM_006721.4(ADK):c.220A>G (p.Lys74Glu) rs201786575 0.00001
NM_006721.4(ADK):c.66-24009G>T rs886047234 0.00001
NM_006721.4(ADK):c.71A>T (p.Asn24Ile) rs1271395440 0.00001
NM_006721.4(ADK):c.763-9T>C rs780824505 0.00001
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=) rs748638654 0.00001
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp) rs747378005 0.00001
NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp) rs773179867 0.00001
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp) rs763649673 0.00001
NM_006736.6(DNAJB2):c.265G>A (p.Gly89Arg) rs1951909003 0.00001
NM_006736.6(DNAJB2):c.290G>A (p.Arg97His) rs545130842 0.00001
NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala) rs763591754 0.00001
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp) rs541289584 0.00001
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln) rs778575500 0.00001
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val) rs1340065979 0.00001
NM_006736.6(DNAJB2):c.469T>G (p.Phe157Val) rs755622620 0.00001
NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile) rs780605624 0.00001
NM_006736.6(DNAJB2):c.494G>A (p.Arg165His) rs769095774 0.00001
NM_006736.6(DNAJB2):c.530G>A (p.Arg177His) rs762985004 0.00001
NM_006736.6(DNAJB2):c.533G>A (p.Arg178His) rs202123709 0.00001
NM_006736.6(DNAJB2):c.559A>T (p.Asn187Tyr) rs1487966162 0.00001
NM_006736.6(DNAJB2):c.622G>A (p.Val208Ile) rs752078357 0.00001
NM_006736.6(DNAJB2):c.659G>A (p.Arg220His) rs769850234 0.00001
NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys) rs201861589 0.00001
NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys) rs750175376 0.00001
NM_006736.6(DNAJB2):c.742G>A (p.Asp248Asn) rs1442415535 0.00001
NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln) rs1018405924 0.00001
NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys) rs751785405 0.00001
NM_006765.4(TUSC3):c.308+3A>G rs778993933 0.00001
NM_006765.4(TUSC3):c.309-3C>G rs776386983 0.00001
NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly) rs778667759 0.00001
NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg) rs1454870259 0.00001
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile) rs772944760 0.00001
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=) rs750608792 0.00001
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr) rs746648914 0.00001
NM_006846.4(SPINK5):c.1278A>C (p.Gln426His) rs747446927 0.00001
NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248 0.00001
NM_006846.4(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136 0.00001
NM_006846.4(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733 0.00001
NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr) rs762735202 0.00001
NM_006846.4(SPINK5):c.1607+5G>A rs1212523917 0.00001
NM_006846.4(SPINK5):c.1675A>G (p.Lys559Glu) rs777594346 0.00001
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly) rs1326725036 0.00001
NM_006846.4(SPINK5):c.1820+53G>A rs754599628 0.00001
NM_006846.4(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827 0.00001
NM_006846.4(SPINK5):c.1844A>G (p.Glu615Gly) rs749375299 0.00001
NM_006846.4(SPINK5):c.1898A>G (p.Asp633Gly) rs757295553 0.00001
NM_006846.4(SPINK5):c.2078A>T (p.His693Leu) rs1033612713 0.00001
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys) rs761010013 0.00001
NM_006846.4(SPINK5):c.2134G>A (p.Glu712Lys) rs773035431 0.00001
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu) rs762624618 0.00001
NM_006846.4(SPINK5):c.2162G>A (p.Cys721Tyr) rs751402960 0.00001
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421 0.00001
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala) rs756155612 0.00001
NM_006846.4(SPINK5):c.2387G>A (p.Arg796Gln) rs779242910 0.00001
NM_006846.4(SPINK5):c.2390G>A (p.Gly797Asp) rs1170375768 0.00001
NM_006846.4(SPINK5):c.246T>A (p.His82Gln) rs1348041325 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.2564T>C (p.Met855Thr) rs765056653 0.00001
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr) rs1185407158 0.00001
NM_006846.4(SPINK5):c.2651T>C (p.Met884Thr) rs773543821 0.00001
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile) rs1431258015 0.00001
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln) rs771456490 0.00001
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn) rs775645249 0.00001
NM_006846.4(SPINK5):c.2722C>A (p.Pro908Thr) rs921979611 0.00001
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr) rs1212563023 0.00001
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu) rs368229591 0.00001
NM_006846.4(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706 0.00001
NM_006846.4(SPINK5):c.283C>T (p.Leu95=) rs1231707335 0.00001
NM_006846.4(SPINK5):c.2885A>G (p.Glu962Gly) rs772801284 0.00001
NM_006846.4(SPINK5):c.290G>A (p.Cys97Tyr) rs777435572 0.00001
NM_006846.4(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767 0.00001
NM_006846.4(SPINK5):c.2964+14T>G rs1017737800 0.00001
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=) rs571812048 0.00001
NM_006846.4(SPINK5):c.317A>T (p.Asp106Val) rs746365387 0.00001
NM_006846.4(SPINK5):c.3186+9A>G rs375728523 0.00001
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys) rs757745500 0.00001
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser) rs778100225 0.00001
NM_006846.4(SPINK5):c.494G>A (p.Arg165Gln) rs781071677 0.00001
NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly) rs772662655 0.00001
NM_006846.4(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014 0.00001
NM_006846.4(SPINK5):c.535A>G (p.Asn179Asp) rs1474696141 0.00001
NM_006846.4(SPINK5):c.56-3C>A rs755871798 0.00001
NM_006846.4(SPINK5):c.560G>A (p.Gly187Glu) rs1753254257 0.00001
NM_006846.4(SPINK5):c.56A>C (p.Asp19Ala) rs1204188199 0.00001
NM_006846.4(SPINK5):c.666+3A>G rs762435955 0.00001
NM_006846.4(SPINK5):c.730G>A (p.Asp244Asn) rs774534780 0.00001
NM_006846.4(SPINK5):c.745C>T (p.Pro249Ser) rs557324031 0.00001
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg) rs778915520 0.00001
NM_006846.4(SPINK5):c.81+3T>C rs745312199 0.00001
NM_006846.4(SPINK5):c.85A>G (p.Met29Val) rs946715933 0.00001
NM_006892.4(DNMT3B):c.*112C>A rs542048406 0.00001
NM_006892.4(DNMT3B):c.*70G>A rs886056618 0.00001
NM_006892.4(DNMT3B):c.*754G>A rs886056624 0.00001
NM_006892.4(DNMT3B):c.-224C>A rs886056611 0.00001
NM_006892.4(DNMT3B):c.1094C>T (p.Ala365Val) rs763959693 0.00001
NM_006892.4(DNMT3B):c.1136C>T (p.Thr379Ile) rs1361035589 0.00001
NM_006892.4(DNMT3B):c.1183G>A (p.Ala395Thr) rs753291521 0.00001
NM_006892.4(DNMT3B):c.1327C>G (p.Pro443Ala) rs752929250 0.00001
NM_006892.4(DNMT3B):c.1328C>T (p.Pro443Leu) rs530689863 0.00001
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=) rs138805251 0.00001
NM_006892.4(DNMT3B):c.1376G>A (p.Arg459Gln) rs771769549 0.00001
NM_006892.4(DNMT3B):c.1406A>G (p.Tyr469Cys) rs1456216460 0.00001
NM_006892.4(DNMT3B):c.142+3G>A rs779770844 0.00001
NM_006892.4(DNMT3B):c.1478C>T (p.Thr493Met) rs755018555 0.00001
NM_006892.4(DNMT3B):c.1489C>T (p.Arg497Trp) rs757998715 0.00001
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_006892.4(DNMT3B):c.1634G>A (p.Arg545His) rs572676072 0.00001
NM_006892.4(DNMT3B):c.1661C>T (p.Thr554Met) rs577581342 0.00001
NM_006892.4(DNMT3B):c.1834G>T (p.Ala612Ser) rs762537914 0.00001
NM_006892.4(DNMT3B):c.1837G>C (p.Val613Leu) rs768347895 0.00001
NM_006892.4(DNMT3B):c.2044T>G (p.Ser682Ala) rs1186097689 0.00001
NM_006892.4(DNMT3B):c.2047C>T (p.Arg683Cys) rs377397627 0.00001
NM_006892.4(DNMT3B):c.2057A>G (p.Glu686Gly) rs1981317235 0.00001
NM_006892.4(DNMT3B):c.2058G>C (p.Glu686Asp) rs773365247 0.00001
NM_006892.4(DNMT3B):c.2072C>T (p.Pro691Leu) rs889145646 0.00001
NM_006892.4(DNMT3B):c.2116G>A (p.Asp706Asn) rs996239307 0.00001
NM_006892.4(DNMT3B):c.2164G>A (p.Asp722Asn) rs1056119394 0.00001
NM_006892.4(DNMT3B):c.2231+5C>T rs376502234 0.00001
NM_006892.4(DNMT3B):c.2232-3C>T rs1217720028 0.00001
NM_006892.4(DNMT3B):c.2263G>A (p.Glu755Lys) rs764716011 0.00001
NM_006892.4(DNMT3B):c.2293A>G (p.Ile765Val) rs756320752 0.00001
NM_006892.4(DNMT3B):c.2358C>A (p.Asn786Lys) rs868828837 0.00001
NM_006892.4(DNMT3B):c.2361A>C (p.Gln787His) rs369258965 0.00001
NM_006892.4(DNMT3B):c.242G>C (p.Gly81Ala) rs748547514 0.00001
NM_006892.4(DNMT3B):c.2447C>T (p.Thr816Ile) rs765258381 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006892.4(DNMT3B):c.2506G>A (p.Val836Met) rs866792483 0.00001
NM_006892.4(DNMT3B):c.275G>A (p.Arg92Gln) rs201395541 0.00001
NM_006892.4(DNMT3B):c.311G>A (p.Arg104Gln) rs551752168 0.00001
NM_006892.4(DNMT3B):c.320A>G (p.Asn107Ser) rs532377032 0.00001
NM_006892.4(DNMT3B):c.331G>A (p.Val111Ile) rs534208434 0.00001
NM_006892.4(DNMT3B):c.341G>A (p.Arg114Gln) rs546278202 0.00001
NM_006892.4(DNMT3B):c.352A>G (p.Arg118Gly) rs773011198 0.00001
NM_006892.4(DNMT3B):c.364C>T (p.Arg122Cys) rs768468807 0.00001
NM_006892.4(DNMT3B):c.379C>T (p.Arg127Trp) rs538400808 0.00001
NM_006892.4(DNMT3B):c.403G>A (p.Glu135Lys) rs774911505 0.00001
NM_006892.4(DNMT3B):c.43G>A (p.Gly15Ser) rs375171362 0.00001
NM_006892.4(DNMT3B):c.445C>T (p.Arg149Trp) rs200405601 0.00001
NM_006892.4(DNMT3B):c.488G>A (p.Ser163Asn) rs577793089 0.00001
NM_006892.4(DNMT3B):c.724A>C (p.Met242Leu) rs199883886 0.00001
NM_006892.4(DNMT3B):c.763A>G (p.Met255Val) rs996321864 0.00001
NM_006892.4(DNMT3B):c.776G>A (p.Arg259Gln) rs772383693 0.00001
NM_006892.4(DNMT3B):c.814-3T>C rs746999702 0.00001
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=) rs201067137 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr) rs752677090 0.00001
NM_006946.4(SPTBN2):c.6374+15G>A rs777633339 0.00001
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00001
NM_006946.4(SPTBN2):c.657-7C>G rs758925003 0.00001
NM_006946.4(SPTBN2):c.6723-11G>A rs758435668 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6897-4A>G rs1262014282 0.00001
NM_006996.3(SLC19A2):c.*1927C>T rs1657926116 0.00001
NM_006996.3(SLC19A2):c.*627C>T rs886045527 0.00001
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) rs772129644 0.00001
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) rs756487822 0.00001
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) rs747484241 0.00001
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) rs1490832268 0.00001
NM_006996.3(SLC19A2):c.807+6C>G rs201700843 0.00001
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) rs1351692845 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter) rs782504130 0.00001
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys) rs1656346466 0.00001
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) rs782104716 0.00001
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly) rs782194772 0.00001
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg) rs917642055 0.00001
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile) rs1323351672 0.00001
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599 0.00001
NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr) rs782327338 0.00001
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg) rs1348750495 0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=) rs782546296 0.00001
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) rs782513242 0.00001
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274 0.00001
NM_007259.5(VPS45):c.353T>G (p.Val118Gly) rs1298740891 0.00001
NM_007259.5(VPS45):c.457G>A (p.Ala153Thr) rs781964646 0.00001
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala) rs1553798269 0.00001
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala) rs142551106 0.00001
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) rs200134576 0.00001
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys) rs782677308 0.00001
NM_007259.5(VPS45):c.580G>A (p.Val194Met) rs587713385 0.00001
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser) rs368347807 0.00001
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) rs908608470 0.00001
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) rs782495021 0.00001
NM_007259.5(VPS45):c.64A>G (p.Met22Val) rs782253570 0.00001
NM_007259.5(VPS45):c.652C>T (p.Arg218Cys) rs1571825459 0.00001
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374 0.00001
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser) rs782164464 0.00001
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) rs782739886 0.00001
NM_007259.5(VPS45):c.93G>A (p.Thr31=) rs1387315578 0.00001
NM_012188.5(FOXI1):c.*248G>A rs1758583401 0.00001
NM_012188.5(FOXI1):c.*397A>T rs886060401 0.00001
NM_012188.5(FOXI1):c.*486C>T rs886060403 0.00001
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly) rs1417785705 0.00001
NM_012188.5(FOXI1):c.63C>T (p.Ile21=) rs768858662 0.00001
NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) rs951259617 0.00001
NM_012210.4(TRIM32):c.*112G>A rs886063380 0.00001
NM_012210.4(TRIM32):c.*283G>T rs886063381 0.00001
NM_012210.4(TRIM32):c.*676G>T rs541032542 0.00001
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn) rs778321975 0.00001
NM_012210.4(TRIM32):c.1039G>C (p.Glu347Gln) rs1564217118 0.00001
NM_012210.4(TRIM32):c.1042G>T (p.Ala348Ser) rs771427815 0.00001
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg) rs1266244841 0.00001
NM_012210.4(TRIM32):c.1081A>T (p.Met361Leu) rs1262205918 0.00001
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser) rs781488306 0.00001
NM_012210.4(TRIM32):c.1124T>G (p.Val375Gly) rs886044107 0.00001
NM_012210.4(TRIM32):c.1142G>A (p.Ser381Asn) rs1432191841 0.00001
NM_012210.4(TRIM32):c.1153G>A (p.Val385Ile) rs1564217317 0.00001
NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr) rs886042328 0.00001
NM_012210.4(TRIM32):c.1196C>T (p.Thr399Ile) rs1182257457 0.00001
NM_012210.4(TRIM32):c.119G>C (p.Gly40Ala) rs1159231558 0.00001
NM_012210.4(TRIM32):c.1225C>T (p.Arg409Cys) rs765158423 0.00001
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val) rs746383181 0.00001
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val) rs987882732 0.00001
NM_012210.4(TRIM32):c.134G>A (p.Arg45His) rs143760041 0.00001
NM_012210.4(TRIM32):c.1369T>G (p.Leu457Val) rs1275345258 0.00001
NM_012210.4(TRIM32):c.136C>G (p.Gln46Glu) rs1193048642 0.00001
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=) rs200244154 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.1432T>G (p.Leu478Val) rs371002754 0.00001
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu) rs371233848 0.00001
NM_012210.4(TRIM32):c.1540G>A (p.Val514Met) rs755369647 0.00001
NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp) rs147803099 0.00001
NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln) rs761503419 0.00001
NM_012210.4(TRIM32):c.1642G>A (p.Gly548Ser) rs946701093 0.00001
NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu) rs746590049 0.00001
NM_012210.4(TRIM32):c.1727G>A (p.Arg576His) rs769518349 0.00001
NM_012210.4(TRIM32):c.176T>C (p.Val59Ala) rs1261435168 0.00001
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.1853G>C (p.Cys618Ser) rs777285202 0.00001
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser) rs368240408 0.00001
NM_012210.4(TRIM32):c.1860G>A (p.Val620=) rs772336687 0.00001
NM_012210.4(TRIM32):c.1876C>T (p.Pro626Ser) rs769128859 0.00001
NM_012210.4(TRIM32):c.1882G>A (p.Gly628Arg) rs1360716233 0.00001
NM_012210.4(TRIM32):c.1931G>T (p.Ser644Ile) rs765555919 0.00001
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala) rs763172140 0.00001
NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser) rs899549661 0.00001
NM_012210.4(TRIM32):c.1959A>G (p.Pro653=) rs1446030395 0.00001
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser) rs775738712 0.00001
NM_012210.4(TRIM32):c.274A>G (p.Ser92Gly) rs1860959982 0.00001
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys) rs754449534 0.00001
NM_012210.4(TRIM32):c.284T>C (p.Val95Ala) rs780885702 0.00001
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp) rs776796546 0.00001
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro) rs767818381 0.00001
NM_012210.4(TRIM32):c.371G>A (p.Arg124Gln) rs750797541 0.00001
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val) rs755478136 0.00001
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys) rs760202414 0.00001
NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp) rs1202455552 0.00001
NM_012210.4(TRIM32):c.44G>A (p.Arg15Gln) rs1341334730 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp) rs1378775801 0.00001
NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln) rs757287996 0.00001
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys) rs568433214 0.00001
NM_012210.4(TRIM32):c.625T>C (p.Ser209Pro) rs370534929 0.00001
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser) rs374248541 0.00001
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val) rs139113969 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012210.4(TRIM32):c.781G>A (p.Glu261Lys) rs781333763 0.00001
NM_012210.4(TRIM32):c.809C>G (p.Pro270Arg) rs1861004120 0.00001
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu) rs759742371 0.00001
NM_012210.4(TRIM32):c.899C>T (p.Thr300Ile) rs1010496243 0.00001
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) rs794727284 0.00001
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys) rs778141507 0.00001
NM_012233.3(RAB3GAP1):c.*1056G>A rs946863592 0.00001
NM_012233.3(RAB3GAP1):c.*1272T>C rs1452526339 0.00001
NM_012233.3(RAB3GAP1):c.*1511G>A rs575731807 0.00001
NM_012233.3(RAB3GAP1):c.*1543T>C rs1221954343 0.00001
NM_012233.3(RAB3GAP1):c.*283C>T rs765003230 0.00001
NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr) rs886054852 0.00001
NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp) rs771433559 0.00001
NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg) rs772002275 0.00001
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln) rs752599043 0.00001
NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn) rs1287391427 0.00001
NM_012414.4(RAB3GAP2):c.*1145del rs886046014 0.00001
NM_012414.4(RAB3GAP2):c.*2769G>T rs886046006 0.00001
NM_012414.4(RAB3GAP2):c.*436A>G rs1027206904 0.00001
NM_012414.4(RAB3GAP2):c.*537G>C rs886046015 0.00001
NM_012414.4(RAB3GAP2):c.-20T>C rs926169525 0.00001
NM_012414.4(RAB3GAP2):c.-48A>G rs767297724 0.00001
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) rs779972563 0.00001
NM_012414.4(RAB3GAP2):c.1097C>T (p.Pro366Leu) rs988513386 0.00001
NM_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys) rs755157552 0.00001
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) rs763764406 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) rs747104956 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681 0.00001
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075 0.00001
NM_012414.4(RAB3GAP2):c.2051C>A (p.Ala684Glu) rs746414664 0.00001
NM_012414.4(RAB3GAP2):c.2117G>A (p.Gly706Asp) rs775609069 0.00001
NM_012414.4(RAB3GAP2):c.2264T>G (p.Met755Arg) rs1232753900 0.00001
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) rs746962559 0.00001
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) rs753147106 0.00001
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) rs368216093 0.00001
NM_012414.4(RAB3GAP2):c.267G>A (p.Met89Ile) rs376681173 0.00001
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254 0.00001
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn) rs763047721 0.00001
NM_012414.4(RAB3GAP2):c.309A>C (p.Lys103Asn) rs1425618506 0.00001
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426 0.00001
NM_012414.4(RAB3GAP2):c.3526G>A (p.Val1176Met) rs754940777 0.00001
NM_012414.4(RAB3GAP2):c.3673G>A (p.Val1225Ile) rs148340670 0.00001
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) rs564016323 0.00001
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) rs1378967581 0.00001
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) rs747224775 0.00001
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334 0.00001
NM_012414.4(RAB3GAP2):c.3818A>G (p.His1273Arg) rs370057302 0.00001
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) rs886046024 0.00001
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 0.00001
NM_012414.4(RAB3GAP2):c.612+15T>C rs777576498 0.00001
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) rs189134236 0.00001
NM_012448.4(STAT5B):c.1001T>C (p.Ile334Thr) rs754879860 0.00001
NM_012448.4(STAT5B):c.1072G>A (p.Gly358Arg) rs745315653 0.00001
NM_012448.4(STAT5B):c.1084G>A (p.Val362Met) rs750053820 0.00001
NM_012448.4(STAT5B):c.1133A>T (p.Gln378Leu) rs1437950343 0.00001
NM_012448.4(STAT5B):c.1166G>A (p.Arg389His) rs2080189238 0.00001
NM_012448.4(STAT5B):c.1403T>C (p.Val468Ala) rs201911697 0.00001
NM_012448.4(STAT5B):c.178C>T (p.Leu60Phe) rs1187306164 0.00001
NM_012448.4(STAT5B):c.197A>G (p.Gln66Arg) rs750520285 0.00001
NM_012448.4(STAT5B):c.2005G>A (p.Val669Met) rs1339796170 0.00001
NM_012448.4(STAT5B):c.2018G>A (p.Arg673Gln) rs776285574 0.00001
NM_012448.4(STAT5B):c.2065G>A (p.Glu689Lys) rs778995803 0.00001
NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn) rs1238042644 0.00001
NM_012448.4(STAT5B):c.2293G>A (p.Val765Ile) rs780699949 0.00001
NM_012448.4(STAT5B):c.2303G>A (p.Arg768His) rs763716770 0.00001
NM_012448.4(STAT5B):c.2324G>A (p.Arg775Gln) rs138115420 0.00001
NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) rs752309096 0.00001
NM_012448.4(STAT5B):c.319C>T (p.Arg107Cys) rs1177773526 0.00001
NM_012448.4(STAT5B):c.435C>G (p.Asn145Lys) rs778582220 0.00001
NM_012448.4(STAT5B):c.440C>T (p.Thr147Met) rs768919211 0.00001
NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) rs1031852875 0.00001
NM_012448.4(STAT5B):c.560G>C (p.Gly187Ala) rs746169589 0.00001
NM_012448.4(STAT5B):c.563C>T (p.Pro188Leu) rs143092033 0.00001
NM_012448.4(STAT5B):c.599G>A (p.Arg200Gln) rs779220548 0.00001
NM_012448.4(STAT5B):c.638C>G (p.Ala213Gly) rs762397922 0.00001
NM_012448.4(STAT5B):c.650G>A (p.Arg217His) rs200900246 0.00001
NM_012448.4(STAT5B):c.676C>T (p.Arg226Cys) rs777110652 0.00001
NM_012448.4(STAT5B):c.679G>A (p.Val227Met) rs761283639 0.00001
NM_012448.4(STAT5B):c.721C>T (p.Arg241Trp) rs1418454797 0.00001
NM_012448.4(STAT5B):c.773G>A (p.Arg258Gln) rs1314726288 0.00001
NM_012448.4(STAT5B):c.799C>T (p.Pro267Ser) rs760893128 0.00001
NM_012463.4(ATP6V0A2):c.*2039C>G rs886049069 0.00001
NM_012463.4(ATP6V0A2):c.*3262G>A rs1593929112 0.00001
NM_012463.4(ATP6V0A2):c.*3684C>T rs1051636200 0.00001
NM_012463.4(ATP6V0A2):c.*3707A>G rs1203316393 0.00001
NM_012463.4(ATP6V0A2):c.*434T>A rs886049065 0.00001
NM_012463.4(ATP6V0A2):c.*706T>G rs1288578795 0.00001
NM_012463.4(ATP6V0A2):c.-114G>A rs1264181324 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) rs757775762 0.00001
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) rs148307049 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2176-5C>G rs201910056 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) rs775425809 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_013322.3(SNX10):c.284G>A (p.Arg95His) rs897553060 0.00001
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val) rs750437487 0.00001
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn) rs1382726525 0.00001
NM_013382.7(POMT2):c.*1285T>C rs886050815 0.00001
NM_013382.7(POMT2):c.*1579C>A rs780717261 0.00001
NM_013382.7(POMT2):c.*2381A>G rs993351501 0.00001
NM_013382.7(POMT2):c.*316C>G rs1460121683 0.00001
NM_013382.7(POMT2):c.*597C>T rs886050820 0.00001
NM_013382.7(POMT2):c.101C>T (p.Ala34Val) rs768585252 0.00001
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) rs1158227625 0.00001
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) rs751206357 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu) rs912884835 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) rs200976246 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1497G>C (p.Gln499His) rs141248257 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly) rs1340953706 0.00001
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) rs1890178559 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) rs1566644163 0.00001
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) rs1171196217 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) rs769782374 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe) rs200079313 0.00001
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965 0.00001
NM_013382.7(POMT2):c.209C>T (p.Ala70Val) rs1891834567 0.00001
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) rs763325075 0.00001
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala) rs770189006 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val) rs1352547589 0.00001
NM_013382.7(POMT2):c.2147+5G>C rs1360206873 0.00001
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) rs1413994990 0.00001
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.224G>A (p.Arg75His) rs1200964688 0.00001
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser) rs1349494437 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) rs563863191 0.00001
NM_013382.7(POMT2):c.25C>G (p.Leu9Val) rs1280735533 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.37G>A (p.Glu13Lys) rs747244194 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile) rs753521608 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006 0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) rs771995900 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.756A>G (p.Gln252=) rs766529891 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr) rs770147545 0.00001
NM_014026.6(DCPS):c.201+4C>G rs746334180 0.00001
NM_014028.4(OSTM1):c.*1023A>G rs886060967 0.00001
NM_014028.4(OSTM1):c.*1045T>C rs1175025828 0.00001
NM_014028.4(OSTM1):c.*1399T>A rs886060966 0.00001
NM_014028.4(OSTM1):c.*1455C>T rs528241865 0.00001
NM_014028.4(OSTM1):c.*1469G>A rs886060965 0.00001
NM_014028.4(OSTM1):c.*872T>C rs748365107 0.00001
NM_014042.3(ANAPC15):c.180+11C>G rs769123440 0.00001
NM_014042.3(ANAPC15):c.256A>T (p.Met86Leu) rs1469899576 0.00001
NM_014053.4(FLVCR1):c.*123T>C rs1355815695 0.00001
NM_014053.4(FLVCR1):c.*1738G>A rs541110364 0.00001
NM_014053.4(FLVCR1):c.*2188C>T rs552491316 0.00001
NM_014053.4(FLVCR1):c.*2954T>C rs930665650 0.00001
NM_014053.4(FLVCR1):c.*3228T>C rs886045943 0.00001
NM_014053.4(FLVCR1):c.*344T>C rs886045930 0.00001
NM_014053.4(FLVCR1):c.*665C>T rs1226910181 0.00001
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) rs754655924 0.00001
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) rs1391075754 0.00001
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) rs74607124 0.00001
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=) rs1251133617 0.00001
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly) rs781057835 0.00001
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser) rs746296931 0.00001
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=) rs886045928 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_014264.5(PLK4):c.160G>A (p.Val54Ile) rs771069245 0.00001
NM_014264.5(PLK4):c.1935+4A>T rs758425287 0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys) rs773200383 0.00001
NM_014321.4(ORC6):c.*517G>A rs771044771 0.00001
NM_014321.4(ORC6):c.*621T>C rs758041096 0.00001
NM_014321.4(ORC6):c.*807G>A rs753486103 0.00001
NM_014321.4(ORC6):c.27A>G (p.Leu9=) rs758376049 0.00001
NM_014321.4(ORC6):c.32C>G (p.Pro11Arg) rs757562073 0.00001
NM_014321.4(ORC6):c.552G>A (p.Gln184=) rs74999515 0.00001
NM_014321.4(ORC6):c.592C>T (p.Arg198Trp) rs376209987 0.00001
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln) rs751881283 0.00001
NM_014363.6(SACS):c.*307A>G rs576860445 0.00001
NM_014363.6(SACS):c.*461G>A rs1003496096 0.00001
NM_014363.6(SACS):c.*711A>G rs368233436 0.00001
NM_014363.6(SACS):c.-470C>T rs748973703 0.00001
NM_014363.6(SACS):c.-489G>A rs886050091 0.00001
NM_014363.6(SACS):c.-70G>A rs575970347 0.00001
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr) rs1388546547 0.00001
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190 0.00001
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078 0.00001
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val) rs372494676 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) rs748237614 0.00001
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) rs1883567634 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075 0.00001
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) rs766487632 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) rs778310483 0.00001
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) rs764098635 0.00001
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys) rs1490155590 0.00001
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) rs767622491 0.00001
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271 0.00001
NM_014363.6(SACS):c.12816C>T (p.Gly4272=) rs142643824 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13281T>A (p.Thr4427=) rs1360709632 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.13476G>C (p.Val4492=) rs370362235 0.00001
NM_014363.6(SACS):c.13506A>G (p.Pro4502=) rs1593119067 0.00001
NM_014363.6(SACS):c.13509T>G (p.Thr4503=) rs745361567 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929 0.00001
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) rs767844042 0.00001
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744 0.00001
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) rs571646732 0.00001
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) rs142037771 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) rs377493083 0.00001
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile) rs771915442 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) rs756303420 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 0.00001
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) rs1330036755 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.482A>G (p.Asn161Ser) rs746069731 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4846A>C (p.Asn1616His) rs979327782 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu) rs1035497308 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805 0.00001
NM_014363.6(SACS):c.561C>T (p.Val187=) rs758653462 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602 0.00001
NM_014363.6(SACS):c.598A>G (p.Ile200Val) rs762268076 0.00001
NM_014363.6(SACS):c.6096G>A (p.Ser2032=) rs756027210 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933 0.00001
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134 0.00001
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960 0.00001
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313 0.00001
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774 0.00001
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr) rs767864000 0.00001
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) rs1288769278 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser) rs1191066514 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys) rs772072343 0.00001
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) rs745462710 0.00001
NM_014363.6(SACS):c.8281G>A (p.Val2761Met) rs372119773 0.00001
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639 0.00001
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181 0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353 0.00001
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783 0.00001
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599 0.00001
NM_014363.6(SACS):c.8900G>A (p.Arg2967His) rs777753707 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) rs755698899 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_014363.6(SACS):c.9492A>C (p.Gln3164His) rs1025915131 0.00001
NM_014363.6(SACS):c.9661G>A (p.Val3221Met) rs142867964 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501 0.00001
NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg) rs760062265 0.00001
NM_014425.5(INVS):c.*45G>A rs1481874573 0.00001
NM_014425.5(INVS):c.-176C>T rs1241040246 0.00001
NM_014425.5(INVS):c.1016G>A (p.Arg339Lys) rs768193321 0.00001
NM_014425.5(INVS):c.1048A>G (p.Ile350Val) rs767638762 0.00001
NM_014425.5(INVS):c.1056G>C (p.Met352Ile) rs752714293 0.00001
NM_014425.5(INVS):c.10T>G (p.Ser4Ala) rs1827109569 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1256T>C (p.Val419Ala) rs1212072950 0.00001
NM_014425.5(INVS):c.1317C>T (p.Cys439=) rs886063266 0.00001
NM_014425.5(INVS):c.1361A>C (p.Tyr454Ser) rs756863097 0.00001
NM_014425.5(INVS):c.1379T>G (p.Leu460Trp) rs878854980 0.00001
NM_014425.5(INVS):c.1387G>A (p.Ala463Thr) rs770018625 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.154C>T (p.Leu52Phe) rs758283111 0.00001
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) rs1446860684 0.00001
NM_014425.5(INVS):c.1606C>T (p.Arg536Cys) rs1228736160 0.00001
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln) rs1832999935 0.00001
NM_014425.5(INVS):c.1686C>G (p.Ile562Met) rs767346175 0.00001
NM_014425.5(INVS):c.1790G>T (p.Arg597Leu) rs1291135236 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.1978G>A (p.Gly660Arg) rs1833374932 0.00001
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg) rs750909979 0.00001
NM_014425.5(INVS):c.2035G>T (p.Asp679Tyr) rs751056550 0.00001
NM_014425.5(INVS):c.2062C>T (p.Pro688Ser) rs769487492 0.00001
NM_014425.5(INVS):c.2108T>C (p.Val703Ala) rs1285423022 0.00001
NM_014425.5(INVS):c.2156T>C (p.Val719Ala) rs1379171622 0.00001
NM_014425.5(INVS):c.2189C>T (p.Ala730Val) rs763766362 0.00001
NM_014425.5(INVS):c.2210A>G (p.Lys737Arg) rs1008214234 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2260G>A (p.Asp754Asn) rs115401137 0.00001
NM_014425.5(INVS):c.2284C>T (p.Arg762Trp) rs763460118 0.00001
NM_014425.5(INVS):c.2336G>A (p.Arg779Gln) rs771128055 0.00001
NM_014425.5(INVS):c.2380C>T (p.Arg794Cys) rs556807161 0.00001
NM_014425.5(INVS):c.2381G>A (p.Arg794His) rs766040970 0.00001
NM_014425.5(INVS):c.2417C>T (p.Ala806Val) rs201824415 0.00001
NM_014425.5(INVS):c.2428C>T (p.Arg810Cys) rs984016152 0.00001
NM_014425.5(INVS):c.2468A>G (p.Gln823Arg) rs752586599 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.2519T>C (p.Leu840Pro) rs772783995 0.00001
NM_014425.5(INVS):c.2539C>T (p.His847Tyr) rs1041470924 0.00001
NM_014425.5(INVS):c.2570C>T (p.Ser857Leu) rs775418651 0.00001
NM_014425.5(INVS):c.2603C>T (p.Ser868Phe) rs1300344847 0.00001
NM_014425.5(INVS):c.2714G>A (p.Arg905Lys) rs753100317 0.00001
NM_014425.5(INVS):c.2783G>A (p.Arg928Gln) rs376463532 0.00001
NM_014425.5(INVS):c.283C>T (p.Arg95Cys) rs1189239222 0.00001
NM_014425.5(INVS):c.2851G>A (p.Asp951Asn) rs1833809920 0.00001
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu) rs996350769 0.00001
NM_014425.5(INVS):c.3016+5C>T rs142606077 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3068C>T (p.Ser1023Phe) rs769993446 0.00001
NM_014425.5(INVS):c.3071C>T (p.Ser1024Phe) rs778164167 0.00001
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe) rs969660773 0.00001
NM_014425.5(INVS):c.3184A>G (p.Lys1062Glu) rs750609488 0.00001
NM_014425.5(INVS):c.319T>G (p.Trp107Gly) rs1831309953 0.00001
NM_014425.5(INVS):c.349C>G (p.Pro117Ala) rs1021818693 0.00001
NM_014425.5(INVS):c.368G>A (p.Arg123Gln) rs757534991 0.00001
NM_014425.5(INVS):c.433C>A (p.Gln145Lys) rs745703727 0.00001
NM_014425.5(INVS):c.500T>C (p.Leu167Pro) rs374420212 0.00001
NM_014425.5(INVS):c.501G>A (p.Leu167=) rs767884283 0.00001
NM_014425.5(INVS):c.520A>C (p.Asn174His) rs370730139 0.00001
NM_014425.5(INVS):c.538G>A (p.Val180Ile) rs1206727122 0.00001
NM_014425.5(INVS):c.572A>G (p.Asn191Ser) rs1831448800 0.00001
NM_014425.5(INVS):c.590C>G (p.Ala197Gly) rs774469922 0.00001
NM_014425.5(INVS):c.625C>T (p.Pro209Ser) rs144729900 0.00001
NM_014425.5(INVS):c.646T>G (p.Trp216Gly) rs1446856893 0.00001
NM_014425.5(INVS):c.658G>A (p.Glu220Lys) rs759684253 0.00001
NM_014425.5(INVS):c.727T>C (p.Tyr243His) rs1206942379 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_014425.5(INVS):c.833A>G (p.Asn278Ser) rs1831914143 0.00001
NM_014425.5(INVS):c.889G>A (p.Ala297Thr) rs116475199 0.00001
NM_014425.5(INVS):c.890C>T (p.Ala297Val) rs759327541 0.00001
NM_014425.5(INVS):c.938C>T (p.Ser313Leu) rs756222867 0.00001
NM_014425.5(INVS):c.962A>G (p.Glu321Gly) rs749655348 0.00001
NM_014425.5(INVS):c.978T>G (p.Phe326Leu) rs1457973181 0.00001
NM_014425.5(INVS):c.986C>T (p.Ala329Val) rs1202806202 0.00001
NM_014425.5(INVS):c.997G>T (p.Gly333Cys) rs746333759 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_014780.5(CUL7):c.1165T>C (p.Tyr389His) rs201953649 0.00001
NM_014780.5(CUL7):c.1215C>T (p.Asn405=) rs755095253 0.00001
NM_014780.5(CUL7):c.1265G>T (p.Trp422Leu) rs886061420 0.00001
NM_014780.5(CUL7):c.161G>T (p.Gly54Val) rs886061422 0.00001
NM_014780.5(CUL7):c.1753G>A (p.Ala585Thr) rs770077329 0.00001
NM_014780.5(CUL7):c.2287C>A (p.Leu763Met) rs776878896 0.00001
NM_014780.5(CUL7):c.249C>T (p.Gly83=) rs764168236 0.00001
NM_014780.5(CUL7):c.2720T>C (p.Val907Ala) rs886061417 0.00001
NM_014780.5(CUL7):c.3184A>G (p.Ile1062Val) rs748818384 0.00001
NM_014780.5(CUL7):c.384T>C (p.Cys128=) rs886061421 0.00001
NM_014780.5(CUL7):c.4035G>A (p.Gly1345=) rs758986941 0.00001
NM_014780.5(CUL7):c.4069G>A (p.Glu1357Lys) rs78682787 0.00001
NM_014780.5(CUL7):c.4131T>C (p.Asn1377=) rs767470504 0.00001
NM_014780.5(CUL7):c.4440+13C>T rs144245050 0.00001
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) rs369045809 0.00001
NM_014780.5(CUL7):c.4605G>A (p.Arg1535=) rs1363062305 0.00001
NM_014780.5(CUL7):c.4690C>T (p.Arg1564Trp) rs761970375 0.00001
NM_014780.5(CUL7):c.580+48C>T rs377606153 0.00001
NM_014780.5(CUL7):c.841G>A (p.Ala281Thr) rs374438135 0.00001
NM_014797.3(ZBTB24):c.1043G>A (p.Arg348Gln) rs764052384 0.00001
NM_014797.3(ZBTB24):c.1046C>T (p.Pro349Leu) rs377688410 0.00001
NM_014797.3(ZBTB24):c.1060G>A (p.Val354Met) rs145832483 0.00001
NM_014797.3(ZBTB24):c.1145A>G (p.Gln382Arg) rs1232884369 0.00001
NM_014797.3(ZBTB24):c.1217C>T (p.Pro406Leu) rs752335042 0.00001
NM_014797.3(ZBTB24):c.1280C>A (p.Thr427Lys) rs1776258723 0.00001
NM_014797.3(ZBTB24):c.1322A>G (p.Lys441Arg) rs373035965 0.00001
NM_014797.3(ZBTB24):c.1394G>A (p.Gly465Asp) rs1366402467 0.00001
NM_014797.3(ZBTB24):c.1468T>C (p.Phe490Leu) rs756875652 0.00001
NM_014797.3(ZBTB24):c.1501C>T (p.Arg501Cys) rs761036277 0.00001
NM_014797.3(ZBTB24):c.1597G>C (p.Val533Leu) rs779741867 0.00001
NM_014797.3(ZBTB24):c.1748A>G (p.Asn583Ser) rs1236709691 0.00001
NM_014797.3(ZBTB24):c.1787C>T (p.Thr596Met) rs765207865 0.00001
NM_014797.3(ZBTB24):c.1891C>G (p.Gln631Glu) rs1213062476 0.00001
NM_014797.3(ZBTB24):c.1969G>A (p.Glu657Lys) rs1222795316 0.00001
NM_014797.3(ZBTB24):c.2036C>T (p.Pro679Leu) rs776310741 0.00001
NM_014797.3(ZBTB24):c.2069C>T (p.Thr690Met) rs201765821 0.00001
NM_014797.3(ZBTB24):c.397A>C (p.Ser133Arg) rs1315070775 0.00001
NM_014797.3(ZBTB24):c.401C>A (p.Ser134Tyr) rs756413090 0.00001
NM_014797.3(ZBTB24):c.430G>C (p.Gly144Arg) rs755263893 0.00001
NM_014797.3(ZBTB24):c.439G>T (p.Val147Leu) rs766594494 0.00001
NM_014797.3(ZBTB24):c.569A>G (p.Asn190Ser) rs542752221 0.00001
NM_014797.3(ZBTB24):c.620T>C (p.Leu207Pro) rs762302021 0.00001
NM_014797.3(ZBTB24):c.733G>T (p.Asp245Tyr) rs762687481 0.00001
NM_014797.3(ZBTB24):c.767G>A (p.Arg256Gln) rs1023323966 0.00001
NM_014797.3(ZBTB24):c.784G>A (p.Val262Ile) rs540553715 0.00001
NM_014797.3(ZBTB24):c.796G>A (p.Asp266Asn) rs45455100 0.00001
NM_014797.3(ZBTB24):c.871G>A (p.Gly291Ser) rs779905380 0.00001
NM_014797.3(ZBTB24):c.994G>T (p.Ala332Ser) rs1358583858 0.00001
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu) rs763555777 0.00001
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp) rs201335495 0.00001
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys) rs1486315197 0.00001
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala) rs145303576 0.00001
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln) rs1041188721 0.00001
NM_014806.5(RUSC2):c.853A>G (p.Ser285Gly) rs1444513149 0.00001
NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser) rs145893978 0.00001
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg) rs1660302910 0.00001
NM_014875.3(KIF14):c.595A>G (p.Thr199Ala) rs765579360 0.00001
NM_014918.5(CHSY1):c.1109G>A (p.Arg370Gln) rs769801559 0.00001
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) rs773396835 0.00001
NM_014918.5(CHSY1):c.1468G>T (p.Ala490Ser) rs756263767 0.00001
NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu) rs1274574182 0.00001
NM_014918.5(CHSY1):c.793G>A (p.Val265Met) rs372381623 0.00001
NM_014918.5(CHSY1):c.965G>A (p.Arg322His) rs140855609 0.00001
NM_014918.5(CHSY1):c.966C>T (p.Arg322=) rs911382649 0.00001
NM_014918.5(CHSY1):c.989G>A (p.Arg330His) rs749508854 0.00001
NM_014956.5(CEP164):c.112A>G (p.Ile38Val) rs978689124 0.00001
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr) rs780364658 0.00001
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp) rs1347609515 0.00001
NM_014956.5(CEP164):c.1226A>G (p.His409Arg) rs747489061 0.00001
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp) rs575328059 0.00001
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu) rs1324951273 0.00001
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr) rs749869599 0.00001
NM_014956.5(CEP164):c.1409+6A>G rs762497915 0.00001
NM_014956.5(CEP164):c.1410-11G>A rs537713728 0.00001
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln) rs573209223 0.00001
NM_014956.5(CEP164):c.1457G>A (p.Arg486His) rs545471229 0.00001
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr) rs765811586 0.00001
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala) rs541149150 0.00001
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser) rs758286092 0.00001
NM_014956.5(CEP164):c.1628A>G (p.His543Arg) rs780941204 0.00001
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr) rs943322658 0.00001
NM_014956.5(CEP164):c.1725-3T>C rs940650344 0.00001
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln) rs757579833 0.00001
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe) rs923498039 0.00001
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln) rs143553347 0.00001
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys) rs187622644 0.00001
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp) rs1222181370 0.00001
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp) rs760666687 0.00001
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln) rs763183525 0.00001
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe) rs1445485693 0.00001
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp) rs201175046 0.00001
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe) rs749213655 0.00001
NM_014956.5(CEP164):c.20G>A (p.Arg7His) rs1413886061 0.00001
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu) rs780538516 0.00001
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly) rs746693932 0.00001
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met) rs140009020 0.00001
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val) rs555087707 0.00001
NM_014956.5(CEP164):c.2473G>A (p.Val825Met) rs373870559 0.00001
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys) rs977065085 0.00001
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His) rs774896440 0.00001
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp) rs986338516 0.00001
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn) rs753347841 0.00001
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys) rs772514202 0.00001
NM_014956.5(CEP164):c.2776G>C (p.Asp926His) rs751259435 0.00001
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp) rs143446218 0.00001
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu) rs1217613639 0.00001
NM_014956.5(CEP164):c.2884G>A (p.Val962Met) rs750570669 0.00001
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg) rs1416554475 0.00001
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr) rs1316999665 0.00001
NM_014956.5(CEP164):c.3089+6G>A rs374896228 0.00001
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln) rs752093126 0.00001
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln) rs748972612 0.00001
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe) rs142722515 0.00001
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe) rs201488532 0.00001
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn) rs562234273 0.00001
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn) rs760736423 0.00001
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe) rs1307328675 0.00001
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn) rs1182752473 0.00001
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln) rs753895198 0.00001
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn) rs1341181625 0.00001
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile) rs757309937 0.00001
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His) rs758759503 0.00001
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro) rs747917840 0.00001
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala) rs535589696 0.00001
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu) rs1431305580 0.00001
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr) rs1190524819 0.00001
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly) rs765899402 0.00001
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn) rs950631722 0.00001
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln) rs1179932970 0.00001
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln) rs147208889 0.00001
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His) rs963921685 0.00001
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys) rs780550729 0.00001
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp) rs142578192 0.00001
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr) rs919243922 0.00001
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu) rs1006672566 0.00001
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys) rs1171979946 0.00001
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr) rs769207410 0.00001
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro) rs774024619 0.00001
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys) rs753906680 0.00001
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg) rs1338246093 0.00001
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala) rs1360828180 0.00001
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr) rs180911439 0.00001
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp) rs769676851 0.00001
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln) rs772989312 0.00001
NM_014956.5(CEP164):c.418G>A (p.Val140Ile) rs778310001 0.00001
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val) rs191488031 0.00001
NM_014956.5(CEP164):c.422A>G (p.His141Arg) rs200045306 0.00001
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln) rs564746056 0.00001
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu) rs139763142 0.00001
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly) rs140963454 0.00001
NM_014956.5(CEP164):c.530G>A (p.Arg177His) rs199701600 0.00001
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg) rs199924960 0.00001
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn) rs755237805 0.00001
NM_014956.5(CEP164):c.760T>C (p.Tyr254His) rs750854769 0.00001
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys) rs764958657 0.00001
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln) rs769627423 0.00001
NM_014985.3(CEP152):c.-164T>C rs886051268 0.00001
NM_014994.3(MAPKBP1):c.1585+15C>T rs546384224 0.00001
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) rs999767103 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) rs1032816797 0.00001
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala) rs957434595 0.00001
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) rs1015257691 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) rs1846998334 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) rs778111855 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) rs772466321 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 0.00001
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu) rs1362908917 0.00001
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) rs947336270 0.00001
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) rs763771426 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) rs1589671916 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.598A>G (p.Ile200Val) rs1368588434 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889 0.00001
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp) rs1843269972 0.00001
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) rs781671592 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr) rs1842557730 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) rs901741485 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.980A>T (p.Glu327Val) rs1315992594 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_015102.5(NPHP4):c.*285G>A rs1016860847 0.00001
NM_015102.5(NPHP4):c.*97T>A rs1016911668 0.00001
NM_015102.5(NPHP4):c.-206C>A rs539173372 0.00001
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro) rs369951224 0.00001
NM_015102.5(NPHP4):c.1030C>T (p.Arg344Cys) rs777428281 0.00001
NM_015102.5(NPHP4):c.1047C>T (p.Val349=) rs560597983 0.00001
NM_015102.5(NPHP4):c.1065G>A (p.Ala355=) rs562484051 0.00001
NM_015102.5(NPHP4):c.1119T>C (p.Asn373=) rs957523362 0.00001
NM_015102.5(NPHP4):c.1120-7A>G rs1223728002 0.00001
NM_015102.5(NPHP4):c.1147C>G (p.Leu383Val) rs760606576 0.00001
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu) rs767476133 0.00001
NM_015102.5(NPHP4):c.1327C>T (p.Leu443Phe) rs756153293 0.00001
NM_015102.5(NPHP4):c.135+15T>C rs766470480 0.00001
NM_015102.5(NPHP4):c.135+5C>G rs201054350 0.00001
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr) rs374792772 0.00001
NM_015102.5(NPHP4):c.1388G>A (p.Ser463Asn) rs894737324 0.00001
NM_015102.5(NPHP4):c.1397A>G (p.Lys466Arg) rs373787394 0.00001
NM_015102.5(NPHP4):c.139G>A (p.Val47Met) rs1288396418 0.00001
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) rs758253306 0.00001
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln) rs1320696639 0.00001
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser) rs1209081705 0.00001
NM_015102.5(NPHP4):c.1532C>T (p.Pro511Leu) rs761974713 0.00001
NM_015102.5(NPHP4):c.1571C>T (p.Ser524Leu) rs1268005672 0.00001
NM_015102.5(NPHP4):c.1589C>T (p.Ser530Phe) rs1484484784 0.00001
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile) rs931907795 0.00001
NM_015102.5(NPHP4):c.1781C>T (p.Ser594Leu) rs576761309 0.00001
NM_015102.5(NPHP4):c.1816T>C (p.Phe606Leu) rs779132051 0.00001
NM_015102.5(NPHP4):c.1864G>A (p.Ala622Thr) rs1270711258 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.1924G>A (p.Glu642Lys) rs768739130 0.00001
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp) rs771873685 0.00001
NM_015102.5(NPHP4):c.2030C>T (p.Pro677Leu) rs1205793319 0.00001
NM_015102.5(NPHP4):c.2036C>T (p.Thr679Met) rs780615948 0.00001
NM_015102.5(NPHP4):c.203G>A (p.Arg68Gln) rs761188193 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2092G>A (p.Ala698Thr) rs1159326978 0.00001
NM_015102.5(NPHP4):c.20T>A (p.Ile7Asn) rs375883167 0.00001
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys) rs766088144 0.00001
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser) rs780500004 0.00001
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile) rs754838672 0.00001
NM_015102.5(NPHP4):c.2278A>G (p.Ile760Val) rs1044293014 0.00001
NM_015102.5(NPHP4):c.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys) rs149928611 0.00001
NM_015102.5(NPHP4):c.2359G>A (p.Val787Met) rs753373132 0.00001
NM_015102.5(NPHP4):c.2386A>G (p.Met796Val) rs762272616 0.00001
NM_015102.5(NPHP4):c.2420G>A (p.Arg807His) rs376079994 0.00001
NM_015102.5(NPHP4):c.2459G>A (p.Arg820Gln) rs759656675 0.00001
NM_015102.5(NPHP4):c.2482G>A (p.Val828Met) rs774129927 0.00001
NM_015102.5(NPHP4):c.2492C>T (p.Pro831Leu) rs568060648 0.00001
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu) rs1487910110 0.00001
NM_015102.5(NPHP4):c.2593A>C (p.Thr865Pro) rs1254545749 0.00001
NM_015102.5(NPHP4):c.2698G>A (p.Gly900Arg) rs1424882864 0.00001
NM_015102.5(NPHP4):c.2701C>T (p.Pro901Ser) rs886046464 0.00001
NM_015102.5(NPHP4):c.2710G>A (p.Val904Ile) rs886046463 0.00001
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=) rs576473519 0.00001
NM_015102.5(NPHP4):c.2719G>A (p.Glu907Lys) rs1310354413 0.00001
NM_015102.5(NPHP4):c.2725G>T (p.Asp909Tyr) rs777493291 0.00001
NM_015102.5(NPHP4):c.2735G>A (p.Arg912His) rs778343959 0.00001
NM_015102.5(NPHP4):c.2741G>A (p.Arg914His) rs780517756 0.00001
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val) rs770984804 0.00001
NM_015102.5(NPHP4):c.280-5T>G rs908276068 0.00001
NM_015102.5(NPHP4):c.283T>G (p.Leu95Val) rs1384846275 0.00001
NM_015102.5(NPHP4):c.2848C>T (p.Arg950Trp) rs371939932 0.00001
NM_015102.5(NPHP4):c.2906G>A (p.Ser969Asn) rs770493717 0.00001
NM_015102.5(NPHP4):c.2959G>A (p.Val987Ile) rs377683582 0.00001
NM_015102.5(NPHP4):c.3027C>T (p.Ile1009=) rs762202268 0.00001
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp) rs747091960 0.00001
NM_015102.5(NPHP4):c.3089C>G (p.Ala1030Gly) rs774683576 0.00001
NM_015102.5(NPHP4):c.3122T>C (p.Phe1041Ser) rs752229026 0.00001
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala) rs201591531 0.00001
NM_015102.5(NPHP4):c.3262A>G (p.Met1088Val) rs779109338 0.00001
NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met) rs761546950 0.00001
NM_015102.5(NPHP4):c.3349G>A (p.Ala1117Thr) rs764488616 0.00001
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His) rs763251283 0.00001
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys) rs765444252 0.00001
NM_015102.5(NPHP4):c.3413A>T (p.His1138Leu) rs200928069 0.00001
NM_015102.5(NPHP4):c.3416C>T (p.Pro1139Leu) rs759737019 0.00001
NM_015102.5(NPHP4):c.3446G>A (p.Arg1149His) rs749025936 0.00001
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867 0.00001
NM_015102.5(NPHP4):c.3472+2C>T rs746549067 0.00001
NM_015102.5(NPHP4):c.3473-3C>T rs1304642945 0.00001
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val) rs369021103 0.00001
NM_015102.5(NPHP4):c.3512A>C (p.His1171Pro) rs1036719782 0.00001
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu) rs749612555 0.00001
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp) rs772214126 0.00001
NM_015102.5(NPHP4):c.3634A>G (p.Ile1212Val) rs960080480 0.00001
NM_015102.5(NPHP4):c.3645-15C>T rs558429618 0.00001
NM_015102.5(NPHP4):c.3650G>A (p.Arg1217His) rs1389043961 0.00001
NM_015102.5(NPHP4):c.3688C>G (p.Leu1230Val) rs1226725565 0.00001
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His) rs569553635 0.00001
NM_015102.5(NPHP4):c.3721G>A (p.Val1241Ile) rs535789951 0.00001
NM_015102.5(NPHP4):c.3724G>T (p.Ala1242Ser) rs370942610 0.00001
NM_015102.5(NPHP4):c.3728G>C (p.Gly1243Ala) rs1331083721 0.00001
NM_015102.5(NPHP4):c.3769A>T (p.Thr1257Ser) rs770887836 0.00001
NM_015102.5(NPHP4):c.3801T>A (p.His1267Gln) rs1212384350 0.00001
NM_015102.5(NPHP4):c.3816+4C>T rs764632297 0.00001
NM_015102.5(NPHP4):c.3845C>T (p.Pro1282Leu) rs752820537 0.00001
NM_015102.5(NPHP4):c.3864C>T (p.Asp1288=) rs886046459 0.00001
NM_015102.5(NPHP4):c.3877G>A (p.Val1293Met) rs769488870 0.00001
NM_015102.5(NPHP4):c.3910C>T (p.His1304Tyr) rs1483940500 0.00001
NM_015102.5(NPHP4):c.3928G>A (p.Val1310Met) rs1465549509 0.00001
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys) rs531607950 0.00001
NM_015102.5(NPHP4):c.3982C>T (p.Pro1328Ser) rs756207507 0.00001
NM_015102.5(NPHP4):c.3997-3C>T rs991565030 0.00001
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp) rs375476413 0.00001
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr) rs958569972 0.00001
NM_015102.5(NPHP4):c.4057A>G (p.Thr1353Ala) rs950615557 0.00001
NM_015102.5(NPHP4):c.4140+3G>C rs755849307 0.00001
NM_015102.5(NPHP4):c.4181C>T (p.Ala1394Val) rs537985340 0.00001
NM_015102.5(NPHP4):c.4199G>A (p.Gly1400Asp) rs756370237 0.00001
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys) rs373315843 0.00001
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu) rs763112800 0.00001
NM_015102.5(NPHP4):c.4267G>A (p.Val1423Ile) rs1045851958 0.00001
NM_015102.5(NPHP4):c.452+3A>G rs1426440104 0.00001
NM_015102.5(NPHP4):c.457C>T (p.Arg153Trp) rs188946055 0.00001
NM_015102.5(NPHP4):c.505G>C (p.Asp169His) rs1237544876 0.00001
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val) rs763307389 0.00001
NM_015102.5(NPHP4):c.51C>A (p.His17Gln) rs766636945 0.00001
NM_015102.5(NPHP4):c.527A>G (p.His176Arg) rs765166774 0.00001
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His) rs1027187670 0.00001
NM_015102.5(NPHP4):c.625T>A (p.Ser209Thr) rs776658669 0.00001
NM_015102.5(NPHP4):c.631C>G (p.Leu211Val) rs766491055 0.00001
NM_015102.5(NPHP4):c.637C>G (p.Gln213Glu) rs761724605 0.00001
NM_015102.5(NPHP4):c.706C>T (p.Pro236Ser) rs1384084291 0.00001
NM_015102.5(NPHP4):c.713C>T (p.Thr238Met) rs752644932 0.00001
NM_015102.5(NPHP4):c.796G>A (p.Asp266Asn) rs372493501 0.00001
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro) rs1182919955 0.00001
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr) rs1349348418 0.00001
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu) rs752624938 0.00001
NM_015102.5(NPHP4):c.878A>G (p.Asn293Ser) rs368886256 0.00001
NM_015102.5(NPHP4):c.88G>A (p.Ala30Thr) rs1187572016 0.00001
NM_015102.5(NPHP4):c.967A>G (p.Lys323Glu) rs763652381 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_015114.3(ANKLE2):c.2467C>T (p.Arg823Trp) rs753976276 0.00001
NM_015120.4(ALMS1):c.-53C>T rs868088238 0.00001
NM_015160.3(PMPCA):c.485C>T (p.Thr162Met) rs192764146 0.00001
NM_015272.5(RPGRIP1L):c.*107G>A rs770837632 0.00001
NM_015272.5(RPGRIP1L):c.*1597G>A rs1963334195 0.00001
NM_015272.5(RPGRIP1L):c.*1869A>G rs1224541215 0.00001
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818 0.00001
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840 0.00001
NM_015272.5(RPGRIP1L):c.*53G>A rs1963400312 0.00001
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys) rs755258407 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406 0.00001
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp) rs201737322 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872 0.00001
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) rs768672275 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile) rs780672507 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177 0.00001
NM_015272.5(RPGRIP1L):c.3220+17A>C rs1204073957 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn) rs746806282 0.00001
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile) rs905516252 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val) rs1167981125 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NM_015275.3(WASHC4):c.2767A>G (p.Met923Val) rs779313558 0.00001
NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys) rs1880398314 0.00001
NM_015294.6(TRIM37):c.*594A>G rs1349963169 0.00001
NM_015294.6(TRIM37):c.*963A>G rs1021286743 0.00001
NM_015294.6(TRIM37):c.-18C>T rs779613026 0.00001
NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg) rs761341418 0.00001
NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) rs143621221 0.00001
NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) rs774383633 0.00001
NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys) rs2039198414 0.00001
NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr) rs905269944 0.00001
NM_015294.6(TRIM37):c.2556G>A (p.Arg852=) rs2035829725 0.00001
NM_015294.6(TRIM37):c.2746G>A (p.Glu916Lys) rs527789426 0.00001
NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile) rs1213033682 0.00001
NM_015311.3(OBSL1):c.-97A>G rs886055671 0.00001
NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) rs563580301 0.00001
NM_015311.3(OBSL1):c.1298G>A (p.Arg433His) rs763001564 0.00001
NM_015311.3(OBSL1):c.1311G>T (p.Lys437Asn) rs771801313 0.00001
NM_015311.3(OBSL1):c.1404G>A (p.Leu468=) rs886055665 0.00001
NM_015311.3(OBSL1):c.142G>A (p.Gly48Ser) rs994677442 0.00001
NM_015311.3(OBSL1):c.1590C>T (p.His530=) rs145850612 0.00001
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) rs762452921 0.00001
NM_015311.3(OBSL1):c.2498G>A (p.Arg833Gln) rs754132672 0.00001
NM_015311.3(OBSL1):c.2656G>A (p.Ala886Thr) rs750124482 0.00001
NM_015311.3(OBSL1):c.2721T>C (p.Tyr907=) rs752289812 0.00001
NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) rs772500074 0.00001
NM_015311.3(OBSL1):c.2977C>T (p.Pro993Ser) rs1292400698 0.00001
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) rs780996145 0.00001
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) rs750782462 0.00001
NM_015311.3(OBSL1):c.3415A>C (p.Thr1139Pro) rs748797002 0.00001
NM_015311.3(OBSL1):c.3591G>C (p.Leu1197=) rs748453233 0.00001
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) rs533142740 0.00001
NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) rs570704076 0.00001
NM_015311.3(OBSL1):c.4183A>G (p.Asn1395Asp) rs760052544 0.00001
NM_015311.3(OBSL1):c.46C>A (p.Arg16Ser) rs1395696695 0.00001
NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr) rs886055660 0.00001
NM_015311.3(OBSL1):c.4950C>T (p.Cys1650=) rs556686718 0.00001
NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu) rs886055658 0.00001
NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) rs370898052 0.00001
NM_015311.3(OBSL1):c.907G>A (p.Val303Met) rs776142005 0.00001
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) rs772859137 0.00001
NM_015341.5(NCAPH):c.1952T>C (p.Met651Thr) rs2064714077 0.00001
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp) rs775767366 0.00001
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His) rs180883554 0.00001
NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met) rs201819449 0.00001
NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala) rs1465369949 0.00001
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_015404.4(WHRN):c.*554C>T rs886063367 0.00001
NM_015404.4(WHRN):c.*613A>G rs1042938459 0.00001
NM_015404.4(WHRN):c.-92C>T rs1289815111 0.00001
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) rs763238664 0.00001
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) rs759109990 0.00001
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372 0.00001
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359 0.00001
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371 0.00001
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) rs750597763 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) rs751846994 0.00001
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370 0.00001
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422 0.00001
NM_015404.4(WHRN):c.2419-5C>T rs767910166 0.00001
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met) rs140344596 0.00001
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) rs138731082 0.00001
NM_015404.4(WHRN):c.684C>T (p.Tyr228=) rs377363590 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_015404.4(WHRN):c.837+5G>C rs201863779 0.00001
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His) rs201250022 0.00001
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg) rs2063734567 0.00001
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp) rs1232169509 0.00001
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser) rs1273114275 0.00001
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys) rs761561066 0.00001
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp) rs773888401 0.00001
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly) rs916801950 0.00001
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile) rs759140727 0.00001
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys) rs776994886 0.00001
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His) rs140417977 0.00001
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys) rs745950444 0.00001
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159 0.00001
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser) rs1233436073 0.00001
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr) rs1311797673 0.00001
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly) rs145360072 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser) rs886645360 0.00001
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly) rs747437917 0.00001
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala) rs770504610 0.00001
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys) rs6130037 0.00001
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr) rs779491090 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp) rs1568788278 0.00001
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu) rs752755786 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly) rs768245328 0.00001
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys) rs765628260 0.00001
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser) rs141599277 0.00001
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn) rs751790128 0.00001
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His) rs1274894909 0.00001
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys) rs758586131 0.00001
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly) rs1235922763 0.00001
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys) rs1306109528 0.00001
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr) rs1455837248 0.00001
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) rs748150321 0.00001
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln) rs781223072 0.00001
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe) rs1053324143 0.00001
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=) rs764763884 0.00001
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=) rs763408711 0.00001
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro) rs757614478 0.00001
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val) rs754150741 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_015474.4(SAMHD1):c.852+6T>C rs1360565476 0.00001
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu) rs551472065 0.00001
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu) rs1300702859 0.00001
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys) rs1351629453 0.00001
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His) rs755046462 0.00001
NM_015602.4(TOR1AIP1):c.1010G>A (p.Arg337Gln) rs576474780 0.00001
NM_015602.4(TOR1AIP1):c.1012T>C (p.Trp338Arg) rs769461759 0.00001
NM_015602.4(TOR1AIP1):c.101C>A (p.Pro34His) rs771167764 0.00001
NM_015602.4(TOR1AIP1):c.112G>A (p.Gly38Ser) rs777102321 0.00001
NM_015602.4(TOR1AIP1):c.1163A>C (p.Lys388Thr) rs367617812 0.00001
NM_015602.4(TOR1AIP1):c.1241C>G (p.Ala414Gly) rs757678339 0.00001
NM_015602.4(TOR1AIP1):c.1282C>G (p.Gln428Glu) rs772076024 0.00001
NM_015602.4(TOR1AIP1):c.1327C>T (p.Arg443Trp) rs763037095 0.00001
NM_015602.4(TOR1AIP1):c.139A>C (p.Thr47Pro) rs1553240716 0.00001
NM_015602.4(TOR1AIP1):c.142C>T (p.Pro48Ser) rs765495241 0.00001
NM_015602.4(TOR1AIP1):c.1465A>G (p.Thr489Ala) rs375127929 0.00001
NM_015602.4(TOR1AIP1):c.1711G>T (p.Val571Leu) rs908965605 0.00001
NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr) rs775375281 0.00001
NM_015602.4(TOR1AIP1):c.286A>G (p.Lys96Glu) rs1647762682 0.00001
NM_015602.4(TOR1AIP1):c.308C>T (p.Ala103Val) rs777465166 0.00001
NM_015602.4(TOR1AIP1):c.35G>A (p.Arg12Gln) rs780125585 0.00001
NM_015602.4(TOR1AIP1):c.366G>A (p.Met122Ile) rs766817911 0.00001
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met) rs377375784 0.00001
NM_015602.4(TOR1AIP1):c.380C>T (p.Thr127Ile) rs200812894 0.00001
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu) rs760733600 0.00001
NM_015602.4(TOR1AIP1):c.43T>C (p.Trp15Arg) rs748263394 0.00001
NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr) rs1376862055 0.00001
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln) rs773422033 0.00001
NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn) rs1647780800 0.00001
NM_015602.4(TOR1AIP1):c.47G>T (p.Gly16Val) rs773770986 0.00001
NM_015602.4(TOR1AIP1):c.581G>A (p.Arg194His) rs761858266 0.00001
NM_015602.4(TOR1AIP1):c.611-10T>A rs1425465064 0.00001
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu) rs1198939008 0.00001
NM_015602.4(TOR1AIP1):c.794A>G (p.Gln265Arg) rs768807943 0.00001
NM_015602.4(TOR1AIP1):c.79G>A (p.Glu27Lys) rs750432849 0.00001
NM_015602.4(TOR1AIP1):c.80A>T (p.Glu27Val) rs1647741420 0.00001
NM_015602.4(TOR1AIP1):c.83G>A (p.Gly28Glu) rs1008146553 0.00001
NM_015602.4(TOR1AIP1):c.88G>C (p.Gly30Arg) rs779312410 0.00001
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp) rs770895707 0.00001
NM_015602.4(TOR1AIP1):c.962G>A (p.Arg321Gln) rs1045988718 0.00001
NM_015602.4(TOR1AIP1):c.964+5G>A rs561816881 0.00001
NM_015602.4(TOR1AIP1):c.965-3T>C rs755443913 0.00001
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys) rs749207320 0.00001
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys) rs755816980 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val) rs772607856 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys) rs984586780 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 0.00001
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr) rs776148073 0.00001
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu) rs1271431771 0.00001
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr) rs1009534874 0.00001
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala) rs569281478 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp) rs148997142 0.00001
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg) rs1008321384 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp) rs779395435 0.00001
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val) rs1665910456 0.00001
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg) rs765703265 0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr) rs766061673 0.00001
NM_015662.3(IFT172):c.403G>A (p.Val135Ile) rs201476743 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 0.00001
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749 0.00001
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652 0.00001
NM_015665.6(AAAS):c.1229G>A (p.Arg410His) rs768786904 0.00001
NM_015665.6(AAAS):c.124-4A>G rs886049651 0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041 0.00001
NM_015665.6(AAAS):c.1417-14T>G rs748004231 0.00001
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu) rs751967235 0.00001
NM_015665.6(AAAS):c.721C>T (p.His241Tyr) rs1944356188 0.00001
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser) rs1745022731 0.00001
NM_015665.6(AAAS):c.981A>G (p.Leu327=) rs1174765635 0.00001
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys) rs560069464 0.00001
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) rs775175927 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) rs780889876 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) rs766017009 0.00001
NM_015910.6(WDPCP):c.-301G>A rs886056227 0.00001
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser) rs779714128 0.00001
NM_015910.7(WDPCP):c.1049A>G (p.Asp350Gly) rs1469275937 0.00001
NM_015910.7(WDPCP):c.1101C>A (p.His367Gln) rs904401906 0.00001
NM_015910.7(WDPCP):c.1186A>C (p.Ser396Arg) rs936904170 0.00001
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val) rs1040913823 0.00001
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His) rs1441739882 0.00001
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys) rs769165669 0.00001
NM_015910.7(WDPCP):c.1259G>A (p.Arg420His) rs749726622 0.00001
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly) rs745555236 0.00001
NM_015910.7(WDPCP):c.1291T>G (p.Leu431Val) rs746549040 0.00001
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg) rs373940251 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu) rs750245323 0.00001
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr) rs370842356 0.00001
NM_015910.7(WDPCP):c.1505A>G (p.Tyr502Cys) rs559295906 0.00001
NM_015910.7(WDPCP):c.1511C>T (p.Ala504Val) rs1462636982 0.00001
NM_015910.7(WDPCP):c.1546C>G (p.Leu516Val) rs766821661 0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr) rs534102944 0.00001
NM_015910.7(WDPCP):c.1606C>G (p.Leu536Val) rs955196377 0.00001
NM_015910.7(WDPCP):c.166G>C (p.Asp56His) rs375016562 0.00001
NM_015910.7(WDPCP):c.1670C>T (p.Pro557Leu) rs760413825 0.00001
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val) rs1168632851 0.00001
NM_015910.7(WDPCP):c.1705C>G (p.Gln569Glu) rs1026359002 0.00001
NM_015910.7(WDPCP):c.170T>C (p.Ile57Thr) rs757037739 0.00001
NM_015910.7(WDPCP):c.1730T>G (p.Phe577Cys) rs1439554090 0.00001
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys) rs747517141 0.00001
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu) rs750924240 0.00001
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His) rs373413042 0.00001
NM_015910.7(WDPCP):c.1982C>T (p.Pro661Leu) rs572858289 0.00001
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys) rs1242470451 0.00001
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys) rs765674630 0.00001
NM_015910.7(WDPCP):c.2147G>A (p.Cys716Tyr) rs772286167 0.00001
NM_015910.7(WDPCP):c.2149A>C (p.Asn717His) rs748189167 0.00001
NM_015910.7(WDPCP):c.2159-14A>G rs748390681 0.00001
NM_015910.7(WDPCP):c.2169G>C (p.Leu723=) rs746225322 0.00001
NM_015910.7(WDPCP):c.2173G>A (p.Glu725Lys) rs1370629959 0.00001
NM_015910.7(WDPCP):c.2190+1G>A rs1671980611 0.00001
NM_015910.7(WDPCP):c.21G>C (p.Trp7Cys) rs1200911623 0.00001
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn) rs1206045016 0.00001
NM_015910.7(WDPCP):c.24C>G (p.Asp8Glu) rs548483405 0.00001
NM_015910.7(WDPCP):c.253T>G (p.Ser85Ala) rs866240226 0.00001
NM_015910.7(WDPCP):c.255A>G (p.Ser85=) rs1252079324 0.00001
NM_015910.7(WDPCP):c.270G>T (p.Trp90Cys) rs758930140 0.00001
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln) rs746158542 0.00001
NM_015910.7(WDPCP):c.304G>C (p.Asp102His) rs757449444 0.00001
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu) rs376758858 0.00001
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln) rs1444169850 0.00001
NM_015910.7(WDPCP):c.332T>C (p.Met111Thr) rs1392647874 0.00001
NM_015910.7(WDPCP):c.385-8G>A rs1277892197 0.00001
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe) rs756891717 0.00001
NM_015910.7(WDPCP):c.424T>C (p.Ser142Pro) rs529607482 0.00001
NM_015910.7(WDPCP):c.451A>C (p.Ile151Leu) rs776529473 0.00001
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg) rs952535961 0.00001
NM_015910.7(WDPCP):c.486C>T (p.Asp162=) rs372538263 0.00001
NM_015910.7(WDPCP):c.56C>T (p.Ser19Phe) rs781606829 0.00001
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly) rs750252971 0.00001
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu) rs755148252 0.00001
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser) rs761312526 0.00001
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val) rs774816454 0.00001
NM_015910.7(WDPCP):c.757G>A (p.Ala253Thr) rs531251663 0.00001
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His) rs1374748295 0.00001
NM_015910.7(WDPCP):c.856C>T (p.Pro286Ser) rs367653779 0.00001
NM_015910.7(WDPCP):c.940G>A (p.Ala314Thr) rs1694413400 0.00001
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val) rs747114578 0.00001
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp) rs545767612 0.00001
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln) rs991936622 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016042.4(EXOSC3):c.*312T>G rs1044154281 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln) rs748839685 0.00001
NM_016122.3(CEP83):c.1028A>G (p.Lys343Arg) rs1207972213 0.00001
NM_016122.3(CEP83):c.1048+6A>G rs562683007 0.00001
NM_016122.3(CEP83):c.117G>C (p.Arg39Ser) rs772413915 0.00001
NM_016122.3(CEP83):c.1183C>G (p.Gln395Glu) rs763560797 0.00001
NM_016122.3(CEP83):c.1243C>G (p.His415Asp) rs752099250 0.00001
NM_016122.3(CEP83):c.1244A>G (p.His415Arg) rs202152669 0.00001
NM_016122.3(CEP83):c.124T>C (p.Cys42Arg) rs778603039 0.00001
NM_016122.3(CEP83):c.1273C>G (p.Gln425Glu) rs370718016 0.00001
NM_016122.3(CEP83):c.1318A>T (p.Thr440Ser) rs1483402500 0.00001
NM_016122.3(CEP83):c.1369A>G (p.Thr457Ala) rs1200906037 0.00001
NM_016122.3(CEP83):c.1544G>A (p.Ser515Asn) rs1416850005 0.00001
NM_016122.3(CEP83):c.1649A>G (p.Glu550Gly) rs2059234849 0.00001
NM_016122.3(CEP83):c.166C>T (p.His56Tyr) rs2063937105 0.00001
NM_016122.3(CEP83):c.173+3A>G rs1008800566 0.00001
NM_016122.3(CEP83):c.1982C>T (p.Pro661Leu) rs369393274 0.00001
NM_016122.3(CEP83):c.2000A>G (p.Gln667Arg) rs752381662 0.00001
NM_016122.3(CEP83):c.2027C>G (p.Ser676Cys) rs369894676 0.00001
NM_016122.3(CEP83):c.2043A>T (p.Arg681Ser) rs773705721 0.00001
NM_016122.3(CEP83):c.2045T>C (p.Leu682Pro) rs1212565080 0.00001
NM_016122.3(CEP83):c.263T>C (p.Leu88Pro) rs2063896707 0.00001
NM_016122.3(CEP83):c.41A>G (p.Asn14Ser) rs1267428590 0.00001
NM_016122.3(CEP83):c.422T>C (p.Val141Ala) rs765494844 0.00001
NM_016122.3(CEP83):c.431A>G (p.Tyr144Cys) rs757820515 0.00001
NM_016122.3(CEP83):c.479C>T (p.Ser160Leu) rs747045010 0.00001
NM_016122.3(CEP83):c.511C>T (p.Arg171Cys) rs372235599 0.00001
NM_016122.3(CEP83):c.512G>A (p.Arg171His) rs779396873 0.00001
NM_016122.3(CEP83):c.569A>G (p.Asp190Gly) rs2061696691 0.00001
NM_016122.3(CEP83):c.571_573del (p.Lys191del) rs761860782 0.00001
NM_016122.3(CEP83):c.581T>C (p.Leu194Pro) rs765908199 0.00001
NM_016122.3(CEP83):c.583C>T (p.Arg195Cys) rs550020211 0.00001
NM_016122.3(CEP83):c.587A>G (p.Asn196Ser) rs772202501 0.00001
NM_016122.3(CEP83):c.614A>G (p.Lys205Arg) rs1566032936 0.00001
NM_016122.3(CEP83):c.61G>A (p.Asp21Asn) rs1003708280 0.00001
NM_016122.3(CEP83):c.629T>G (p.Val210Gly) rs1370385732 0.00001
NM_016122.3(CEP83):c.661T>C (p.Cys221Arg) rs1355622201 0.00001
NM_016122.3(CEP83):c.682G>A (p.Glu228Lys) rs770968672 0.00001
NM_016122.3(CEP83):c.701T>C (p.Leu234Ser) rs2061688764 0.00001
NM_016122.3(CEP83):c.731A>G (p.Gln244Arg) rs1340583178 0.00001
NM_016122.3(CEP83):c.760C>T (p.Arg254Trp) rs373726888 0.00001
NM_016122.3(CEP83):c.772G>C (p.Glu258Gln) rs201682129 0.00001
NM_016122.3(CEP83):c.790A>G (p.Arg264Gly) rs1197540570 0.00001
NM_016122.3(CEP83):c.827G>A (p.Arg276Gln) rs772661302 0.00001
NM_016122.3(CEP83):c.842A>G (p.Glu281Gly) rs1383193849 0.00001
NM_016122.3(CEP83):c.860G>A (p.Ser287Asn) rs893839841 0.00001
NM_016122.3(CEP83):c.896A>G (p.His299Arg) rs751492070 0.00001
NM_016122.3(CEP83):c.934G>A (p.Val312Ile) rs367764494 0.00001
NM_016194.4(GNB5):c.391G>A (p.Val131Met) rs1253307264 0.00001
NM_016219.5(MAN1B1):c.*389C>G rs1489403973 0.00001
NM_016219.5(MAN1B1):c.*404T>C rs759863657 0.00001
NM_016219.5(MAN1B1):c.*587C>G rs946716926 0.00001
NM_016219.5(MAN1B1):c.1001G>A (p.Arg334His) rs1476136894 0.00001
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr) rs184782012 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp) rs1037141680 0.00001
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=) rs751469511 0.00001
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr) rs764475116 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val) rs770987752 0.00001
NM_016219.5(MAN1B1):c.1765-20G>C rs1225685090 0.00001
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg) rs776114448 0.00001
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.2083A>G (p.Ile695Val) rs963979748 0.00001
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe) rs776658507 0.00001
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala) rs763520482 0.00001
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile) rs763744643 0.00001
NM_016219.5(MAN1B1):c.466-12A>G rs760066464 0.00001
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn) rs534967836 0.00001
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=) rs1430903884 0.00001
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=) rs151136979 0.00001
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser) rs573766677 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) rs777884272 0.00001
NM_016239.4(MYO15A):c.*166C>A rs886052683 0.00001
NM_016239.4(MYO15A):c.*649C>T rs1015125092 0.00001
NM_016239.4(MYO15A):c.*714G>A rs568482771 0.00001
NM_016239.4(MYO15A):c.10395G>T (p.Arg3465=) rs747753156 0.00001
NM_016239.4(MYO15A):c.10442C>T (p.Ala3481Val) rs200551105 0.00001
NM_016239.4(MYO15A):c.1259C>T (p.Ser420Leu) rs771720592 0.00001
NM_016239.4(MYO15A):c.1589C>T (p.Pro530Leu) rs1263758551 0.00001
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) rs964336018 0.00001
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser) rs1424289379 0.00001
NM_016239.4(MYO15A):c.2920C>T (p.Pro974Ser) rs768750770 0.00001
NM_016239.4(MYO15A):c.3275C>T (p.Ala1092Val) rs1271240611 0.00001
NM_016239.4(MYO15A):c.3320G>A (p.Arg1107His) rs746368529 0.00001
NM_016239.4(MYO15A):c.3679A>G (p.Met1227Val) rs750965550 0.00001
NM_016239.4(MYO15A):c.3844C>T (p.Arg1282Trp) rs757155918 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.4142+12C>G rs772584938 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) rs774077101 0.00001
NM_016239.4(MYO15A):c.4430G>A (p.Arg1477His) rs374320243 0.00001
NM_016239.4(MYO15A):c.4597-9C>T rs117767901 0.00001
NM_016239.4(MYO15A):c.4779+5G>A rs772198042 0.00001
NM_016239.4(MYO15A):c.5007+7C>T rs771945203 0.00001
NM_016239.4(MYO15A):c.5237A>G (p.His1746Arg) rs1417723633 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.581G>A (p.Arg194His) rs1423809264 0.00001
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys) rs749019041 0.00001
NM_016239.4(MYO15A):c.603G>C (p.Glu201Asp) rs1212488587 0.00001
NM_016239.4(MYO15A):c.6273+15C>G rs773272314 0.00001
NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg) rs756396137 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6457G>A (p.Ala2153Thr) rs746552269 0.00001
NM_016239.4(MYO15A):c.6559C>T (p.Arg2187Cys) rs770280616 0.00001
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) rs558947304 0.00001
NM_016239.4(MYO15A):c.671A>G (p.Tyr224Cys) rs779508600 0.00001
NM_016239.4(MYO15A):c.7154A>G (p.Lys2385Arg) rs756313439 0.00001
NM_016239.4(MYO15A):c.723C>T (p.Asp241=) rs753964516 0.00001
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) rs756565842 0.00001
NM_016239.4(MYO15A):c.7633G>T (p.Asp2545Tyr) rs577721556 0.00001
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=) rs566210647 0.00001
NM_016239.4(MYO15A):c.7782C>A (p.Ala2594=) rs756119154 0.00001
NM_016239.4(MYO15A):c.7990C>A (p.Pro2664Thr) rs577657134 0.00001
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) rs368088727 0.00001
NM_016239.4(MYO15A):c.8892C>T (p.Gly2964=) rs756004991 0.00001
NM_016239.4(MYO15A):c.8928C>G (p.Ala2976=) rs2046705692 0.00001
NM_016239.4(MYO15A):c.901C>G (p.Pro301Ala) rs758899795 0.00001
NM_016239.4(MYO15A):c.9067C>T (p.Pro3023Ser) rs746127887 0.00001
NM_016239.4(MYO15A):c.9706G>A (p.Val3236Met) rs761943694 0.00001
NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp) rs753636454 0.00001
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile) rs1367144327 0.00001
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala) rs773832570 0.00001
NM_016356.5(DCDC2):c.151G>C (p.Val51Leu) rs554313786 0.00001
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp) rs776415168 0.00001
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu) rs779076957 0.00001
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) rs746447569 0.00001
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala) rs1170717426 0.00001
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser) rs781040616 0.00001
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val) rs768904294 0.00001
NM_016373.4(WWOX):c.1054A>G (p.Met352Val) rs575317950 0.00001
NM_016373.4(WWOX):c.107+6G>A rs1276657647 0.00001
NM_016373.4(WWOX):c.108-3C>T rs1163967827 0.00001
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) rs778218106 0.00001
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly) rs2051755192 0.00001
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser) rs770628801 0.00001
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile) rs775460117 0.00001
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr) rs758746365 0.00001
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser) rs544760115 0.00001
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly) rs1316600993 0.00001
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr) rs375970162 0.00001
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly) rs2051763292 0.00001
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp) rs923748427 0.00001
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter) rs1197462916 0.00001
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro) rs368397011 0.00001
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe) rs771850922 0.00001
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg) rs775696083 0.00001
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys) rs558101281 0.00001
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg) rs767880120 0.00001
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn) rs1461547362 0.00001
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly) rs776969977 0.00001
NM_016373.4(WWOX):c.28G>C (p.Asp10His) rs781180473 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.379G>A (p.Val127Ile) rs1183597678 0.00001
NM_016373.4(WWOX):c.385G>C (p.Val129Leu) rs781732002 0.00001
NM_016373.4(WWOX):c.409+5G>A rs1305123836 0.00001
NM_016373.4(WWOX):c.409+6C>G rs780224603 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_016373.4(WWOX):c.516+3A>G rs200058019 0.00001
NM_016373.4(WWOX):c.518A>G (p.His173Arg) rs770595933 0.00001
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp) rs991773402 0.00001
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr) rs778951309 0.00001
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn) rs776354746 0.00001
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr) rs370367979 0.00001
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg) rs1011606866 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.606-16A>G rs139257288 0.00001
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr) rs370737224 0.00001
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro) rs1385370021 0.00001
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn) rs367599412 0.00001
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn) rs982171635 0.00001
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn) rs768734917 0.00001
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser) rs1349025177 0.00001
NM_016373.4(WWOX):c.691G>C (p.Val231Leu) rs755974419 0.00001
NM_016373.4(WWOX):c.698A>T (p.His233Leu) rs1266205670 0.00001
NM_016373.4(WWOX):c.704G>T (p.Gly235Val) rs1169887175 0.00001
NM_016373.4(WWOX):c.708C>G (p.His236Gln) rs745681407 0.00001
NM_016373.4(WWOX):c.715C>G (p.Leu239Val) rs575080327 0.00001
NM_016373.4(WWOX):c.737T>C (p.Val246Ala) rs200966505 0.00001
NM_016373.4(WWOX):c.763G>A (p.Val255Ile) rs765590833 0.00001
NM_016373.4(WWOX):c.766A>G (p.Ile256Val) rs1023419687 0.00001
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe) rs758222414 0.00001
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu) rs756228469 0.00001
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu) rs372225190 0.00001
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln) rs771726317 0.00001
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys) rs1186552961 0.00001
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys) rs369890118 0.00001
NM_016373.4(WWOX):c.870G>A (p.Met290Ile) rs199809390 0.00001
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp) rs775585652 0.00001
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys) rs1385421754 0.00001
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser) rs1224888299 0.00001
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys) rs1326472012 0.00001
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala) rs370345936 0.00001
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys) rs781683643 0.00001
NM_016373.4(WWOX):c.947T>C (p.Val316Ala) rs1476364680 0.00001
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu) rs766163069 0.00001
NM_016373.4(WWOX):c.980T>C (p.Met327Thr) rs1567570484 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) rs773847949 0.00001
NM_016464.5(TMEM138):c.-17G>A rs757369483 0.00001
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp) rs766349558 0.00001
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr) rs767361822 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser) rs934639615 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) rs775913576 0.00001
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) rs1171835963 0.00001
NM_016614.3(TDP2):c.97G>T (p.Ala33Ser) rs760554150 0.00001
NM_016938.5(EFEMP2):c.*174G>A rs762945459 0.00001
NM_016938.5(EFEMP2):c.*182A>G rs1565271753 0.00001
NM_016938.5(EFEMP2):c.*247A>C rs1486449571 0.00001
NM_016938.5(EFEMP2):c.-10C>T rs1859987394 0.00001
NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln) rs138210467 0.00001
NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val) rs768004972 0.00001
NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His) rs373485109 0.00001
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met) rs921412303 0.00001
NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser) rs1294797610 0.00001
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) rs543567156 0.00001
NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met) rs372299119 0.00001
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp) rs774325189 0.00001
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) rs61893867 0.00001
NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr) rs1468378128 0.00001
NM_016938.5(EFEMP2):c.19T>G (p.Cys7Gly) rs1344778966 0.00001
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr) rs148604051 0.00001
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) rs141721562 0.00001
NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr) rs1008465800 0.00001
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) rs762409753 0.00001
NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn) rs749326725 0.00001
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) rs377199919 0.00001
NM_016938.5(EFEMP2):c.475G>A (p.Gly159Arg) rs1248173748 0.00001
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn) rs145037272 0.00001
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) rs762712612 0.00001
NM_016938.5(EFEMP2):c.541C>T (p.Pro181Ser) rs1351534292 0.00001
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) rs1361657266 0.00001
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) rs1565273832 0.00001
NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys) rs766531680 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_016938.5(EFEMP2):c.677G>A (p.Cys226Tyr) rs760244280 0.00001
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) rs756905509 0.00001
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met) rs544423133 0.00001
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) rs1011011078 0.00001
NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala) rs1161566620 0.00001
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) rs781029572 0.00001
NM_017433.5(MYO3A):c.*2C>G rs768182699 0.00001
NM_017433.5(MYO3A):c.*435G>T rs886046931 0.00001
NM_017433.5(MYO3A):c.1276-5T>C rs142877629 0.00001
NM_017433.5(MYO3A):c.1746A>G (p.Gln582=) rs775168365 0.00001
NM_017433.5(MYO3A):c.1899G>T (p.Glu633Asp) rs1004108483 0.00001
NM_017433.5(MYO3A):c.1975G>A (p.Gly659Arg) rs201181958 0.00001
NM_017433.5(MYO3A):c.1991G>T (p.Arg664Leu) rs886042194 0.00001
NM_017433.5(MYO3A):c.2115-7C>A rs764917474 0.00001
NM_017433.5(MYO3A):c.2701A>G (p.Ile901Val) rs1371951424 0.00001
NM_017433.5(MYO3A):c.2854A>C (p.Ile952Leu) rs767552680 0.00001
NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln) rs764099857 0.00001
NM_017433.5(MYO3A):c.3757T>C (p.Ser1253Pro) rs541189709 0.00001
NM_017433.5(MYO3A):c.3763G>A (p.Ala1255Thr) rs1842186309 0.00001
NM_017433.5(MYO3A):c.4489C>T (p.Arg1497Trp) rs886046926 0.00001
NM_017433.5(MYO3A):c.4849T>C (p.Ter1617Gln) rs141985215 0.00001
NM_017433.5(MYO3A):c.509-15T>C rs1842008289 0.00001
NM_017433.5(MYO3A):c.706A>G (p.Met236Val) rs766118638 0.00001
NM_017433.5(MYO3A):c.859A>C (p.Ile287Leu) rs886046919 0.00001
NM_017433.5(MYO3A):c.912C>A (p.Phe304Leu) rs1458926642 0.00001
NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn) rs1180111779 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser) rs746894472 0.00001
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His) rs1194702277 0.00001
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala) rs1267806554 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) rs1332597566 0.00001
NM_017739.4(POMGNT1):c.110G>T (p.Arg37Ile) rs144746222 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=) rs760312462 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1192A>G (p.Ile398Val) rs1460430901 0.00001
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346 0.00001
NM_017739.4(POMGNT1):c.120+6G>C rs1344774466 0.00001
NM_017739.4(POMGNT1):c.1284+5G>T rs1257224073 0.00001
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser) rs1314508009 0.00001
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly) rs781221088 0.00001
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724 0.00001
NM_017739.4(POMGNT1):c.1439G>A (p.Arg480Gln) rs779428703 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile) rs766383336 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 0.00001
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp) rs149482430 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val) rs886044042 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala) rs768245322 0.00001
NM_017739.4(POMGNT1):c.1847G>A (p.Arg616Gln) rs775534917 0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894 0.00001
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169 0.00001
NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser) rs771922809 0.00001
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu) rs1467007123 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys) rs749603354 0.00001
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro) rs780158040 0.00001
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu) rs1459243404 0.00001
NM_017739.4(POMGNT1):c.330A>G (p.Val110=) rs1658269711 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796 0.00001
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373 0.00001
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu) rs770366321 0.00001
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met) rs886044363 0.00001
NM_017739.4(POMGNT1):c.478A>G (p.Met160Val) rs1355389149 0.00001
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val) rs200643988 0.00001
NM_017739.4(POMGNT1):c.553C>G (p.Leu185Val) rs757919524 0.00001
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) rs868433749 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe) rs147938876 0.00001
NM_017739.4(POMGNT1):c.691C>G (p.Leu231Val) rs771429702 0.00001
NM_017739.4(POMGNT1):c.712G>C (p.Val238Leu) rs755032396 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val) rs886043972 0.00001
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys) rs369306680 0.00001
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His) rs748559972 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys) rs200789546 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.889A>G (p.Asn297Asp) rs752393375 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met) rs71653997 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) rs368653589 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) rs1306444778 0.00001
NM_017739.4(POMGNT1):c.988C>T (p.Pro330Ser) rs748027760 0.00001
NM_017755.6(NSUN2):c.*85G>A rs1429279900 0.00001
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg) rs375923267 0.00001
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter) rs886060728 0.00001
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly) rs373663619 0.00001
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile) rs760184188 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.447C>T (p.Ser149=) rs750376903 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017791.3(FLVCR2):c.*893T>C rs1890444124 0.00001
NM_017791.3(FLVCR2):c.*952T>G rs747845375 0.00001
NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs) rs779784201 0.00001
NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp) rs139495418 0.00001
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) rs767398242 0.00001
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle) rs746459536 0.00001
NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr) rs886050786 0.00001
NM_017791.3(FLVCR2):c.69G>A (p.Ala23=) rs1888525051 0.00001
NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg) rs768707435 0.00001
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg) rs267606823 0.00001
NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser) rs779117746 0.00001
NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr) rs1217940902 0.00001
NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter) rs200126749 0.00001
NM_017825.3(ADPRS):c.136G>T (p.Val46Phe) rs749889837 0.00001
NM_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) rs759315257 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_017929.5(PEX26):c.-167C>T rs886057244 0.00001
NM_018063.5(HELLS):c.360A>G (p.Glu120=) rs780887609 0.00001
NM_018075.5(ANO10):c.*237G>C rs904271838 0.00001
NM_018075.5(ANO10):c.-102C>A rs886058484 0.00001
NM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys) rs145543748 0.00001
NM_018075.5(ANO10):c.1628G>A (p.Arg543His) rs372086237 0.00001
NM_018075.5(ANO10):c.1923G>A (p.Lys641=) rs1260794121 0.00001
NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys) rs886058480 0.00001
NM_018075.5(ANO10):c.676G>A (p.Ala226Thr) rs188443010 0.00001
NM_018075.5(ANO10):c.802A>G (p.Met268Val) rs372215383 0.00001
NM_018075.5(ANO10):c.853C>T (p.Arg285Trp) rs767044966 0.00001
NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser) rs771770775 0.00001
NM_018131.5(CEP55):c.1373A>G (p.His458Arg) rs753355777 0.00001
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln) rs537930821 0.00001
NM_018136.5(ASPM):c.10109C>G (p.Thr3370Arg) rs587783209 0.00001
NM_018136.5(ASPM):c.112G>A (p.Val38Ile) rs587783214 0.00001
NM_018136.5(ASPM):c.128A>G (p.His43Arg) rs763864896 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr) rs757587073 0.00001
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile) rs766146033 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.1857T>C (p.Asn619=) rs747330693 0.00001
NM_018136.5(ASPM):c.193C>A (p.Leu65Met) rs780727023 0.00001
NM_018136.5(ASPM):c.2062A>C (p.Asn688His) rs775158833 0.00001
NM_018136.5(ASPM):c.2173+5A>T rs1196624971 0.00001
NM_018136.5(ASPM):c.2312G>A (p.Arg771His) rs375059809 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg) rs372956877 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018136.5(ASPM):c.2936+13A>G rs759746669 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) rs149330414 0.00001
NM_018136.5(ASPM):c.3622G>A (p.Glu1208Lys) rs1320488101 0.00001
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp) rs867611929 0.00001
NM_018136.5(ASPM):c.3725C>T (p.Thr1242Ile) rs923491109 0.00001
NM_018136.5(ASPM):c.3825A>C (p.Thr1275=) rs587783237 0.00001
NM_018136.5(ASPM):c.3895A>G (p.Ile1299Val) rs770550480 0.00001
NM_018136.5(ASPM):c.396C>G (p.His132Gln) rs761152464 0.00001
NM_018136.5(ASPM):c.4206G>A (p.Arg1402=) rs1657367896 0.00001
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly) rs769921325 0.00001
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln) rs587783243 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys) rs751358312 0.00001
NM_018136.5(ASPM):c.4560del (p.Tyr1521fs) rs1402437185 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.5055G>T (p.Leu1685Phe) rs768697877 0.00001
NM_018136.5(ASPM):c.5098C>T (p.His1700Tyr) rs749580322 0.00001
NM_018136.5(ASPM):c.5131T>C (p.Cys1711Arg) rs886045773 0.00001
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn) rs1338772800 0.00001
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala) rs769813952 0.00001
NM_018136.5(ASPM):c.5967G>A (p.Lys1989=) rs886045770 0.00001
NM_018136.5(ASPM):c.59C>T (p.Pro20Leu) rs587783252 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu) rs774901339 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.7062T>C (p.Tyr2354=) rs587783261 0.00001
NM_018136.5(ASPM):c.7347T>G (p.His2449Gln) rs1183596520 0.00001
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln) rs751584273 0.00001
NM_018136.5(ASPM):c.7878G>A (p.Gln2626=) rs757860001 0.00001
NM_018136.5(ASPM):c.8142A>C (p.Ala2714=) rs765601630 0.00001
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val) rs140656421 0.00001
NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser) rs966129910 0.00001
NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn) rs886045762 0.00001
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His) rs776868381 0.00001
NM_018136.5(ASPM):c.8892G>T (p.Trp2964Cys) rs201285805 0.00001
NM_018136.5(ASPM):c.898C>G (p.Pro300Ala) rs200453432 0.00001
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00001
NM_018136.5(ASPM):c.9320G>A (p.Arg3107Gln) rs587783290 0.00001
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His) rs201362977 0.00001
NM_018249.6(CDK5RAP2):c.*211C>G rs1052092231 0.00001
NM_018249.6(CDK5RAP2):c.108T>C (p.Asn36=) rs760045017 0.00001
NM_018249.6(CDK5RAP2):c.1094G>A (p.Gly365Glu) rs370145364 0.00001
NM_018249.6(CDK5RAP2):c.1433T>C (p.Val478Ala) rs587783382 0.00001
NM_018249.6(CDK5RAP2):c.1454G>T (p.Ser485Ile) rs1245240153 0.00001
NM_018249.6(CDK5RAP2):c.1627-18G>T rs762782636 0.00001
NM_018249.6(CDK5RAP2):c.2050A>G (p.Met684Val) rs146216763 0.00001
NM_018249.6(CDK5RAP2):c.2546T>C (p.Leu849Pro) rs372113501 0.00001
NM_018249.6(CDK5RAP2):c.2571A>G (p.Leu857=) rs562717417 0.00001
NM_018249.6(CDK5RAP2):c.2573T>G (p.Val858Gly) rs771627748 0.00001
NM_018249.6(CDK5RAP2):c.4556A>G (p.Asn1519Ser) rs747762605 0.00001
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.506A>C (p.Lys169Thr) rs535816514 0.00001
NM_018249.6(CDK5RAP2):c.5141C>T (p.Thr1714Ile) rs1399085671 0.00001
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe) rs545543130 0.00001
NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu) rs568558844 0.00001
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) rs35199933 0.00001
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg) rs1414536488 0.00001
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser) rs1389450136 0.00001
NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu) rs1176487325 0.00001
NM_018319.3(TDP1):c.-278C>T rs886050880 0.00001
NM_018319.4(TDP1):c.*1239T>C rs1387359215 0.00001
NM_018319.4(TDP1):c.*1367A>G rs1462755052 0.00001
NM_018319.4(TDP1):c.*774G>A rs372910082 0.00001
NM_018319.4(TDP1):c.-38G>A rs1037056557 0.00001
NM_018319.4(TDP1):c.643T>C (p.Tyr215His) rs754702237 0.00001
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) rs1428279795 0.00001
NM_018319.4(TDP1):c.84A>G (p.Pro28=) rs1596498067 0.00001
NM_018319.4(TDP1):c.896del (p.Ser299fs) rs773960264 0.00001
NM_018389.5(SLC35C1):c.*1419A>G rs2085964667 0.00001
NM_018389.5(SLC35C1):c.*1543C>G rs766558309 0.00001
NM_018389.5(SLC35C1):c.*1647T>C rs886048323 0.00001
NM_018389.5(SLC35C1):c.*542A>T rs538005835 0.00001
NM_018389.5(SLC35C1):c.*72G>A rs528884213 0.00001
NM_018389.5(SLC35C1):c.-287C>G rs974599944 0.00001
NM_018389.5(SLC35C1):c.-312T>C rs886048312 0.00001
NM_018389.5(SLC35C1):c.-393C>T rs886048311 0.00001
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile) rs768592798 0.00001
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly) rs759504632 0.00001
NM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp) rs764451718 0.00001
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) rs771587118 0.00001
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) rs767671094 0.00001
NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val) rs1184839008 0.00001
NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr) rs760741388 0.00001
NM_018389.5(SLC35C1):c.356C>A (p.Pro119His) rs1249225084 0.00001
NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser) rs1183848479 0.00001
NM_018389.5(SLC35C1):c.412G>A (p.Val138Ile) rs1235114730 0.00001
NM_018389.5(SLC35C1):c.433G>A (p.Val145Met) rs751986448 0.00001
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His) rs886048314 0.00001
NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg) rs752325595 0.00001
NM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu) rs766191758 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr) rs747660149 0.00001
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met) rs748793953 0.00001
NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr) rs1395133658 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser) rs1410328784 0.00001
NM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu) rs372897536 0.00001
NM_018389.5(SLC35C1):c.902C>T (p.Thr301Met) rs770499899 0.00001
NM_018389.5(SLC35C1):c.974C>T (p.Thr325Met) rs753103441 0.00001
NM_018389.5(SLC35C1):c.983T>C (p.Met328Thr) rs764394629 0.00001
NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser) rs757642463 0.00001
NM_018451.5(CENPJ):c.*124G>A rs886050097 0.00001
NM_018451.5(CENPJ):c.*292A>T rs886050095 0.00001
NM_018451.5(CENPJ):c.1248T>C (p.Asp416=) rs542731735 0.00001
NM_018451.5(CENPJ):c.2429A>T (p.Asp810Val) rs1021045841 0.00001
NM_018451.5(CENPJ):c.3105C>T (p.Asn1035=) rs769070143 0.00001
NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys) rs751422006 0.00001
NM_018451.5(CENPJ):c.3350A>G (p.Asn1117Ser) rs768507623 0.00001
NM_018451.5(CENPJ):c.3367-4A>G rs587783409 0.00001
NM_018451.5(CENPJ):c.3654G>A (p.Thr1218=) rs765299653 0.00001
NM_018451.5(CENPJ):c.3737C>T (p.Thr1246Met) rs767833776 0.00001
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_018451.5(CENPJ):c.504A>G (p.Leu168=) rs886050101 0.00001
NM_018451.5(CENPJ):c.650G>A (p.Cys217Tyr) rs587783412 0.00001
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_018699.4(PRDM5):c.650+7A>G rs751182540 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018718.3(CEP41):c.*1205G>T rs1554415397 0.00001
NM_018718.3(CEP41):c.*1766T>C rs1211217706 0.00001
NM_018718.3(CEP41):c.*2159C>T rs886061995 0.00001
NM_018718.3(CEP41):c.*2709G>A rs1342689782 0.00001
NM_018718.3(CEP41):c.*4505G>T rs1554413676 0.00001
NM_018718.3(CEP41):c.*4994T>C rs527933839 0.00001
NM_018718.3(CEP41):c.*55G>A rs782471506 0.00001
NM_018718.3(CEP41):c.*832A>C rs1554415585 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln) rs782089459 0.00001
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser) rs782590600 0.00001
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val) rs781832103 0.00001
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro) rs587780311 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018718.3(CEP41):c.145+3A>G rs782008140 0.00001
NM_018718.3(CEP41):c.145+5G>A rs1413177096 0.00001
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu) rs1554419921 0.00001
NM_018718.3(CEP41):c.164A>T (p.Asp55Val) rs782776244 0.00001
NM_018718.3(CEP41):c.200C>T (p.Ala67Val) rs782426353 0.00001
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly) rs1554417870 0.00001
NM_018718.3(CEP41):c.308C>T (p.Ala103Val) rs369687508 0.00001
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621 0.00001
NM_018718.3(CEP41):c.565A>G (p.Ile189Val) rs782591147 0.00001
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys) rs782466306 0.00001
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys) rs1554416667 0.00001
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu) rs782815662 0.00001
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp) rs782729874 0.00001
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys) rs782435349 0.00001
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_018965.3(TREM2):c.-51G>A rs3747741 0.00001
NM_018965.4(TREM2):c.*111A>G rs753777378 0.00001
NM_018965.4(TREM2):c.*157G>A rs1232354245 0.00001
NM_018965.4(TREM2):c.115G>A (p.Asp39Asn) rs764816591 0.00001
NM_018965.4(TREM2):c.482+7C>T rs746496916 0.00001
NM_018972.2(GDAP1):c.*2542A>G rs909463010 0.00001
NM_018972.2(GDAP1):c.*2702T>C rs1809669202 0.00001
NM_018972.4(GDAP1):c.*1289T>C rs1439179536 0.00001
NM_018972.4(GDAP1):c.*1527G>A rs886063113 0.00001
NM_018972.4(GDAP1):c.*1923C>T rs886063116 0.00001
NM_018972.4(GDAP1):c.*195T>C rs1201095819 0.00001
NM_018972.4(GDAP1):c.*1968C>T rs567166158 0.00001
NM_018972.4(GDAP1):c.*1976C>T rs527937918 0.00001
NM_018972.4(GDAP1):c.*2125A>C rs1231558825 0.00001
NM_018972.4(GDAP1):c.*926C>A rs1487448268 0.00001
NM_018972.4(GDAP1):c.*961G>C rs886063110 0.00001
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085 0.00001
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249 0.00001
NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg) rs960211384 0.00001
NM_018972.4(GDAP1):c.153C>T (p.Cys51=) rs1413222465 0.00001
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924 0.00001
NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu) rs775739690 0.00001
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936 0.00001
NM_018972.4(GDAP1):c.400G>T (p.Asp134Tyr) rs1809295867 0.00001
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292 0.00001
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.484+4T>C rs1318164702 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 0.00001
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) rs1362886530 0.00001
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) rs1475695228 0.00001
NM_018972.4(GDAP1):c.577A>C (p.Lys193Gln) rs1085307665 0.00001
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259 0.00001
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054 0.00001
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu) rs1443360585 0.00001
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868 0.00001
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) rs1026680509 0.00001
NM_018972.4(GDAP1):c.695-9T>A rs906225606 0.00001
NM_018972.4(GDAP1):c.70G>T (p.Val24Phe) rs1406620213 0.00001
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750 0.00001
NM_018972.4(GDAP1):c.745G>A (p.Val249Ile) rs753181104 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_018972.4(GDAP1):c.874G>A (p.Val292Ile) rs767553697 0.00001
NM_018972.4(GDAP1):c.892A>C (p.Asn298His) rs1470584902 0.00001
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667 0.00001
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) rs1356175561 0.00001
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) rs879254196 0.00001
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) rs776610158 0.00001
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) rs1298917573 0.00001
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) rs1458799973 0.00001
NM_020232.5(PSMG2):c.582-1G>A rs763788988 0.00001
NM_020247.5(COQ8A):c.*150C>T rs755137919 0.00001
NM_020247.5(COQ8A):c.*184G>C rs548257684 0.00001
NM_020247.5(COQ8A):c.*22C>T rs374941896 0.00001
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) rs750053661 0.00001
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=) rs201337210 0.00001
NM_020247.5(COQ8A):c.1659+14C>T rs1444332878 0.00001
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=) rs7545723 0.00001
NM_020247.5(COQ8A):c.297C>T (p.Pro99=) rs543084403 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala) rs760349295 0.00001
NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys) rs774285913 0.00001
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702 0.00001
NM_020347.4(LZTFL1):c.701A>G (p.Lys234Arg) rs777788515 0.00001
NM_020347.4(LZTFL1):c.766A>G (p.Met256Val) rs768813044 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_020458.4(TTC7A):c.1001+3A>G rs1312976035 0.00001
NM_020458.4(TTC7A):c.1007A>C (p.Tyr336Ser) rs1250983100 0.00001
NM_020458.4(TTC7A):c.1012C>G (p.Pro338Ala) rs542818351 0.00001
NM_020458.4(TTC7A):c.101G>A (p.Arg34Gln) rs1156510458 0.00001
NM_020458.4(TTC7A):c.1042C>G (p.Leu348Val) rs374367961 0.00001
NM_020458.4(TTC7A):c.1063A>G (p.Met355Val) rs368018528 0.00001
NM_020458.4(TTC7A):c.1090C>T (p.Arg364Trp) rs746226404 0.00001
NM_020458.4(TTC7A):c.1097C>T (p.Pro366Leu) rs772539826 0.00001
NM_020458.4(TTC7A):c.1141G>A (p.Ala381Thr) rs751523740 0.00001
NM_020458.4(TTC7A):c.1144A>G (p.Ile382Val) rs757541124 0.00001
NM_020458.4(TTC7A):c.1190T>A (p.Val397Asp) rs374669143 0.00001
NM_020458.4(TTC7A):c.1214G>A (p.Arg405Gln) rs768367263 0.00001
NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala) rs865919847 0.00001
NM_020458.4(TTC7A):c.1313G>A (p.Arg438Gln) rs745944262 0.00001
NM_020458.4(TTC7A):c.1330C>T (p.Arg444Trp) rs763226871 0.00001
NM_020458.4(TTC7A):c.1382C>T (p.Ser461Phe) rs142490773 0.00001
NM_020458.4(TTC7A):c.1392+3G>A rs1299979956 0.00001
NM_020458.4(TTC7A):c.1426A>G (p.Ile476Val) rs966188725 0.00001
NM_020458.4(TTC7A):c.1429A>T (p.Ser477Cys) rs372476224 0.00001
NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly) rs557981380 0.00001
NM_020458.4(TTC7A):c.148G>C (p.Gly50Arg) rs1288910906 0.00001
NM_020458.4(TTC7A):c.1568+3G>A rs767713361 0.00001
NM_020458.4(TTC7A):c.1577A>G (p.Gln526Arg) rs113327144 0.00001
NM_020458.4(TTC7A):c.1583C>T (p.Ala528Val) rs745524400 0.00001
NM_020458.4(TTC7A):c.1589G>A (p.Ser530Asn) rs1679634989 0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.1642-4A>G rs1488211803 0.00001
NM_020458.4(TTC7A):c.1651G>T (p.Ala551Ser) rs752527109 0.00001
NM_020458.4(TTC7A):c.1699C>T (p.His567Tyr) rs1301420520 0.00001
NM_020458.4(TTC7A):c.1844G>T (p.Gly615Val) rs1322909698 0.00001
NM_020458.4(TTC7A):c.1915C>G (p.Leu639Val) rs144998751 0.00001
NM_020458.4(TTC7A):c.1919+869C>T rs1230826905 0.00001
NM_020458.4(TTC7A):c.1945G>A (p.Gly649Ser) rs751063430 0.00001
NM_020458.4(TTC7A):c.1960A>G (p.Met654Val) rs750008360 0.00001
NM_020458.4(TTC7A):c.2000C>T (p.Ala667Val) rs561491427 0.00001
NM_020458.4(TTC7A):c.2021C>T (p.Ser674Phe) rs1407425017 0.00001
NM_020458.4(TTC7A):c.2023C>T (p.Arg675Trp) rs767059858 0.00001
NM_020458.4(TTC7A):c.2044G>A (p.Ala682Thr) rs559596886 0.00001
NM_020458.4(TTC7A):c.2067G>A (p.Met689Ile) rs1387193729 0.00001
NM_020458.4(TTC7A):c.2081T>C (p.Met694Thr) rs368507641 0.00001
NM_020458.4(TTC7A):c.2087C>T (p.Ser696Phe) rs758407638 0.00001
NM_020458.4(TTC7A):c.2105G>A (p.Gly702Asp) rs780527277 0.00001
NM_020458.4(TTC7A):c.2165T>C (p.Met722Thr) rs1359515935 0.00001
NM_020458.4(TTC7A):c.2245T>C (p.Tyr749His) rs1315222428 0.00001
NM_020458.4(TTC7A):c.2251C>T (p.Arg751Trp) rs531344750 0.00001
NM_020458.4(TTC7A):c.2257C>T (p.Arg753Trp) rs747509395 0.00001
NM_020458.4(TTC7A):c.2294A>C (p.Lys765Thr) rs1209150485 0.00001
NM_020458.4(TTC7A):c.2312C>T (p.Ala771Val) rs538380438 0.00001
NM_020458.4(TTC7A):c.2339G>A (p.Arg780His) rs746784091 0.00001
NM_020458.4(TTC7A):c.2372G>A (p.Arg791Gln) rs763453786 0.00001
NM_020458.4(TTC7A):c.2416G>A (p.Val806Met) rs777208348 0.00001
NM_020458.4(TTC7A):c.2426A>G (p.Gln809Arg) rs1406499363 0.00001
NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser) rs779096998 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr) rs202044972 0.00001
NM_020458.4(TTC7A):c.2534G>A (p.Ser845Asn) rs1334106336 0.00001
NM_020458.4(TTC7A):c.2560A>G (p.Ile854Val) rs1412412264 0.00001
NM_020458.4(TTC7A):c.2564C>G (p.Pro855Arg) rs750794132 0.00001
NM_020458.4(TTC7A):c.2566A>G (p.Arg856Gly) rs1426525943 0.00001
NM_020458.4(TTC7A):c.266T>A (p.Met89Lys) rs755771170 0.00001
NM_020458.4(TTC7A):c.275T>C (p.Leu92Pro) rs1462879647 0.00001
NM_020458.4(TTC7A):c.308A>G (p.Lys103Arg) rs1385338357 0.00001
NM_020458.4(TTC7A):c.336T>G (p.His112Gln) rs750006009 0.00001
NM_020458.4(TTC7A):c.348+4A>G rs1417579293 0.00001
NM_020458.4(TTC7A):c.397G>A (p.Val133Met) rs749546800 0.00001
NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp) rs138592761 0.00001
NM_020458.4(TTC7A):c.442G>A (p.Gly148Arg) rs200447823 0.00001
NM_020458.4(TTC7A):c.44G>C (p.Ser15Thr) rs550715352 0.00001
NM_020458.4(TTC7A):c.460A>G (p.Met154Val) rs778183105 0.00001
NM_020458.4(TTC7A):c.473C>A (p.Pro158His) rs1242924176 0.00001
NM_020458.4(TTC7A):c.487C>T (p.Arg163Trp) rs767380906 0.00001
NM_020458.4(TTC7A):c.518G>A (p.Gly173Asp) rs1283566399 0.00001
NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln) rs1177931649 0.00001
NM_020458.4(TTC7A):c.569C>T (p.Thr190Ile) rs761142818 0.00001
NM_020458.4(TTC7A):c.607G>A (p.Ala203Thr) rs767203972 0.00001
NM_020458.4(TTC7A):c.61C>G (p.Arg21Gly) rs1315722693 0.00001
NM_020458.4(TTC7A):c.624G>T (p.Gln208His) rs748288040 0.00001
NM_020458.4(TTC7A):c.650C>A (p.Thr217Asn) rs372046395 0.00001
NM_020458.4(TTC7A):c.665C>T (p.Thr222Met) rs759227495 0.00001
NM_020458.4(TTC7A):c.701A>G (p.Tyr234Cys) rs749650681 0.00001
NM_020458.4(TTC7A):c.739G>A (p.Ala247Thr) rs752603355 0.00001
NM_020458.4(TTC7A):c.73C>T (p.His25Tyr) rs910842442 0.00001
NM_020458.4(TTC7A):c.781A>G (p.Met261Val) rs745417467 0.00001
NM_020458.4(TTC7A):c.837C>A (p.Phe279Leu) rs760569935 0.00001
NM_020458.4(TTC7A):c.841G>C (p.Val281Leu) rs147514908 0.00001
NM_020458.4(TTC7A):c.854A>G (p.Lys285Arg) rs1178621550 0.00001
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) rs1198449310 0.00001
NM_020458.4(TTC7A):c.985C>T (p.Leu329Phe) rs1191771886 0.00001
NM_020458.4(TTC7A):c.995G>A (p.Gly332Glu) rs1171967462 0.00001
NM_020631.5(PLEKHG5):c.*1016A>G rs886046488 0.00001
NM_020631.5(PLEKHG5):c.*1374C>T rs1004946332 0.00001
NM_020631.5(PLEKHG5):c.*775T>G rs886046492 0.00001
NM_020631.6(PLEKHG5):c.*192G>A rs886046495 0.00001
NM_020631.6(PLEKHG5):c.*236G>A rs1308834107 0.00001
NM_020631.6(PLEKHG5):c.-66C>T rs755086442 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln) rs61743372 0.00001
NM_020631.6(PLEKHG5):c.1081-3C>T rs772519809 0.00001
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406 0.00001
NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn) rs372434052 0.00001
NM_020631.6(PLEKHG5):c.1131+5G>T rs1293986972 0.00001
NM_020631.6(PLEKHG5):c.1139C>T (p.Ala380Val) rs374286001 0.00001
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly) rs1327802744 0.00001
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly) rs1644589733 0.00001
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg) rs755513110 0.00001
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys) rs1271841187 0.00001
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe) rs779799130 0.00001
NM_020631.6(PLEKHG5):c.1267A>G (p.Lys423Glu) rs1297083613 0.00001
NM_020631.6(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495 0.00001
NM_020631.6(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030 0.00001
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118 0.00001
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys) rs200086651 0.00001
NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met) rs777612808 0.00001
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450 0.00001
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala) rs1180280762 0.00001
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly) rs1382976948 0.00001
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815 0.00001
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg) rs779791612 0.00001
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg) rs768323924 0.00001
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745 0.00001
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654 0.00001
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965 0.00001
NM_020631.6(PLEKHG5):c.1558C>T (p.Arg520Cys) rs999436825 0.00001
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln) rs1022969911 0.00001
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047 0.00001
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln) rs752167528 0.00001
NM_020631.6(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026 0.00001
NM_020631.6(PLEKHG5):c.1681-3C>T rs370601982 0.00001
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690 0.00001
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys) rs765998625 0.00001
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala) rs781318885 0.00001
NM_020631.6(PLEKHG5):c.1933+4A>G rs754759840 0.00001
NM_020631.6(PLEKHG5):c.1934-4C>G rs951050550 0.00001
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala) rs749072819 0.00001
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp) rs1644501019 0.00001
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile) rs779425195 0.00001
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser) rs936501984 0.00001
NM_020631.6(PLEKHG5):c.211-3C>T rs754653668 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_020631.6(PLEKHG5):c.22C>T (p.Arg8Cys) rs754002297 0.00001
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772 0.00001
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser) rs768087057 0.00001
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His) rs779969203 0.00001
NM_020631.6(PLEKHG5):c.2411C>T (p.Pro804Leu) rs1400722803 0.00001
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser) rs1175956588 0.00001
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045 0.00001
NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237 0.00001
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935 0.00001
NM_020631.6(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys) rs557256913 0.00001
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe) rs756639742 0.00001
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn) rs769702301 0.00001
NM_020631.6(PLEKHG5):c.2683C>G (p.Pro895Ala) rs753662166 0.00001
NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016 0.00001
NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513 0.00001
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe) rs993754184 0.00001
NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760 0.00001
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg) rs1407992685 0.00001
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu) rs1436307319 0.00001
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr) rs1404826523 0.00001
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg) rs755699992 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651 0.00001
NM_020631.6(PLEKHG5):c.292A>G (p.Lys98Glu) rs770771316 0.00001
NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val) rs150133974 0.00001
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter) rs772171318 0.00001
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) rs762876171 0.00001
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val) rs1360003341 0.00001
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380 0.00001
NM_020631.6(PLEKHG5):c.3011+3G>A rs929173295 0.00001
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys) rs768676402 0.00001
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) rs762546636 0.00001
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg) rs371931309 0.00001
NM_020631.6(PLEKHG5):c.47C>G (p.Ser16Cys) rs201090415 0.00001
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu) rs1644685170 0.00001
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala) rs531190324 0.00001
NM_020631.6(PLEKHG5):c.538C>T (p.Pro180Ser) rs752485682 0.00001
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys) rs760118221 0.00001
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp) rs776026198 0.00001
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His) rs939508255 0.00001
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg) rs1428031986 0.00001
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg) rs1253304988 0.00001
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320 0.00001
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala) rs1348491680 0.00001
NM_020631.6(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543 0.00001
NM_020631.6(PLEKHG5):c.746G>A (p.Arg249His) rs1172862216 0.00001
NM_020631.6(PLEKHG5):c.835A>G (p.Thr279Ala) rs376817987 0.00001
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg) rs569434019 0.00001
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu) rs998963899 0.00001
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103 0.00001
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val) rs1356599252 0.00001
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470 0.00001
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly) rs145340974 0.00001
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys) rs148745591 0.00001
NM_020631.6(PLEKHG5):c.931A>C (p.Asn311His) rs146020517 0.00001
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr) rs763262703 0.00001
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp) rs761456870 0.00001
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln) rs769390222 0.00001
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) rs370116072 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368 0.00001
NM_020632.3(ATP6V0A4):c.1876G>T (p.Asp626Tyr) rs201399022 0.00001
NM_020632.3(ATP6V0A4):c.2429+15C>G rs375581031 0.00001
NM_020632.3(ATP6V0A4):c.292-3T>A rs370441093 0.00001
NM_020632.3(ATP6V0A4):c.954G>A (p.Gln318=) rs1806293958 0.00001
NM_020661.4(AICDA):c.*1025G>A rs1941216576 0.00001
NM_020661.4(AICDA):c.-87A>T rs1941389378 0.00001
NM_020661.4(AICDA):c.106C>T (p.Arg36Cys) rs200228627 0.00001
NM_020661.4(AICDA):c.148C>T (p.Arg50Cys) rs370700027 0.00001
NM_020661.4(AICDA):c.190T>C (p.Tyr64His) rs944982893 0.00001
NM_020661.4(AICDA):c.21C>A (p.Asn7Lys) rs901889062 0.00001
NM_020661.4(AICDA):c.284C>T (p.Ala95Val) rs780274954 0.00001
NM_020661.4(AICDA):c.29A>G (p.Lys10Arg) rs768249578 0.00001
NM_020661.4(AICDA):c.322A>C (p.Ile108Leu) rs368645130 0.00001
NM_020661.4(AICDA):c.329C>G (p.Thr110Ser) rs762487797 0.00001
NM_020661.4(AICDA):c.355C>T (p.Arg119Cys) rs760513969 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.533G>C (p.Arg178Pro) rs1174012304 0.00001
NM_020661.4(AICDA):c.82T>C (p.Tyr28His) rs199697153 0.00001
NM_020751.3(COG6):c.1009+6T>C rs752382409 0.00001
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser) rs756614480 0.00001
NM_020751.3(COG6):c.697G>A (p.Glu233Lys) rs745501973 0.00001
NM_020751.3(COG6):c.868C>T (p.Pro290Ser) rs748959066 0.00001
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys) rs754624882 0.00001
NM_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2288C>T rs886055398 0.00001
NM_020779.4(WDR35):c.*2725G>T rs886055396 0.00001
NM_020779.4(WDR35):c.*2726A>G rs886055395 0.00001
NM_020779.4(WDR35):c.*2748G>T rs886055394 0.00001
NM_020779.4(WDR35):c.*380G>A rs886055401 0.00001
NM_020779.4(WDR35):c.*747C>T rs1451842817 0.00001
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met) rs200341288 0.00001
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561 0.00001
NM_020779.4(WDR35):c.1104A>G (p.Lys368=) rs745634789 0.00001
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr) rs780584500 0.00001
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala) rs1371644144 0.00001
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val) rs1671332812 0.00001
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) rs771656961 0.00001
NM_020779.4(WDR35):c.1470+6T>C rs1162916086 0.00001
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val) rs398123536 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln) rs750367225 0.00001
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) rs758991146 0.00001
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) rs748476979 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2267+9T>C rs376307803 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) rs1287745296 0.00001
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser) rs777217654 0.00001
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly) rs199849430 0.00001
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) rs370706293 0.00001
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp) rs149815363 0.00001
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln) rs754997630 0.00001
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr) rs776936691 0.00001
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) rs886055406 0.00001
NM_020779.4(WDR35):c.3122-3T>C rs751769266 0.00001
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr) rs759338583 0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_020779.4(WDR35):c.485T>C (p.Val162Ala) rs754439440 0.00001
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu) rs1410550467 0.00001
NM_020779.4(WDR35):c.722A>G (p.His241Arg) rs138366348 0.00001
NM_020779.4(WDR35):c.847G>A (p.Val283Met) rs576085633 0.00001
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) rs1438742194 0.00001
NM_020964.3(EPG5):c.103A>G (p.Ser35Gly) rs746311646 0.00001
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val) rs968213343 0.00001
NM_020964.3(EPG5):c.1312G>A (p.Val438Ile) rs750946464 0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679 0.00001
NM_020964.3(EPG5):c.1688C>T (p.Pro563Leu) rs1026189696 0.00001
NM_020964.3(EPG5):c.1694C>T (p.Thr565Ile) rs750054758 0.00001
NM_020964.3(EPG5):c.1713T>A (p.Asn571Lys) rs1364153002 0.00001
NM_020964.3(EPG5):c.1873G>T (p.Ala625Ser) rs757958571 0.00001
NM_020964.3(EPG5):c.1904G>A (p.Arg635His) rs761134702 0.00001
NM_020964.3(EPG5):c.1936A>G (p.Met646Val) rs745736928 0.00001
NM_020964.3(EPG5):c.1937T>C (p.Met646Thr) rs776655554 0.00001
NM_020964.3(EPG5):c.1940T>G (p.Ile647Ser) rs770599313 0.00001
NM_020964.3(EPG5):c.1949C>T (p.Thr650Ile) rs1342520686 0.00001
NM_020964.3(EPG5):c.2082T>A (p.His694Gln) rs929769017 0.00001
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val) rs769257326 0.00001
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp) rs950420567 0.00001
NM_020964.3(EPG5):c.2188G>C (p.Val730Leu) rs376495076 0.00001
NM_020964.3(EPG5):c.2193G>C (p.Glu731Asp) rs1218574370 0.00001
NM_020964.3(EPG5):c.2261C>G (p.Pro754Arg) rs1163010781 0.00001
NM_020964.3(EPG5):c.2348C>T (p.Ala783Val) rs1330678250 0.00001
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342 0.00001
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His) rs762353654 0.00001
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser) rs1436830345 0.00001
NM_020964.3(EPG5):c.2443A>T (p.Thr815Ser) rs944929737 0.00001
NM_020964.3(EPG5):c.2494C>G (p.Pro832Ala) rs779658335 0.00001
NM_020964.3(EPG5):c.2509G>A (p.Val837Ile) rs374638575 0.00001
NM_020964.3(EPG5):c.2522G>C (p.Arg841Thr) rs934919689 0.00001
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser) rs368321414 0.00001
NM_020964.3(EPG5):c.2626C>T (p.Arg876Trp) rs755283620 0.00001
NM_020964.3(EPG5):c.270A>G (p.Ile90Met) rs374098492 0.00001
NM_020964.3(EPG5):c.2776G>A (p.Ala926Thr) rs371695724 0.00001
NM_020964.3(EPG5):c.2845T>C (p.Tyr949His) rs750349437 0.00001
NM_020964.3(EPG5):c.2898A>G (p.Gln966=) rs777041802 0.00001
NM_020964.3(EPG5):c.2954A>G (p.Gln985Arg) rs1212093839 0.00001
NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala) rs755139046 0.00001
NM_020964.3(EPG5):c.2957C>T (p.Pro986Leu) rs1301596513 0.00001
NM_020964.3(EPG5):c.2960A>G (p.Asn987Ser) rs1253995415 0.00001
NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val) rs1135402736 0.00001
NM_020964.3(EPG5):c.3048C>T (p.Gly1016=) rs554642077 0.00001
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324 0.00001
NM_020964.3(EPG5):c.3176A>G (p.His1059Arg) rs936848208 0.00001
NM_020964.3(EPG5):c.3220T>C (p.Tyr1074His) rs369286199 0.00001
NM_020964.3(EPG5):c.3384+3G>A rs1235955647 0.00001
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu) rs1196176370 0.00001
NM_020964.3(EPG5):c.3410C>T (p.Pro1137Leu) rs2050027099 0.00001
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile) rs771510931 0.00001
NM_020964.3(EPG5):c.3487C>A (p.Gln1163Lys) rs759405296 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_020964.3(EPG5):c.3598C>T (p.His1200Tyr) rs758515302 0.00001
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn) rs571987859 0.00001
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val) rs546759895 0.00001
NM_020964.3(EPG5):c.3686C>A (p.Pro1229His) rs778094374 0.00001
NM_020964.3(EPG5):c.3689C>T (p.Thr1230Ile) rs772294581 0.00001
NM_020964.3(EPG5):c.3755G>A (p.Arg1252Gln) rs186446511 0.00001
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly) rs766928627 0.00001
NM_020964.3(EPG5):c.3807A>G (p.Gln1269=) rs897520700 0.00001
NM_020964.3(EPG5):c.380A>G (p.Asn127Ser) rs1027702347 0.00001
NM_020964.3(EPG5):c.3847G>A (p.Val1283Met) rs377030279 0.00001
NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe) rs779751217 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4040A>G (p.Asn1347Ser) rs371508723 0.00001
NM_020964.3(EPG5):c.4094C>G (p.Ala1365Gly) rs2049870260 0.00001
NM_020964.3(EPG5):c.4111C>T (p.Arg1371Cys) rs368438786 0.00001
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu) rs543543733 0.00001
NM_020964.3(EPG5):c.430A>G (p.Asn144Asp) rs775702849 0.00001
NM_020964.3(EPG5):c.4496A>C (p.Asn1499Thr) rs748874666 0.00001
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met) rs201986809 0.00001
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser) rs369136227 0.00001
NM_020964.3(EPG5):c.460A>G (p.Ser154Gly) rs758319070 0.00001
NM_020964.3(EPG5):c.4654G>A (p.Ala1552Thr) rs372801548 0.00001
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys) rs780030419 0.00001
NM_020964.3(EPG5):c.4679C>A (p.Ala1560Asp) rs1227873728 0.00001
NM_020964.3(EPG5):c.4705A>G (p.Met1569Val) rs568568831 0.00001
NM_020964.3(EPG5):c.4726C>T (p.Arg1576Cys) rs1261427390 0.00001
NM_020964.3(EPG5):c.4738A>G (p.Thr1580Ala) rs553484474 0.00001
NM_020964.3(EPG5):c.4916T>A (p.Ile1639Asn) rs375030392 0.00001
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu) rs375606930 0.00001
NM_020964.3(EPG5):c.5087C>T (p.Ser1696Leu) rs766622192 0.00001
NM_020964.3(EPG5):c.533G>A (p.Ser178Asn) rs1202088395 0.00001
NM_020964.3(EPG5):c.5359A>G (p.Arg1787Gly) rs750395264 0.00001
NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys) rs777698208 0.00001
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser) rs758263741 0.00001
NM_020964.3(EPG5):c.5603G>A (p.Gly1868Glu) rs751998000 0.00001
NM_020964.3(EPG5):c.5674G>C (p.Glu1892Gln) rs773270236 0.00001
NM_020964.3(EPG5):c.5762G>A (p.Ser1921Asn) rs977677513 0.00001
NM_020964.3(EPG5):c.5953C>T (p.Arg1985Trp) rs146306069 0.00001
NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly) rs375057925 0.00001
NM_020964.3(EPG5):c.6116C>T (p.Thr2039Ile) rs768999379 0.00001
NM_020964.3(EPG5):c.611A>G (p.Lys204Arg) rs749123170 0.00001
NM_020964.3(EPG5):c.6235G>A (p.Gly2079Arg) rs191824898 0.00001
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu) rs769470632 0.00001
NM_020964.3(EPG5):c.6299T>G (p.Val2100Gly) rs201980410 0.00001
NM_020964.3(EPG5):c.641A>G (p.Lys214Arg) rs571324055 0.00001
NM_020964.3(EPG5):c.6535G>A (p.Ala2179Thr) rs1245545639 0.00001
NM_020964.3(EPG5):c.654G>T (p.Gln218His) rs753111853 0.00001
NM_020964.3(EPG5):c.6743A>G (p.Asp2248Gly) rs1440725586 0.00001
NM_020964.3(EPG5):c.676G>A (p.Glu226Lys) rs776920434 0.00001
NM_020964.3(EPG5):c.6784C>T (p.Arg2262Cys) rs973783719 0.00001
NM_020964.3(EPG5):c.6816A>T (p.Glu2272Asp) rs766271900 0.00001
NM_020964.3(EPG5):c.6844A>G (p.Ile2282Val) rs781691565 0.00001
NM_020964.3(EPG5):c.6851C>G (p.Thr2284Arg) rs777908648 0.00001
NM_020964.3(EPG5):c.6887T>C (p.Ile2296Thr) rs921995592 0.00001
NM_020964.3(EPG5):c.6955G>A (p.Val2319Ile) rs199635841 0.00001
NM_020964.3(EPG5):c.6964A>G (p.Met2322Val) rs1257071280 0.00001
NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu) rs1283916552 0.00001
NM_020964.3(EPG5):c.7129G>A (p.Val2377Ile) rs748584845 0.00001
NM_020964.3(EPG5):c.712C>T (p.Arg238Cys) rs745445439 0.00001
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu) rs370270531 0.00001
NM_020964.3(EPG5):c.7170G>T (p.Arg2390Ser) rs1344860554 0.00001
NM_020964.3(EPG5):c.7174G>A (p.Glu2392Lys) rs1399290496 0.00001
NM_020964.3(EPG5):c.7199G>A (p.Ser2400Asn) rs1030476117 0.00001
NM_020964.3(EPG5):c.7217T>G (p.Val2406Gly) rs1489617016 0.00001
NM_020964.3(EPG5):c.7226+6T>C rs775743724 0.00001
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg) rs777351158 0.00001
NM_020964.3(EPG5):c.7312G>A (p.Val2438Ile) rs868233133 0.00001
NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu) rs370315826 0.00001
NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe) rs1447140985 0.00001
NM_020964.3(EPG5):c.752A>T (p.Glu251Val) rs764715323 0.00001
NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala) rs772963749 0.00001
NM_020964.3(EPG5):c.844A>G (p.Met282Val) rs1358436668 0.00001
NM_021252.5(RAB18):c.*1041A>G rs767104854 0.00001
NM_021252.5(RAB18):c.*1089C>A rs189434439 0.00001
NM_021252.5(RAB18):c.*1800A>G rs923872579 0.00001
NM_021252.5(RAB18):c.*2788C>T rs886046974 0.00001
NM_021252.5(RAB18):c.*3906G>A rs1473295756 0.00001
NM_021252.5(RAB18):c.*407G>T rs575299893 0.00001
NM_021252.5(RAB18):c.*560C>T rs1414516239 0.00001
NM_021252.5(RAB18):c.*62C>T rs886046969 0.00001
NM_021252.5(RAB18):c.*890G>A rs539207601 0.00001
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln) rs1203985321 0.00001
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) rs886046967 0.00001
NM_021252.5(RAB18):c.68+10A>G rs886046965 0.00001
NM_021628.3(ALOXE3):c.*669T>G rs886053580 0.00001
NM_021628.3(ALOXE3):c.-247G>A rs1052642860 0.00001
NM_021628.3(ALOXE3):c.-260G>A rs886053584 0.00001
NM_021628.3(ALOXE3):c.-266C>A rs886053585 0.00001
NM_021628.3(ALOXE3):c.-337G>T rs886053586 0.00001
NM_021628.3(ALOXE3):c.148-3C>G rs1276024055 0.00001
NM_021628.3(ALOXE3):c.1598G>A (p.Ser533Asn) rs147748799 0.00001
NM_021628.3(ALOXE3):c.1684+5C>T rs763167274 0.00001
NM_021628.3(ALOXE3):c.1710A>G (p.Pro570=) rs199731680 0.00001
NM_021628.3(ALOXE3):c.222C>T (p.Tyr74=) rs572527913 0.00001
NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys) rs1046226453 0.00001
NM_021628.3(ALOXE3):c.853G>A (p.Val285Ile) rs774243681 0.00001
NM_021628.3(ALOXE3):c.951G>A (p.Glu317=) rs1980066150 0.00001
NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser) rs577966759 0.00001
NM_021828.5(HPSE2):c.419C>G (p.Pro140Arg) rs967685128 0.00001
NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln) rs376543806 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_021942.6(TRAPPC11):c.1046A>G (p.Tyr349Cys) rs750711449 0.00001
NM_021942.6(TRAPPC11):c.1055A>G (p.Gln352Arg) rs780363437 0.00001
NM_021942.6(TRAPPC11):c.1085A>T (p.Gln362Leu) rs1321230724 0.00001
NM_021942.6(TRAPPC11):c.1162G>A (p.Val388Ile) rs925965846 0.00001
NM_021942.6(TRAPPC11):c.1193G>A (p.Arg398Gln) rs745588857 0.00001
NM_021942.6(TRAPPC11):c.1208G>A (p.Ser403Asn) rs761391260 0.00001
NM_021942.6(TRAPPC11):c.1349G>A (p.Arg450Gln) rs201387237 0.00001
NM_021942.6(TRAPPC11):c.1391A>G (p.Tyr464Cys) rs1258652109 0.00001
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr) rs756747035 0.00001
NM_021942.6(TRAPPC11):c.143G>A (p.Arg48Gln) rs1473309875 0.00001
NM_021942.6(TRAPPC11):c.1543T>C (p.Tyr515His) rs901204498 0.00001
NM_021942.6(TRAPPC11):c.1560T>A (p.Leu520=) rs1735883600 0.00001
NM_021942.6(TRAPPC11):c.1597C>T (p.Arg533Trp) rs775673359 0.00001
NM_021942.6(TRAPPC11):c.1661A>G (p.Asp554Gly) rs767252459 0.00001
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val) rs368529822 0.00001
NM_021942.6(TRAPPC11):c.1923A>C (p.Glu641Asp) rs772936022 0.00001
NM_021942.6(TRAPPC11):c.1943T>C (p.Val648Ala) rs1323103822 0.00001
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val) rs777107611 0.00001
NM_021942.6(TRAPPC11):c.2087G>A (p.Gly696Glu) rs775381679 0.00001
NM_021942.6(TRAPPC11):c.2095G>A (p.Val699Met) rs376585316 0.00001
NM_021942.6(TRAPPC11):c.2113G>A (p.Gly705Arg) rs763249909 0.00001
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu) rs774887816 0.00001
NM_021942.6(TRAPPC11):c.226A>G (p.Ile76Val) rs764982271 0.00001
NM_021942.6(TRAPPC11):c.2270A>G (p.His757Arg) rs528458079 0.00001
NM_021942.6(TRAPPC11):c.2306T>C (p.Met769Thr) rs1236250238 0.00001
NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr) rs1441521643 0.00001
NM_021942.6(TRAPPC11):c.2458C>T (p.Pro820Ser) rs767195120 0.00001
NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly) rs200068440 0.00001
NM_021942.6(TRAPPC11):c.248C>G (p.Thr83Ser) rs1024182354 0.00001
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His) rs781082721 0.00001
NM_021942.6(TRAPPC11):c.2560C>A (p.Leu854Ile) rs771646323 0.00001
NM_021942.6(TRAPPC11):c.2638G>T (p.Val880Leu) rs1370193464 0.00001
NM_021942.6(TRAPPC11):c.2672C>T (p.Ala891Val) rs764114529 0.00001
NM_021942.6(TRAPPC11):c.2678A>G (p.Lys893Arg) rs759008736 0.00001
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly) rs1398795151 0.00001
NM_021942.6(TRAPPC11):c.2710A>G (p.Arg904Gly) rs770747782 0.00001
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala) rs755600230 0.00001
NM_021942.6(TRAPPC11):c.2849A>G (p.Asn950Ser) rs202170132 0.00001
NM_021942.6(TRAPPC11):c.2926G>A (p.Gly976Arg) rs777141466 0.00001
NM_021942.6(TRAPPC11):c.2962A>G (p.Arg988Gly) rs1199947558 0.00001
NM_021942.6(TRAPPC11):c.3001G>A (p.Val1001Ile) rs758522491 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3055+5C>T rs763743260 0.00001
NM_021942.6(TRAPPC11):c.3055+6G>A rs373854277 0.00001
NM_021942.6(TRAPPC11):c.3067T>C (p.Phe1023Leu) rs749816064 0.00001
NM_021942.6(TRAPPC11):c.3104A>G (p.His1035Arg) rs762555782 0.00001
NM_021942.6(TRAPPC11):c.3185A>G (p.Lys1062Arg) rs551167738 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_021942.6(TRAPPC11):c.3189+4C>T rs964098072 0.00001
NM_021942.6(TRAPPC11):c.3199C>T (p.Arg1067Cys) rs374734783 0.00001
NM_021942.6(TRAPPC11):c.3228G>C (p.Met1076Ile) rs573030912 0.00001
NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser) rs898762603 0.00001
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser) rs1319124548 0.00001
NM_021942.6(TRAPPC11):c.3374T>C (p.Met1125Thr) rs778698690 0.00001
NM_021942.6(TRAPPC11):c.3377A>T (p.Asp1126Val) rs1737388498 0.00001
NM_021942.6(TRAPPC11):c.359G>A (p.Arg120Lys) rs367769488 0.00001
NM_021942.6(TRAPPC11):c.433C>G (p.Pro145Ala) rs747596215 0.00001
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln) rs368097747 0.00001
NM_021942.6(TRAPPC11):c.619G>A (p.Val207Met) rs201181808 0.00001
NM_021942.6(TRAPPC11):c.660+5G>A rs770891745 0.00001
NM_021942.6(TRAPPC11):c.743G>C (p.Arg248Thr) rs1441893342 0.00001
NM_021942.6(TRAPPC11):c.763C>T (p.His255Tyr) rs1237348034 0.00001
NM_021942.6(TRAPPC11):c.779A>G (p.His260Arg) rs764083534 0.00001
NM_021942.6(TRAPPC11):c.86A>G (p.Tyr29Cys) rs1734703097 0.00001
NM_021942.6(TRAPPC11):c.898G>A (p.Asp300Asn) rs138722849 0.00001
NM_021942.6(TRAPPC11):c.974C>A (p.Ala325Asp) rs775652273 0.00001
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu) rs560817419 0.00001
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro) rs1445731992 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala) rs1245162935 0.00001
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp) rs1272084445 0.00001
NM_021971.4(GMPPB):c.478G>A (p.Val160Met) rs752805529 0.00001
NM_021971.4(GMPPB):c.572C>T (p.Thr191Met) rs146287156 0.00001
NM_021971.4(GMPPB):c.578T>C (p.Ile193Thr) rs780301264 0.00001
NM_021971.4(GMPPB):c.596C>G (p.Pro199Arg) rs765573379 0.00001
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr) rs759137392 0.00001
NM_021971.4(GMPPB):c.70C>T (p.Pro24Ser) rs1310563727 0.00001
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln) rs749730219 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_021971.4(GMPPB):c.870G>A (p.Thr290=) rs778490288 0.00001
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) rs756682220 0.00001
NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys) rs762995747 0.00001
NM_021971.4(GMPPB):c.938G>A (p.Arg313His) rs775910135 0.00001
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys) rs1356812347 0.00001
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) rs756767909 0.00001
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile) rs1345269003 0.00001
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala) rs1236275703 0.00001
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) rs369738172 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro) rs778964823 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val) rs773341880 0.00001
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met) rs1326057817 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln) rs560095049 0.00001
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp) rs753825215 0.00001
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val) rs372254666 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His) rs1050384310 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1750-3C>T rs780246274 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala) rs975811918 0.00001
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu) rs746563424 0.00001
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe) rs779367060 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr) rs778267471 0.00001
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser) rs766354139 0.00001
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His) rs769622260 0.00001
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr) rs778404620 0.00001
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile) rs761490954 0.00001
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly) rs981910553 0.00001
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) rs865939676 0.00001
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp) rs751715295 0.00001
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val) rs1208175914 0.00001
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe) rs763004392 0.00001
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr) rs748986186 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu) rs774997717 0.00001
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln) rs781298587 0.00001
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg) rs765064192 0.00001
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe) rs1281682323 0.00001
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser) rs771014262 0.00001
NM_022089.4(ATP13A2):c.2859+5G>C rs1164759435 0.00001
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile) rs752784549 0.00001
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile) rs769445714 0.00001
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) rs150748722 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) rs750963832 0.00001
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr) rs1046254851 0.00001
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) rs764410859 0.00001
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val) rs747340052 0.00001
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg) rs375453342 0.00001
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys) rs757224113 0.00001
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr) rs756071133 0.00001
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His) rs971337693 0.00001
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) rs774920921 0.00001
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) rs1318096890 0.00001
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln) rs762570832 0.00001
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly) rs1333931944 0.00001
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val) rs1369312171 0.00001
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys) rs1323958366 0.00001
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met) rs773699589 0.00001
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr) rs771489150 0.00001
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) rs370403918 0.00001
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp) rs755969305 0.00001
NM_022098.4(XPNPEP3):c.*1996T>G rs1035521302 0.00001
NM_022098.4(XPNPEP3):c.*2627C>T rs886057527 0.00001
NM_022098.4(XPNPEP3):c.*2768T>C rs886057531 0.00001
NM_022098.4(XPNPEP3):c.*3706T>G rs2058249701 0.00001
NM_022098.4(XPNPEP3):c.*3973C>T rs1037261895 0.00001
NM_022098.4(XPNPEP3):c.*4260T>A rs886057542 0.00001
NM_022098.4(XPNPEP3):c.*4588A>G rs778774318 0.00001
NM_022098.4(XPNPEP3):c.*5641T>C rs530025506 0.00001
NM_022098.4(XPNPEP3):c.1085A>C (p.Glu362Ala) rs147185156 0.00001
NM_022098.4(XPNPEP3):c.112G>A (p.Glu38Lys) rs1471773793 0.00001
NM_022098.4(XPNPEP3):c.1236+9C>T rs778161054 0.00001
NM_022098.4(XPNPEP3):c.1259A>G (p.His420Arg) rs952458657 0.00001
NM_022098.4(XPNPEP3):c.218C>T (p.Ala73Val) rs747953049 0.00001
NM_022098.4(XPNPEP3):c.271A>G (p.Ser91Gly) rs761097517 0.00001
NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn) rs1017989325 0.00001
NM_022098.4(XPNPEP3):c.47A>T (p.Asn16Ile) rs893424638 0.00001
NM_022098.4(XPNPEP3):c.969+5G>A rs764558082 0.00001
NM_022124.6(CDH23):c.*1C>G rs768199443 0.00001
NM_022124.6(CDH23):c.*247C>T rs1209398908 0.00001
NM_022124.6(CDH23):c.*408G>A rs376837903 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.*509C>T rs763532469 0.00001
NM_022124.6(CDH23):c.-185G>C rs545081281 0.00001
NM_022124.6(CDH23):c.-38G>C rs886047128 0.00001
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273 0.00001
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) rs756425157 0.00001
NM_022124.6(CDH23):c.1141-12C>T rs769964522 0.00001
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887 0.00001
NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys) rs373674747 0.00001
NM_022124.6(CDH23):c.1281C>T (p.Tyr427=) rs1349593079 0.00001
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) rs397517308 0.00001
NM_022124.6(CDH23):c.1502A>G (p.Asp501Gly) rs763437495 0.00001
NM_022124.6(CDH23):c.1516T>C (p.Phe506Leu) rs1864419966 0.00001
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) rs761468283 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1652T>G (p.Val551Gly) rs1251632622 0.00001
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile) rs727504910 0.00001
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn) rs374014052 0.00001
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala) rs767986806 0.00001
NM_022124.6(CDH23):c.1766A>T (p.Asp589Val) rs753165881 0.00001
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly) rs763577236 0.00001
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala) rs775889210 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.190C>T (p.Pro64Ser) rs1297166820 0.00001
NM_022124.6(CDH23):c.1990G>A (p.Glu664Lys) rs536056315 0.00001
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser) rs1304555485 0.00001
NM_022124.6(CDH23):c.2059+10C>T rs748415078 0.00001
NM_022124.6(CDH23):c.208T>G (p.Ser70Ala) rs1853877616 0.00001
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2125A>G (p.Ile709Val) rs754027345 0.00001
NM_022124.6(CDH23):c.2170C>G (p.Arg724Gly) rs769571318 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2283C>T (p.Ile761=) rs267602568 0.00001
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131 0.00001
NM_022124.6(CDH23):c.234T>G (p.Phe78Leu) rs562521392 0.00001
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser) rs774080275 0.00001
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln) rs753068359 0.00001
NM_022124.6(CDH23):c.2561G>A (p.Arg854His) rs1283888780 0.00001
NM_022124.6(CDH23):c.268C>T (p.Arg90Trp) rs1064794990 0.00001
NM_022124.6(CDH23):c.2692G>A (p.Glu898Lys) rs1013565672 0.00001
NM_022124.6(CDH23):c.2715G>A (p.Ala905=) rs759903345 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys) rs775017408 0.00001
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209 0.00001
NM_022124.6(CDH23):c.2803C>T (p.Arg935Cys) rs758451585 0.00001
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser) rs760043975 0.00001
NM_022124.6(CDH23):c.2836G>A (p.Val946Met) rs931850625 0.00001
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu) rs397517318 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp) rs768031780 0.00001
NM_022124.6(CDH23):c.28C>T (p.His10Tyr) rs971142356 0.00001
NM_022124.6(CDH23):c.2953+10C>T rs781572688 0.00001
NM_022124.6(CDH23):c.2971G>A (p.Glu991Lys) rs551073659 0.00001
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met) rs765270590 0.00001
NM_022124.6(CDH23):c.3035T>C (p.Phe1012Ser) rs774623499 0.00001
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=) rs778344637 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.3143G>A (p.Arg1048His) rs747839724 0.00001
NM_022124.6(CDH23):c.3163G>A (p.Val1055Met) rs747028795 0.00001
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) rs369002480 0.00001
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) rs397517322 0.00001
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp) rs754128851 0.00001
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser) rs375367387 0.00001
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln) rs760170584 0.00001
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser) rs373622821 0.00001
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) rs727502925 0.00001
NM_022124.6(CDH23):c.3522C>T (p.His1174=) rs750705577 0.00001
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) rs780886093 0.00001
NM_022124.6(CDH23):c.3579+3G>A rs761976651 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys) rs775540526 0.00001
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) rs111033468 0.00001
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg) rs1038949759 0.00001
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr) rs1166886985 0.00001
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=) rs369188108 0.00001
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370 0.00001
NM_022124.6(CDH23):c.4231G>A (p.Glu1411Lys) rs375057273 0.00001
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) rs747673739 0.00001
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His) rs1435336806 0.00001
NM_022124.6(CDH23):c.4427T>C (p.Ile1476Thr) rs1197884550 0.00001
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp) rs760927863 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.4663C>T (p.Arg1555Cys) rs773842427 0.00001
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser) rs727504606 0.00001
NM_022124.6(CDH23):c.4729C>T (p.Arg1577Cys) rs893684931 0.00001
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His) rs771464282 0.00001
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=) rs370132610 0.00001
NM_022124.6(CDH23):c.4781G>A (p.Arg1594His) rs368368136 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_022124.6(CDH23):c.4793G>A (p.Ser1598Asn) rs1268713495 0.00001
NM_022124.6(CDH23):c.4873G>A (p.Val1625Met) rs1180197801 0.00001
NM_022124.6(CDH23):c.4884T>C (p.Asn1628=) rs777745599 0.00001
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val) rs769888766 0.00001
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp) rs1465588529 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.5132T>C (p.Val1711Ala) rs762613557 0.00001
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) rs762005355 0.00001
NM_022124.6(CDH23):c.5186C>T (p.Thr1729Met) rs545173038 0.00001
NM_022124.6(CDH23):c.5187+4G>A rs752015536 0.00001
NM_022124.6(CDH23):c.523T>C (p.Ser175Pro) rs756340333 0.00001
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn) rs397517338 0.00001
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp) rs145951744 0.00001
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn) rs983665281 0.00001
NM_022124.6(CDH23):c.5676G>A (p.Ala1892=) rs774305066 0.00001
NM_022124.6(CDH23):c.5683C>T (p.Arg1895Cys) rs201490610 0.00001
NM_022124.6(CDH23):c.5719A>T (p.Ile1907Phe) rs755582881 0.00001
NM_022124.6(CDH23):c.5743G>A (p.Asp1915Asn) rs772117059 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6227T>C (p.Val2076Ala) rs773607597 0.00001
NM_022124.6(CDH23):c.6253+5G>A rs1748135455 0.00001
NM_022124.6(CDH23):c.6292A>G (p.Ser2098Gly) rs375699270 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6340G>A (p.Asp2114Asn) rs977083222 0.00001
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) rs727504894 0.00001
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=) rs373462599 0.00001
NM_022124.6(CDH23):c.6562G>A (p.Glu2188Lys) rs1444432865 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.662A>C (p.Asn221Thr) rs766721575 0.00001
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) rs761082272 0.00001
NM_022124.6(CDH23):c.6680A>C (p.Gln2227Pro) rs778453484 0.00001
NM_022124.6(CDH23):c.6689C>G (p.Ala2230Gly) rs779637927 0.00001
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser) rs545514111 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.6856G>A (p.Val2286Ile) rs548373542 0.00001
NM_022124.6(CDH23):c.6959C>T (p.Ala2320Val) rs748864889 0.00001
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His) rs995094571 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7087G>A (p.Glu2363Lys) rs753690054 0.00001
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384 0.00001
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg) rs181197242 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe) rs373823262 0.00001
NM_022124.6(CDH23):c.7399A>G (p.Lys2467Glu) rs762446057 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711 0.00001
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141 0.00001
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys) rs762925264 0.00001
NM_022124.6(CDH23):c.7834G>T (p.Val2612Leu) rs1274482381 0.00001
NM_022124.6(CDH23):c.7893C>T (p.Asn2631=) rs377121007 0.00001
NM_022124.6(CDH23):c.789G>A (p.Gln263=) rs772466142 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_022124.6(CDH23):c.8113A>G (p.Met2705Val) rs747249307 0.00001
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) rs752930006 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.8317G>A (p.Glu2773Lys) rs765697060 0.00001
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val) rs766924822 0.00001
NM_022124.6(CDH23):c.8406C>T (p.Ile2802=) rs752125151 0.00001
NM_022124.6(CDH23):c.8425C>T (p.Arg2809Cys) rs777428282 0.00001
NM_022124.6(CDH23):c.8443C>T (p.Arg2815Cys) rs768583951 0.00001
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) rs397517361 0.00001
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081 0.00001
NM_022124.6(CDH23):c.874G>A (p.Val292Met) rs1437430893 0.00001
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His) rs373600041 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_022124.6(CDH23):c.8979+13C>T rs886047142 0.00001
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met) rs1294837134 0.00001
NM_022124.6(CDH23):c.8G>A (p.Arg3His) rs397517363 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017 0.00001
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile) rs558094423 0.00001
NM_022124.6(CDH23):c.9185T>C (p.Met3062Thr) rs770888523 0.00001
NM_022124.6(CDH23):c.9198+7G>A rs761980521 0.00001
NM_022124.6(CDH23):c.9234G>A (p.Leu3078=) rs952277066 0.00001
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys) rs876657759 0.00001
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His) rs1157786977 0.00001
NM_022124.6(CDH23):c.9349A>G (p.Met3117Val) rs1041158603 0.00001
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) rs754557923 0.00001
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe) rs557490269 0.00001
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736 0.00001
NM_022124.6(CDH23):c.9775C>T (p.His3259Tyr) rs1064795569 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022124.6(CDH23):c.9870C>A (p.Gly3290=) rs370265254 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
NM_022124.6(CDH23):c.997A>T (p.Thr333Ser) rs371005464 0.00001
NM_022124.6(CDH23):c.9980C>T (p.Ala3327Val) rs1393090121 0.00001
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) rs754863487 0.00001
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg) rs1682930814 0.00001
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter) rs768448518 0.00001
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser) rs764148204 0.00001
NM_022168.4(IFIH1):c.1195T>C (p.Ser399Pro) rs1408936117 0.00001
NM_022168.4(IFIH1):c.1219T>C (p.Cys407Arg) rs769101700 0.00001
NM_022168.4(IFIH1):c.121G>C (p.Glu41Gln) rs762115082 0.00001
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe) rs754807936 0.00001
NM_022168.4(IFIH1):c.1294G>T (p.Val432Phe) rs1353805115 0.00001
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp) rs772981550 0.00001
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys) rs1031540879 0.00001
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser) rs1416059394 0.00001
NM_022168.4(IFIH1):c.1525-1G>A rs774035953 0.00001
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val) rs747683934 0.00001
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn) rs1683546966 0.00001
NM_022168.4(IFIH1):c.1574T>C (p.Leu525Pro) rs1390303966 0.00001
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala) rs1683546841 0.00001
NM_022168.4(IFIH1):c.1625C>A (p.Ala542Glu) rs1490646945 0.00001
NM_022168.4(IFIH1):c.1633A>G (p.Thr545Ala) rs762899578 0.00001
NM_022168.4(IFIH1):c.1641+2T>C rs747781178 0.00001
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val) rs756286361 0.00001
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) rs776280813 0.00001
NM_022168.4(IFIH1):c.1765+1G>A rs1292220162 0.00001
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486 0.00001
NM_022168.4(IFIH1):c.180A>C (p.Glu60Asp) rs777639035 0.00001
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys) rs775623826 0.00001
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr) rs376940981 0.00001
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys) rs1213233883 0.00001
NM_022168.4(IFIH1):c.2015C>T (p.Thr672Ile) rs527242746 0.00001
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn) rs746781048 0.00001
NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly) rs775545790 0.00001
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923 0.00001
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe) rs1307616619 0.00001
NM_022168.4(IFIH1):c.2192C>T (p.Ala731Val) rs766238091 0.00001
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg) rs764553894 0.00001
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn) rs1649189149 0.00001
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp) rs1246892209 0.00001
NM_022168.4(IFIH1):c.2330A>G (p.Lys777Arg) rs1286741340 0.00001
NM_022168.4(IFIH1):c.2356C>T (p.Leu786Phe) rs759911216 0.00001
NM_022168.4(IFIH1):c.2368A>G (p.Thr790Ala) rs770138422 0.00001
NM_022168.4(IFIH1):c.2398G>T (p.Glu800Ter) rs1444920926 0.00001
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile) rs763479773 0.00001
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile) rs569872801 0.00001
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg) rs138373022 0.00001
NM_022168.4(IFIH1):c.2570C>G (p.Ala857Gly) rs746638759 0.00001
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys) rs375179358 0.00001
NM_022168.4(IFIH1):c.2604G>T (p.Glu868Asp) rs760907862 0.00001
NM_022168.4(IFIH1):c.2606A>G (p.Tyr869Cys) rs752986445 0.00001
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu) rs948646167 0.00001
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg) rs772381153 0.00001
NM_022168.4(IFIH1):c.2714T>C (p.Phe905Ser) rs371419955 0.00001
NM_022168.4(IFIH1):c.2724A>T (p.Lys908Asn) rs750467622 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_022168.4(IFIH1):c.2750G>A (p.Gly917Glu) rs1690961624 0.00001
NM_022168.4(IFIH1):c.2759T>A (p.Ile920Asn) rs748895438 0.00001
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr) rs1291159972 0.00001
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg) rs747311719 0.00001
NM_022168.4(IFIH1):c.2808-3T>C rs1690950904 0.00001
NM_022168.4(IFIH1):c.281A>G (p.Tyr94Cys) rs1325840950 0.00001
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile) rs1322389017 0.00001
NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter) rs750063177 0.00001
NM_022168.4(IFIH1):c.2898+5G>C rs958493507 0.00001
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser) rs931567064 0.00001
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu) rs764380346 0.00001
NM_022168.4(IFIH1):c.328G>C (p.Ala110Pro) rs1475589306 0.00001
NM_022168.4(IFIH1):c.331C>A (p.His111Asn) rs760903088 0.00001
NM_022168.4(IFIH1):c.370dup (p.Thr124fs) rs1414913745 0.00001
NM_022168.4(IFIH1):c.376G>A (p.Val126Met) rs143910264 0.00001
NM_022168.4(IFIH1):c.37T>A (p.Tyr13Asn) rs763796280 0.00001
NM_022168.4(IFIH1):c.411G>C (p.Lys137Asn) rs1257535402 0.00001
NM_022168.4(IFIH1):c.453+1G>A rs967571395 0.00001
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys) rs1018886793 0.00001
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter) rs1455983191 0.00001
NM_022168.4(IFIH1):c.524A>T (p.Glu175Val) rs759418219 0.00001
NM_022168.4(IFIH1):c.566G>C (p.Gly189Ala) rs898426581 0.00001
NM_022168.4(IFIH1):c.572A>G (p.Asn191Ser) rs1255420302 0.00001
NM_022168.4(IFIH1):c.58G>A (p.Ala20Thr) rs1160285695 0.00001
NM_022168.4(IFIH1):c.605G>A (p.Cys202Tyr) rs1332221584 0.00001
NM_022168.4(IFIH1):c.613A>G (p.Ser205Gly) rs1029888708 0.00001
NM_022168.4(IFIH1):c.62G>T (p.Arg21Met) rs370024615 0.00001
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile) rs930052265 0.00001
NM_022168.4(IFIH1):c.644T>C (p.Val215Ala) rs546097679 0.00001
NM_022168.4(IFIH1):c.683C>T (p.Thr228Ile) rs746288754 0.00001
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr) rs370138586 0.00001
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895 0.00001
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn) rs1442046271 0.00001
NM_022168.4(IFIH1):c.802A>G (p.Ser268Gly) rs1266267435 0.00001
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn) rs1683037048 0.00001
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile) rs1683036042 0.00001
NM_022336.4(EDAR):c.*1298G>C rs1696567664 0.00001
NM_022336.4(EDAR):c.*1703G>A rs1459775112 0.00001
NM_022336.4(EDAR):c.*1761G>A rs886054737 0.00001
NM_022336.4(EDAR):c.*242T>C rs1398672274 0.00001
NM_022336.4(EDAR):c.*602T>A rs886054742 0.00001
NM_022336.4(EDAR):c.-71C>G rs1207037322 0.00001
NM_022336.4(EDAR):c.1006G>A (p.Val336Met) rs1300767499 0.00001
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) rs899642068 0.00001
NM_022336.4(EDAR):c.186C>T (p.Tyr62=) rs751600128 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.560C>T (p.Ala187Val) rs1411472080 0.00001
NM_022336.4(EDAR):c.569T>C (p.Ile190Thr) rs1696920814 0.00001
NM_022336.4(EDAR):c.606C>T (p.Ile202=) rs201950451 0.00001
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) rs1306259287 0.00001
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp) rs727504153 0.00001
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly) rs879437180 0.00001
NM_022464.5(SIL1):c.648G>C (p.Met216Ile) rs538181924 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met) rs1481107650 0.00001
NM_024298.5(MBOAT7):c.763G>A (p.Gly255Ser) rs761791932 0.00001
NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met) rs139499369 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) rs781414509 0.00001
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) rs1412050261 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523 0.00001
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) rs771708277 0.00001
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045 0.00001
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) rs752243337 0.00001
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) rs1555739297 0.00001
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) rs763299165 0.00001
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) rs373244438 0.00001
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092 0.00001
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) rs751506122 0.00001
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) rs1311501368 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) rs1244445645 0.00001
NM_024301.5(FKRP):c.299G>A (p.Arg100His) rs1174581828 0.00001
NM_024301.5(FKRP):c.315G>T (p.Gln105His) rs765444642 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) rs760295001 0.00001
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) rs1060502106 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) rs1599935206 0.00001
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) rs748272589 0.00001
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) rs772380755 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 0.00001
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) rs1320991574 0.00001
NM_024301.5(FKRP):c.809G>A (p.Arg270His) rs1025118379 0.00001
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110 0.00001
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024301.5(FKRP):c.959G>A (p.Arg320His) rs1465811690 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) rs886044183 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458 0.00001
NM_024417.5(FDXR):c.926G>A (p.Arg309Gln) rs948669536 0.00001
NM_024570.4(RNASEH2B):c.*12T>C rs773052815 0.00001
NM_024570.4(RNASEH2B):c.*159A>G rs886050292 0.00001
NM_024570.4(RNASEH2B):c.*249T>C rs886050293 0.00001
NM_024570.4(RNASEH2B):c.*29A>G rs1200577478 0.00001
NM_024570.4(RNASEH2B):c.-181G>A rs886050288 0.00001
NM_024570.4(RNASEH2B):c.111T>G (p.Phe37Leu) rs1458234584 0.00001
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569 0.00001
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val) rs1951648776 0.00001
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg) rs759251667 0.00001
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe) rs1262454987 0.00001
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val) rs761380890 0.00001
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu) rs999474934 0.00001
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382 0.00001
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala) rs1363075189 0.00001
NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val) rs200535256 0.00001
NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp) rs754434417 0.00001
NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro) rs1161853513 0.00001
NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile) rs758877268 0.00001
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp) rs765368182 0.00001
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr) rs555463211 0.00001
NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu) rs1028530418 0.00001
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly) rs1015708068 0.00001
NM_024570.4(RNASEH2B):c.616+5del rs1951890362 0.00001
NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys) rs769632378 0.00001
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His) rs755705496 0.00001
NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr) rs747995413 0.00001
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu) rs746153565 0.00001
NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val) rs1307271194 0.00001
NM_024570.4(RNASEH2B):c.822+5G>A rs761333168 0.00001
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu) rs1395602025 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser) rs780504013 0.00001
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr) rs542600186 0.00001
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn) rs775430621 0.00001
NM_024580.6(EFL1):c.787C>G (p.Leu263Val) rs751006899 0.00001
NM_024596.5(MCPH1):c.*412C>T rs886063071 0.00001
NM_024596.5(MCPH1):c.*433C>G rs1159852630 0.00001
NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) rs374363568 0.00001
NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) rs531526435 0.00001
NM_024596.5(MCPH1):c.148G>A (p.Val50Ile) rs779924077 0.00001
NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys) rs759874234 0.00001
NM_024596.5(MCPH1):c.192G>A (p.Gln64=) rs767548647 0.00001
NM_024596.5(MCPH1):c.1936-10A>G rs587783736 0.00001
NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile) rs752602108 0.00001
NM_024596.5(MCPH1):c.2078G>A (p.Arg693His) rs370011131 0.00001
NM_024596.5(MCPH1):c.285T>C (p.Asn95=) rs187466318 0.00001
NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu) rs371941778 0.00001
NM_024596.5(MCPH1):c.502A>G (p.Ile168Val) rs752860887 0.00001
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val) rs587783743 0.00001
NM_024649.5(BBS1):c.*1088G>A rs886048531 0.00001
NM_024649.5(BBS1):c.*10T>A rs765633556 0.00001
NM_024649.5(BBS1):c.*1274A>G rs192684991 0.00001
NM_024649.5(BBS1):c.104A>G (p.His35Arg) rs775990952 0.00001
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys) rs747459381 0.00001
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser) rs745375133 0.00001
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) rs759275651 0.00001
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) rs377297999 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 0.00001
NM_024649.5(BBS1):c.1253C>T (p.Pro418Leu) rs1410252393 0.00001
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) rs767247916 0.00001
NM_024649.5(BBS1):c.1303G>A (p.Val435Met) rs1181760871 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr) rs1271245314 0.00001
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile) rs757132669 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1471G>A (p.Val491Met) rs377469172 0.00001
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp) rs1306126953 0.00001
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) rs1856753561 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.159G>A (p.Lys53=) rs1262106058 0.00001
NM_024649.5(BBS1):c.1640C>A (p.Pro547His) rs774636593 0.00001
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) rs544767888 0.00001
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val) rs374048871 0.00001
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser) rs758544060 0.00001
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709 0.00001
NM_024649.5(BBS1):c.184G>C (p.Gly62Arg) rs763878620 0.00001
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) rs767385250 0.00001
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu) rs1479663514 0.00001
NM_024649.5(BBS1):c.280A>G (p.Met94Val) rs1376711744 0.00001
NM_024649.5(BBS1):c.32C>T (p.Ala11Val) rs150122944 0.00001
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe) rs753517084 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.445C>T (p.Pro149Ser) rs762511224 0.00001
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00001
NM_024649.5(BBS1):c.464T>C (p.Met155Thr) rs879524751 0.00001
NM_024649.5(BBS1):c.48C>T (p.Ser16=) rs200255383 0.00001
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) rs748946143 0.00001
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) rs774163850 0.00001
NM_024649.5(BBS1):c.533A>G (p.Glu178Gly) rs1454643152 0.00001
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser) rs1207942097 0.00001
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) rs142769864 0.00001
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) rs1300549627 0.00001
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile) rs1368294392 0.00001
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.646G>A (p.Val216Met) rs764165386 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) rs1482951221 0.00001
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) rs763004810 0.00001
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) rs544315396 0.00001
NM_024649.5(BBS1):c.772G>C (p.Asp258His) rs779297419 0.00001
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076 0.00001
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys) rs765732035 0.00001
NM_024649.5(BBS1):c.830+3A>G rs747229201 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_024685.4(BBS10):c.*1041G>T rs1184051032 0.00001
NM_024685.4(BBS10):c.*1113G>C rs1432385652 0.00001
NM_024685.4(BBS10):c.*119G>A rs886049846 0.00001
NM_024685.4(BBS10):c.*264A>T rs556444502 0.00001
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu) rs938066133 0.00001
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe) rs1289641509 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg) rs1951762407 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly) rs1951758303 0.00001
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser) rs1444034224 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) rs1453771610 0.00001
NM_024685.4(BBS10):c.1893G>C (p.Met631Ile) rs144428139 0.00001
NM_024685.4(BBS10):c.190A>G (p.Ile64Val) rs755814743 0.00001
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079 0.00001
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly) rs780874811 0.00001
NM_024685.4(BBS10):c.197+5C>T rs754503828 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_024685.4(BBS10):c.1992A>G (p.Ala664=) rs758730453 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.206T>A (p.Val69Glu) rs1176176320 0.00001
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu) rs202134724 0.00001
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter) rs959224608 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala) rs899733320 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.292C>A (p.His98Asn) rs748465517 0.00001
NM_024685.4(BBS10):c.327G>A (p.Met109Ile) rs1051916652 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala) rs147432159 0.00001
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile) rs1254886838 0.00001
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg) rs936655028 0.00001
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe) rs766572403 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024685.4(BBS10):c.397C>G (p.Leu133Val) rs750446869 0.00001
NM_024685.4(BBS10):c.411G>T (p.Gln137His) rs775342373 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr) rs1316090880 0.00001
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro) rs777951931 0.00001
NM_024685.4(BBS10):c.763A>G (p.Met255Val) rs772739860 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg) rs1396450993 0.00001
NM_024685.4(BBS10):c.85G>T (p.Val29Leu) rs752267054 0.00001
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) rs759385121 0.00001
NM_024685.4(BBS10):c.955G>C (p.Val319Leu) rs769233464 0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu) rs1000990130 0.00001
NM_024753.5(TTC21B):c.*1104G>A rs1001278499 0.00001
NM_024753.5(TTC21B):c.*642C>T rs547612425 0.00001
NM_024753.5(TTC21B):c.-16C>G rs886055030 0.00001
NM_024753.5(TTC21B):c.-64G>A rs886055031 0.00001
NM_024753.5(TTC21B):c.1022A>C (p.Lys341Thr) rs1686837269 0.00001
NM_024753.5(TTC21B):c.105T>G (p.Ser35Arg) rs750039189 0.00001
NM_024753.5(TTC21B):c.1088-3T>C rs761658519 0.00001
NM_024753.5(TTC21B):c.117C>G (p.Phe39Leu) rs1559078793 0.00001
NM_024753.5(TTC21B):c.1186-10T>G rs1352577616 0.00001
NM_024753.5(TTC21B):c.1259A>G (p.Asn420Ser) rs1267990831 0.00001
NM_024753.5(TTC21B):c.1277A>G (p.His426Arg) rs981361200 0.00001
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg) rs971283288 0.00001
NM_024753.5(TTC21B):c.1327C>G (p.Leu443Val) rs772177785 0.00001
NM_024753.5(TTC21B):c.1406C>G (p.Pro469Arg) rs370444625 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe) rs1246746208 0.00001
NM_024753.5(TTC21B):c.1552T>C (p.Cys518Arg) rs1378821369 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1643C>G (p.Ser548Cys) rs777801181 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1687C>G (p.Pro563Ala) rs757173737 0.00001
NM_024753.5(TTC21B):c.169C>T (p.Leu57Phe) rs139392369 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.1793T>C (p.Ile598Thr) rs143612688 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.1882C>T (p.Arg628Cys) rs367855384 0.00001
NM_024753.5(TTC21B):c.1A>G (p.Met1Val) rs1435376086 0.00001
NM_024753.5(TTC21B):c.2123A>G (p.Tyr708Cys) rs756694027 0.00001
NM_024753.5(TTC21B):c.2138G>T (p.Arg713Ile) rs781708463 0.00001
NM_024753.5(TTC21B):c.2167C>T (p.Arg723Trp) rs201500142 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.226G>T (p.Ala76Ser) rs1272269691 0.00001
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val) rs753608608 0.00001
NM_024753.5(TTC21B):c.2344G>C (p.Ala782Pro) rs752254910 0.00001
NM_024753.5(TTC21B):c.2360A>G (p.Gln787Arg) rs760057103 0.00001
NM_024753.5(TTC21B):c.2416G>C (p.Asp806His) rs1685925440 0.00001
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg) rs965238984 0.00001
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr) rs767841175 0.00001
NM_024753.5(TTC21B):c.2494C>T (p.Arg832Cys) rs1439121645 0.00001
NM_024753.5(TTC21B):c.2540T>C (p.Leu847Pro) rs750709791 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly) rs895624584 0.00001
NM_024753.5(TTC21B):c.2599C>T (p.Arg867Cys) rs746700857 0.00001
NM_024753.5(TTC21B):c.2636A>C (p.Gln879Pro) rs375464714 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2699A>G (p.Tyr900Cys) rs766007738 0.00001
NM_024753.5(TTC21B):c.2726A>T (p.Glu909Val) rs1433947584 0.00001
NM_024753.5(TTC21B):c.2734G>C (p.Val912Leu) rs756613993 0.00001
NM_024753.5(TTC21B):c.2782T>C (p.Tyr928His) rs1685493736 0.00001
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe) rs184561530 0.00001
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val) rs746138925 0.00001
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys) rs749278599 0.00001
NM_024753.5(TTC21B):c.2961G>A (p.Met987Ile) rs778812999 0.00001
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr) rs777427926 0.00001
NM_024753.5(TTC21B):c.3034G>A (p.Ala1012Thr) rs769459956 0.00001
NM_024753.5(TTC21B):c.3044G>A (p.Arg1015His) rs1235756793 0.00001
NM_024753.5(TTC21B):c.305A>G (p.Gln102Arg) rs748245713 0.00001
NM_024753.5(TTC21B):c.3101+9A>G rs764331829 0.00001
NM_024753.5(TTC21B):c.3158G>A (p.Arg1053His) rs768306526 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3265A>G (p.Asn1089Asp) rs1403922219 0.00001
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) rs148631747 0.00001
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile) rs746123823 0.00001
NM_024753.5(TTC21B):c.3383A>G (p.Tyr1128Cys) rs1685078744 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3423A>G (p.Gln1141=) rs1176724856 0.00001
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) rs767037992 0.00001
NM_024753.5(TTC21B):c.3460-3T>C rs754665883 0.00001
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) rs1040877016 0.00001
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 0.00001
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His) rs199658616 0.00001
NM_024753.5(TTC21B):c.3548T>C (p.Ile1183Thr) rs780846081 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3586T>G (p.Phe1196Val) rs754307147 0.00001
NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val) rs760982788 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.3674G>A (p.Arg1225His) rs1231210163 0.00001
NM_024753.5(TTC21B):c.3680A>G (p.Asn1227Ser) rs771598715 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_024753.5(TTC21B):c.3886del (p.His1296fs) rs1452582965 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.412T>C (p.Ser138Pro) rs1315060629 0.00001
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) rs779381150 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_024753.5(TTC21B):c.499T>G (p.Tyr167Asp) rs776678493 0.00001
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) rs775266613 0.00001
NM_024753.5(TTC21B):c.51A>G (p.Arg17=) rs1242174524 0.00001
NM_024753.5(TTC21B):c.550A>G (p.Lys184Glu) rs748570902 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.670G>A (p.Ala224Thr) rs1423263208 0.00001
NM_024753.5(TTC21B):c.718C>T (p.Leu240Phe) rs1338382358 0.00001
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu) rs1364155246 0.00001
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr) rs1217195888 0.00001
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser) rs1366178129 0.00001
NM_024753.5(TTC21B):c.985G>A (p.Glu329Lys) rs768266139 0.00001
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln) rs772949764 0.00001
NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys) rs752507663 0.00001
NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys) rs1291611574 0.00001
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr) rs780043187 0.00001
NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys) rs776817075 0.00001
NM_024989.4(PGAP1):c.2525+5G>A rs759133146 0.00001
NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser) rs765007097 0.00001
NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn) rs776985592 0.00001
NM_024989.4(PGAP1):c.478-3T>C rs773139555 0.00001
NM_024989.4(PGAP1):c.695A>G (p.His232Arg) rs749729836 0.00001
NM_025009.5(CEP135):c.3346C>T (p.Arg1116Ter) rs953311582 0.00001
NM_025009.5(CEP135):c.575A>T (p.Asp192Val) rs1324886097 0.00001
NM_025074.7(FRAS1):c.*1303G>A rs1167568461 0.00001
NM_025074.7(FRAS1):c.*1345C>T rs886059652 0.00001
NM_025074.7(FRAS1):c.*1698G>C rs1303968996 0.00001
NM_025074.7(FRAS1):c.*2028C>G rs1027128705 0.00001
NM_025074.7(FRAS1):c.*2223G>A rs1722113270 0.00001
NM_025074.7(FRAS1):c.*2512C>T rs886059656 0.00001
NM_025074.7(FRAS1):c.*2941A>T rs1259558413 0.00001
NM_025074.7(FRAS1):c.*2951A>T rs1722136952 0.00001
NM_025074.7(FRAS1):c.*319A>G rs1722048477 0.00001
NM_025074.7(FRAS1):c.*824T>G rs1218870035 0.00001
NM_025074.7(FRAS1):c.*926C>T rs1227739524 0.00001
NM_025074.7(FRAS1):c.-185G>T rs559206528 0.00001
NM_025074.7(FRAS1):c.-245C>G rs886059623 0.00001
NM_025074.7(FRAS1):c.10390-5G>A rs753366978 0.00001
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) rs748159035 0.00001
NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys) rs755221317 0.00001
NM_025074.7(FRAS1):c.11252G>A (p.Gly3751Glu) rs1484025134 0.00001
NM_025074.7(FRAS1):c.11299-8A>C rs368551584 0.00001
NM_025074.7(FRAS1):c.11559G>A (p.Arg3853=) rs989874672 0.00001
NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu) rs368792355 0.00001
NM_025074.7(FRAS1):c.118A>C (p.Ile40Leu) rs751533644 0.00001
NM_025074.7(FRAS1):c.1270G>C (p.Asp424His) rs775737013 0.00001
NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln) rs369973948 0.00001
NM_025074.7(FRAS1):c.1486G>T (p.Val496Leu) rs201490843 0.00001
NM_025074.7(FRAS1):c.1528T>C (p.Cys510Arg) rs141063284 0.00001
NM_025074.7(FRAS1):c.1897C>T (p.Arg633Cys) rs370349229 0.00001
NM_025074.7(FRAS1):c.1905C>T (p.Gly635=) rs1406270521 0.00001
NM_025074.7(FRAS1):c.1914G>A (p.Leu638=) rs778155926 0.00001
NM_025074.7(FRAS1):c.195C>T (p.Asn65=) rs200429476 0.00001
NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly) rs781560608 0.00001
NM_025074.7(FRAS1):c.2870-5T>C rs768834170 0.00001
NM_025074.7(FRAS1):c.3048T>C (p.His1016=) rs886059631 0.00001
NM_025074.7(FRAS1):c.3523G>A (p.Glu1175Lys) rs746130442 0.00001
NM_025074.7(FRAS1):c.3529A>C (p.Lys1177Gln) rs769982793 0.00001
NM_025074.7(FRAS1):c.446G>A (p.Cys149Tyr) rs769003850 0.00001
NM_025074.7(FRAS1):c.4578C>G (p.Ile1526Met) rs757959583 0.00001
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) rs566595838 0.00001
NM_025074.7(FRAS1):c.47A>C (p.Glu16Ala) rs554995505 0.00001
NM_025074.7(FRAS1):c.5939C>T (p.Ser1980Phe) rs762464811 0.00001
NM_025074.7(FRAS1):c.6496C>A (p.Pro2166Thr) rs767095340 0.00001
NM_025074.7(FRAS1):c.6684G>A (p.Gln2228=) rs759150629 0.00001
NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=) rs761562615 0.00001
NM_025074.7(FRAS1):c.6727C>T (p.Pro2243Ser) rs764783509 0.00001
NM_025074.7(FRAS1):c.7030-3C>G rs1254762800 0.00001
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) rs865839705 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys) rs1719826004 0.00001
NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg) rs576372683 0.00001
NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp) rs367972398 0.00001
NM_025074.7(FRAS1):c.8125A>G (p.Ile2709Val) rs762129626 0.00001
NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=) rs773905369 0.00001
NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=) rs778885038 0.00001
NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=) rs749014065 0.00001
NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg) rs771808832 0.00001
NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=) rs778096225 0.00001
NM_025074.7(FRAS1):c.9538G>A (p.Glu3180Lys) rs369950838 0.00001
NM_025074.7(FRAS1):c.9541G>A (p.Val3181Ile) rs1464507728 0.00001
NM_025074.7(FRAS1):c.9607G>A (p.Asp3203Asn) rs540286890 0.00001
NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=) rs761161131 0.00001
NM_025077.4(TOE1):c.-37T>A rs759654665 0.00001
NM_025077.4(TOE1):c.-38G>C rs774530388 0.00001
NM_025077.4(TOE1):c.-39C>T rs876658588 0.00001
NM_025077.4(TOE1):c.1A>G (p.Met1Val) rs865954220 0.00001
NM_025083.5(EDC3):c.778C>T (p.Arg260Trp) rs748142645 0.00001
NM_025114.4(CEP290):c.-203C>A rs961052158 0.00001
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.101A>T (p.Lys34Met) rs574089816 0.00001
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro) rs1429640081 0.00001
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys) rs753281190 0.00001
NM_025114.4(CEP290):c.1066-3T>C rs996569804 0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp) rs997653455 0.00001
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val) rs375428355 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala) rs772026871 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del) rs1323191320 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys) rs1018550969 0.00001
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln) rs748917889 0.00001
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly) rs1228969929 0.00001
NM_025114.4(CEP290):c.1517G>A (p.Arg506His) rs866571949 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met) rs762272190 0.00001
NM_025114.4(CEP290):c.1646G>A (p.Arg549Gln) rs774824252 0.00001
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn) rs374824892 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser) rs761662102 0.00001
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr) rs776346956 0.00001
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr) rs772165172 0.00001
NM_025114.4(CEP290):c.1953G>A (p.Met651Ile) rs1402439930 0.00001
NM_025114.4(CEP290):c.1999G>A (p.Val667Ile) rs1374826842 0.00001
NM_025114.4(CEP290):c.2056A>G (p.Ile686Val) rs1189284598 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2131A>G (p.Arg711Gly) rs758037479 0.00001
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln) rs764117043 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met) rs1378036383 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 0.00001
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val) rs2038667110 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2408A>G (p.Asp803Gly) rs927571972 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-3C>T rs759025964 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924 0.00001
NM_025114.4(CEP290):c.274A>G (p.Met92Val) rs951351175 0.00001
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser) rs1489447514 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2861A>G (p.Asp954Gly) rs886049882 0.00001
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00001
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser) rs951200727 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.2991G>A (p.Glu997=) rs2037995979 0.00001
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu) rs1201691161 0.00001
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr) rs916545578 0.00001
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr) rs1421960607 0.00001
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys) rs928926898 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp) rs1051440600 0.00001
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser) rs373207132 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3529G>C (p.Asp1177His) rs1030787885 0.00001
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg) rs920028502 0.00001
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609 0.00001
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val) rs1420933299 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3717G>A (p.Glu1239=) rs1159465602 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg) rs750776051 0.00001
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys) rs776812442 0.00001
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047 0.00001
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His) rs749261915 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=) rs372184970 0.00001
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr) rs771133112 0.00001
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met) rs1328019408 0.00001
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met) rs1026690396 0.00001
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile) rs769989974 0.00001
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln) rs753374614 0.00001
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr) rs1217427527 0.00001
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys) rs763605289 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg) rs751352443 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr) rs554863859 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln) rs1348715646 0.00001
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr) rs368057362 0.00001
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser) rs1064795491 0.00001
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=) rs1259897302 0.00001
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala) rs1182703361 0.00001
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val) rs542400806 0.00001
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu) rs936648881 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr) rs1565822715 0.00001
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser) rs776980750 0.00001
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro) rs771657596 0.00001
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=) rs753424189 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5621T>C (p.Ile1874Thr) rs781335780 0.00001
NM_025114.4(CEP290):c.5707A>G (p.Lys1903Glu) rs878855334 0.00001
NM_025114.4(CEP290):c.5709+5G>A rs2035845308 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.5933G>A (p.Arg1978Gln) rs774881412 0.00001
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His) rs745998591 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr) rs2034573032 0.00001
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr) rs527704077 0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr) rs1208196086 0.00001
NM_025114.4(CEP290):c.6357+3A>G rs777062671 0.00001
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu) rs752851135 0.00001
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr) rs1319955144 0.00001
NM_025114.4(CEP290):c.6493A>T (p.Asn2165Tyr) rs769886105 0.00001
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr) rs535765861 0.00001
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys) rs1222842886 0.00001
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr) rs768539400 0.00001
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly) rs779145328 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6645+6A>T rs765992358 0.00001
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln) rs1214939378 0.00001
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg) rs371397659 0.00001
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg) rs535571590 0.00001
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met) rs1355908667 0.00001
NM_025114.4(CEP290):c.6818+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=) rs760964107 0.00001
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg) rs766016762 0.00001
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met) rs770168358 0.00001
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys) rs1393659962 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) rs1233939358 0.00001
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys) rs949161264 0.00001
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) rs534440681 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) rs762238709 0.00001
NM_025114.4(CEP290):c.772A>C (p.Asn258His) rs979378806 0.00001
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr) rs1331352301 0.00001
NM_025114.4(CEP290):c.787A>G (p.Ile263Val) rs1477583890 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly) rs958209779 0.00001
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr) rs565630355 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser) rs1729030821 0.00001
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys) rs761268969 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr) rs1729266547 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala) rs772209665 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile) rs764106666 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn) rs557405566 0.00001
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp) rs375777724 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1749T>G (p.Thr583=) rs767572787 0.00001
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu) rs1245108212 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr) rs767757561 0.00001
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) rs1024499799 0.00001
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro) rs753976268 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser) rs777105752 0.00001
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn) rs765614115 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2272C>A (p.His758Asn) rs577133819 0.00001
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr) rs545547031 0.00001
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile) rs1349223638 0.00001
NM_025132.4(WDR19):c.2562+4C>G rs1732285598 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg) rs1231847370 0.00001
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn) rs761275061 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.277G>C (p.Asp93His) rs1725959489 0.00001
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val) rs778314721 0.00001
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr) rs1733506402 0.00001
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val) rs771583357 0.00001
NM_025132.4(WDR19):c.291-12_291-11del rs1324399102 0.00001
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg) rs1733508675 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.2T>C (p.Met1Thr) rs1021076498 0.00001
NM_025132.4(WDR19):c.3001+3A>G rs986476372 0.00001
NM_025132.4(WDR19):c.3001+6T>C rs912115085 0.00001
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser) rs757632232 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val) rs760222006 0.00001
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu) rs1331013833 0.00001
NM_025132.4(WDR19):c.3358+3A>G rs1263454874 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His) rs1187864679 0.00001
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val) rs1235824066 0.00001
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) rs774806370 0.00001
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp) rs748465735 0.00001
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe) rs1735527919 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr) rs1250445688 0.00001
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr) rs1187043579 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His) rs1158060361 0.00001
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys) rs767906377 0.00001
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu) rs778745769 0.00001
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 0.00001
NM_025132.4(WDR19):c.43G>A (p.Ala15Thr) rs865806299 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.603+3A>G rs1727609864 0.00001
NM_025132.4(WDR19):c.621C>T (p.Gly207=) rs1330119254 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr) rs1371153516 0.00001
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys) rs755629699 0.00001
NM_025132.4(WDR19):c.716+12A>G rs779700299 0.00001
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu) rs372022021 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu) rs763697118 0.00001
NM_025132.4(WDR19):c.931G>A (p.Val311Ile) rs1300934052 0.00001
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) rs886059396 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_025216.2(WNT10A):c.-153G>A rs886055640 0.00001
NM_025216.3(WNT10A):c.*238C>T rs1176499706 0.00001
NM_025216.3(WNT10A):c.-70G>C rs1042922024 0.00001
NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu) rs781178898 0.00001
NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys) rs1186983054 0.00001
NM_025216.3(WNT10A):c.212A>T (p.Gln71Leu) rs368943130 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val) rs373695499 0.00001
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn) rs758023820 0.00001
NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys) rs754010310 0.00001
NM_025216.3(WNT10A):c.652A>G (p.Met218Val) rs373991357 0.00001
NM_025216.3(WNT10A):c.670T>C (p.Phe224Leu) rs749857233 0.00001
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln) rs772154760 0.00001
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys) rs121908118 0.00001
NM_025216.3(WNT10A):c.756G>A (p.Gln252=) rs768536054 0.00001
NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys) rs1324234734 0.00001
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys) rs1234227647 0.00001
NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser) rs886055643 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.959C>G (p.Pro320Arg) rs974508350 0.00001
NM_030805.4(LMAN2L):c.187+4A>C rs2078596924 0.00001
NM_030805.4(LMAN2L):c.785-273A>G rs1469575298 0.00001
NM_030928.4(CDT1):c.1125G>A (p.Met375Ile) rs779105998 0.00001
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) rs1006026359 0.00001
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) rs867531303 0.00001
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) rs1347504374 0.00001
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) rs377759054 0.00001
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) rs772177008 0.00001
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) rs767054440 0.00001
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) rs775462582 0.00001
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) rs772388994 0.00001
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) rs561391251 0.00001
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) rs769458086 0.00001
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) rs763268722 0.00001
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) rs775250461 0.00001
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) rs767660746 0.00001
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) rs773426791 0.00001
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) rs755669055 0.00001
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) rs1337201735 0.00001
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) rs375257104 0.00001
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) rs886043481 0.00001
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) rs778780064 0.00001
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) rs370418382 0.00001
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) rs1946335026 0.00001
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) rs1433083830 0.00001
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) rs762181713 0.00001
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) rs750690989 0.00001
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) rs895025488 0.00001
NM_031471.6(FERMT3):c.516C>T (p.Gly172=) rs1484992100 0.00001
NM_031471.6(FERMT3):c.517G>A (p.Val173Met) rs756692622 0.00001
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) rs772115690 0.00001
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) rs754848089 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) rs140948450 0.00001
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) rs139416960 0.00001
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) rs777040462 0.00001
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) rs906322276 0.00001
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) rs1376001840 0.00001
NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu) rs117053591 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.117G>A (p.Lys39=) rs755877218 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 0.00001
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1267T>C (p.Phe423Leu) rs754625376 0.00001
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly) rs752065274 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) rs772380071 0.00001
NM_031885.5(BBS2):c.143G>A (p.Arg48Gln) rs775577429 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 0.00001
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.1601G>A (p.Cys534Tyr) rs1964174593 0.00001
NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp) rs747228782 0.00001
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met) rs774112668 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser) rs1288834218 0.00001
NM_031885.5(BBS2):c.1804G>A (p.Glu602Lys) rs1199835895 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala) rs1964133123 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.194A>T (p.Asp65Val) rs746643609 0.00001
NM_031885.5(BBS2):c.1981C>T (p.Arg661Cys) rs766476238 0.00001
NM_031885.5(BBS2):c.1991A>G (p.Asn664Ser) rs1963755946 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 0.00001
NM_031885.5(BBS2):c.2087C>T (p.Thr696Ile) rs780369177 0.00001
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) rs1003841433 0.00001
NM_031885.5(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107 0.00001
NM_031885.5(BBS2):c.2152del (p.Thr718fs) rs1156738620 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.400C>T (p.Pro134Ser) rs1275057392 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr) rs1348932407 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.508G>A (p.Asp170Asn) rs786205498 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly) rs1325859248 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.619A>G (p.Thr207Ala) rs1183364786 0.00001
NM_031885.5(BBS2):c.717+5G>A rs1567579212 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 0.00001
NM_031885.5(BBS2):c.730_732del (p.Ala244del) rs1171314440 0.00001
NM_031885.5(BBS2):c.783A>C (p.Ile261=) rs183982328 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 0.00001
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His) rs772929976 0.00001
NM_032040.5(CCDC8):c.1094A>C (p.Asp365Ala) rs141966158 0.00001
NM_032119.4(ADGRV1):c.10053+9A>G rs574636636 0.00001
NM_032119.4(ADGRV1):c.10267A>G (p.Ile3423Val) rs747192045 0.00001
NM_032119.4(ADGRV1):c.10308A>T (p.Arg3436Ser) rs559004744 0.00001
NM_032119.4(ADGRV1):c.10440A>T (p.Ser3480=) rs781252270 0.00001
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) rs780372483 0.00001
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly) rs771934458 0.00001
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile) rs375025827 0.00001
NM_032119.4(ADGRV1):c.11457A>G (p.Gln3819=) rs1312477726 0.00001
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp) rs775426944 0.00001
NM_032119.4(ADGRV1):c.12222G>A (p.Trp4074Ter) rs1366388721 0.00001
NM_032119.4(ADGRV1):c.12425G>A (p.Arg4142Gln) rs1047782967 0.00001
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) rs727503080 0.00001
NM_032119.4(ADGRV1):c.1252A>G (p.Thr418Ala) rs749595916 0.00001
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp) rs765063390 0.00001
NM_032119.4(ADGRV1):c.13227C>T (p.Phe4409=) rs368497021 0.00001
NM_032119.4(ADGRV1):c.13433+9A>G rs186025461 0.00001
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile) rs754162988 0.00001
NM_032119.4(ADGRV1):c.13868C>T (p.Ser4623Phe) rs766619723 0.00001
NM_032119.4(ADGRV1):c.1419T>G (p.Asp473Glu) rs771484121 0.00001
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser) rs755079950 0.00001
NM_032119.4(ADGRV1):c.15498G>A (p.Thr5166=) rs745385503 0.00001
NM_032119.4(ADGRV1):c.15560C>T (p.Ala5187Val) rs758664211 0.00001
NM_032119.4(ADGRV1):c.15583C>T (p.Leu5195Phe) rs1460870267 0.00001
NM_032119.4(ADGRV1):c.1707A>C (p.Gln569His) rs1765206666 0.00001
NM_032119.4(ADGRV1):c.17204+12T>C rs1766179569 0.00001
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) rs766197164 0.00001
NM_032119.4(ADGRV1):c.18515A>G (p.Asn6172Ser) rs774995411 0.00001
NM_032119.4(ADGRV1):c.18610G>A (p.Gly6204Ser) rs745735875 0.00001
NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val) rs1463493906 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.2340T>C (p.Pro780=) rs1486650258 0.00001
NM_032119.4(ADGRV1):c.2409G>T (p.Gly803=) rs746915145 0.00001
NM_032119.4(ADGRV1):c.2539G>A (p.Asp847Asn) rs1487161620 0.00001
NM_032119.4(ADGRV1):c.2666T>C (p.Ile889Thr) rs780130028 0.00001
NM_032119.4(ADGRV1):c.3129G>A (p.Gly1043=) rs753443586 0.00001
NM_032119.4(ADGRV1):c.3133G>C (p.Ala1045Pro) rs372262361 0.00001
NM_032119.4(ADGRV1):c.3185T>C (p.Ile1062Thr) rs1018814935 0.00001
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp) rs750334086 0.00001
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr) rs761253411 0.00001
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala) rs776663458 0.00001
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) rs111033484 0.00001
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329 0.00001
NM_032119.4(ADGRV1):c.4378+11T>C rs1225844494 0.00001
NM_032119.4(ADGRV1):c.5207A>G (p.Asp1736Gly) rs773201854 0.00001
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys) rs367621359 0.00001
NM_032119.4(ADGRV1):c.6062T>C (p.Met2021Thr) rs1745278727 0.00001
NM_032119.4(ADGRV1):c.6235C>T (p.Leu2079Phe) rs529727564 0.00001
NM_032119.4(ADGRV1):c.6469G>A (p.Val2157Met) rs144723817 0.00001
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu) rs777260815 0.00001
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser) rs373807911 0.00001
NM_032119.4(ADGRV1):c.7334A>G (p.Lys2445Arg) rs762036043 0.00001
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile) rs1746861436 0.00001
NM_032119.4(ADGRV1):c.7464G>C (p.Arg2488Ser) rs766683035 0.00001
NM_032119.4(ADGRV1):c.7754T>C (p.Ile2585Thr) rs1229881653 0.00001
NM_032119.4(ADGRV1):c.777T>C (p.Asn259=) rs775845081 0.00001
NM_032119.4(ADGRV1):c.7866C>T (p.Val2622=) rs756284324 0.00001
NM_032119.4(ADGRV1):c.8068A>G (p.Thr2690Ala) rs765530046 0.00001
NM_032119.4(ADGRV1):c.8169A>G (p.Gln2723=) rs1026514423 0.00001
NM_032119.4(ADGRV1):c.8287-1G>C rs1359811582 0.00001
NM_032119.4(ADGRV1):c.8668A>G (p.Ile2890Val) rs768539100 0.00001
NM_032119.4(ADGRV1):c.8769T>C (p.Asn2923=) rs753086932 0.00001
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879 0.00001
NM_032119.4(ADGRV1):c.9314G>A (p.Arg3105Gln) rs762116905 0.00001
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr) rs533540279 0.00001
NM_032119.4(ADGRV1):c.961G>T (p.Asp321Tyr) rs779442763 0.00001
NM_032119.4(ADGRV1):c.9765G>A (p.Val3255=) rs1051488396 0.00001
NM_032119.4(ADGRV1):c.9992A>G (p.Asn3331Ser) rs757644038 0.00001
NM_032193.4(RNASEH2C):c.*178C>G rs3180585 0.00001
NM_032193.4(RNASEH2C):c.*27C>G rs886048500 0.00001
NM_032193.4(RNASEH2C):c.*374T>G rs533143132 0.00001
NM_032193.4(RNASEH2C):c.*719T>G rs886048492 0.00001
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly) rs374512840 0.00001
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg) rs1857363681 0.00001
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr) rs912731829 0.00001
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu) rs1310807864 0.00001
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val) rs767413437 0.00001
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val) rs1284081456 0.00001
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met) rs1857352830 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032193.4(RNASEH2C):c.348+1G>A rs747248530 0.00001
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val) rs751248914 0.00001
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser) rs143452727 0.00001
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys) rs1426277096 0.00001
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn) rs781376271 0.00001
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr) rs757866333 0.00001
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr) rs759118175 0.00001
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly) rs771823743 0.00001
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe) rs1261921914 0.00001
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile) rs1234973794 0.00001
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu) rs11557810 0.00001
NM_032237.5(POMK):c.115G>A (p.Asp39Asn) rs775170725 0.00001
NM_032237.5(POMK):c.1A>G (p.Met1Val) rs1432594936 0.00001
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552 0.00001
NM_032237.5(POMK):c.326A>G (p.Gln109Arg) rs766606876 0.00001
NM_032237.5(POMK):c.334A>G (p.Ser112Gly) rs765276659 0.00001
NM_032237.5(POMK):c.3G>C (p.Met1Ile) rs757689822 0.00001
NM_032237.5(POMK):c.46G>A (p.Glu16Lys) rs760216520 0.00001
NM_032237.5(POMK):c.49G>T (p.Val17Leu) rs1811486866 0.00001
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333 0.00001
NM_032237.5(POMK):c.580C>T (p.His194Tyr) rs565775459 0.00001
NM_032237.5(POMK):c.619G>A (p.Asp207Asn) rs748538450 0.00001
NM_032237.5(POMK):c.620A>G (p.Asp207Gly) rs770018377 0.00001
NM_032237.5(POMK):c.663C>A (p.Phe221Leu) rs145931566 0.00001
NM_032237.5(POMK):c.688G>A (p.Ala230Thr) rs1018638122 0.00001
NM_032237.5(POMK):c.808G>A (p.Asp270Asn) rs1295331795 0.00001
NM_032237.5(POMK):c.833A>G (p.Glu278Gly) rs757600130 0.00001
NM_032237.5(POMK):c.926T>C (p.Ile309Thr) rs750736847 0.00001
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) rs569985954 0.00001
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) rs753747801 0.00001
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) rs919986813 0.00001
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro) rs1297627583 0.00001
NM_032492.4(JAGN1):c.319A>G (p.Met107Val) rs776475085 0.00001
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val) rs762026143 0.00001
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys) rs779485881 0.00001
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) rs749080431 0.00001
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg) rs1387440057 0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) rs748123071 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NM_032575.3(GLIS2):c.*1583del rs886052000 0.00001
NM_032575.3(GLIS2):c.*516C>T rs982214507 0.00001
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NM_032575.3(GLIS2):c.1510T>C (p.Leu504=) rs568866303 0.00001
NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) rs745941117 0.00001
NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu) rs771450245 0.00001
NM_032575.3(GLIS2):c.346-4C>G rs990927651 0.00001
NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg) rs747387534 0.00001
NM_032575.3(GLIS2):c.747C>T (p.Asn249=) rs763296256 0.00001
NM_032808.7(LINGO1):c.1825G>A (p.Ala609Thr) rs367728067 0.00001
NM_033028.5(BBS4):c.*581T>A rs936319236 0.00001
NM_033028.5(BBS4):c.*643A>C rs886051469 0.00001
NM_033028.5(BBS4):c.1029C>T (p.Leu343=) rs1000977139 0.00001
NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln) rs560253658 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1107G>A (p.Lys369=) rs773893992 0.00001
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val) rs1419955498 0.00001
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947 0.00001
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro) rs569462424 0.00001
NM_033028.5(BBS4):c.1248+5G>A rs756449572 0.00001
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp) rs914591602 0.00001
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala) rs767070801 0.00001
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250 0.00001
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp) rs754157578 0.00001
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr) rs765715632 0.00001
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln) rs201230357 0.00001
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070 0.00001
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln) rs1050164962 0.00001
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser) rs1214182249 0.00001
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr) rs760480986 0.00001
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr) rs1307094685 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg) rs916245903 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.214G>A (p.Val72Ile) rs749578199 0.00001
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232 0.00001
NM_033028.5(BBS4):c.23C>T (p.Thr8Met) rs769894375 0.00001
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg) rs2065449512 0.00001
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn) rs766485888 0.00001
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu) rs1040144478 0.00001
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr) rs530223854 0.00001
NM_033028.5(BBS4):c.461C>T (p.Ala154Val) rs756744863 0.00001
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403 0.00001
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu) rs751076253 0.00001
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser) rs371598044 0.00001
NM_033028.5(BBS4):c.5C>T (p.Ala2Val) rs923399180 0.00001
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser) rs916749492 0.00001
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309 0.00001
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln) rs775955872 0.00001
NM_033028.5(BBS4):c.684A>C (p.Ala228=) rs35132058 0.00001
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala) rs569388336 0.00001
NM_033028.5(BBS4):c.706T>C (p.Tyr236His) rs746172575 0.00001
NM_033028.5(BBS4):c.760G>A (p.Val254Ile) rs532770420 0.00001
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu) rs748048479 0.00001
NM_033028.5(BBS4):c.852G>T (p.Lys284Asn) rs12373005 0.00001
NM_033028.5(BBS4):c.863C>T (p.Ala288Val) rs772051835 0.00001
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln) rs121434632 0.00001
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys) rs199831925 0.00001
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr) rs1178593849 0.00001
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu) rs774619624 0.00001
NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg) rs781324011 0.00001
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr) rs1415736170 0.00001
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn) rs768952458 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs) rs748611625 0.00001
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=) rs775752587 0.00001
NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu) rs1339913420 0.00001
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061 0.00001
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021 0.00001
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser) rs775203432 0.00001
NM_033056.4(PCDH15):c.5655C>T (p.His1885=) rs758953502 0.00001
NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro) rs759950014 0.00001
NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly) rs774976789 0.00001
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly) rs763251067 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_033056.4(PCDH15):c.5847C>G (p.His1949Gln) rs778841983 0.00001
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980 0.00001
NM_033064.5(ATCAY):c.*1181G>A rs530991790 0.00001
NM_033064.5(ATCAY):c.*2356C>T rs886054425 0.00001
NM_033064.5(ATCAY):c.*3124C>T rs2039079791 0.00001
NM_033064.5(ATCAY):c.*612C>T rs2039056211 0.00001
NM_033064.5(ATCAY):c.-176C>T rs911941440 0.00001
NM_033064.5(ATCAY):c.-41-13G>A rs529428286 0.00001
NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser) rs756401076 0.00001
NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr) rs756591751 0.00001
NM_033064.5(ATCAY):c.402C>T (p.Ser134=) rs564040857 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser) rs765715997 0.00001
NM_033629.6(TREX1):c.212T>C (p.Val71Ala) rs145208844 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) rs986003279 0.00001
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu) rs561454996 0.00001
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr) rs748535974 0.00001
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr) rs1158056849 0.00001
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro) rs2040338083 0.00001
NM_033629.6(TREX1):c.281C>T (p.Ala94Val) rs774538797 0.00001
NM_033629.6(TREX1):c.284A>G (p.His95Arg) rs368972486 0.00001
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser) rs763817243 0.00001
NM_033629.6(TREX1):c.29C>A (p.Pro10His) rs1460993756 0.00001
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) rs770158462 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu) rs765151974 0.00001
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534 0.00001
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr) rs200510205 0.00001
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437 0.00001
NM_033629.6(TREX1):c.427C>G (p.Leu143Val) rs576033124 0.00001
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn) rs200309956 0.00001
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly) rs759481016 0.00001
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys) rs1479030388 0.00001
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala) rs1176739791 0.00001
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) rs201954133 0.00001
NM_033629.6(TREX1):c.5G>T (p.Gly2Val) rs199519507 0.00001
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg) rs769993269 0.00001
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr) rs1356174769 0.00001
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro) rs142082672 0.00001
NM_033629.6(TREX1):c.695T>G (p.Met232Arg) rs373284647 0.00001
NM_033629.6(TREX1):c.740C>T (p.Ala247Val) rs201503409 0.00001
NM_033629.6(TREX1):c.767del (p.Thr256fs) rs1302856977 0.00001
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn) rs1225568750 0.00001
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser) rs867148059 0.00001
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe) rs11548268 0.00001
NM_033629.6(TREX1):c.833A>T (p.Asp278Val) rs2040383072 0.00001
NM_033629.6(TREX1):c.846A>G (p.Leu282=) rs374232562 0.00001
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser) rs1407557314 0.00001
NM_033629.6(TREX1):c.877C>G (p.Leu293Val) rs759839987 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg) rs772805032 0.00001
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) rs755138065 0.00001
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1067A>C (p.His356Pro) rs1064796598 0.00001
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys) rs965712410 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg) rs1203426032 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.1851+5C>T rs375595062 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) rs779236550 0.00001
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys) rs1332128088 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His) rs1298243007 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys) rs765190529 0.00001
NM_052989.3(IFT122):c.2887-3C>T rs773452716 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) rs147517019 0.00001
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu) rs373326394 0.00001
NM_052989.3(IFT122):c.349+4C>T rs753626217 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr) rs773531126 0.00001
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys) rs775510906 0.00001
NM_080628.3(TLDC2):c.*18-34C>G rs570535296 0.00001
NM_080628.3(TLDC2):c.*18-578G>A rs1414917474 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) rs1268538634 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130837.3(OPA1):c.861C>G (p.Ile287Met) rs1732782708 0.00001
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) rs904746365 0.00001
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile) rs139322919 0.00001
NM_133379.5(TTN):c.11360del (p.Glu3787fs) rs1309605744 0.00001
NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu) rs200512885 0.00001
NM_133379.5(TTN):c.14139C>T (p.Asp4713=) rs371388583 0.00001
NM_133379.5(TTN):c.15379A>G (p.Thr5127Ala) rs745702519 0.00001
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter) rs397517821 0.00001
NM_133379.5(TTN):c.16529del (p.Val5510fs) rs774991940 0.00001
NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser) rs1329800608 0.00001
NM_138387.4(G6PC3):c.-149G>A rs1567967341 0.00001
NM_138387.4(G6PC3):c.-48G>A rs746461072 0.00001
NM_138387.4(G6PC3):c.1022C>T (p.Pro341Leu) rs762536153 0.00001
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) rs1347079621 0.00001
NM_138387.4(G6PC3):c.11C>T (p.Thr4Met) rs750937874 0.00001
NM_138387.4(G6PC3):c.281C>T (p.Pro94Leu) rs1356446581 0.00001
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) rs1336165706 0.00001
NM_138387.4(G6PC3):c.380C>T (p.Thr127Met) rs748177654 0.00001
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) rs762486955 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_138387.4(G6PC3):c.536-3T>G rs752548565 0.00001
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) rs748638373 0.00001
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) rs758281781 0.00001
NM_138387.4(G6PC3):c.677+4A>G rs1356008417 0.00001
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) rs763307095 0.00001
NM_138387.4(G6PC3):c.773C>T (p.Ala258Val) rs1016698344 0.00001
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) rs749505455 0.00001
NM_138387.4(G6PC3):c.821G>A (p.Arg274His) rs773183765 0.00001
NM_138387.4(G6PC3):c.823C>T (p.Arg275Trp) rs200393998 0.00001
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) rs779143230 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) rs1052762189 0.00001
NM_138691.3(TMC1):c.*51G>A rs771430357 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1594G>A (p.Val532Ile) rs759289124 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) rs1481117336 0.00001
NM_138694.4(PKHD1):c.*1376A>G rs886061602 0.00001
NM_138694.4(PKHD1):c.*1789G>A rs763964515 0.00001
NM_138694.4(PKHD1):c.*1933G>A rs886061598 0.00001
NM_138694.4(PKHD1):c.*2304_*2305insA rs886061596 0.00001
NM_138694.4(PKHD1):c.*27G>A rs764352165 0.00001
NM_138694.4(PKHD1):c.*3030A>G rs1277165962 0.00001
NM_138694.4(PKHD1):c.*3269C>A rs886061593 0.00001
NM_138694.4(PKHD1):c.-223G>A rs886061626 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys) rs754382673 0.00001
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.10655C>T (p.Pro3552Leu) rs1002017976 0.00001
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys) rs557405366 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu) rs906560282 0.00001
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln) rs775097870 0.00001
NM_138694.4(PKHD1):c.11507-5C>T rs886061609 0.00001
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro) rs1180404523 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr) rs371652243 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11786-3C>A rs746467881 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter) rs780097121 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) rs778545068 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 0.00001
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met) rs765645325 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1594G>A (p.Ala532Thr) rs367837640 0.00001
NM_138694.4(PKHD1):c.1693+10G>A rs886061621 0.00001
NM_138694.4(PKHD1):c.1721A>T (p.Asp574Val) rs767122237 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile) rs769095204 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418 0.00001
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser) rs1161554442 0.00001
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2280-4A>T rs549804372 0.00001
NM_138694.4(PKHD1):c.2377C>T (p.Arg793Cys) rs779653146 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2592+6T>C rs746058715 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala) rs922828020 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.2788A>G (p.Thr930Ala) rs144387673 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.31A>G (p.Ile11Val) rs765389565 0.00001
NM_138694.4(PKHD1):c.3329T>C (p.Ile1110Thr) rs772369540 0.00001
NM_138694.4(PKHD1):c.3338T>G (p.Leu1113Arg) rs746070060 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val) rs746874144 0.00001
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys) rs774865280 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.3983T>C (p.Val1328Ala) rs767017869 0.00001
NM_138694.4(PKHD1):c.4130A>C (p.Asn1377Thr) rs773345692 0.00001
NM_138694.4(PKHD1):c.414C>T (p.Ile138=) rs368595925 0.00001
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu) rs778541098 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.4403T>C (p.Leu1468Pro) rs140331370 0.00001
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly) rs1271610315 0.00001
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp) rs758834151 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.4904C>T (p.Ala1635Val) rs1270680534 0.00001
NM_138694.4(PKHD1):c.4918G>A (p.Val1640Ile) rs1396314967 0.00001
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala) rs1302500833 0.00001
NM_138694.4(PKHD1):c.5069C>T (p.Ser1690Leu) rs1801882752 0.00001
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr) rs759619749 0.00001
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) rs754333450 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser) rs746705122 0.00001
NM_138694.4(PKHD1):c.5364G>C (p.Leu1788Phe) rs780332791 0.00001
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) rs549418638 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.6142G>T (p.Val2048Phe) rs767464186 0.00001
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447 0.00001
NM_138694.4(PKHD1):c.6187G>A (p.Ala2063Thr) rs772835579 0.00001
NM_138694.4(PKHD1):c.6280G>A (p.Val2094Ile) rs1314635548 0.00001
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210 0.00001
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) rs1554290169 0.00001
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599 0.00001
NM_138694.4(PKHD1):c.722A>G (p.Lys241Arg) rs763591478 0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) rs200807210 0.00001
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val) rs1280884139 0.00001
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7414A>G (p.Thr2472Ala) rs137972951 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7600A>G (p.Lys2534Glu) rs1392464284 0.00001
NM_138694.4(PKHD1):c.7619T>C (p.Leu2540Pro) rs761681284 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.7715A>T (p.His2572Leu) rs765237487 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.7733+15C>A rs771759749 0.00001
NM_138694.4(PKHD1):c.7742C>T (p.Thr2581Ile) rs1447744840 0.00001
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn) rs1375719978 0.00001
NM_138694.4(PKHD1):c.7847T>C (p.Leu2616Pro) rs772556933 0.00001
NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu) rs1448998543 0.00001
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) rs776654447 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8212C>G (p.Leu2738Val) rs761723122 0.00001
NM_138694.4(PKHD1):c.8283T>A (p.Asp2761Glu) rs1381302226 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) rs746096431 0.00001
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser) rs369941024 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys) rs148990124 0.00001
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8788C>T (p.Arg2930Trp) rs752776137 0.00001
NM_138694.4(PKHD1):c.8825G>A (p.Arg2942Gln) rs772538453 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile) rs768138709 0.00001
NM_138694.4(PKHD1):c.8860A>G (p.Thr2954Ala) rs1292890415 0.00001
NM_138694.4(PKHD1):c.8948C>T (p.Ser2983Leu) rs141169758 0.00001
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00001
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile) rs768508521 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp) rs745922825 0.00001
NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu) rs763543231 0.00001
NM_139319.3(SLC17A8):c.*1077A>G rs1268202148 0.00001
NM_139319.3(SLC17A8):c.*1223T>A rs943950152 0.00001
NM_139319.3(SLC17A8):c.*1883T>C rs1440971881 0.00001
NM_139319.3(SLC17A8):c.*540A>G rs1374989730 0.00001
NM_139319.3(SLC17A8):c.*541G>C rs1231058954 0.00001
NM_139319.3(SLC17A8):c.-32T>G rs760431477 0.00001
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) rs760003512 0.00001
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) rs1168855290 0.00001
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) rs773887574 0.00001
NM_139319.3(SLC17A8):c.354+7A>T rs886048787 0.00001
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) rs1203098049 0.00001
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) rs751132044 0.00001
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) rs775494528 0.00001
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) rs1355424178 0.00001
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) rs965561469 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) rs577812854 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) rs1268978517 0.00001
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) rs769252326 0.00001
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) rs777951748 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) rs769199881 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1461+6A>T rs972060066 0.00001
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) rs371571307 0.00001
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) rs777452575 0.00001
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) rs755351031 0.00001
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) rs763458588 0.00001
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) rs765354438 0.00001
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) rs369549551 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) rs1682474004 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) rs759691190 0.00001
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) rs1466748456 0.00001
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) rs532260569 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.434G>A (p.Arg145His) rs1219115067 0.00001
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) rs764377144 0.00001
NM_139343.3(BIN1):c.519+4A>G rs1429919147 0.00001
NM_139343.3(BIN1):c.520-3C>A rs1455432609 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) rs777940512 0.00001
NM_139343.3(BIN1):c.57G>C (p.Gln19His) rs142657993 0.00001
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) rs762897872 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) rs777898974 0.00001
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) rs975404965 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.84+1G>A rs1364583460 0.00001
NM_139343.3(BIN1):c.85-5G>A rs371593265 0.00001
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) rs1490772170 0.00001
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) rs1160778854 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) rs748381039 0.00001
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) rs781377841 0.00001
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) rs753614814 0.00001
NM_144508.5(KNL1):c.1203T>C (p.Thr401=) rs983035581 0.00001
NM_144508.5(KNL1):c.1291T>C (p.Ser431Pro) rs777990077 0.00001
NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser) rs781329861 0.00001
NM_144508.5(KNL1):c.144T>C (p.Asn48=) rs763938698 0.00001
NM_144508.5(KNL1):c.1509A>G (p.Gln503=) rs748514171 0.00001
NM_144508.5(KNL1):c.1636A>G (p.Arg546Gly) rs771812329 0.00001
NM_144508.5(KNL1):c.2012A>C (p.Asn671Thr) rs201277974 0.00001
NM_144508.5(KNL1):c.2323G>T (p.Gly775Cys) rs754128699 0.00001
NM_144508.5(KNL1):c.2491G>A (p.Glu831Lys) rs1428077119 0.00001
NM_144508.5(KNL1):c.250+3A>G rs768577383 0.00001
NM_144508.5(KNL1):c.2634T>C (p.Tyr878=) rs774999750 0.00001
NM_144508.5(KNL1):c.3139G>A (p.Asp1047Asn) rs1456646458 0.00001
NM_144508.5(KNL1):c.3328T>G (p.Leu1110Val) rs779935052 0.00001
NM_144508.5(KNL1):c.6215A>G (p.Asn2072Ser) rs778618588 0.00001
NM_144508.5(KNL1):c.6439C>T (p.Arg2147Cys) rs769307594 0.00001
NM_144508.5(KNL1):c.744G>A (p.Pro248=) rs565734208 0.00001
NM_144508.5(KNL1):c.949G>A (p.Asp317Asn) rs777453983 0.00001
NM_144596.4(TTC8):c.103C>T (p.Pro35Ser) rs762461640 0.00001
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.1171G>C (p.Glu391Gln) rs1253282084 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1224+19A>G rs1329774650 0.00001
NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile) rs575952395 0.00001
NM_144596.4(TTC8):c.1352G>A (p.Arg451Lys) rs772498950 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val) rs1244721977 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.1544T>C (p.Leu515Pro) rs2094961758 0.00001
NM_144596.4(TTC8):c.175A>G (p.Thr59Ala) rs1335402056 0.00001
NM_144596.4(TTC8):c.265C>T (p.Arg89Cys) rs747646200 0.00001
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877 0.00001
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp) rs758294605 0.00001
NM_144596.4(TTC8):c.355A>G (p.Ile119Val) rs1188208020 0.00001
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser) rs771327965 0.00001
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn) rs761817038 0.00001
NM_144596.4(TTC8):c.415A>G (p.Ile139Val) rs766062841 0.00001
NM_144596.4(TTC8):c.436T>C (p.Tyr146His) rs747125124 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn) rs753995884 0.00001
NM_144596.4(TTC8):c.631G>T (p.Asp211Tyr) rs377540438 0.00001
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) rs1295139564 0.00001
NM_144596.4(TTC8):c.744T>G (p.Phe248Leu) rs1411331497 0.00001
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp) rs1413362477 0.00001
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) rs1220094479 0.00001
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp) rs761833391 0.00001
NM_144709.4(PUS10):c.-16+151A>G rs1291662088 0.00001
NM_144772.3(NAXE):c.385C>G (p.Arg129Gly) rs747476913 0.00001
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser) rs1037456370 0.00001
NM_145014.3(HYLS1):c.-503G>A rs886047937 0.00001
NM_145309.6(LRTOMT):c.230A>G (p.His77Arg) rs1382614042 0.00001
NM_145702.4(TIGD1):c.*2322A>C rs1259742484 0.00001
NM_145861.4(EDARADD):c.*12T>C rs568663942 0.00001
NM_145861.4(EDARADD):c.*1535C>T rs202115969 0.00001
NM_145861.4(EDARADD):c.*1809C>T rs878900513 0.00001
NM_145861.4(EDARADD):c.*1871C>T rs886046197 0.00001
NM_145861.4(EDARADD):c.*719C>T rs188977509 0.00001
NM_145861.4(EDARADD):c.*920C>T rs1242190032 0.00001
NM_145861.4(EDARADD):c.121-6C>G rs1476912628 0.00001
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) rs751704449 0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) rs748587639 0.00001
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) rs483352767 0.00001
NM_147127.5(EVC2):c.*68T>C rs886059470 0.00001
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu) rs769178878 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg) rs577020845 0.00001
NM_147127.5(EVC2):c.2424G>C (p.Gln808His) rs541956407 0.00001
NM_147127.5(EVC2):c.2706+5G>T rs747272944 0.00001
NM_147127.5(EVC2):c.2707-3C>T rs755042717 0.00001
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys) rs761946397 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe) rs897972159 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met) rs775202977 0.00001
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) rs748514374 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His) rs1346353134 0.00001
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn) rs752599166 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.451-15T>C rs554022197 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly) rs765973029 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_147196.3(TMIE):c.*47T>A rs1700597797 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_147196.3(TMIE):c.64C>T (p.Leu22Phe) rs1700477304 0.00001
NM_148919.4(PSMB8):c.*178G>A rs886061309 0.00001
NM_148919.4(PSMB8):c.*57C>T rs1371496516 0.00001
NM_148919.4(PSMB8):c.180C>T (p.Asp60=) rs757858465 0.00001
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg) rs1007524117 0.00001
NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile) rs140150936 0.00001
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp) rs201142158 0.00001
NM_148919.4(PSMB8):c.316G>A (p.Val106Met) rs1254158106 0.00001
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile) rs754243092 0.00001
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser) rs767636318 0.00001
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys) rs757343575 0.00001
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln) rs1181818643 0.00001
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr) rs749800130 0.00001
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser) rs372030309 0.00001
NM_148919.4(PSMB8):c.492C>T (p.Gly164=) rs369474146 0.00001
NM_148919.4(PSMB8):c.493A>G (p.Met165Val) rs747199589 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr) rs767937121 0.00001
NM_148919.4(PSMB8):c.710A>G (p.His237Arg) rs1361855322 0.00001
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr) rs1582602825 0.00001
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg) rs1244934291 0.00001
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.259-3C>T rs564412855 0.00001
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln) rs931751345 0.00001
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys) rs763784832 0.00001
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) rs758307712 0.00001
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) rs375992092 0.00001
NM_152384.3(BBS5):c.364A>G (p.Thr122Ala) rs1244656681 0.00001
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) rs1683625962 0.00001
NM_152384.3(BBS5):c.60-10T>G rs1224093899 0.00001
NM_152384.3(BBS5):c.664A>G (p.Ile222Val) rs146488006 0.00001
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe) rs770319545 0.00001
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) rs759233586 0.00001
NM_152384.3(BBS5):c.887C>T (p.Thr296Met) rs755594935 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) rs1395749164 0.00001
NM_152443.3(RDH12):c.165G>A (p.Thr55=) rs751674066 0.00001
NM_152443.3(RDH12):c.277C>T (p.Leu93=) rs143278615 0.00001
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) rs374675592 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.465C>T (p.Thr155=) rs749242059 0.00001
NM_152443.3(RDH12):c.525G>A (p.Ser175=) rs756315539 0.00001
NM_152443.3(RDH12):c.578G>A (p.Arg193His) rs567973980 0.00001
NM_152443.3(RDH12):c.658+7C>T rs762391730 0.00001
NM_152443.3(RDH12):c.709C>G (p.Leu237Val) rs1377743038 0.00001
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) rs777424197 0.00001
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp) rs773048895 0.00001
NM_152617.4(RNF168):c.237A>G (p.Ile79Met) rs148808853 0.00001
NM_152618.3(BBS12):c.*803_*804insT rs1332628916 0.00001
NM_152618.3(BBS12):c.1064G>A (p.Arg355Gln) rs1474900361 0.00001
NM_152618.3(BBS12):c.1085A>G (p.Asp362Gly) rs1800908966 0.00001
NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser) rs765821625 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg) rs763765486 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile) rs538077275 0.00001
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg) rs373652329 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg) rs144910481 0.00001
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val) rs775189952 0.00001
NM_152618.3(BBS12):c.1490T>C (p.Ile497Thr) rs754049744 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493 0.00001
NM_152618.3(BBS12):c.1573C>T (p.Arg525Cys) rs760420127 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059 0.00001
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val) rs755314355 0.00001
NM_152618.3(BBS12):c.1658T>A (p.Leu553His) rs753004315 0.00001
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser) rs1800929603 0.00001
NM_152618.3(BBS12):c.1686C>A (p.Asn562Lys) rs778686947 0.00001
NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu) rs767882942 0.00001
NM_152618.3(BBS12):c.1823A>G (p.Asn608Ser) rs184225705 0.00001
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala) rs771057055 0.00001
NM_152618.3(BBS12):c.1883A>G (p.Asp628Gly) rs758135703 0.00001
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr) rs748009027 0.00001
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn) rs1361081580 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.1935T>G (p.Ser645Arg) rs905750251 0.00001
NM_152618.3(BBS12):c.2016G>A (p.Ala672=) rs186713451 0.00001
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala) rs759180956 0.00001
NM_152618.3(BBS12):c.37C>T (p.His13Tyr) rs964582500 0.00001
NM_152618.3(BBS12):c.382G>A (p.Val128Ile) rs375439566 0.00001
NM_152618.3(BBS12):c.508A>G (p.Ile170Val) rs1218692709 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.715A>T (p.Arg239Trp) rs1800898589 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_152618.3(BBS12):c.830A>G (p.His277Arg) rs1456373861 0.00001
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser) rs1399257163 0.00001
NM_153240.5(NPHP3):c.*1098C>T rs886057995 0.00001
NM_153240.5(NPHP3):c.*139T>G rs886058001 0.00001
NM_153240.5(NPHP3):c.*351A>T rs992880401 0.00001
NM_153240.5(NPHP3):c.*692C>T rs886057997 0.00001
NM_153240.5(NPHP3):c.1091T>C (p.Ile364Thr) rs1186561814 0.00001
NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu) rs747256150 0.00001
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu) rs753467164 0.00001
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) rs755094682 0.00001
NM_153240.5(NPHP3):c.1288T>G (p.Ser430Ala) rs151118635 0.00001
NM_153240.5(NPHP3):c.1294G>A (p.Asp432Asn) rs947907684 0.00001
NM_153240.5(NPHP3):c.1396G>A (p.Gly466Ser) rs1241694746 0.00001
NM_153240.5(NPHP3):c.1399A>G (p.Ser467Gly) rs751944855 0.00001
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val) rs200659972 0.00001
NM_153240.5(NPHP3):c.146C>T (p.Ala49Val) rs763420553 0.00001
NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu) rs756807243 0.00001
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg) rs375225209 0.00001
NM_153240.5(NPHP3):c.1537C>T (p.Leu513Phe) rs1250547107 0.00001
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly) rs538317431 0.00001
NM_153240.5(NPHP3):c.1654C>A (p.Pro552Thr) rs776287337 0.00001
NM_153240.5(NPHP3):c.1658A>G (p.Asn553Ser) rs373846495 0.00001
NM_153240.5(NPHP3):c.1690C>T (p.Pro564Ser) rs749602646 0.00001
NM_153240.5(NPHP3):c.1712C>T (p.Ser571Phe) rs748309289 0.00001
NM_153240.5(NPHP3):c.1738C>G (p.Leu580Val) rs1399616263 0.00001
NM_153240.5(NPHP3):c.1747A>T (p.Met583Leu) rs1397511848 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.1841A>G (p.His614Arg) rs1346771272 0.00001
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met) rs780013712 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 0.00001
NM_153240.5(NPHP3):c.1975C>T (p.Pro659Ser) rs1007912862 0.00001
NM_153240.5(NPHP3):c.2008G>C (p.Asp670His) rs372339999 0.00001
NM_153240.5(NPHP3):c.2060C>T (p.Ser687Phe) rs1017195284 0.00001
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His) rs139548649 0.00001
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) rs1451958461 0.00001
NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg) rs1217928367 0.00001
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu) rs772613405 0.00001
NM_153240.5(NPHP3):c.2269G>C (p.Glu757Gln) rs776113044 0.00001
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu) rs777858346 0.00001
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725 0.00001
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu) rs1303757034 0.00001
NM_153240.5(NPHP3):c.2516C>G (p.Thr839Ser) rs1268939572 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.262G>T (p.Ala88Ser) rs1233421790 0.00001
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro) rs747876996 0.00001
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile) rs370506189 0.00001
NM_153240.5(NPHP3):c.2883+5G>A rs948593540 0.00001
NM_153240.5(NPHP3):c.2894C>T (p.Pro965Leu) rs368791854 0.00001
NM_153240.5(NPHP3):c.289G>A (p.Glu97Lys) rs1188761499 0.00001
NM_153240.5(NPHP3):c.2905T>A (p.Ser969Thr) rs762539833 0.00001
NM_153240.5(NPHP3):c.2934T>A (p.Asp978Glu) rs141960792 0.00001
NM_153240.5(NPHP3):c.2948G>A (p.Arg983Lys) rs909410608 0.00001
NM_153240.5(NPHP3):c.2981T>A (p.Val994Glu) rs564239365 0.00001
NM_153240.5(NPHP3):c.3037G>C (p.Glu1013Gln) rs762836818 0.00001
NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg) rs934058701 0.00001
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266 0.00001
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala) rs371290162 0.00001
NM_153240.5(NPHP3):c.3280C>T (p.Arg1094Trp) rs759495075 0.00001
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser) rs1157229330 0.00001
NM_153240.5(NPHP3):c.3304C>G (p.Leu1102Val) rs779376432 0.00001
NM_153240.5(NPHP3):c.334A>G (p.Met112Val) rs1465252607 0.00001
NM_153240.5(NPHP3):c.3352C>T (p.Arg1118Cys) rs757710406 0.00001
NM_153240.5(NPHP3):c.3353G>A (p.Arg1118His) rs749623594 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg) rs200287294 0.00001
NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys) rs1188632308 0.00001
NM_153240.5(NPHP3):c.3493C>T (p.Arg1165Trp) rs1330141890 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys) rs201135796 0.00001
NM_153240.5(NPHP3):c.3507A>T (p.Leu1169Phe) rs1468602074 0.00001
NM_153240.5(NPHP3):c.3532T>C (p.Tyr1178His) rs113637009 0.00001
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=) rs761585621 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3680T>C (p.Val1227Ala) rs1464247795 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3706G>A (p.Val1236Ile) rs985289177 0.00001
NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met) rs150019603 0.00001
NM_153240.5(NPHP3):c.3866A>C (p.Glu1289Ala) rs759336230 0.00001
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273 0.00001
NM_153240.5(NPHP3):c.3914G>A (p.Arg1305His) rs781537576 0.00001
NM_153240.5(NPHP3):c.428A>T (p.Glu143Val) rs1576688460 0.00001
NM_153240.5(NPHP3):c.430A>G (p.Lys144Glu) rs745342273 0.00001
NM_153240.5(NPHP3):c.589C>T (p.Leu197Phe) rs111707939 0.00001
NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg) rs757401076 0.00001
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser) rs199956251 0.00001
NM_153240.5(NPHP3):c.686G>A (p.Cys229Tyr) rs1424177439 0.00001
NM_153240.5(NPHP3):c.707C>G (p.Ala236Gly) rs1488359125 0.00001
NM_153240.5(NPHP3):c.767C>T (p.Pro256Leu) rs374171796 0.00001
NM_153240.5(NPHP3):c.783T>G (p.Ser261Arg) rs752050701 0.00001
NM_153240.5(NPHP3):c.800G>C (p.Gly267Ala) rs1467512285 0.00001
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu) rs775337662 0.00001
NM_153240.5(NPHP3):c.896C>T (p.Thr299Ile) rs1940015669 0.00001
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr) rs75288730 0.00001
NM_153676.4(USH1C):c.*140C>T rs886048058 0.00001
NM_153676.4(USH1C):c.-109A>T rs556793498 0.00001
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023 0.00001
NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile) rs746789590 0.00001
NM_153676.4(USH1C):c.1101A>G (p.Glu367=) rs764975771 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812 0.00001
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp) rs868001349 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564 0.00001
NM_153676.4(USH1C):c.192G>A (p.Pro64=) rs1040470628 0.00001
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro) rs1186965957 0.00001
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.2280+15G>A rs886048059 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser) rs727505083 0.00001
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe) rs1309991987 0.00001
NM_153676.4(USH1C):c.2378A>G (p.His793Arg) rs868121889 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2490+6A>C rs1456998238 0.00001
NM_153676.4(USH1C):c.2541T>C (p.Asp847=) rs1849262183 0.00001
NM_153676.4(USH1C):c.2656-1G>A rs747133793 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys) rs747960087 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.538C>G (p.Leu180Val) rs747331051 0.00001
NM_153676.4(USH1C):c.600C>T (p.Gly200=) rs748975874 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153676.4(USH1C):c.789C>G (p.Gly263=) rs376197674 0.00001
NM_153676.4(USH1C):c.851T>A (p.Leu284Gln) rs756485601 0.00001
NM_153676.4(USH1C):c.870T>A (p.Ala290=) rs765955209 0.00001
NM_153676.4(USH1C):c.881G>A (p.Arg294Gln) rs773481791 0.00001
NM_153676.4(USH1C):c.883G>A (p.Glu295Lys) rs200127622 0.00001
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp) rs749821587 0.00001
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln) rs763948115 0.00001
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys) rs760448018 0.00001
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile) rs1392006029 0.00001
NM_153704.6(TMEM67):c.*179T>C rs886063174 0.00001
NM_153704.6(TMEM67):c.*761T>G rs553442637 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln) rs1166437802 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) rs1461948623 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_153717.3(EVC):c.*1008G>A rs1217574266 0.00001
NM_153717.3(EVC):c.*1374G>C rs549720489 0.00001
NM_153717.3(EVC):c.*1446A>G rs754781931 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.*2686G>A rs545215581 0.00001
NM_153717.3(EVC):c.*2922A>C rs886059518 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=) rs913909906 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly) rs1418345759 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu) rs375340438 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2522C>T (p.Ala841Val) rs1378303023 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.581G>A (p.Arg194Gln) rs777256784 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153747.2(PIGC):c.574C>T (p.Arg192Cys) rs768479943 0.00001
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) rs777542453 0.00001
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) rs758491411 0.00001
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr) rs2041656946 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_170784.3(MKKS):c.*103A>G rs965771888 0.00001
NM_170784.3(MKKS):c.-22A>C rs531656259 0.00001
NM_170784.3(MKKS):c.-388A>G rs945662294 0.00001
NM_170784.3(MKKS):c.-481T>A rs886056502 0.00001
NM_170784.3(MKKS):c.-562C>T rs886056503 0.00001
NM_170784.3(MKKS):c.-649+2366C>T rs886056504 0.00001
NM_170784.3(MKKS):c.1006C>G (p.Leu336Val) rs759986531 0.00001
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) rs1401483166 0.00001
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr) rs1414454066 0.00001
NM_170784.3(MKKS):c.1106C>T (p.Thr369Ile) rs2064859757 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1226G>T (p.Gly409Val) rs2064852512 0.00001
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys) rs748071139 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile) rs951838467 0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser) rs776235071 0.00001
NM_170784.3(MKKS):c.1291A>G (p.Ser431Gly) rs993196591 0.00001
NM_170784.3(MKKS):c.130A>C (p.Lys44Gln) rs2064910872 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys) rs749139446 0.00001
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp) rs1309710762 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.307A>G (p.Ile103Val) rs771002171 0.00001
NM_170784.3(MKKS):c.31T>A (p.Leu11Met) rs1443376346 0.00001
NM_170784.3(MKKS):c.364C>T (p.His122Tyr) rs148221053 0.00001
NM_170784.3(MKKS):c.430T>C (p.Phe144Leu) rs768539582 0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg) rs1303349629 0.00001
NM_170784.3(MKKS):c.541G>A (p.Ala181Thr) rs1215659134 0.00001
NM_170784.3(MKKS):c.638C>G (p.Thr213Ser) rs780570415 0.00001
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala) rs760185677 0.00001
NM_170784.3(MKKS):c.734G>A (p.Cys245Tyr) rs771767882 0.00001
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg) rs375902906 0.00001
NM_170784.3(MKKS):c.834C>G (p.Asn278Lys) rs575896442 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.8G>A (p.Arg3His) rs770619894 0.00001
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr) rs370219365 0.00001
NM_173477.5(USH1G):c.*1376G>A rs1208854492 0.00001
NM_173477.5(USH1G):c.*1719G>T rs886053384 0.00001
NM_173477.5(USH1G):c.*704G>A rs1032315413 0.00001
NM_173477.5(USH1G):c.*95C>G rs886053388 0.00001
NM_173477.5(USH1G):c.22G>C (p.Ala8Pro) rs779198694 0.00001
NM_173477.5(USH1G):c.344G>A (p.Arg115His) rs775117744 0.00001
NM_173477.5(USH1G):c.436C>T (p.Arg146Cys) rs141791769 0.00001
NM_173477.5(USH1G):c.474C>G (p.His158Gln) rs765860407 0.00001
NM_173551.5(ANKS6):c.1429C>A (p.Arg477Ser) rs770883667 0.00001
NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) rs372265310 0.00001
NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) rs765164797 0.00001
NM_173551.5(ANKS6):c.2612C>T (p.Ala871Val) rs1047225292 0.00001
NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala) rs1057523009 0.00001
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) rs374511363 0.00001
NM_173551.5(ANKS6):c.690G>A (p.Met230Ile) rs201704559 0.00001
NM_173551.5(ANKS6):c.850A>G (p.Arg284Gly) rs781241633 0.00001
NM_173551.5(ANKS6):c.904A>G (p.Met302Val) rs780949680 0.00001
NM_174878.3(CLRN1):c.*815T>C rs1397342628 0.00001
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) rs1231233910 0.00001
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) rs904836940 0.00001
NM_174878.3(CLRN1):c.433+10A>G rs752878216 0.00001
NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly) rs369185342 0.00001
NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe) rs780412161 0.00001
NM_174878.3(CLRN1):c.529G>A (p.Val177Ile) rs753739519 0.00001
NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg) rs374390376 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_176824.3(BBS7):c.*1361A>T rs544492413 0.00001
NM_176824.3(BBS7):c.*996T>C rs886059049 0.00001
NM_176824.3(BBS7):c.-137A>G rs1727529496 0.00001
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val) rs906692940 0.00001
NM_176824.3(BBS7):c.1091A>C (p.Gln364Pro) rs746699644 0.00001
NM_176824.3(BBS7):c.1124C>T (p.Ala375Val) rs749603454 0.00001
NM_176824.3(BBS7):c.1139G>A (p.Gly380Asp) rs921736196 0.00001
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn) rs889491713 0.00001
NM_176824.3(BBS7):c.1190T>C (p.Ile397Thr) rs1725962975 0.00001
NM_176824.3(BBS7):c.1306-5C>T rs1475632900 0.00001
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys) rs776931328 0.00001
NM_176824.3(BBS7):c.1344G>C (p.Gln448His) rs1473005529 0.00001
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg) rs771018739 0.00001
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053 0.00001
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys) rs750133083 0.00001
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr) rs200788672 0.00001
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly) rs746759579 0.00001
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala) rs778439860 0.00001
NM_176824.3(BBS7):c.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala) rs1463083357 0.00001
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val) rs751029709 0.00001
NM_176824.3(BBS7):c.1721C>G (p.Ser574Cys) rs765782762 0.00001
NM_176824.3(BBS7):c.1729A>C (p.Lys577Gln) rs200953128 0.00001
NM_176824.3(BBS7):c.1904A>T (p.His635Leu) rs1233960628 0.00001
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met) rs773771144 0.00001
NM_176824.3(BBS7):c.1960G>C (p.Asp654His) rs143632090 0.00001
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys) rs1044486579 0.00001
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr) rs1342336710 0.00001
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys) rs1013002037 0.00001
NM_176824.3(BBS7):c.2017A>T (p.Met673Leu) rs1436556570 0.00001
NM_176824.3(BBS7):c.257C>T (p.Ala86Val) rs1274597386 0.00001
NM_176824.3(BBS7):c.262T>G (p.Ser88Ala) rs1489244436 0.00001
NM_176824.3(BBS7):c.277T>G (p.Phe93Val) rs750813339 0.00001
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn) rs775395171 0.00001
NM_176824.3(BBS7):c.479G>A (p.Arg160His) rs138270119 0.00001
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg) rs1226167451 0.00001
NM_176824.3(BBS7):c.650C>T (p.Ala217Val) rs370510563 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr) rs766450289 0.00001
NM_176824.3(BBS7):c.786T>A (p.Asp262Glu) rs1437278443 0.00001
NM_176824.3(BBS7):c.849+6T>G rs759955004 0.00001
NM_176824.3(BBS7):c.852G>A (p.Met284Ile) rs771877302 0.00001
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu) rs1275186434 0.00001
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile) rs1488474028 0.00001
NM_176824.3(BBS7):c.964A>G (p.Ile322Val) rs762359988 0.00001
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln) rs778714139 0.00001
NM_177400.3(NKX6-2):c.59A>G (p.His20Arg) rs745907425 0.00001
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly) rs1197547920 0.00001
NM_177965.4(CFAP418):c.414G>A (p.Leu138=) rs150592488 0.00001
NM_177965.4(CFAP418):c.533C>T (p.Ala178Val) rs375314973 0.00001
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly) rs1483148451 0.00001
NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro) rs767780150 0.00001
NM_178170.3(NEK8):c.*382G>A rs1039107679 0.00001
NM_178170.3(NEK8):c.*666C>T rs886052771 0.00001
NM_178170.3(NEK8):c.1000G>A (p.Val334Met) rs771928671 0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178170.3(NEK8):c.1045C>T (p.Arg349Cys) rs889694432 0.00001
NM_178170.3(NEK8):c.1078C>A (p.Pro360Thr) rs368688884 0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) rs199853008 0.00001
NM_178170.3(NEK8):c.1523T>A (p.Met508Lys) rs753200646 0.00001
NM_178170.3(NEK8):c.186T>A (p.Asn62Lys) rs2034337294 0.00001
NM_178170.3(NEK8):c.1925G>A (p.Arg642Gln) rs1284135777 0.00001
NM_178170.3(NEK8):c.2011G>A (p.Val671Met) rs202119105 0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) rs746234904 0.00001
NM_178170.3(NEK8):c.654C>T (p.Gly218=) rs749113560 0.00001
NM_178170.3(NEK8):c.673G>C (p.Asp225His) rs1403766728 0.00001
NM_178170.3(NEK8):c.737G>A (p.Arg246Gln) rs368802852 0.00001
NM_178170.3(NEK8):c.857C>G (p.Thr286Arg) rs903553470 0.00001
NM_178170.3(NEK8):c.935C>T (p.Ser312Leu) rs200212844 0.00001
NM_178170.3(NEK8):c.985A>G (p.Met329Val) rs142234912 0.00001
NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg) rs1300685456 0.00001
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924 0.00001
NM_182548.3(LHFPL5):c.-335A>G rs886061339 0.00001
NM_182548.4(LHFPL5):c.*489C>T rs1768914804 0.00001
NM_182548.4(LHFPL5):c.*501C>G rs1581977965 0.00001
NM_182548.4(LHFPL5):c.*609G>A rs1039461994 0.00001
NM_182548.4(LHFPL5):c.-305G>A rs886061340 0.00001
NM_182548.4(LHFPL5):c.140C>A (p.Pro47His) rs886061343 0.00001
NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) rs147162459 0.00001
NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met) rs372084864 0.00001
NM_182961.4(SYNE1):c.*138A>G rs2051574407 0.00001
NM_182961.4(SYNE1):c.*166G>A rs958754447 0.00001
NM_182961.4(SYNE1):c.*181C>T rs150886628 0.00001
NM_182961.4(SYNE1):c.*368T>C rs927168592 0.00001
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln) rs773410652 0.00001
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly) rs545457219 0.00001
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn) rs1221490895 0.00001
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln) rs368647352 0.00001
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys) rs1212823311 0.00001
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp) rs1289374962 0.00001
NM_182961.4(SYNE1):c.10289G>A (p.Gly3430Glu) rs760727534 0.00001
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser) rs372451128 0.00001
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val) rs1270266905 0.00001
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln) rs1255278240 0.00001
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile) rs886043016 0.00001
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=) rs1246237055 0.00001
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly) rs149532009 0.00001
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys) rs1485693688 0.00001
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln) rs751191478 0.00001
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769 0.00001
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr) rs752209637 0.00001
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu) rs1301268425 0.00001
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser) rs1444678849 0.00001
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala) rs372327585 0.00001
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr) rs2098931321 0.00001
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122 0.00001
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn) rs761089261 0.00001
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn) rs780889581 0.00001
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp) rs572106956 0.00001
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met) rs1554518035 0.00001
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu) rs753931727 0.00001
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu) rs775097525 0.00001
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr) rs772794050 0.00001
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu) rs373095359 0.00001
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961 0.00001
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys) rs746532554 0.00001
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn) rs369515853 0.00001
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly) rs761744256 0.00001
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser) rs780777858 0.00001
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158 0.00001
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile) rs754971865 0.00001
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe) rs1294787806 0.00001
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly) rs767294741 0.00001
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala) rs770374751 0.00001
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser) rs1201675371 0.00001
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu) rs376766873 0.00001
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala) rs1449281199 0.00001
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met) rs2098918498 0.00001
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp) rs1459930095 0.00001
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val) rs769992083 0.00001
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln) rs2096324088 0.00001
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr) rs537532640 0.00001
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr) rs745331052 0.00001
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr) rs200140440 0.00001
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro) rs1384390262 0.00001
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn) rs757271177 0.00001
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu) rs751661906 0.00001
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys) rs752624372 0.00001
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys) rs752661205 0.00001
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg) rs543437113 0.00001
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His) rs34464554 0.00001
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His) rs779970152 0.00001
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val) rs1157664680 0.00001
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr) rs371405185 0.00001
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe) rs768553487 0.00001
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro) rs745789075 0.00001
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser) rs886042314 0.00001
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377 0.00001
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys) rs571224180 0.00001
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala) rs909205583 0.00001
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg) rs747550581 0.00001
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile) rs973116936 0.00001
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro) rs762392590 0.00001
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu) rs377099959 0.00001
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser) rs1362233016 0.00001
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu) rs374697325 0.00001
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu) rs1166869172 0.00001
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys) rs367979558 0.00001
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp) rs1469601635 0.00001
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn) rs765759628 0.00001
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile) rs952688216 0.00001
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr) rs759856569 0.00001
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu) rs141752799 0.00001
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn) rs763637795 0.00001
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu) rs750831528 0.00001
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu) rs764205112 0.00001
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=) rs758516967 0.00001
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg) rs1278211656 0.00001
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657 0.00001
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val) rs931699788 0.00001
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser) rs1237053788 0.00001
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp) rs1159750019 0.00001
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354 0.00001
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg) rs750417575 0.00001
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe) rs555355654 0.00001
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg) rs2096203231 0.00001
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr) rs1392726878 0.00001
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile) rs765961446 0.00001
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His) rs890021376 0.00001
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys) rs753602210 0.00001
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val) rs755539687 0.00001
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln) rs533927341 0.00001
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser) rs373690809 0.00001
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=) rs370314344 0.00001
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn) rs760935405 0.00001
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr) rs750676780 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn) rs764169067 0.00001
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu) rs771550432 0.00001
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln) rs544309811 0.00001
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn) rs768676733 0.00001
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln) rs752229373 0.00001
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu) rs764500952 0.00001
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln) rs201750136 0.00001
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329 0.00001
NM_182961.4(SYNE1):c.15917+9G>A rs779265988 0.00001
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser) rs779313924 0.00001
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln) rs1233067296 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp) rs575137601 0.00001
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val) rs1229397934 0.00001
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala) rs148295255 0.00001
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly) rs747824937 0.00001
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly) rs1021830711 0.00001
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp) rs769306377 0.00001
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala) rs1313738847 0.00001
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg) rs928178334 0.00001
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=) rs142010074 0.00001
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln) rs746879340 0.00001
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys) rs749088509 0.00001
NM_182961.4(SYNE1):c.169A>G (p.Met57Val) rs1031712545 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys) rs1227780117 0.00001
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr) rs759609921 0.00001
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser) rs774018511 0.00001
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242 0.00001
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532 0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr) rs775815795 0.00001
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val) rs987594036 0.00001
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln) rs2095193468 0.00001
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile) rs766625615 0.00001
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile) rs1336941426 0.00001
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr) rs1043563187 0.00001
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys) rs753835774 0.00001
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr) rs375798794 0.00001
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del) rs2094716921 0.00001
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772 0.00001
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln) rs745822192 0.00001
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726 0.00001
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser) rs557248018 0.00001
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val) rs752183118 0.00001
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met) rs372219741 0.00001
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys) rs1279573379 0.00001
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile) rs899182753 0.00001
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val) rs549373990 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.18573+3G>A rs886044046 0.00001
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp) rs776024100 0.00001
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641 0.00001
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro) rs538161615 0.00001
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys) rs1270352436 0.00001
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro) rs371489057 0.00001
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273 0.00001
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His) rs752272082 0.00001
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu) rs141196768 0.00001
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala) rs965275563 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg) rs909589026 0.00001
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser) rs758337239 0.00001
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly) rs1398807335 0.00001
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln) rs943903359 0.00001
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn) rs376421422 0.00001
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe) rs1453005046 0.00001
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser) rs756816038 0.00001
NM_182961.4(SYNE1):c.19470+5G>A rs775233950 0.00001
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala) rs2088379630 0.00001
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln) rs1377270650 0.00001
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys) rs369420729 0.00001
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His) rs375565416 0.00001
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487 0.00001
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn) rs755573339 0.00001
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val) rs368088542 0.00001
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr) rs764885262 0.00001
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg) rs751964300 0.00001
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val) rs1483994641 0.00001
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg) rs769256850 0.00001
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val) rs532550838 0.00001
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe) rs1309947836 0.00001
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys) rs539439844 0.00001
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674 0.00001
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe) rs766238098 0.00001
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala) rs886043522 0.00001
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774 0.00001
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met) rs144417950 0.00001
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu) rs373012438 0.00001
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys) rs746823107 0.00001
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val) rs752179906 0.00001
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn) rs372288820 0.00001
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val) rs191912037 0.00001
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val) rs758767378 0.00001
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys) rs746477050 0.00001
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met) rs767422903 0.00001
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His) rs772675312 0.00001
NM_182961.4(SYNE1):c.21039+6C>G rs368575705 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro) rs772233604 0.00001
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile) rs757676303 0.00001
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly) rs755014049 0.00001
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val) rs749058571 0.00001
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg) rs769405487 0.00001
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala) rs1792916692 0.00001
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr) rs1257118792 0.00001
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val) rs763768133 0.00001
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser) rs1348902701 0.00001
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu) rs749718460 0.00001
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=) rs775672135 0.00001
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153 0.00001
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile) rs747185019 0.00001
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe) rs753138419 0.00001
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr) rs1029115177 0.00001
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile) rs938003229 0.00001
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys) rs751761981 0.00001
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His) rs748260996 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val) rs751450784 0.00001
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His) rs752421314 0.00001
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys) rs762050668 0.00001
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val) rs369260919 0.00001
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys) rs1383141765 0.00001
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg) rs1166773141 0.00001
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu) rs1215390720 0.00001
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met) rs1257304725 0.00001
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met) rs748623485 0.00001
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg) rs886042946 0.00001
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu) rs540603947 0.00001
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu) rs1434935687 0.00001
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu) rs776253447 0.00001
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala) rs1402188826 0.00001
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln) rs780964504 0.00001
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=) rs758511859 0.00001
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe) rs764300736 0.00001
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp) rs763100950 0.00001
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro) rs1350005154 0.00001
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile) rs750186803 0.00001
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln) rs1204207131 0.00001
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln) rs200066979 0.00001
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961 0.00001
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala) rs374073415 0.00001
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys) rs1289070478 0.00001
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe) rs778500015 0.00001
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His) rs779568455 0.00001
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile) rs376844951 0.00001
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr) rs1391158473 0.00001
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln) rs1259951823 0.00001
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile) rs781532655 0.00001
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val) rs1249661326 0.00001
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe) rs1172072268 0.00001
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met) rs1399057012 0.00001
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys) rs1178007789 0.00001
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr) rs780744047 0.00001
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys) rs753219547 0.00001
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met) rs558928607 0.00001
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp) rs762991088 0.00001
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr) rs146463833 0.00001
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys) rs777371816 0.00001
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=) rs572195368 0.00001
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862 0.00001
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu) rs1361081346 0.00001
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His) rs776221173 0.00001
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641 0.00001
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys) rs1380424994 0.00001
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His) rs1338634888 0.00001
NM_182961.4(SYNE1):c.24312+8C>G rs780026181 0.00001
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln) rs777435137 0.00001
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr) rs774707282 0.00001
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe) rs1389166406 0.00001
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His) rs775617906 0.00001
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr) rs2060075935 0.00001
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln) rs201193141 0.00001
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg) rs886042886 0.00001
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys) rs1480247904 0.00001
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His) rs777322468 0.00001
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg) rs1239507497 0.00001
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln) rs200684943 0.00001
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His) rs778080338 0.00001
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102 0.00001
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=) rs144685965 0.00001
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser) rs780271781 0.00001
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly) rs1306354261 0.00001
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly) rs200377339 0.00001
NM_182961.4(SYNE1):c.25246+3G>A rs765849365 0.00001
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu) rs1253032018 0.00001
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser) rs756645782 0.00001
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp) rs375616724 0.00001
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln) rs370008122 0.00001
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His) rs759577495 0.00001
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala) rs746452797 0.00001
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp) rs764235096 0.00001
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg) rs529921934 0.00001
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile) rs1354935363 0.00001
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299 0.00001
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr) rs760698113 0.00001
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val) rs1258380992 0.00001
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554 0.00001
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr) rs370566643 0.00001
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=) rs751355623 0.00001
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr) rs1229969547 0.00001
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys) rs149045775 0.00001
NM_182961.4(SYNE1):c.26001+4A>G rs746958913 0.00001
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn) rs753533241 0.00001
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln) rs147829200 0.00001
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser) rs773195787 0.00001
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln) rs758942329 0.00001
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894 0.00001
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) rs751627369 0.00001
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His) rs1276774540 0.00001
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser) rs780574537 0.00001
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963 0.00001
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln) rs550697327 0.00001
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe) rs747405346 0.00001
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met) rs756888254 0.00001
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu) rs898451919 0.00001
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val) rs2099133562 0.00001
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln) rs1196383268 0.00001
NM_182961.4(SYNE1):c.2728-5T>A rs775558169 0.00001
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val) rs376880609 0.00001
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln) rs537794828 0.00001
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr) rs570242828 0.00001
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn) rs1374710512 0.00001
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355 0.00001
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser) rs763255748 0.00001
NM_182961.4(SYNE1):c.310-469C>T rs762351812 0.00001
NM_182961.4(SYNE1):c.310-485A>G rs764771842 0.00001
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697 0.00001
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn) rs144982424 0.00001
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys) rs771821092 0.00001
NM_182961.4(SYNE1):c.3186+5G>A rs778578295 0.00001
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His) rs886061213 0.00001
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser) rs749547744 0.00001
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile) rs142734877 0.00001
NM_182961.4(SYNE1):c.3504+5G>A rs1398879746 0.00001
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val) rs750101869 0.00001
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe) rs1203451912 0.00001
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr) rs1226690928 0.00001
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln) rs370014940 0.00001
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met) rs767097288 0.00001
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly) rs908679898 0.00001
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp) rs745616824 0.00001
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr) rs1029244968 0.00001
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu) rs750865008 0.00001
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln) rs985588823 0.00001
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys) rs770015858 0.00001
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp) rs758427132 0.00001
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn) rs202235488 0.00001
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu) rs1302474521 0.00001
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu) rs767883709 0.00001
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys) rs1218913029 0.00001
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly) rs1289977041 0.00001
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala) rs577388500 0.00001
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His) rs1378400021 0.00001
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr) rs750659947 0.00001
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg) rs573641821 0.00001
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly) rs983431074 0.00001
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys) rs755101379 0.00001
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr) rs775729666 0.00001
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val) rs753598584 0.00001
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met) rs199797561 0.00001
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys) rs373448917 0.00001
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly) rs776344465 0.00001
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr) rs1554680800 0.00001
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro) rs1364310674 0.00001
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001 0.00001
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg) rs200766001 0.00001
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala) rs761352115 0.00001
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr) rs1481121106 0.00001
NM_182961.4(SYNE1):c.5421+5A>T rs755875029 0.00001
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe) rs746812274 0.00001
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp) rs1179461369 0.00001
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr) rs369176646 0.00001
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg) rs1483236627 0.00001
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe) rs761812821 0.00001
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala) rs773890189 0.00001
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser) rs750263410 0.00001
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val) rs746384499 0.00001
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile) rs1467783489 0.00001
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys) rs767563434 0.00001
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro) rs2098103147 0.00001
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys) rs746057788 0.00001
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser) rs754275815 0.00001
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg) rs1014104831 0.00001
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala) rs376472102 0.00001
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg) rs1183559257 0.00001
NM_182961.4(SYNE1):c.6723+5A>C rs755302313 0.00001
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr) rs371609288 0.00001
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr) rs758161551 0.00001
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly) rs777595583 0.00001
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu) rs752405422 0.00001
NM_182961.4(SYNE1):c.7030-4G>C rs112853992 0.00001
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys) rs780033455 0.00001
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His) rs554035671 0.00001
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser) rs140948068 0.00001
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu) rs969369417 0.00001
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val) rs750178248 0.00001
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679 0.00001
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser) rs748362030 0.00001
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly) rs1271079717 0.00001
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys) rs764800126 0.00001
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys) rs886061209 0.00001
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys) rs768574390 0.00001
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile) rs144069436 0.00001
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln) rs769840610 0.00001
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys) rs1186798259 0.00001
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys) rs754203591 0.00001
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn) rs775185806 0.00001
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp) rs770461993 0.00001
NM_182961.4(SYNE1):c.8004+5A>G rs746589347 0.00001
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn) rs1241632741 0.00001
NM_182961.4(SYNE1):c.8462T>C (p.Phe2821Ser) rs202207690 0.00001
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile) rs794727764 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp) rs757720748 0.00001
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val) rs746752458 0.00001
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met) rs371229610 0.00001
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His) rs148998248 0.00001
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn) rs143313866 0.00001
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val) rs1202916520 0.00001
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val) rs753512972 0.00001
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn) rs766072795 0.00001
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys) rs760074927 0.00001
NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr) rs527822279 0.00001
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser) rs200939886 0.00001
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala) rs2097290792 0.00001
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser) rs766846025 0.00001
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp) rs761071366 0.00001
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser) rs2097283921 0.00001
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198 0.00001
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr) rs1591443794 0.00001
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr) rs373615823 0.00001
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn) rs1484236534 0.00001
NM_182961.4(SYNE1):c.9507+6T>C rs372138410 0.00001
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys) rs761121679 0.00001
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr) rs1398398021 0.00001
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met) rs587777426 0.00001
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg) rs1295360409 0.00001
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val) rs774469372 0.00001
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe) rs770774159 0.00001
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu) rs559031643 0.00001
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn) rs1188481121 0.00001
NM_194248.3(OTOF):c.*867C>T rs578132477 0.00001
NM_194248.3(OTOF):c.*936G>A rs556660734 0.00001
NM_194248.3(OTOF):c.1045+4A>G rs754376415 0.00001
NM_194248.3(OTOF):c.1100C>T (p.Ser367Leu) rs200985159 0.00001
NM_194248.3(OTOF):c.1350C>G (p.Asp450Glu) rs779693261 0.00001
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682 0.00001
NM_194248.3(OTOF):c.21C>A (p.Leu7=) rs545316807 0.00001
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) rs773354262 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2807T>A (p.Val936Asp) rs758010380 0.00001
NM_194248.3(OTOF):c.2871G>A (p.Lys957=) rs1488516129 0.00001
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.3230A>G (p.Gln1077Arg) rs749183807 0.00001
NM_194248.3(OTOF):c.3599C>T (p.Pro1200Leu) rs762316974 0.00001
NM_194248.3(OTOF):c.3662A>G (p.His1221Arg) rs1665081236 0.00001
NM_194248.3(OTOF):c.3749G>A (p.Arg1250His) rs755411269 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) rs777285104 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.5193-9T>C rs886055875 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5650A>G (p.Lys1884Glu) rs886055873 0.00001
NM_194248.3(OTOF):c.576A>G (p.Gln192=) rs886055880 0.00001
NM_194248.3(OTOF):c.591G>A (p.Pro197=) rs779916426 0.00001
NM_194248.3(OTOF):c.611A>C (p.Asp204Ala) rs756388245 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 0.00001
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403 0.00001
NM_194292.3(SASS6):c.134T>A (p.Val45Asp) rs746525578 0.00001
NM_198428.3(BBS9):c.*12T>C rs770978235 0.00001
NM_198428.3(BBS9):c.*585C>T rs1273092896 0.00001
NM_198428.3(BBS9):c.*801G>A rs1216449046 0.00001
NM_198428.3(BBS9):c.-163G>C rs886062281 0.00001
NM_198428.3(BBS9):c.-271G>A rs886062280 0.00001
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1048G>C (p.Asp350His) rs1450271969 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 0.00001
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) rs1030973947 0.00001
NM_198428.3(BBS9):c.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1258A>G (p.Asn420Asp) rs1436119227 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1361A>G (p.Lys454Arg) rs370631861 0.00001
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn) rs775868685 0.00001
NM_198428.3(BBS9):c.1511C>T (p.Ala504Val) rs750504833 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser) rs149730302 0.00001
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys) rs756750359 0.00001
NM_198428.3(BBS9):c.1574G>A (p.Cys525Tyr) rs746119144 0.00001
NM_198428.3(BBS9):c.1642A>G (p.Ile548Val) rs1050416352 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1699G>A (p.Ala567Thr) rs200439561 0.00001
NM_198428.3(BBS9):c.1819G>A (p.Glu607Lys) rs771575427 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.1856G>A (p.Arg619His) rs750412402 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676 0.00001
NM_198428.3(BBS9):c.1918_1920dup (p.Ile640dup) rs761174142 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.2072C>T (p.Pro691Leu) rs759571062 0.00001
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu) rs752548438 0.00001
NM_198428.3(BBS9):c.2099A>G (p.Asp700Gly) rs763790518 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2373G>T (p.Gln791His) rs758968522 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2491G>A (p.Ala831Thr) rs1851012393 0.00001
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) rs545725547 0.00001
NM_198428.3(BBS9):c.2566G>T (p.Val856Leu) rs764122627 0.00001
NM_198428.3(BBS9):c.2621C>T (p.Thr874Ile) rs750363787 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.2636T>A (p.Val879Asp) rs976242629 0.00001
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu) rs749974697 0.00001
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala) rs1238854328 0.00001
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283 0.00001
NM_198428.3(BBS9):c.395A>G (p.Gln132Arg) rs542324847 0.00001
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly) rs759120113 0.00001
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser) rs752108930 0.00001
NM_198428.3(BBS9):c.469A>G (p.Met157Val) rs148763093 0.00001
NM_198428.3(BBS9):c.49A>G (p.Lys17Glu) rs1329996453 0.00001
NM_198428.3(BBS9):c.632C>T (p.Ala211Val) rs1225416201 0.00001
NM_198428.3(BBS9):c.665C>T (p.Thr222Ile) rs1317691865 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.839T>C (p.Met280Thr) rs143119193 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.929A>T (p.Asn310Ile) rs1341125124 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198428.3(BBS9):c.979C>T (p.Pro327Ser) rs760272596 0.00001
NM_198428.3(BBS9):c.989C>T (p.Pro330Leu) rs370056161 0.00001
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) rs759424882 0.00001
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr) rs567836651 0.00001
NM_198525.3(KIF7):c.2896-18T>A rs528968559 0.00001
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln) rs746107537 0.00001
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) rs189960711 0.00001
NM_198525.3(KIF7):c.976G>A (p.Val326Ile) rs1964066861 0.00001
NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn) rs755628714 0.00001
NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln) rs201060425 0.00001
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr) rs1346488074 0.00001
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) rs1567453873 0.00001
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) rs765500601 0.00001
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) rs1022182632 0.00001
NM_201253.3(CRB1):c.1172-3C>G rs937310739 0.00001
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) rs745464770 0.00001
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu) rs772386716 0.00001
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) rs1450290360 0.00001
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) rs767723282 0.00001
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile) rs557930078 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.285G>C (p.Leu95=) rs753898127 0.00001
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) rs905306614 0.00001
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) rs769059111 0.00001
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) rs374786358 0.00001
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) rs763011436 0.00001
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg) rs574742644 0.00001
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) rs759022743 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met) rs754862028 0.00001
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) rs774187022 0.00001
NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro) rs1015110520 0.00001
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) rs1461964160 0.00001
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) rs1412048468 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_201378.4(PLEC):c.71-11602G>A rs374484619 0.00001
NM_201384.3(PLEC):c.10037C>G (p.Ser3346Cys) rs368616323 0.00001
NM_201384.3(PLEC):c.10099G>C (p.Glu3367Gln) rs782044067 0.00001
NM_201384.3(PLEC):c.10117G>A (p.Glu3373Lys) rs782355184 0.00001
NM_201384.3(PLEC):c.10147A>C (p.Thr3383Pro) rs782748295 0.00001
NM_201384.3(PLEC):c.10151C>T (p.Thr3384Met) rs782088523 0.00001
NM_201384.3(PLEC):c.10234G>A (p.Ala3412Thr) rs1259520719 0.00001
NM_201384.3(PLEC):c.10237G>A (p.Val3413Met) rs1821826541 0.00001
NM_201384.3(PLEC):c.10244C>T (p.Ala3415Val) rs201343829 0.00001
NM_201384.3(PLEC):c.10286C>T (p.Ala3429Val) rs782556459 0.00001
NM_201384.3(PLEC):c.10288G>A (p.Glu3430Lys) rs368781937 0.00001
NM_201384.3(PLEC):c.10300A>T (p.Thr3434Ser) rs782257743 0.00001
NM_201384.3(PLEC):c.10301C>A (p.Thr3434Asn) rs1315645477 0.00001
NM_201384.3(PLEC):c.1034C>T (p.Ser345Phe) rs782069556 0.00001
NM_201384.3(PLEC):c.10357A>G (p.Lys3453Glu) rs1358043804 0.00001
NM_201384.3(PLEC):c.10360G>A (p.Gly3454Ser) rs781866713 0.00001
NM_201384.3(PLEC):c.10387C>T (p.Arg3463Cys) rs782515444 0.00001
NM_201384.3(PLEC):c.10412C>T (p.Thr3471Met) rs886044786 0.00001
NM_201384.3(PLEC):c.10426G>A (p.Asp3476Asn) rs782148173 0.00001
NM_201384.3(PLEC):c.10444C>T (p.Arg3482Cys) rs370181826 0.00001
NM_201384.3(PLEC):c.10469A>C (p.Gln3490Pro) rs371479882 0.00001
NM_201384.3(PLEC):c.10501G>A (p.Val3501Ile) rs782252148 0.00001
NM_201384.3(PLEC):c.10514C>G (p.Pro3505Arg) rs1199435903 0.00001
NM_201384.3(PLEC):c.10561C>G (p.Leu3521Val) rs782316417 0.00001
NM_201384.3(PLEC):c.10585C>T (p.Arg3529Trp) rs782802840 0.00001
NM_201384.3(PLEC):c.10630A>G (p.Lys3544Glu) rs371181414 0.00001
NM_201384.3(PLEC):c.10661C>T (p.Thr3554Ile) rs782017839 0.00001
NM_201384.3(PLEC):c.10670T>G (p.Val3557Gly) rs782192702 0.00001
NM_201384.3(PLEC):c.1067A>G (p.Lys356Arg) rs376259577 0.00001
NM_201384.3(PLEC):c.10720A>G (p.Ile3574Val) rs1554677163 0.00001
NM_201384.3(PLEC):c.10801C>T (p.Arg3601Trp) rs782412400 0.00001
NM_201384.3(PLEC):c.1086C>G (p.His362Gln) rs1221901115 0.00001
NM_201384.3(PLEC):c.10870G>A (p.Glu3624Lys) rs554393133 0.00001
NM_201384.3(PLEC):c.1088C>T (p.Pro363Leu) rs782699072 0.00001
NM_201384.3(PLEC):c.10898G>A (p.Arg3633His) rs782135707 0.00001
NM_201384.3(PLEC):c.10927G>A (p.Val3643Met) rs372569386 0.00001
NM_201384.3(PLEC):c.10928T>G (p.Val3643Gly) rs1057008805 0.00001
NM_201384.3(PLEC):c.1092G>A (p.Leu364=) rs781871234 0.00001
NM_201384.3(PLEC):c.10937G>A (p.Arg3646His) rs562181035 0.00001
NM_201384.3(PLEC):c.10963G>T (p.Ala3655Ser) rs1315338542 0.00001
NM_201384.3(PLEC):c.11002G>A (p.Glu3668Lys) rs782675540 0.00001
NM_201384.3(PLEC):c.11005G>A (p.Gly3669Ser) rs1382452627 0.00001
NM_201384.3(PLEC):c.11143C>G (p.Leu3715Val) rs370177411 0.00001
NM_201384.3(PLEC):c.11221C>T (p.Arg3741Trp) rs782510033 0.00001
NM_201384.3(PLEC):c.11308G>A (p.Gly3770Ser) rs1444612790 0.00001
NM_201384.3(PLEC):c.11380G>A (p.Glu3794Lys) rs782456612 0.00001
NM_201384.3(PLEC):c.11413G>A (p.Ala3805Thr) rs1443028323 0.00001
NM_201384.3(PLEC):c.11414C>T (p.Ala3805Val) rs1025558613 0.00001
NM_201384.3(PLEC):c.11417C>G (p.Thr3806Ser) rs1554675150 0.00001
NM_201384.3(PLEC):c.11435C>G (p.Pro3812Arg) rs1554675092 0.00001
NM_201384.3(PLEC):c.11459T>C (p.Leu3820Pro) rs1269992508 0.00001
NM_201384.3(PLEC):c.1154G>A (p.Arg385His) rs781837293 0.00001
NM_201384.3(PLEC):c.11561G>A (p.Arg3854His) rs782426200 0.00001
NM_201384.3(PLEC):c.11584A>G (p.Arg3862Gly) rs1240592478 0.00001
NM_201384.3(PLEC):c.11585G>C (p.Arg3862Thr) rs2857817 0.00001
NM_201384.3(PLEC):c.11593C>T (p.Arg3865Cys) rs782679722 0.00001
NM_201384.3(PLEC):c.11596C>T (p.Arg3866Cys) rs782732974 0.00001
NM_201384.3(PLEC):c.1169+3G>T rs782070756 0.00001
NM_201384.3(PLEC):c.11695C>T (p.Arg3899Cys) rs782307535 0.00001
NM_201384.3(PLEC):c.11696G>A (p.Arg3899His) rs782307503 0.00001
NM_201384.3(PLEC):c.11717C>T (p.Ala3906Val) rs1821159891 0.00001
NM_201384.3(PLEC):c.11734C>T (p.Arg3912Trp) rs782136681 0.00001
NM_201384.3(PLEC):c.11824G>A (p.Ala3942Thr) rs370908106 0.00001
NM_201384.3(PLEC):c.11837G>A (p.Arg3946Gln) rs782131159 0.00001
NM_201384.3(PLEC):c.11876G>A (p.Arg3959His) rs782457644 0.00001
NM_201384.3(PLEC):c.11906C>T (p.Ala3969Val) rs782096389 0.00001
NM_201384.3(PLEC):c.11920G>A (p.Gly3974Ser) rs782086000 0.00001
NM_201384.3(PLEC):c.11957C>T (p.Thr3986Met) rs369056956 0.00001
NM_201384.3(PLEC):c.11995G>A (p.Glu3999Lys) rs371575907 0.00001
NM_201384.3(PLEC):c.12006C>G (p.Asp4002Glu) rs368603624 0.00001
NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys) rs541833704 0.00001
NM_201384.3(PLEC):c.12026G>A (p.Arg4009His) rs564907731 0.00001
NM_201384.3(PLEC):c.12028G>A (p.Ala4010Thr) rs782509992 0.00001
NM_201384.3(PLEC):c.12049C>T (p.Pro4017Ser) rs782728318 0.00001
NM_201384.3(PLEC):c.12078C>A (p.Phe4026Leu) rs374049856 0.00001
NM_201384.3(PLEC):c.12146C>T (p.Thr4049Met) rs1277411906 0.00001
NM_201384.3(PLEC):c.12179G>A (p.Arg4060Gln) rs781784602 0.00001
NM_201384.3(PLEC):c.12211C>T (p.Leu4071Phe) rs1453717440 0.00001
NM_201384.3(PLEC):c.12222G>A (p.Glu4074=) rs782668739 0.00001
NM_201384.3(PLEC):c.12232G>A (p.Glu4078Lys) rs782767430 0.00001
NM_201384.3(PLEC):c.12244G>A (p.Asp4082Asn) rs201221940 0.00001
NM_201384.3(PLEC):c.12256G>A (p.Asp4086Asn) rs371832085 0.00001
NM_201384.3(PLEC):c.12269T>G (p.Phe4090Cys) rs1227023626 0.00001
NM_201384.3(PLEC):c.12284C>T (p.Thr4095Met) rs1464501088 0.00001
NM_201384.3(PLEC):c.12328A>G (p.Thr4110Ala) rs782757230 0.00001
NM_201384.3(PLEC):c.12383G>A (p.Arg4128Gln) rs533757341 0.00001
NM_201384.3(PLEC):c.12416G>A (p.Arg4139His) rs1554671990 0.00001
NM_201384.3(PLEC):c.12430G>A (p.Val4144Met) rs541897170 0.00001
NM_201384.3(PLEC):c.12466G>A (p.Glu4156Lys) rs781855093 0.00001
NM_201384.3(PLEC):c.12476G>A (p.Arg4159His) rs200506691 0.00001
NM_201384.3(PLEC):c.12481G>A (p.Gly4161Ser) rs781961605 0.00001
NM_201384.3(PLEC):c.12517G>A (p.Glu4173Lys) rs868975952 0.00001
NM_201384.3(PLEC):c.12529G>A (p.Glu4177Lys) rs1554671692 0.00001
NM_201384.3(PLEC):c.12593G>A (p.Arg4198His) rs782499153 0.00001
NM_201384.3(PLEC):c.12610G>A (p.Asp4204Asn) rs781906543 0.00001
NM_201384.3(PLEC):c.12622G>A (p.Ala4208Thr) rs1212706018 0.00001
NM_201384.3(PLEC):c.12643G>A (p.Asp4215Asn) rs782345860 0.00001
NM_201384.3(PLEC):c.12646C>T (p.Arg4216Cys) rs782235680 0.00001
NM_201384.3(PLEC):c.12673G>A (p.Gly4225Ser) rs782770333 0.00001
NM_201384.3(PLEC):c.12746C>T (p.Ser4249Leu) rs782038750 0.00001
NM_201384.3(PLEC):c.12748G>A (p.Val4250Met) rs1425881685 0.00001
NM_201384.3(PLEC):c.12761C>T (p.Ser4254Phe) rs913371011 0.00001
NM_201384.3(PLEC):c.12785T>C (p.Val4262Ala) rs1482281132 0.00001
NM_201384.3(PLEC):c.12838G>A (p.Val4280Met) rs1408053127 0.00001
NM_201384.3(PLEC):c.12857C>T (p.Thr4286Met) rs782594364 0.00001
NM_201384.3(PLEC):c.12860A>G (p.Glu4287Gly) rs1554670527 0.00001
NM_201384.3(PLEC):c.12898C>T (p.Arg4300Trp) rs782022985 0.00001
NM_201384.3(PLEC):c.12920C>T (p.Thr4307Met) rs782337927 0.00001
NM_201384.3(PLEC):c.12986G>A (p.Arg4329His) rs372622946 0.00001
NM_201384.3(PLEC):c.13003G>A (p.Ala4335Thr) rs1416802915 0.00001
NM_201384.3(PLEC):c.1304C>T (p.Ala435Val) rs782509734 0.00001
NM_201384.3(PLEC):c.13106C>T (p.Ser4369Leu) rs1554669959 0.00001
NM_201384.3(PLEC):c.13157G>A (p.Arg4386His) rs782726792 0.00001
NM_201384.3(PLEC):c.13216G>A (p.Val4406Met) rs782059675 0.00001
NM_201384.3(PLEC):c.1324T>G (p.Leu442Val) rs781873552 0.00001
NM_201384.3(PLEC):c.13259G>A (p.Arg4420His) rs782580027 0.00001
NM_201384.3(PLEC):c.13315A>G (p.Lys4439Glu) rs782448188 0.00001
NM_201384.3(PLEC):c.13385G>A (p.Arg4462Gln) rs782440209 0.00001
NM_201384.3(PLEC):c.13438G>A (p.Val4480Ile) rs896023315 0.00001
NM_201384.3(PLEC):c.13492C>T (p.Arg4498Trp) rs1186944515 0.00001
NM_201384.3(PLEC):c.13511G>C (p.Gly4504Ala) rs1554668587 0.00001
NM_201384.3(PLEC):c.13547C>T (p.Thr4516Ile) rs1320878270 0.00001
NM_201384.3(PLEC):c.13573T>C (p.Ser4525Pro) rs1554668402 0.00001
NM_201384.3(PLEC):c.13578C>G (p.Gly4526=) rs1554668373 0.00001
NM_201384.3(PLEC):c.13619G>T (p.Gly4540Val) rs1554668242 0.00001
NM_201384.3(PLEC):c.1361A>G (p.Asn454Ser) rs781981346 0.00001
NM_201384.3(PLEC):c.13624C>T (p.Pro4542Ser) rs556098263 0.00001
NM_201384.3(PLEC):c.13633G>C (p.Ala4545Pro) rs540887940 0.00001
NM_201384.3(PLEC):c.13640C>G (p.Ala4547Gly) rs1554668138 0.00001
NM_201384.3(PLEC):c.1388G>A (p.Arg463Gln) rs782739981 0.00001
NM_201384.3(PLEC):c.1453C>T (p.Arg485Cys) rs1437842181 0.00001
NM_201384.3(PLEC):c.1459G>A (p.Glu487Lys) rs371046649 0.00001
NM_201384.3(PLEC):c.1490C>T (p.Ala497Val) rs782639948 0.00001
NM_201384.3(PLEC):c.1541G>A (p.Arg514His) rs781887816 0.00001
NM_201384.3(PLEC):c.1589C>T (p.Ala530Val) rs548123598 0.00001
NM_201384.3(PLEC):c.1612C>T (p.Arg538Cys) rs782678779 0.00001
NM_201384.3(PLEC):c.1624G>A (p.Ala542Thr) rs369715210 0.00001
NM_201384.3(PLEC):c.1667G>A (p.Gly556Asp) rs1166945836 0.00001
NM_201384.3(PLEC):c.1679G>T (p.Gly560Val) rs921706306 0.00001
NM_201384.3(PLEC):c.1693A>G (p.Ile565Val) rs1401118530 0.00001
NM_201384.3(PLEC):c.1696G>A (p.Glu566Lys) rs782631888 0.00001
NM_201384.3(PLEC):c.1720C>T (p.Arg574Trp) rs782724039 0.00001
NM_201384.3(PLEC):c.1721G>A (p.Arg574Gln) rs782426860 0.00001
NM_201384.3(PLEC):c.1726C>T (p.Arg576Trp) rs201837064 0.00001
NM_201384.3(PLEC):c.1733A>G (p.Asp578Gly) rs886044773 0.00001
NM_201384.3(PLEC):c.1753G>A (p.Ala585Thr) rs368520468 0.00001
NM_201384.3(PLEC):c.1757C>G (p.Thr586Ser) rs374313865 0.00001
NM_201384.3(PLEC):c.1759C>T (p.Arg587Trp) rs554022624 0.00001
NM_201384.3(PLEC):c.1772G>A (p.Arg591His) rs1554717827 0.00001
NM_201384.3(PLEC):c.1786C>T (p.Arg596Trp) rs556691235 0.00001
NM_201384.3(PLEC):c.1787G>A (p.Arg596Gln) rs1346840219 0.00001
NM_201384.3(PLEC):c.1820C>T (p.Ser607Phe) rs782818198 0.00001
NM_201384.3(PLEC):c.1831C>T (p.Arg611Cys) rs782101660 0.00001
NM_201384.3(PLEC):c.1890G>A (p.Met630Ile) rs782067250 0.00001
NM_201384.3(PLEC):c.1952T>C (p.Met651Thr) rs1260484783 0.00001
NM_201384.3(PLEC):c.1979C>T (p.Ala660Val) rs782079821 0.00001
NM_201384.3(PLEC):c.1988G>A (p.Arg663Gln) rs1554716583 0.00001
NM_201384.3(PLEC):c.2051G>A (p.Arg684Gln) rs1290657834 0.00001
NM_201384.3(PLEC):c.2105C>T (p.Thr702Met) rs782793434 0.00001
NM_201384.3(PLEC):c.2127G>C (p.Gln709His) rs1303759485 0.00001
NM_201384.3(PLEC):c.212G>A (p.Arg71His) rs1478796034 0.00001
NM_201384.3(PLEC):c.2225A>C (p.Gln742Pro) rs898634177 0.00001
NM_201384.3(PLEC):c.2258G>A (p.Arg753His) rs782343456 0.00001
NM_201384.3(PLEC):c.2269G>A (p.Val757Ile) rs782595372 0.00001
NM_201384.3(PLEC):c.2308G>A (p.Glu770Lys) rs369133057 0.00001
NM_201384.3(PLEC):c.2411G>A (p.Arg804Gln) rs782119259 0.00001
NM_201384.3(PLEC):c.2614C>G (p.Leu872Val) rs375552577 0.00001
NM_201384.3(PLEC):c.2621C>G (p.Ala874Gly) rs988267661 0.00001
NM_201384.3(PLEC):c.2698C>T (p.Arg900Cys) rs782542783 0.00001
NM_201384.3(PLEC):c.2701C>T (p.Arg901Cys) rs782577033 0.00001
NM_201384.3(PLEC):c.2702G>A (p.Arg901His) rs782494047 0.00001
NM_201384.3(PLEC):c.2738C>T (p.Thr913Met) rs782128136 0.00001
NM_201384.3(PLEC):c.2739+4C>T rs782418880 0.00001
NM_201384.3(PLEC):c.2742C>A (p.Phe914Leu) rs1826574724 0.00001
NM_201384.3(PLEC):c.2813G>A (p.Arg938Gln) rs553483629 0.00001
NM_201384.3(PLEC):c.2834G>A (p.Gly945Asp) rs782237945 0.00001
NM_201384.3(PLEC):c.2843C>G (p.Pro948Arg) rs537345370 0.00001
NM_201384.3(PLEC):c.2875G>A (p.Gly959Ser) rs201071539 0.00001
NM_201384.3(PLEC):c.2950C>T (p.Arg984Cys) rs201454700 0.00001
NM_201384.3(PLEC):c.2990A>T (p.Glu997Val) rs1333530152 0.00001
NM_201384.3(PLEC):c.3002C>T (p.Thr1001Met) rs782176940 0.00001
NM_201384.3(PLEC):c.3005G>A (p.Arg1002His) rs369325695 0.00001
NM_201384.3(PLEC):c.3034G>A (p.Asp1012Asn) rs1354214746 0.00001
NM_201384.3(PLEC):c.3064C>T (p.Arg1022Cys) rs782182287 0.00001
NM_201384.3(PLEC):c.3081+6G>A rs781891922 0.00001
NM_201384.3(PLEC):c.3086C>T (p.Ala1029Val) rs1554710595 0.00001
NM_201384.3(PLEC):c.3092C>T (p.Ala1031Val) rs896295045 0.00001
NM_201384.3(PLEC):c.3109G>C (p.Gly1037Arg) rs782169577 0.00001
NM_201384.3(PLEC):c.3136G>A (p.Glu1046Lys) rs781823745 0.00001
NM_201384.3(PLEC):c.3194C>T (p.Ser1065Leu) rs782446699 0.00001
NM_201384.3(PLEC):c.3232C>T (p.Arg1078Cys) rs372402587 0.00001
NM_201384.3(PLEC):c.3233G>T (p.Arg1078Leu) rs1330807133 0.00001
NM_201384.3(PLEC):c.3325G>A (p.Glu1109Lys) rs782316766 0.00001
NM_201384.3(PLEC):c.332G>A (p.Arg111Gln) rs782755539 0.00001
NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu) rs782567448 0.00001
NM_201384.3(PLEC):c.3392C>T (p.Ser1131Phe) rs1257318291 0.00001
NM_201384.3(PLEC):c.3403C>G (p.Leu1135Val) rs782216798 0.00001
NM_201384.3(PLEC):c.3436T>A (p.Phe1146Ile) rs1554708450 0.00001
NM_201384.3(PLEC):c.343G>C (p.Val115Leu) rs1175276086 0.00001
NM_201384.3(PLEC):c.3448C>T (p.Arg1150Trp) rs782267740 0.00001
NM_201384.3(PLEC):c.3461G>A (p.Arg1154Gln) rs781804291 0.00001
NM_201384.3(PLEC):c.3485G>A (p.Arg1162Gln) rs368280705 0.00001
NM_201384.3(PLEC):c.3491A>G (p.Gln1164Arg) rs782101451 0.00001
NM_201384.3(PLEC):c.3496C>T (p.Arg1166Trp) rs374092876 0.00001
NM_201384.3(PLEC):c.3497G>A (p.Arg1166Gln) rs782578320 0.00001
NM_201384.3(PLEC):c.3502G>A (p.Gly1168Arg) rs782308522 0.00001
NM_201384.3(PLEC):c.3509G>A (p.Arg1170Gln) rs370346095 0.00001
NM_201384.3(PLEC):c.3526C>T (p.Arg1176Cys) rs567457709 0.00001
NM_201384.3(PLEC):c.3532C>T (p.Arg1178Trp) rs782291539 0.00001
NM_201384.3(PLEC):c.3544G>A (p.Ala1182Thr) rs1398429578 0.00001
NM_201384.3(PLEC):c.3554T>C (p.Leu1185Pro) rs781889681 0.00001
NM_201384.3(PLEC):c.3559C>T (p.Arg1187Cys) rs782050586 0.00001
NM_201384.3(PLEC):c.3623A>C (p.Gln1208Pro) rs1441764984 0.00001
NM_201384.3(PLEC):c.3637C>T (p.Arg1213Cys) rs1369858558 0.00001
NM_201384.3(PLEC):c.3638G>A (p.Arg1213His) rs782011338 0.00001
NM_201384.3(PLEC):c.3642G>C (p.Glu1214Asp) rs782561993 0.00001
NM_201384.3(PLEC):c.3661G>T (p.Ala1221Ser) rs727504099 0.00001
NM_201384.3(PLEC):c.3686G>A (p.Arg1229Gln) rs369021425 0.00001
NM_201384.3(PLEC):c.3697A>G (p.Ile1233Val) rs782317491 0.00001
NM_201384.3(PLEC):c.3718G>A (p.Asp1240Asn) rs371511422 0.00001
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln) rs376541112 0.00001
NM_201384.3(PLEC):c.3779G>A (p.Arg1260His) rs782464700 0.00001
NM_201384.3(PLEC):c.3793G>A (p.Val1265Ile) rs1468025304 0.00001
NM_201384.3(PLEC):c.3841G>T (p.Asp1281Tyr) rs781967540 0.00001
NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) rs782169513 0.00001
NM_201384.3(PLEC):c.3851T>C (p.Leu1284Pro) rs886044774 0.00001
NM_201384.3(PLEC):c.3872C>T (p.Ala1291Val) rs1564077346 0.00001
NM_201384.3(PLEC):c.3883C>T (p.Pro1295Ser) rs587780419 0.00001
NM_201384.3(PLEC):c.3943G>A (p.Glu1315Lys) rs782504857 0.00001
NM_201384.3(PLEC):c.3945+4G>A rs1443632528 0.00001
NM_201384.3(PLEC):c.3962C>T (p.Thr1321Met) rs782146862 0.00001
NM_201384.3(PLEC):c.3968A>G (p.Tyr1323Cys) rs557438560 0.00001
NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg) rs782377096 0.00001
NM_201384.3(PLEC):c.3973G>A (p.Glu1325Lys) rs782178037 0.00001
NM_201384.3(PLEC):c.4015G>A (p.Glu1339Lys) rs781823105 0.00001
NM_201384.3(PLEC):c.4018A>C (p.Thr1340Pro) rs782746248 0.00001
NM_201384.3(PLEC):c.4028G>A (p.Arg1343His) rs371776565 0.00001
NM_201384.3(PLEC):c.4033G>A (p.Glu1345Lys) rs375230228 0.00001
NM_201384.3(PLEC):c.4064G>A (p.Arg1355Gln) rs782227274 0.00001
NM_201384.3(PLEC):c.4078G>A (p.Glu1360Lys) rs782455948 0.00001
NM_201384.3(PLEC):c.4081C>T (p.Arg1361Trp) rs1226356797 0.00001
NM_201384.3(PLEC):c.4090G>A (p.Glu1364Lys) rs374203605 0.00001
NM_201384.3(PLEC):c.4102G>A (p.Ala1368Thr) rs1554704248 0.00001
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp) rs782378494 0.00001
NM_201384.3(PLEC):c.4118G>A (p.Arg1373Gln) rs782128071 0.00001
NM_201384.3(PLEC):c.4133C>T (p.Ala1378Val) rs782590460 0.00001
NM_201384.3(PLEC):c.4138G>A (p.Ala1380Thr) rs960723686 0.00001
NM_201384.3(PLEC):c.4208G>A (p.Arg1403Gln) rs1554703818 0.00001
NM_201384.3(PLEC):c.4210C>T (p.Arg1404Trp) rs782370378 0.00001
NM_201384.3(PLEC):c.4213G>A (p.Glu1405Lys) rs782015257 0.00001
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val) rs548430154 0.00001
NM_201384.3(PLEC):c.4277G>A (p.Arg1426Gln) rs1226948756 0.00001
NM_201384.3(PLEC):c.4340G>A (p.Arg1447Gln) rs375600751 0.00001
NM_201384.3(PLEC):c.4346G>A (p.Arg1449His) rs561225406 0.00001
NM_201384.3(PLEC):c.4364G>A (p.Arg1455His) rs542878693 0.00001
NM_201384.3(PLEC):c.4372C>T (p.Arg1458Cys) rs782169790 0.00001
NM_201384.3(PLEC):c.4395G>C (p.Glu1465Asp) rs782121511 0.00001
NM_201384.3(PLEC):c.4402C>T (p.Arg1468Cys) rs1210256536 0.00001
NM_201384.3(PLEC):c.4436G>A (p.Arg1479His) rs782154733 0.00001
NM_201384.3(PLEC):c.4445C>T (p.Ala1482Val) rs368728018 0.00001
NM_201384.3(PLEC):c.4484A>C (p.Glu1495Ala) rs781819832 0.00001
NM_201384.3(PLEC):c.4492C>T (p.Arg1498Cys) rs782021381 0.00001
NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) rs782344020 0.00001
NM_201384.3(PLEC):c.4525C>T (p.Arg1509Cys) rs868970949 0.00001
NM_201384.3(PLEC):c.4558C>T (p.Arg1520Cys) rs782141520 0.00001
NM_201384.3(PLEC):c.4583C>T (p.Ala1528Val) rs532681952 0.00001
NM_201384.3(PLEC):c.4588G>A (p.Glu1530Lys) rs530048576 0.00001
NM_201384.3(PLEC):c.4593G>T (p.Lys1531Asn) rs1413927119 0.00001
NM_201384.3(PLEC):c.4619A>C (p.Glu1540Ala) rs1206278709 0.00001
NM_201384.3(PLEC):c.4624C>T (p.Arg1542Trp) rs781964198 0.00001
NM_201384.3(PLEC):c.4633G>T (p.Ala1545Ser) rs924280766 0.00001
NM_201384.3(PLEC):c.4639G>A (p.Glu1547Lys) rs781960032 0.00001
NM_201384.3(PLEC):c.4640A>C (p.Glu1547Ala) rs1554701799 0.00001
NM_201384.3(PLEC):c.4657C>T (p.Arg1553Trp) rs781820448 0.00001
NM_201384.3(PLEC):c.4664C>T (p.Ala1555Val) rs781870824 0.00001
NM_201384.3(PLEC):c.4736A>C (p.Gln1579Pro) rs1554701162 0.00001
NM_201384.3(PLEC):c.4747G>A (p.Ala1583Thr) rs981516995 0.00001
NM_201384.3(PLEC):c.4759G>A (p.Glu1587Lys) rs868928596 0.00001
NM_201384.3(PLEC):c.4771C>G (p.Gln1591Glu) rs782016001 0.00001
NM_201384.3(PLEC):c.4829C>T (p.Ala1610Val) rs1554700719 0.00001
NM_201384.3(PLEC):c.4834C>T (p.Arg1612Trp) rs782551115 0.00001
NM_201384.3(PLEC):c.4853C>T (p.Ala1618Val) rs1183457619 0.00001
NM_201384.3(PLEC):c.4864C>T (p.Arg1622Trp) rs781964004 0.00001
NM_201384.3(PLEC):c.4871G>A (p.Arg1624His) rs782531607 0.00001
NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly) rs781881685 0.00001
NM_201384.3(PLEC):c.4922C>T (p.Ala1641Val) rs1554700268 0.00001
NM_201384.3(PLEC):c.4928G>A (p.Arg1643Gln) rs782312782 0.00001
NM_201384.3(PLEC):c.4954G>A (p.Ala1652Thr) rs2855763 0.00001
NM_201384.3(PLEC):c.4996A>G (p.Lys1666Glu) rs782200875 0.00001
NM_201384.3(PLEC):c.4999G>A (p.Glu1667Lys) rs782503404 0.00001
NM_201384.3(PLEC):c.5006C>T (p.Ala1669Val) rs782557094 0.00001
NM_201384.3(PLEC):c.5012G>A (p.Arg1671His) rs782081177 0.00001
NM_201384.3(PLEC):c.5018C>T (p.Ala1673Val) rs782140442 0.00001
NM_201384.3(PLEC):c.5020C>T (p.Arg1674Trp) rs782306391 0.00001
NM_201384.3(PLEC):c.5032A>G (p.Lys1678Glu) rs782573460 0.00001
NM_201384.3(PLEC):c.5033A>G (p.Lys1678Arg) rs782459426 0.00001
NM_201384.3(PLEC):c.5035G>A (p.Ala1679Thr) rs1034420276 0.00001
NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp) rs781802082 0.00001
NM_201384.3(PLEC):c.5059C>T (p.Arg1687Trp) rs1177932321 0.00001
NM_201384.3(PLEC):c.5093G>A (p.Arg1698Gln) rs782361396 0.00001
NM_201384.3(PLEC):c.509G>A (p.Arg170Gln) rs782657140 0.00001
NM_201384.3(PLEC):c.5113G>A (p.Ala1705Thr) rs782464626 0.00001
NM_201384.3(PLEC):c.5114C>T (p.Ala1705Val) rs781835502 0.00001
NM_201384.3(PLEC):c.5116C>G (p.Gln1706Glu) rs782526557 0.00001
NM_201384.3(PLEC):c.5123G>A (p.Arg1708His) rs781895453 0.00001
NM_201384.3(PLEC):c.5131G>A (p.Ala1711Thr) rs781937167 0.00001
NM_201384.3(PLEC):c.5186G>A (p.Arg1729Gln) rs781904392 0.00001
NM_201384.3(PLEC):c.5188C>A (p.Gln1730Lys) rs1824304044 0.00001
NM_201384.3(PLEC):c.5201A>G (p.Glu1734Gly) rs1554698803 0.00001
NM_201384.3(PLEC):c.5212C>T (p.Arg1738Trp) rs782696997 0.00001
NM_201384.3(PLEC):c.5273C>T (p.Ala1758Val) rs1283833230 0.00001
NM_201384.3(PLEC):c.5335C>T (p.Arg1779Cys) rs927107716 0.00001
NM_201384.3(PLEC):c.5336G>A (p.Arg1779His) rs782762319 0.00001
NM_201384.3(PLEC):c.5339C>T (p.Ser1780Phe) rs1554698233 0.00001
NM_201384.3(PLEC):c.5347G>A (p.Glu1783Lys) rs782042846 0.00001
NM_201384.3(PLEC):c.5360A>G (p.Gln1787Arg) rs1554698122 0.00001
NM_201384.3(PLEC):c.5365C>G (p.Leu1789Val) rs1554698095 0.00001
NM_201384.3(PLEC):c.5371G>A (p.Ala1791Thr) rs563085221 0.00001
NM_201384.3(PLEC):c.5374G>A (p.Glu1792Lys) rs782362564 0.00001
NM_201384.3(PLEC):c.5383C>T (p.Arg1795Trp) rs782002901 0.00001
NM_201384.3(PLEC):c.5392G>A (p.Glu1798Lys) rs782227367 0.00001
NM_201384.3(PLEC):c.5401G>A (p.Glu1801Lys) rs782629559 0.00001
NM_201384.3(PLEC):c.5410G>A (p.Ala1804Thr) rs984387491 0.00001
NM_201384.3(PLEC):c.5419C>T (p.Arg1807Cys) rs781812050 0.00001
NM_201384.3(PLEC):c.5429C>T (p.Ala1810Val) rs781987856 0.00001
NM_201384.3(PLEC):c.5432A>G (p.Glu1811Gly) rs1554697725 0.00001
NM_201384.3(PLEC):c.5488G>A (p.Glu1830Lys) rs1554697350 0.00001
NM_201384.3(PLEC):c.5494G>C (p.Glu1832Gln) rs1401586689 0.00001
NM_201384.3(PLEC):c.5527G>A (p.Gly1843Ser) rs781804005 0.00001
NM_201384.3(PLEC):c.5539C>T (p.Arg1847Trp) rs1421391265 0.00001
NM_201384.3(PLEC):c.5572G>A (p.Glu1858Lys) rs1379680879 0.00001
NM_201384.3(PLEC):c.5600G>A (p.Arg1867Gln) rs368361284 0.00001
NM_201384.3(PLEC):c.5609C>T (p.Ala1870Val) rs782373965 0.00001
NM_201384.3(PLEC):c.5630G>A (p.Arg1877Gln) rs932283077 0.00001
NM_201384.3(PLEC):c.5639T>C (p.Leu1880Pro) rs1367343945 0.00001
NM_201384.3(PLEC):c.5713G>A (p.Glu1905Lys) rs1300397162 0.00001
NM_201384.3(PLEC):c.5735T>C (p.Leu1912Pro) rs1226737255 0.00001
NM_201384.3(PLEC):c.5741A>G (p.Glu1914Gly) rs782280540 0.00001
NM_201384.3(PLEC):c.5783T>G (p.Leu1928Arg) rs782175736 0.00001
NM_201384.3(PLEC):c.581A>G (p.Asn194Ser) rs1358786912 0.00001
NM_201384.3(PLEC):c.5896G>A (p.Glu1966Lys) rs782167428 0.00001
NM_201384.3(PLEC):c.5900T>C (p.Leu1967Pro) rs1564031595 0.00001
NM_201384.3(PLEC):c.5909C>T (p.Ala1970Val) rs564590863 0.00001
NM_201384.3(PLEC):c.5918G>A (p.Arg1973Gln) rs782680523 0.00001
NM_201384.3(PLEC):c.5927C>T (p.Ala1976Val) rs781911978 0.00001
NM_201384.3(PLEC):c.5947C>T (p.Arg1983Cys) rs781814416 0.00001
NM_201384.3(PLEC):c.596G>A (p.Arg199Gln) rs782356049 0.00001
NM_201384.3(PLEC):c.5993A>C (p.Glu1998Ala) rs782286124 0.00001
NM_201384.3(PLEC):c.6011G>A (p.Arg2004Gln) rs781921057 0.00001
NM_201384.3(PLEC):c.6028G>C (p.Glu2010Gln) rs782602923 0.00001
NM_201384.3(PLEC):c.6049A>G (p.Lys2017Glu) rs1254555160 0.00001
NM_201384.3(PLEC):c.604C>T (p.Pro202Ser) rs898198225 0.00001
NM_201384.3(PLEC):c.6060G>C (p.Glu2020Asp) rs782007606 0.00001
NM_201384.3(PLEC):c.6064C>T (p.Arg2022Trp) rs781936068 0.00001
NM_201384.3(PLEC):c.6065G>A (p.Arg2022Gln) rs782332277 0.00001
NM_201384.3(PLEC):c.6068G>A (p.Arg2023His) rs781983525 0.00001
NM_201384.3(PLEC):c.6098C>T (p.Ala2033Val) rs782712639 0.00001
NM_201384.3(PLEC):c.6136C>T (p.Arg2046Trp) rs782634097 0.00001
NM_201384.3(PLEC):c.6149A>G (p.Glu2050Gly) rs782612083 0.00001
NM_201384.3(PLEC):c.6221G>A (p.Ser2074Asn) rs1554693843 0.00001
NM_201384.3(PLEC):c.6242G>A (p.Gly2081Asp) rs886044809 0.00001
NM_201384.3(PLEC):c.6244G>A (p.Glu2082Lys) rs782506688 0.00001
NM_201384.3(PLEC):c.6250G>A (p.Glu2084Lys) rs1554693665 0.00001
NM_201384.3(PLEC):c.6254C>T (p.Ala2085Val) rs782165311 0.00001
NM_201384.3(PLEC):c.6259C>T (p.Arg2087Trp) rs782738721 0.00001
NM_201384.3(PLEC):c.6265G>A (p.Ala2089Thr) rs1554693583 0.00001
NM_201384.3(PLEC):c.6272A>G (p.Glu2091Gly) rs1204180231 0.00001
NM_201384.3(PLEC):c.6277G>A (p.Ala2093Thr) rs782302884 0.00001
NM_201384.3(PLEC):c.6289C>T (p.Arg2097Trp) rs1362358927 0.00001
NM_201384.3(PLEC):c.6304C>T (p.Arg2102Cys) rs550190726 0.00001
NM_201384.3(PLEC):c.6317A>G (p.Gln2106Arg) rs781986464 0.00001
NM_201384.3(PLEC):c.6320C>T (p.Ser2107Phe) rs782287448 0.00001
NM_201384.3(PLEC):c.6325C>T (p.Arg2109Trp) rs782507277 0.00001
NM_201384.3(PLEC):c.6397G>T (p.Ala2133Ser) rs916312856 0.00001
NM_201384.3(PLEC):c.6401C>T (p.Ala2134Val) rs1554692840 0.00001
NM_201384.3(PLEC):c.6415C>T (p.Arg2139Cys) rs782717631 0.00001
NM_201384.3(PLEC):c.6437C>T (p.Ala2146Val) rs563755990 0.00001
NM_201384.3(PLEC):c.6445C>T (p.Arg2149Trp) rs751469179 0.00001
NM_201384.3(PLEC):c.6518T>A (p.Phe2173Tyr) rs782105374 0.00001
NM_201384.3(PLEC):c.6530C>T (p.Thr2177Met) rs1312954051 0.00001
NM_201384.3(PLEC):c.6595G>A (p.Asp2199Asn) rs782456298 0.00001
NM_201384.3(PLEC):c.6637A>C (p.Lys2213Gln) rs1823576456 0.00001
NM_201384.3(PLEC):c.6646G>A (p.Ala2216Thr) rs1170367970 0.00001
NM_201384.3(PLEC):c.6661C>T (p.Arg2221Cys) rs377275586 0.00001
NM_201384.3(PLEC):c.6737G>A (p.Arg2246His) rs1444747601 0.00001
NM_201384.3(PLEC):c.6742G>A (p.Glu2248Lys) rs1554691569 0.00001
NM_201384.3(PLEC):c.6754C>T (p.Arg2252Cys) rs782530517 0.00001
NM_201384.3(PLEC):c.6781A>G (p.Asn2261Asp) rs782141468 0.00001
NM_201384.3(PLEC):c.6793T>G (p.Phe2265Val) rs1823498287 0.00001
NM_201384.3(PLEC):c.6825G>T (p.Gln2275His) rs1441016262 0.00001
NM_201384.3(PLEC):c.6837G>T (p.Glu2279Asp) rs782723243 0.00001
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln) rs782316711 0.00001
NM_201384.3(PLEC):c.6937A>G (p.Lys2313Glu) rs1554691104 0.00001
NM_201384.3(PLEC):c.6947T>C (p.Met2316Thr) rs782572408 0.00001
NM_201384.3(PLEC):c.698C>T (p.Thr233Met) rs782174639 0.00001
NM_201384.3(PLEC):c.7030C>T (p.Arg2344Trp) rs782563909 0.00001
NM_201384.3(PLEC):c.7031G>A (p.Arg2344Gln) rs782566489 0.00001
NM_201384.3(PLEC):c.7033C>T (p.Arg2345Trp) rs782781897 0.00001
NM_201384.3(PLEC):c.7132A>G (p.Met2378Val) rs79121794 0.00001
NM_201384.3(PLEC):c.7162C>T (p.Arg2388Cys) rs561405725 0.00001
NM_201384.3(PLEC):c.718+4C>T rs946680945 0.00001
NM_201384.3(PLEC):c.7181G>A (p.Arg2394Gln) rs782412906 0.00001
NM_201384.3(PLEC):c.7195G>A (p.Ala2399Thr) rs782779334 0.00001
NM_201384.3(PLEC):c.7201G>C (p.Glu2401Gln) rs577001346 0.00001
NM_201384.3(PLEC):c.7203G>C (p.Glu2401Asp) rs1490394365 0.00001
NM_201384.3(PLEC):c.7214G>A (p.Arg2405His) rs370305441 0.00001
NM_201384.3(PLEC):c.7236G>T (p.Glu2412Asp) rs781890455 0.00001
NM_201384.3(PLEC):c.735G>C (p.Gln245His) rs782586855 0.00001
NM_201384.3(PLEC):c.7425+5C>T rs782656919 0.00001
NM_201384.3(PLEC):c.7433C>T (p.Thr2478Met) rs782610811 0.00001
NM_201384.3(PLEC):c.7469C>T (p.Ala2490Val) rs886044904 0.00001
NM_201384.3(PLEC):c.7520G>A (p.Arg2507His) rs782232833 0.00001
NM_201384.3(PLEC):c.7564G>A (p.Asp2522Asn) rs1554689102 0.00001
NM_201384.3(PLEC):c.7606C>T (p.Arg2536Trp) rs782809876 0.00001
NM_201384.3(PLEC):c.7607_7608insTGA (p.Arg2536_Gln2537insGlu) rs1178939932 0.00001
NM_201384.3(PLEC):c.7609C>G (p.Gln2537Glu) rs1376260084 0.00001
NM_201384.3(PLEC):c.7610A>G (p.Gln2537Arg) rs781861513 0.00001
NM_201384.3(PLEC):c.7627C>G (p.Gln2543Glu) rs1554688769 0.00001
NM_201384.3(PLEC):c.7640G>A (p.Arg2547Gln) rs1554688726 0.00001
NM_201384.3(PLEC):c.7664C>T (p.Ala2555Val) rs1193397559 0.00001
NM_201384.3(PLEC):c.770C>T (p.Ser257Leu) rs782139331 0.00001
NM_201384.3(PLEC):c.7855C>A (p.Gln2619Lys) rs1822925383 0.00001
NM_201384.3(PLEC):c.7879C>T (p.Pro2627Ser) rs782795199 0.00001
NM_201384.3(PLEC):c.7901A>T (p.Asp2634Val) rs782078849 0.00001
NM_201384.3(PLEC):c.7925C>A (p.Pro2642Gln) rs782183501 0.00001
NM_201384.3(PLEC):c.7949G>A (p.Arg2650Gln) rs1554687458 0.00001
NM_201384.3(PLEC):c.7984G>A (p.Gly2662Ser) rs782786410 0.00001
NM_201384.3(PLEC):c.8005C>G (p.Leu2669Val) rs376154528 0.00001
NM_201384.3(PLEC):c.802G>A (p.Val268Met) rs1254577041 0.00001
NM_201384.3(PLEC):c.8030C>T (p.Thr2677Ile) rs781973277 0.00001
NM_201384.3(PLEC):c.8054G>A (p.Arg2685Gln) rs200892962 0.00001
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His) rs782161008 0.00001
NM_201384.3(PLEC):c.807G>C (p.Gln269His) rs782272825 0.00001
NM_201384.3(PLEC):c.8195C>T (p.Ala2732Val) rs1554686537 0.00001
NM_201384.3(PLEC):c.8248G>A (p.Val2750Ile) rs982482662 0.00001
NM_201384.3(PLEC):c.8252A>G (p.Asn2751Ser) rs782453445 0.00001
NM_201384.3(PLEC):c.8254G>A (p.Glu2752Lys) rs782669949 0.00001
NM_201384.3(PLEC):c.8284G>A (p.Glu2762Lys) rs1554686136 0.00001
NM_201384.3(PLEC):c.8317G>A (p.Ala2773Thr) rs200683827 0.00001
NM_201384.3(PLEC):c.8344A>G (p.Thr2782Ala) rs782190805 0.00001
NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr) rs529109624 0.00001
NM_201384.3(PLEC):c.838C>T (p.Arg280Cys) rs372997489 0.00001
NM_201384.3(PLEC):c.8392G>A (p.Val2798Ile) rs782431119 0.00001
NM_201384.3(PLEC):c.8410C>T (p.Arg2804Cys) rs369084664 0.00001
NM_201384.3(PLEC):c.8449G>A (p.Asp2817Asn) rs1184467826 0.00001
NM_201384.3(PLEC):c.8461A>T (p.Ser2821Cys) rs1425678539 0.00001
NM_201384.3(PLEC):c.8491C>T (p.Arg2831Trp) rs781797258 0.00001
NM_201384.3(PLEC):c.8494C>T (p.Arg2832Cys) rs782165745 0.00001
NM_201384.3(PLEC):c.8522G>A (p.Arg2841His) rs568733727 0.00001
NM_201384.3(PLEC):c.853C>T (p.Arg285Trp) rs562600992 0.00001
NM_201384.3(PLEC):c.8548A>G (p.Thr2850Ala) rs782009185 0.00001
NM_201384.3(PLEC):c.8578G>A (p.Glu2860Lys) rs782398879 0.00001
NM_201384.3(PLEC):c.8587A>T (p.Thr2863Ser) rs1586836153 0.00001
NM_201384.3(PLEC):c.8609G>A (p.Arg2870His) rs781845486 0.00001
NM_201384.3(PLEC):c.8626G>A (p.Glu2876Lys) rs782517831 0.00001
NM_201384.3(PLEC):c.8633G>A (p.Gly2878Asp) rs781803407 0.00001
NM_201384.3(PLEC):c.8710G>A (p.Val2904Ile) rs781878564 0.00001
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val) rs935096656 0.00001
NM_201384.3(PLEC):c.8827C>T (p.Arg2943Trp) rs760837198 0.00001
NM_201384.3(PLEC):c.8836C>T (p.Arg2946Cys) rs546852080 0.00001
NM_201384.3(PLEC):c.8898G>T (p.Gln2966His) rs1460695341 0.00001
NM_201384.3(PLEC):c.8911C>T (p.Arg2971Trp) rs782126948 0.00001
NM_201384.3(PLEC):c.8930T>C (p.Leu2977Pro) rs965070864 0.00001
NM_201384.3(PLEC):c.8933G>A (p.Arg2978His) rs202227756 0.00001
NM_201384.3(PLEC):c.9007G>T (p.Gly3003Cys) rs781893712 0.00001
NM_201384.3(PLEC):c.9028G>A (p.Val3010Ile) rs782145186 0.00001
NM_201384.3(PLEC):c.9053G>A (p.Arg3018Gln) rs201831561 0.00001
NM_201384.3(PLEC):c.9061C>T (p.Arg3021Trp) rs782202018 0.00001
NM_201384.3(PLEC):c.9076A>G (p.Ile3026Val) rs782711547 0.00001
NM_201384.3(PLEC):c.9211G>A (p.Ala3071Thr) rs782624968 0.00001
NM_201384.3(PLEC):c.923C>T (p.Pro308Leu) rs781813266 0.00001
NM_201384.3(PLEC):c.9241G>A (p.Ala3081Thr) rs782803695 0.00001
NM_201384.3(PLEC):c.9242C>T (p.Ala3081Val) rs782121895 0.00001
NM_201384.3(PLEC):c.9251C>T (p.Ala3084Val) rs1554682228 0.00001
NM_201384.3(PLEC):c.9301G>A (p.Ala3101Thr) rs1554682090 0.00001
NM_201384.3(PLEC):c.9332G>A (p.Gly3111Glu) rs782797440 0.00001
NM_201384.3(PLEC):c.934G>A (p.Glu312Lys) rs577853547 0.00001
NM_201384.3(PLEC):c.9379C>T (p.Arg3127Trp) rs781795878 0.00001
NM_201384.3(PLEC):c.9380G>A (p.Arg3127Gln) rs552993354 0.00001
NM_201384.3(PLEC):c.9464A>G (p.Asp3155Gly) rs1822157624 0.00001
NM_201384.3(PLEC):c.9490G>A (p.Asp3164Asn) rs782682146 0.00001
NM_201384.3(PLEC):c.9517G>T (p.Ala3173Ser) rs781820470 0.00001
NM_201384.3(PLEC):c.9542A>T (p.Tyr3181Phe) rs781999137 0.00001
NM_201384.3(PLEC):c.9550C>T (p.Pro3184Ser) rs782221033 0.00001
NM_201384.3(PLEC):c.9560G>A (p.Gly3187Glu) rs782691999 0.00001
NM_201384.3(PLEC):c.9608A>T (p.Gln3203Leu) rs782658586 0.00001
NM_201384.3(PLEC):c.9653G>A (p.Arg3218Gln) rs1554680868 0.00001
NM_201384.3(PLEC):c.9669G>T (p.Glu3223Asp) rs782345196 0.00001
NM_201384.3(PLEC):c.9694G>A (p.Glu3232Lys) rs1030581337 0.00001
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu) rs782085661 0.00001
NM_201384.3(PLEC):c.9742G>A (p.Gly3248Ser) rs782522164 0.00001
NM_201384.3(PLEC):c.975G>T (p.Lys325Asn) rs1828492173 0.00001
NM_201384.3(PLEC):c.9797A>G (p.Gln3266Arg) rs782277164 0.00001
NM_201384.3(PLEC):c.9799C>T (p.Arg3267Trp) rs1554680235 0.00001
NM_201384.3(PLEC):c.9825C>T (p.Arg3275=) rs1020554521 0.00001
NM_201384.3(PLEC):c.9830G>A (p.Gly3277Asp) rs1441006146 0.00001
NM_201384.3(PLEC):c.9832A>G (p.Lys3278Glu) rs1554680143 0.00001
NM_201384.3(PLEC):c.9848A>C (p.Lys3283Thr) rs782284581 0.00001
NM_201384.3(PLEC):c.9919G>A (p.Gly3307Ser) rs782021653 0.00001
NM_201384.3(PLEC):c.991G>A (p.Ala331Thr) rs782338088 0.00001
NM_201384.3(PLEC):c.9946G>A (p.Glu3316Lys) rs373500873 0.00001
NM_201384.3(PLEC):c.9988C>G (p.Gln3330Glu) rs781994805 0.00001
NM_203486.3(DLL3):c.1101C>T (p.Leu367=) rs1434611786 0.00001
NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys) rs765517369 0.00001
NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg) rs985766992 0.00001
NM_203486.3(DLL3):c.1383A>C (p.Gly461=) rs886054433 0.00001
NM_203486.3(DLL3):c.409+6T>C rs995675341 0.00001
NM_203486.3(DLL3):c.478C>T (p.Arg160Trp) rs376907733 0.00001
NM_203486.3(DLL3):c.779C>A (p.Pro260His) rs748649010 0.00001
NM_203486.3(DLL3):c.933G>A (p.Val311=) rs760420806 0.00001
NM_206933.4(USH2A):c.-204-15G>A rs1162064882 0.00001
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu) rs755020832 0.00001
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu) rs1253788950 0.00001
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala) rs1661940699 0.00001
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr) rs1661940280 0.00001
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000 0.00001
NM_206933.4(USH2A):c.10182+5T>C rs1049628868 0.00001
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr) rs765920408 0.00001
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) rs149485593 0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941 0.00001
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly) rs141098637 0.00001
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala) rs567356824 0.00001
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) rs763125604 0.00001
NM_206933.4(USH2A):c.10854C>T (p.Gly3618=) rs1348201363 0.00001
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) rs765454203 0.00001
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys) rs758951363 0.00001
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) rs1373104511 0.00001
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn) rs753619373 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser) rs1289393326 0.00001
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu) rs1660884865 0.00001
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met) rs200521328 0.00001
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro) rs1571639421 0.00001
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=) rs1318290007 0.00001
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile) rs949082769 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582 0.00001
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr) rs541566194 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) rs772969352 0.00001
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu) rs867523397 0.00001
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile) rs751834009 0.00001
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) rs1174206381 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804 0.00001
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val) rs779875423 0.00001
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys) rs760177550 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387 0.00001
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) rs955434291 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala) rs145099178 0.00001
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn) rs1482821042 0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) rs140202956 0.00001
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly) rs936692193 0.00001
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) rs750512832 0.00001
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys) rs371401837 0.00001
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys) rs1423233510 0.00001
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) rs770620234 0.00001
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr) rs1418825414 0.00001
NM_206933.4(USH2A):c.1327A>C (p.Asn443His) rs775075026 0.00001
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) rs1453273341 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys) rs746221227 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val) rs1427845684 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu) rs1176215017 0.00001
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val) rs1369860869 0.00001
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys) rs906152033 0.00001
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu) rs2037663532 0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) rs1553250627 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro) rs751019233 0.00001
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607 0.00001
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu) rs201631375 0.00001
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser) rs55838724 0.00001
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys) rs769420341 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe) rs775307880 0.00001
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp) rs757728612 0.00001
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu) rs374096293 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe) rs556415914 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr) rs371182500 0.00001
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) rs542341955 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=) rs746439490 0.00001
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) rs759899869 0.00001
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr) rs768813865 0.00001
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg) rs146085433 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569 0.00001
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys) rs751811618 0.00001
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His) rs1222582781 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1761C>T (p.Asn587=) rs1571668714 0.00001
NM_206933.4(USH2A):c.1840+4A>G rs749288291 0.00001
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) rs759589036 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.1972-4C>T rs772294505 0.00001
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) rs753305011 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser) rs776095235 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro) rs769767476 0.00001
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile) rs932726287 0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg) rs376591221 0.00001
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val) rs1348183693 0.00001
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) rs779811357 0.00001
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) rs1391032458 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) rs751890894 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val) rs1318186049 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531 0.00001
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile) rs768461447 0.00001
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328 0.00001
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) rs780574336 0.00001
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=) rs560861284 0.00001
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) rs145459379 0.00001
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr) rs773133837 0.00001
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile) rs886045953 0.00001
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn) rs760233343 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.419C>A (p.Pro140His) rs759474177 0.00001
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) rs373130157 0.00001
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) rs776039417 0.00001
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe) rs755482100 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu) rs1388648004 0.00001
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) rs552928943 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017 0.00001
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr) rs1418438946 0.00001
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser) rs1487579070 0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val) rs1265349835 0.00001
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp) rs746010533 0.00001
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu) rs144213699 0.00001
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile) rs764080143 0.00001
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys) rs375519871 0.00001
NM_206933.4(USH2A):c.5298+5G>A rs1176314553 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu) rs372590222 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) rs940913250 0.00001
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly) rs760543320 0.00001
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu) rs763747123 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.5858-12A>G rs727503727 0.00001
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp) rs765590481 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) rs777886737 0.00001
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=) rs995870865 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser) rs748371326 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.651G>T (p.Gln217His) rs758696021 0.00001
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala) rs887441664 0.00001
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) rs1047559421 0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp) rs755612537 0.00001
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr) rs1177455978 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr) rs750302027 0.00001
NM_206933.4(USH2A):c.6805+195T>G rs1193295201 0.00001
NM_206933.4(USH2A):c.6806-3C>T rs775703386 0.00001
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met) rs1195257429 0.00001
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082 0.00001
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser) rs150634036 0.00001
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe) rs766809837 0.00001
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln) rs772014718 0.00001
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys) rs926377709 0.00001
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala) rs1667317930 0.00001
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro) rs751937450 0.00001
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu) rs751937450 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178 0.00001
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val) rs1475753019 0.00001
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe) rs1308006303 0.00001
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe) rs199825458 0.00001
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=) rs372817698 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe) rs775824145 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.7452-3C>T rs768233894 0.00001
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=) rs769678033 0.00001
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg) rs781685696 0.00001
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe) rs151037142 0.00001
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032 0.00001
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn) rs745480430 0.00001
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser) rs745559540 0.00001
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser) rs758382005 0.00001
NM_206933.4(USH2A):c.800T>C (p.Val267Ala) rs1047582820 0.00001
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) rs754677752 0.00001
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp) rs771526931 0.00001
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro) rs982853731 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) rs267598376 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn) rs750687826 0.00001
NM_206933.4(USH2A):c.82A>G (p.Ile28Val) rs753515909 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292 0.00001
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala) rs762358589 0.00001
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn) rs763232931 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met) rs901891136 0.00001
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser) rs768579751 0.00001
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) rs770418427 0.00001
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) rs766298464 0.00001
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys) rs1368683731 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser) rs1229658229 0.00001
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser) rs752996514 0.00001
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) rs776395355 0.00001
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln) rs774654676 0.00001
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000 0.00001
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys) rs904037823 0.00001
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu) rs1043013730 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg) rs1243226250 0.00001
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) rs1662221668 0.00001
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=) rs757439664 0.00001
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) rs766658893 0.00001
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) rs1378786390 0.00001
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) rs1558099268 0.00001
NM_207361.6(FREM2):c.*1061A>G rs886050195 0.00001
NM_207361.6(FREM2):c.*1568A>G rs1413225742 0.00001
NM_207361.6(FREM2):c.*2504T>C rs886050204 0.00001
NM_207361.6(FREM2):c.*291A>G rs886050194 0.00001
NM_207361.6(FREM2):c.*3553C>T rs1593464254 0.00001
NM_207361.6(FREM2):c.*5689C>T rs886050218 0.00001
NM_207361.6(FREM2):c.*8A>G rs886050193 0.00001
NM_207361.6(FREM2):c.1020A>G (p.Pro340=) rs150328266 0.00001
NM_207361.6(FREM2):c.1398A>G (p.Gln466=) rs772742256 0.00001
NM_207361.6(FREM2):c.2103G>A (p.Pro701=) rs117758105 0.00001
NM_207361.6(FREM2):c.2214A>G (p.Leu738=) rs533231784 0.00001
NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) rs750020230 0.00001
NM_207361.6(FREM2):c.2966C>T (p.Pro989Leu) rs756161507 0.00001
NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser) rs559654259 0.00001
NM_207361.6(FREM2):c.3139G>A (p.Gly1047Ser) rs1194030152 0.00001
NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) rs374360439 0.00001
NM_207361.6(FREM2):c.3517T>C (p.Phe1173Leu) rs886050188 0.00001
NM_207361.6(FREM2):c.3569A>C (p.Gln1190Pro) rs1234401702 0.00001
NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val) rs776875620 0.00001
NM_207361.6(FREM2):c.3737C>T (p.Thr1246Met) rs201865313 0.00001
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys) rs1437152125 0.00001
NM_207361.6(FREM2):c.4127A>G (p.Asp1376Gly) rs886050189 0.00001
NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln) rs1367167650 0.00001
NM_207361.6(FREM2):c.4255A>G (p.Ile1419Val) rs76419381 0.00001
NM_207361.6(FREM2):c.4889T>C (p.Val1630Ala) rs746466859 0.00001
NM_207361.6(FREM2):c.5185G>A (p.Asp1729Asn) rs772551338 0.00001
NM_207361.6(FREM2):c.5378G>A (p.Arg1793His) rs144476070 0.00001
NM_207361.6(FREM2):c.5410+11T>A rs747849923 0.00001
NM_207361.6(FREM2):c.5771C>T (p.Thr1924Ile) rs1174452517 0.00001
NM_207361.6(FREM2):c.6101G>T (p.Gly2034Val) rs778531580 0.00001
NM_207361.6(FREM2):c.6307C>T (p.Arg2103Cys) rs368450271 0.00001
NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) rs116453495 0.00001
NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn) rs772357847 0.00001
NM_207361.6(FREM2):c.7166C>T (p.Ala2389Val) rs199524550 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr) rs759338792 0.00001
NM_207361.6(FREM2):c.7519+12C>T rs1376730588 0.00001
NM_207361.6(FREM2):c.7936T>G (p.Ser2646Ala) rs532526246 0.00001
NM_207361.6(FREM2):c.8218C>T (p.Arg2740Cys) rs775185183 0.00001
NM_207361.6(FREM2):c.8225C>G (p.Ala2742Gly) rs1878277143 0.00001
NM_207361.6(FREM2):c.8342G>A (p.Arg2781His) rs756570666 0.00001
NM_207361.6(FREM2):c.8838C>T (p.Leu2946=) rs769142295 0.00001
NM_207361.6(FREM2):c.8842T>C (p.Tyr2948His) rs188920480 0.00001
NM_207361.6(FREM2):c.913G>A (p.Val305Ile) rs778649414 0.00001
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys) rs886042339 0.00001
NM_213599.3(ANO5):c.1318A>G (p.Asn440Asp) rs1205351330 0.00001
NM_213599.3(ANO5):c.1332+5A>G rs1287723428 0.00001
NM_213599.3(ANO5):c.1333-9A>G rs538243103 0.00001
NM_213599.3(ANO5):c.136A>G (p.Met46Val) rs537770163 0.00001
NM_213599.3(ANO5):c.1417G>A (p.Val473Ile) rs202040709 0.00001
NM_213599.3(ANO5):c.1578C>G (p.Ile526Met) rs373972893 0.00001
NM_213599.3(ANO5):c.1594T>C (p.Phe532Leu) rs768109557 0.00001
NM_213599.3(ANO5):c.1609T>C (p.Ser537Pro) rs773518330 0.00001
NM_213599.3(ANO5):c.1630+5del rs1064795273 0.00001
NM_213599.3(ANO5):c.1723G>A (p.Val575Ile) rs751404759 0.00001
NM_213599.3(ANO5):c.1746C>A (p.Phe582Leu) rs267602823 0.00001
NM_213599.3(ANO5):c.1800+5G>A rs794727179 0.00001
NM_213599.3(ANO5):c.1801T>C (p.Cys601Arg) rs201467684 0.00001
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg) rs754497228 0.00001
NM_213599.3(ANO5):c.1888G>A (p.Ala630Thr) rs751996270 0.00001
NM_213599.3(ANO5):c.1894T>G (p.Tyr632Asp) rs748238790 0.00001
NM_213599.3(ANO5):c.1922G>A (p.Arg641His) rs200265848 0.00001
NM_213599.3(ANO5):c.1934G>A (p.Arg645Gln) rs762414395 0.00001
NM_213599.3(ANO5):c.1957A>G (p.Ser653Gly) rs370610082 0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro) rs1472414854 0.00001
NM_213599.3(ANO5):c.2000T>A (p.Leu667His) rs1294495622 0.00001
NM_213599.3(ANO5):c.2096T>C (p.Ile699Thr) rs772625102 0.00001
NM_213599.3(ANO5):c.2125G>T (p.Ala709Ser) rs868221979 0.00001
NM_213599.3(ANO5):c.2317A>G (p.Met773Val) rs751028884 0.00001
NM_213599.3(ANO5):c.2320A>G (p.Thr774Ala) rs1305665401 0.00001
NM_213599.3(ANO5):c.2347G>A (p.Val783Ile) rs756648592 0.00001
NM_213599.3(ANO5):c.2348T>C (p.Val783Ala) rs778067880 0.00001
NM_213599.3(ANO5):c.2390A>G (p.Glu797Gly) rs772852694 0.00001
NM_213599.3(ANO5):c.2425T>G (p.Tyr809Asp) rs781142402 0.00001
NM_213599.3(ANO5):c.2458T>C (p.Phe820Leu) rs769775434 0.00001
NM_213599.3(ANO5):c.2513T>C (p.Val838Ala) rs1295612924 0.00001
NM_213599.3(ANO5):c.2516T>C (p.Met839Thr) rs150442899 0.00001
NM_213599.3(ANO5):c.2520+6C>T rs886042378 0.00001
NM_213599.3(ANO5):c.2521-1del rs752982710 0.00001
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236 0.00001
NM_213599.3(ANO5):c.263A>G (p.Asp88Gly) rs1206860357 0.00001
NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr) rs766228901 0.00001
NM_213599.3(ANO5):c.2717C>T (p.Ala906Val) rs764351643 0.00001
NM_213599.3(ANO5):c.293C>T (p.Ala98Val) rs201776515 0.00001
NM_213599.3(ANO5):c.331A>C (p.Thr111Pro) rs778956037 0.00001
NM_213599.3(ANO5):c.415G>T (p.Val139Leu) rs753871250 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.3(ANO5):c.436G>A (p.Val146Ile) rs1396031481 0.00001
NM_213599.3(ANO5):c.463G>A (p.Glu155Lys) rs377650308 0.00001
NM_213599.3(ANO5):c.475C>A (p.Pro159Thr) rs866752563 0.00001
NM_213599.3(ANO5):c.49G>A (p.Val17Ile) rs760992965 0.00001
NM_213599.3(ANO5):c.512G>A (p.Gly171Glu) rs977056246 0.00001
NM_213599.3(ANO5):c.517G>C (p.Val173Leu) rs775841716 0.00001
NM_213599.3(ANO5):c.545C>T (p.Pro182Leu) rs1319423412 0.00001
NM_213599.3(ANO5):c.632C>T (p.Ser211Leu) rs142939381 0.00001
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly) rs1490746741 0.00001
NM_213599.3(ANO5):c.648+5G>A rs752512585 0.00001
NM_213599.3(ANO5):c.650T>C (p.Val217Ala) rs749876289 0.00001
NM_213599.3(ANO5):c.656A>G (p.Tyr219Cys) rs753667370 0.00001
NM_213599.3(ANO5):c.664T>C (p.Ser222Pro) rs886042372 0.00001
NM_213599.3(ANO5):c.671G>C (p.Cys224Ser) rs749915913 0.00001
NM_213599.3(ANO5):c.6C>T (p.Gly2=) rs781074405 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
NM_213599.3(ANO5):c.763-3C>T rs756702010 0.00001
NM_213599.3(ANO5):c.763G>A (p.Gly255Ser) rs778212736 0.00001
NM_213599.3(ANO5):c.820C>T (p.His274Tyr) rs758954110 0.00001
NM_213599.3(ANO5):c.836G>A (p.Arg279Gln) rs201329725 0.00001
NM_213599.3(ANO5):c.87+3A>G rs1387282754 0.00001
NM_213599.3(ANO5):c.87G>A (p.Glu29=) rs1554919178 0.00001
NM_213599.3(ANO5):c.88C>G (p.Gln30Glu) rs747575706 0.00001
NM_213599.3(ANO5):c.904A>G (p.Ile302Val) rs750762553 0.00001
NM_213599.3(ANO5):c.989T>C (p.Leu330Ser) rs373814281 0.00001
NM_213599.3(ANO5):c.996G>A (p.Met332Ile) rs377619934 0.00001
NR_003051.3(RMRP):n.-15delT rs1554651530 0.00001
NR_003051.3(RMRP):n.-16G>A rs780414839 0.00001
NR_003051.3(RMRP):n.-20_-18delCTC rs1210447003 0.00001
NR_003051.3(RMRP):n.-20_-18dupCTC rs1554651542 0.00001
NR_003051.3(RMRP):n.-2_6dup8 rs1169511671 0.00001
NR_003051.3(RMRP):n.-7delA rs911564838 0.00001
NR_003051.4(RMRP):n.102A>G rs983337094 0.00001
NR_003051.4(RMRP):n.115_116insA rs769131655 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.127C>T rs1303461251 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.202C>T rs1245933575 0.00001
NR_003051.4(RMRP):n.20G>C rs910861550 0.00001
NR_003051.4(RMRP):n.232C>T rs762145032 0.00001
NR_003051.4(RMRP):n.235A>G rs1371155716 0.00001
NR_003051.4(RMRP):n.247G>A rs1345047056 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.67delA rs1317019943 0.00001
NR_003051.4(RMRP):n.71_72delGA rs1491544612 0.00001
NR_003051.4(RMRP):n.77C>T rs902757638 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
NC_000001.10:g.(?_10535024)_(10535079_?)dup
NC_000001.10:g.(?_10535024)_(10596374_?)dup
NC_000001.10:g.(?_10535024)_(11107264_?)dup
NC_000001.10:g.(?_10555311)_(10555398_?)dup
NC_000001.10:g.(?_10687309)_(10687440_?)del
NC_000001.10:g.(?_11847760)_(12066770_?)dup
NC_000001.10:g.(?_11994817)_(11994932_?)dup
NC_000001.10:g.(?_11994837)_(12034865_?)dup
NC_000001.10:g.(?_12008013)_(12010597_?)del
NC_000001.10:g.(?_12020703)_(12027148_?)dup
NC_000001.10:g.(?_149895434)_(156851434_?)dup
NC_000001.10:g.(?_150044213)_(150477474_?)dup
NC_000001.10:g.(?_150048291)_(150082762_?)dup
NC_000001.10:g.(?_154557262)_(154557840_?)dup
NC_000001.10:g.(?_154569261)_(154571081_?)dup
NC_000001.10:g.(?_160090676)_(160327063_?)dup
NC_000001.10:g.(?_1724664)_(2338414_?)dup
NC_000001.10:g.(?_17312716)_(17338233_?)dup
NC_000001.10:g.(?_17316166)_(17338233_?)dup
NC_000001.10:g.(?_179876938)_(179877828_?)del
NC_000001.10:g.(?_220088791)_(220406225_?)dup
NC_000001.10:g.(?_2337205)_(2343941_?)dup
NC_000001.10:g.(?_236631511)_(236645949_?)dup
NC_000001.10:g.(?_236959004)_(237060944_?)dup
NC_000001.10:g.(?_237060286)_(237060944_?)dup
NC_000001.10:g.(?_243303219)_(245027609_?)dup
NC_000001.10:g.(?_243349541)_(243419562_?)dup
NC_000001.10:g.(?_243437825)_(243437978_?)del
NC_000001.10:g.(?_243456373)_(243456541_?)del
NC_000001.10:g.(?_243493822)_(243494014_?)dup
NC_000001.10:g.(?_243504321)_(243507653_?)del
NC_000001.10:g.(?_243507497)_(243507653_?)del
NC_000001.10:g.(?_243578984)_(243589880_?)del
NC_000001.10:g.(?_243589709)_(243589880_?)del
NC_000001.10:g.(?_36940958)_(36941294_?)del
NC_000001.10:g.(?_45794914)_(45800183_?)dup
NC_000001.10:g.(?_45794968)_(45805936_?)dup
NC_000001.10:g.(?_45794972)_(45800189_?)dup
NC_000001.10:g.(?_45794978)_(45798641_?)dup
NC_000001.10:g.(?_45796178)_(45796257_?)dup
NC_000001.10:g.(?_45796848)_(45800189_?)dup
NC_000001.10:g.(?_45798425)_(45798641_?)dup
NC_000001.10:g.(?_45800053)_(45809328_?)dup
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NC_000001.10:g.(?_46654381)_(46659607_?)dup
NC_000001.10:g.(?_46654904)_(46660083_?)dup
NC_000001.10:g.(?_46654942)_(46655681_?)dup
NC_000001.10:g.(?_46654942)_(46656476_?)dup
NC_000001.10:g.(?_46654942)_(46661769_?)dup
NC_000001.10:g.(?_46654942)_(46663493_?)dup
NC_000001.10:g.(?_4715486)_(6012896_?)dup
NC_000001.10:g.(?_5923325)_(6022029_?)dup
NC_000001.10:g.(?_5923325)_(6046349_?)dup
NC_000001.10:g.(?_6046195)_(6101952_?)dup
NC_000001.10:g.(?_6527623)_(6537631_?)dup
NC_000001.10:g.(?_68895459)_(68915588_?)dup
NC_000001.10:g.(?_68914307)_(68919076_?)dup
NC_000001.11:g.(?_11934770)_(11934865_?)dup
NC_000001.11:g.(?_44822405)_(45340264_?)dup
NC_000001.11:g.(?_45329306)_(45343656_?)dup
NC_000001.11:g.(?_45340209)_(45343656_?)dup
NC_000001.11:g.(?_46188709)_(46194411_?)dup
NC_000001.11:g.(?_46189232)_(46197831_?)dup
NC_000001.11:g.(?_5978270)_(5978413_?)del
NC_000001.11:g.5927783_5927791dup
NC_000002.11:g.(?_109336043)_(109579739_?)dup
NC_000002.11:g.(?_109367964)_(109579739_?)dup
NC_000002.11:g.(?_110907739)_(110962545_?)dup
NC_000002.11:g.(?_110962457)_(110962545_?)dup
NC_000002.11:g.(?_127804599)_(127865903_?)del
NC_000002.11:g.(?_127806092)_(127834292_?)dup
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127806102)_(128432598_?)del
NC_000002.11:g.(?_127815029)_(127864539_?)dup
NC_000002.11:g.(?_127821127)_(127834302_?)dup
NC_000002.11:g.(?_127825719)_(127828412_?)dup
NC_000002.11:g.(?_127834182)_(127864519_?)dup
NC_000002.11:g.(?_127864416)_(127864519_?)dup
NC_000002.11:g.(?_128396836)_(128432618_?)dup
NC_000002.11:g.(?_128396846)_(128432608_?)dup
NC_000002.11:g.(?_163123710)_(163174817_?)del
NC_000002.11:g.(?_163123710)_(163174817_?)dup
NC_000002.11:g.(?_163128716)_(163134858_?)del
NC_000002.11:g.(?_163128856)_(163131721_?)del
NC_000002.11:g.(?_163163199)_(163163385_?)del
NC_000002.11:g.(?_166731265)_(166758440_?)dup
NC_000002.11:g.(?_166746969)_(166810215_?)dup
NC_000002.11:g.(?_169853125)_(170344644_?)dup
NC_000002.11:g.(?_170344296)_(170382206_?)dup
NC_000002.11:g.(?_179296824)_(179914668_?)dup
NC_000002.11:g.(?_179389716)_(179673150_?)dup
NC_000002.11:g.(?_179432520)_(179439230_?)del
NC_000002.11:g.(?_179460214)_(179487514_?)dup
NC_000002.11:g.(?_179480014)_(179501546_?)dup
NC_000002.11:g.(?_179480024)_(179501536_?)dup
NC_000002.11:g.(?_179485819)_(179486745_?)dup
NC_000002.11:g.(?_179485829)_(179486735_?)dup
NC_000002.11:g.(?_179489182)_(179501536_?)del
NC_000002.11:g.(?_179504005)_(179560850_?)del
NC_000002.11:g.(?_179505958)_(179515008_?)dup
NC_000002.11:g.(?_179505968)_(179514998_?)dup
NC_000002.11:g.(?_179511192)_(179518254_?)del
NC_000002.11:g.(?_179513965)_(179514068_?)del
NC_000002.11:g.(?_179517005)_(179517288_?)del
NC_000002.11:g.(?_179517165)_(179517483_?)dup
NC_000002.11:g.(?_179517165)_(179518254_?)dup
NC_000002.11:g.(?_179517945)_(179528263_?)del
NC_000002.11:g.(?_179528140)_(179559653_?)del
NC_000002.11:g.(?_179534935)_(179669369_?)del
NC_000002.11:g.(?_179542328)_(179542955_?)del
NC_000002.11:g.(?_179542832)_(179617927_?)del
NC_000002.11:g.(?_179549037)_(179550345_?)del
NC_000002.11:g.(?_179549960)_(179550345_?)del
NC_000002.11:g.(?_179550235)_(179550335_?)del
NC_000002.11:g.(?_179552838)_(179669369_?)del
NC_000002.11:g.(?_179555009)_(179560143_?)del
NC_000002.11:g.(?_179557204)_(179600821_?)dup
NC_000002.11:g.(?_179557214)_(179600811_?)dup
NC_000002.11:g.(?_179563550)_(179565950_?)del
NC_000002.11:g.(?_179565827)_(179567410_?)del
NC_000002.11:g.(?_179581802)_(179589285_?)dup
NC_000002.11:g.(?_179599275)_(179603834_?)del
NC_000002.11:g.(?_179648902)_(179655378_?)del
NC_000002.11:g.(?_179659854)_(179661632_?)del
NC_000002.11:g.(?_179669259)_(179669369_?)del
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000002.11:g.(?_218999525)_(220435954_?)dup
NC_000002.11:g.(?_220144556)_(220150719_?)dup
NC_000002.11:g.(?_220150706)_(220290732_?)dup
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NC_000002.11:g.(?_61244895)_(61275905_?)dup
NC_000002.11:g.(?_61258534)_(61275905_?)del
NC_000002.11:g.(?_61258534)_(62063264_?)dup
NC_000002.11:g.(?_61272841)_(61275905_?)del
NC_000002.11:g.(?_61272841)_(61275905_?)dup
NC_000002.11:g.(?_62991401)_(64335444_?)dup
NC_000002.11:g.(?_63349141)_(63380709_?)del
NC_000002.11:g.(?_63380029)_(63401987_?)del
NC_000002.11:g.(?_63486422)_(63609249_?)del
NC_000002.11:g.(?_63540363)_(63667025_?)del
NC_000002.11:g.(?_63660859)_(63667025_?)dup
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NC_000002.11:g.(?_73612997)_(73747163_?)dup
NC_000002.11:g.(?_73676196)_(73677479_?)del
NC_000002.11:g.(?_73761931)_(73762096_?)del
NC_000002.11:g.(?_73777374)_(73777584_?)del
NC_000002.11:g.(?_73784327)_(73786289_?)del
NC_000002.11:g.(?_73799369)_(73836739_?)dup
NC_000002.11:g.(?_73830348)_(73836739_?)del
NC_000002.11:g.(?_73835582)_(73836739_?)del
NC_000002.11:g.(?_73835582)_(73836739_?)dup
NC_000002.11:g.(?_86067247)_(86116048_?)dup
NC_000002.11:g.(?_86067267)_(86332899_?)dup
NC_000002.11:g.(?_86115927)_(86116028_?)dup
NC_000002.11:g.179534118_179534119insAlu
NC_000002.12:g.(?_110091603)_(110161697_?)dup
NC_000002.12:g.(?_110123791)_(110161697_?)dup
NC_000002.12:g.(?_110123791)_(110164730_?)dup
NC_000002.12:g.(?_110123791)_(110201494_?)dup
NC_000002.12:g.(?_110168442)_(110204968_?)dup
NC_000002.12:g.(?_127106850)_(127106953_?)dup
NC_000002.12:g.(?_127654414)_(127657572_?)del
NC_000002.12:g.(?_162288115)_(162288375_?)del
NC_000002.12:g.(?_178535972)_(178536585_?)del
NC_000002.12:g.(?_178595497)_(178622777_?)dup
NC_000002.12:g.(?_178624445)_(178636819_?)del
NC_000002.12:g.(?_178652244)_(178653527_?)del
NC_000002.12:g.(?_178663423)_(178804652_?)del
NC_000002.12:g.(?_178671080)_(178672713_?)del
NC_000002.12:g.(?_178693912)_(178698924_?)del
NC_000002.12:g.(?_178709546)_(178711369_?)del
NC_000002.12:g.(?_178783700)_(178786161_?)del
NC_000002.12:g.(?_178804532)_(178804662_?)del
NC_000002.12:g.(?_47073682)_(47073943_?)dup
NC_000002.12:g.(?_63484584)_(63492960_?)del
NC_000002.12:g.(?_73603231)_(73609622_?)del
NC_000002.12:g.(?_85888804)_(85888925_?)dup
NC_000002.12:g.178784352del rs2154350831
NC_000003.11:g.(?_121489192)_(121489441_?)del
NC_000003.11:g.(?_129150344)_(129159234_?)dup
NC_000003.11:g.(?_129150344)_(129252561_?)dup
NC_000003.11:g.(?_132379382)_(132441199_?)dup
NC_000003.11:g.(?_132407898)_(132411682_?)del
NC_000003.11:g.(?_132413221)_(132415677_?)del
NC_000003.11:g.(?_49547968)_(49548272_?)dup
NC_000003.11:g.(?_49568220)_(49570642_?)dup
NC_000003.11:g.(?_97439105)_(97510809_?)dup
NC_000003.11:g.(?_97486952)_(97487094_?)dup
NC_000003.11:g.(?_97486952)_(97510690_?)dup
NC_000003.11:g.(?_97486952)_(97516893_?)dup
NC_000003.11:g.(?_9908818)_(10191649_?)dup
NC_000003.11:g.(?_9908818)_(9932515_?)dup
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NC_000003.12:g.(?_132465995)_(132722355_?)dup
NC_000003.12:g.49122085_49122087del
NC_000004.11:g.(?_17488754)_(17513677_?)dup
NC_000004.11:g.(?_17513553)_(17513677_?)dup
NC_000004.11:g.(?_184585021)_(184585244_?)dup
NC_000004.11:g.(?_184612449)_(184633797_?)dup
NC_000004.11:g.(?_39184178)_(39259194_?)dup
NC_000004.11:g.(?_39226484)_(39226673_?)del
NC_000004.11:g.(?_39245868)_(39259174_?)del
NC_000004.11:g.(?_52890103)_(52904445_?)dup
NC_000004.11:g.(?_52890123)_(52904425_?)dup
NC_000004.11:g.(?_52899577)_(52899826_?)dup
NC_000004.11:g.(?_52899587)_(52899816_?)dup
NC_000004.11:g.(?_5720955)_(5721120_?)del
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NC_000005.9:g.(?_118809583)_(118877689_?)dup
NC_000005.9:g.(?_118811381)_(118814736_?)del
NC_000005.9:g.(?_118877580)_(118877689_?)del
NC_000005.9:g.(?_140052489)_(140072312_?)del
NC_000005.9:g.(?_140058567)_(140062824_?)dup
NC_000005.9:g.(?_140896398)_(140998501_?)dup
NC_000005.9:g.(?_147443608)_(147516554_?)dup
NC_000005.9:g.(?_147506526)_(147510972_?)del
NC_000005.9:g.(?_155756567)_(155756609_?)dup
NC_000005.9:g.(?_155756587)_(155756609_?)del
NC_000005.9:g.(?_155756587)_(156186401_?)dup
NC_000005.9:g.(?_156184572)_(156186401_?)dup
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NC_000005.9:g.140059894_140070834del
NC_000006.11:g.(?_121401917)_(121769142_?)del
NC_000006.11:g.(?_121767974)_(121769162_?)dup
NC_000006.11:g.(?_137143759)_(137143953_?)dup
NC_000006.11:g.(?_137143759)_(137167339_?)dup
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NC_000006.11:g.(?_152527283)_(152532743_?)del
NC_000006.11:g.(?_152599204)_(152603135_?)dup
NC_000006.11:g.(?_24174958)_(24178880_?)dup
NC_000006.11:g.(?_30695893)_(36953949_?)dup
NC_000006.11:g.(?_32802911)_(32808844_?)dup
NC_000006.11:g.(?_42928506)_(42952462_?)dup
NC_000006.11:g.(?_51483879)_(51491934_?)dup
NC_000006.11:g.(?_51609163)_(51640739_?)dup
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NC_000006.12:g.(?_42923027)_(42984704_?)dup
NC_000007.13:g.(?_117118376)_(117307162_?)dup
NC_000007.13:g.(?_117199476)_(117280016_?)dup
NC_000007.13:g.(?_117199498)_(117199729_?)dup
NC_000007.13:g.(?_117234964)_(117267864_?)dup
NC_000007.13:g.(?_117267556)_(117267869_?)dup
NC_000007.13:g.(?_117267556)_(117307162_?)dup
NC_000007.13:g.(?_117267566)_(117267869_?)dup
NC_000007.13:g.(?_117280015)_(117307162_?)dup
NC_000007.13:g.(?_117292849)_(117307162_?)dup
NC_000007.13:g.(?_117304722)_(117307162_?)dup
NC_000007.13:g.(?_143013306)_(143049058_?)dup
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NC_000007.13:g.(?_16131310)_(16131434_?)dup
NC_000007.13:g.(?_16131310)_(16460957_?)dup
NC_000007.13:g.(?_16131320)_(16348272_?)dup
NC_000007.13:g.(?_16341026)_(16460947_?)dup
NC_000007.13:g.(?_16415697)_(16415886_?)dup
NC_000007.13:g.(?_16415697)_(16460947_?)dup
NC_000007.13:g.(?_2559496)_(2587132_?)dup
NC_000007.13:g.(?_33136085)_(33185996_?)dup
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.13:g.(?_33185865)_(33644838_?)dup
NC_000007.13:g.(?_33192313)_(33195314_?)dup
NC_000007.13:g.(?_33644457)_(33644838_?)dup
NC_000007.13:g.(?_33644477)_(33767915_?)dup
NC_000007.13:g.(?_92116771)_(92151579_?)dup
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_33095234)_(33146364_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NC_000007.14:g.(?_92487437)_(92487561_?)del
NC_000007.14:g.117479900C>A
NC_000007.14:g.26263639_26335651delinsCA
NC_000008.10:g.(?_143822561)_(145743168_?)dup
NC_000008.10:g.(?_144990335)_(145701149_?)dup
NC_000008.10:g.(?_15397940)_(15615318_?)dup
NC_000008.10:g.(?_15588155)_(15615318_?)del
NC_000008.10:g.(?_15601027)_(15621747_?)dup
NC_000008.10:g.(?_30915954)_(31030628_?)dup
NC_000008.10:g.(?_30915958)_(31030624_?)dup
NC_000008.10:g.(?_30915964)_(30942772_?)dup
NC_000008.10:g.(?_30915964)_(30958481_?)dup
NC_000008.10:g.(?_30915964)_(31005012_?)dup
NC_000008.10:g.(?_30921795)_(31030618_?)dup
NC_000008.10:g.(?_30982028)_(30982526_?)del
NC_000008.10:g.(?_30998936)_(31030618_?)dup
NC_000008.10:g.(?_31024528)_(31030618_?)dup
NC_000008.10:g.(?_31030501)_(31030618_?)del
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42958983_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000008.10:g.(?_42958692)_(43054712_?)dup
NC_000008.10:g.(?_42977230)_(43054712_?)dup
NC_000008.10:g.(?_67786376)_(68165857_?)dup
NC_000008.10:g.(?_67976634)_(68071392_?)dup
NC_000008.10:g.(?_68015252)_(68015390_?)dup
NC_000008.10:g.(?_68024187)_(68107828_?)dup
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.10:g.(?_68024197)_(68107828_?)dup
NC_000008.10:g.(?_68070662)_(68071392_?)del
NC_000008.10:g.(?_68105679)_(68105857_?)del
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000008.10:g.(?_74888517)_(75276602_?)dup
NC_000008.10:g.(?_77895497)_(77896414_?)dup
NC_000008.10:g.(?_90944564)_(90997899_?)dup
NC_000008.10:g.(?_90945564)_(90971082_?)dup
NC_000008.10:g.(?_90947800)_(90971092_?)dup
NC_000008.10:g.(?_90947800)_(90996799_?)dup
NC_000008.10:g.(?_90947804)_(90955600_?)dup
NC_000008.10:g.(?_90947804)_(90996795_?)dup
NC_000008.10:g.(?_90947810)_(90958533_?)dup
NC_000008.10:g.(?_90947810)_(90967793_?)dup
NC_000008.10:g.(?_90947810)_(90976745_?)dup
NC_000008.10:g.(?_90955471)_(90996789_?)dup
NC_000008.10:g.(?_90958358)_(90996789_?)dup
NC_000008.10:g.(?_90982582)_(90983528_?)del
NC_000008.10:g.(?_90982582)_(90996789_?)dup
NC_000008.10:g.(?_90993593)_(90996789_?)dup
NC_000008.10:g.(?_90993597)_(90996795_?)dup
NC_000008.11:g.(?_31058448)_(31173102_?)dup
NC_000008.11:g.(?_31154614)_(31154765_?)del
NC_000008.11:g.(?_31172985)_(31173112_?)del
NC_000008.11:g.(?_67010715)_(67064496_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.(?_67193464)_(67193602_?)del
NC_000008.11:g.(?_73976132)_(74367120_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NC_000008.11:g.(?_89935041)_(90051917_?)dup
NC_000008.11:g.(?_89935572)_(89964517_?)dup
NC_000008.11:g.(?_89935582)_(89958864_?)dup
NC_000008.11:g.(?_89935582)_(89984561_?)dup
NC_000008.11:g.(?_89946130)_(89984571_?)dup
NC_000008.11:g.(?_89978210)_(89984561_?)dup
NC_000008.11:g.67195383TGA[3] rs772729206
NC_000009.11:g.(?_102866804)_(103035378_?)dup
NC_000009.11:g.(?_102988324)_(103062956_?)dup
NC_000009.11:g.(?_103004832)_(103009089_?)del
NC_000009.11:g.(?_134395447)_(134395600_?)dup
NC_000009.11:g.(?_135139626)_(140034216_?)dup
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.11:g.(?_140000557)_(140003043_?)dup
NC_000009.11:g.(?_34458984)_(36277059_?)dup
NC_000009.11:g.(?_34458994)_(35072710_?)dup
NC_000009.12:g.(?_100226042)_(100226255_?)del
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NC_000011.10:g.(?_22193483)_(22227596_?)dup
NC_000011.10:g.(?_22239559)_(22279775_?)dup
NC_000011.10:g.(?_45805782)_(45910982_?)dup
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.10:g.(?_88293986)_(88337727_?)dup
NC_000011.10:g.65720153_65720165del
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NC_000011.9:g.(?_111171709)_(112104278_?)dup
NC_000011.9:g.(?_117209303)_(117222724_?)dup
NC_000011.9:g.(?_117209303)_(117234242_?)dup
NC_000011.9:g.(?_117232531)_(117233274_?)del
NC_000011.9:g.(?_117233107)_117234066del
NC_000011.9:g.(?_117261473)_(117342771_?)dup
NC_000011.9:g.(?_117278705)_(117284975_?)del
NC_000011.9:g.(?_1278740)_(2906719_?)dup
NC_000011.9:g.(?_22215039)_(22249152_?)dup
NC_000011.9:g.(?_22215039)_(22272577_?)dup
NC_000011.9:g.(?_22261105)_(22277078_?)del
NC_000011.9:g.(?_22297620)_(22301311_?)dup
NC_000011.9:g.(?_22297630)_(22301321_?)dup
NC_000011.9:g.(?_22297640)_(22304913_?)dup
NC_000011.9:g.(?_45827353)_(45932533_?)dup
NC_000011.9:g.(?_45827353)_(47804770_?)dup
NC_000011.9:g.(?_58916346)_(64972349_?)dup
NC_000011.9:g.(?_612625)_(2193840_?)dup
NC_000011.9:g.(?_63974837)_(63990964_?)dup
NC_000011.9:g.(?_64973914)_(70052579_?)dup
NC_000011.9:g.(?_65325080)_(65639825_?)del
NC_000011.9:g.(?_65633902)_(66115026_?)dup
NC_000011.9:g.(?_65634389)_(65639825_?)dup
NC_000011.9:g.(?_66278131)_(66278730_?)dup
NC_000011.9:g.(?_88027174)_(88029452_?)dup
NC_000011.9:g.(?_88027174)_(89018142_?)dup
NC_000012.11:g.(?_103232953)_(103310908_?)dup
NC_000012.11:g.(?_103288493)_(103352733_?)dup
NC_000012.11:g.(?_6438458)_(7362839_?)dup
NC_000012.11:g.(?_6978008)_(9010204_?)dup
NC_000012.11:g.(?_7342974)_(7362819_?)dup
NC_000012.11:g.(?_76739593)_(76742138_?)dup
NC_000012.11:g.(?_8765336)_(8765383_?)dup
NC_000012.11:g.(?_88442955)_(88449500_?)dup
NC_000012.11:g.(?_88442961)_(88449494_?)dup
NC_000012.11:g.(?_88532902)_(88533361_?)del
NC_000012.11:g.(?_94634261)_(94806266_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NC_000013.10:g.(?_23667335)_(23778038_?)dup
NC_000013.10:g.(?_23667335)_(23869646_?)dup
NC_000013.10:g.(?_23667335)_(23894909_?)dup
NC_000013.10:g.(?_23667335)_(23985388_?)dup
NC_000013.10:g.(?_23777834)_(23985378_?)dup
NC_000013.10:g.(?_23894756)_(23985378_?)dup
NC_000013.10:g.(?_51528021)_(51530610_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000013.11:g.50929475_50929477del
NC_000014.8:g.(?_58894347)_(58894375_?)del
NC_000014.8:g.(?_58894347)_(58899195_?)dup
NC_000014.8:g.(?_58894347)_(59014694_?)dup
NC_000014.8:g.(?_58910652)_(58910913_?)del
NC_000014.8:g.(?_59010581)_(59014694_?)dup
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000014.8:g.(?_60976117)_(61447691_?)del
NC_000014.8:g.(?_77743719)_(77787024_?)dup
NC_000014.8:g.(?_88852143)_(89343774_?)dup
NC_000014.8:g.(?_89291052)_(89305916_?)dup
NC_000014.8:g.(?_89291052)_(89343754_?)dup
NC_000014.8:g.(?_89319295)_(89323641_?)del
NC_000014.8:g.(?_89327546)_(89327696_?)del
NC_000014.9:g.(?_74480254)_(74486456_?)del
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NC_000015.10:g.(?_90747383)_(90769596_?)dup
NC_000015.10:g.(?_90766904)_(90767029_?)del
NC_000015.10:g.(?_90782812)_(90968837_?)dup
NC_000015.9:g.(?_32964879)_(91358519_?)dup
NC_000015.9:g.(?_72978549)_(73029948_?)dup
NC_000015.9:g.(?_72978569)_(75190071_?)dup
NC_000015.9:g.(?_91259558)_(91359692_?)dup
NC_000015.9:g.(?_91290613)_(91298178_?)dup
NC_000015.9:g.(?_91290617)_(91358515_?)dup
NC_000015.9:g.(?_91290623)_(91358509_?)dup
NC_000015.9:g.(?_91290623)_(91512067_?)dup
NC_000015.9:g.(?_91310130)_(91310263_?)del
NC_000015.9:g.(?_91310130)_(91312471_?)dup
NC_000015.9:g.(?_91310134)_(91310259_?)del
NC_000015.9:g.(?_91341410)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358519_?)del
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.10:g.(?_3243121)_(3257201_?)dup
NC_000016.10:g.(?_78386840)_(78432772_?)dup
NC_000016.10:g.(?_78386840)_(78624496_?)dup
NC_000016.10:g.3256984G>C
NC_000016.9:g.(?_13915808)_(14724045_?)dup
NC_000016.9:g.(?_14031613)_(14031725_?)del
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.(?_2546150)_(2550959_?)dup
NC_000016.9:g.(?_2549338)_(2550959_?)dup
NC_000016.9:g.(?_3293141)_(3294608_?)del
NC_000016.9:g.(?_3293141)_(3297266_?)del
NC_000016.9:g.(?_3304138)_(3306587_?)del
NC_000016.9:g.(?_3306291)_(3306587_?)dup
NC_000016.9:g.(?_4386706)_(4387545_?)dup
NC_000016.9:g.(?_49525186)_(51631253_?)del
NC_000016.9:g.(?_49525186)_(51631253_?)dup
NC_000016.9:g.(?_49823378)_(49856596_?)dup
NC_000016.9:g.(?_75573892)_(75574092_?)del
NC_000016.9:g.(?_75573892)_(75579872_?)dup
NC_000016.9:g.(?_75579704)_(75590169_?)dup
NC_000016.9:g.(?_75589682)_(75690509_?)dup
NC_000016.9:g.(?_78133656)_(78133806_?)dup
NC_000016.9:g.(?_78133656)_(78149071_?)dup
NC_000016.9:g.(?_78133656)_(78458972_?)dup
NC_000016.9:g.(?_78133656)_(78466669_?)dup
NC_000016.9:g.(?_78133656)_(78658393_?)dup
NC_000016.9:g.(?_78133671)_(78466659_?)dup
NC_000016.9:g.(?_78133676)_(78420865_?)dup
NC_000016.9:g.(?_78133676)_(78466669_?)dup
NC_000016.9:g.(?_78312480)_(78466669_?)dup
NC_000016.9:g.(?_78312480)_(78658393_?)dup
NC_000017.10:g.(?_33475283)_(34079869_?)dup
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NC_000017.10:g.(?_3533479)_(3571820_?)dup
NC_000017.10:g.(?_39911986)_(39928116_?)dup
NC_000017.10:g.(?_40353756)_(40354846_?)del
NC_000017.10:g.(?_40376777)_(40575115_?)dup
NC_000017.10:g.(?_42151508)_(42153411_?)dup
NC_000017.10:g.(?_42151521)_42160591dup
NC_000017.10:g.(?_48243402)_(48278874_?)dup
NC_000017.10:g.(?_48252608)_(48253303_?)del
NC_000017.10:g.(?_7846709)_(8000124_?)dup
NC_000017.10:g.(?_7906366)_(8027402_?)dup
NC_000018.9:g.(?_18963480)_(21534612_?)dup
NC_000018.9:g.(?_21112146)_(21166327_?)dup
NC_000018.9:g.(?_21112166)_(21153558_?)dup
NC_000018.9:g.(?_21137061)_(21166307_?)dup
NC_000018.9:g.(?_42281312)_(45423127_?)dup
NC_000018.9:g.(?_43432412)_(43547225_?)dup
NC_000018.9:g.(?_43432432)_(43462472_?)del
NC_000018.9:g.(?_43490466)_(43496567_?)dup
NC_000018.9:g.(?_43503214)_(43505888_?)del
NC_000019.9:g.(?_12917488)_(13010355_?)dup
NC_000019.9:g.(?_12923877)_(12924280_?)del
NC_000019.9:g.(?_12923877)_(12924280_?)dup
NC_000020.10:g.(?_10256140)_(10654178_?)dup
NC_000020.10:g.(?_30795725)_(31395729_?)dup
NC_000020.10:g.(?_31368130)_(31369240_?)dup
NC_000020.10:g.(?_35521335)_(35526967_?)dup
NC_000020.10:g.(?_35521335)_(35540975_?)dup
NC_000020.10:g.(?_35521335)_(35563612_?)dup
NC_000020.10:g.(?_35526205)_(35580046_?)dup
NC_000020.10:g.(?_35539601)_(35580066_?)dup
NC_000020.10:g.(?_35545105)_(35547942_?)del
NC_000020.10:g.(?_35547747)_(35547942_?)del
NC_000020.10:g.(?_35559143)_(35575227_?)dup
NC_000020.10:g.(?_35563412)_(35569534_?)del
NC_000020.10:g.(?_35563412)_(35580046_?)dup
NC_000020.10:g.(?_35569422)_(36500415_?)dup
NC_000020.10:g.(?_61978090)_(62324656_?)dup
NC_000020.10:g.(?_62290736)_(62327158_?)dup
NC_000020.10:g.(?_62290756)_(62327211_?)dup
NC_000020.10:g.(?_62290756)_(62328484_?)dup
NC_000020.10:g.(?_62325705)_(62329916_?)dup
NC_000020.10:g.(?_62325715)_(62326337_?)del
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NC_000020.11:g.(?_63659403)_(63693293_?)dup
NC_000020.11:g.36904246CCT[1]
NC_000020.11:g.63692805GAG[1] rs2145445535
NC_000022.10:g.(?_18562620)_(18562800_?)dup
NC_000022.10:g.(?_41264983)_(41729217_?)dup
NC_000022.10:g.(?_41277754)_(41278201_?)del
NC_000022.11:g.(?_17877577)_(18088075_?)dup
NC_012920.1:m.14771C>A rs1556424489
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*467_*470dup rs537463051
NM_000019.3(ACAT1):c.*668G>T rs2077754843
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val) rs774524997
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp) rs2134798319
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) rs2077741217
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) rs2077742350
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val) rs545826042
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
NM_000019.4(ACAT1):c.239-7A>G rs2077417069
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu) rs1235436246
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) rs1591362483
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
NM_000019.4(ACAT1):c.333A>G (p.Ala111=) rs2135336477
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe)
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe) rs2077446791
NM_000019.4(ACAT1):c.435+4A>G rs1424341036
NM_000019.4(ACAT1):c.436-15G>A
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn) rs2077523952
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile)
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) rs1198149157
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly)
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) rs1591368724
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) rs1591368826
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro) rs2134761406
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) rs2077152202
NM_000019.4(ACAT1):c.72+6C>A
NM_000019.4(ACAT1):c.730+6G>C
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) rs1591370241
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) rs1591370252
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
NM_000019.4(ACAT1):c.826+3_826+6del
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) rs1591371019
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr) rs1318357125
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000023.4(SGCA):c.-5C>G rs776195527
NM_000023.4(SGCA):c.1001A>G (p.His334Arg)
NM_000023.4(SGCA):c.1007_1009dup (p.Thr336dup) rs2144511791
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr) rs1353699486
NM_000023.4(SGCA):c.103G>A (p.Val35Ile)
NM_000023.4(SGCA):c.1041G>A (p.Met347Ile)
NM_000023.4(SGCA):c.1043C>T (p.Ala348Val)
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln) rs763372958
NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg)
NM_000023.4(SGCA):c.106T>G (p.Phe36Val) rs1904989565
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe) rs1173172749
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu) rs1905851242
NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)
NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser)
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly) rs1376381665
NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn)
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs) rs1487379783
NM_000023.4(SGCA):c.13C>G (p.Leu5Val) rs2144488329
NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)
NM_000023.4(SGCA):c.160G>A (p.Val54Ile) rs1485826147
NM_000023.4(SGCA):c.164C>T (p.Pro55Leu)
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000023.4(SGCA):c.187C>T (p.His63Tyr) rs1905021704
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser) rs1348067599
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu) rs2144494297
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu) rs2144494380
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.284C>G (p.Pro95Arg) rs1905033797
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del) rs1555568389
NM_000023.4(SGCA):c.286G>A (p.Glu96Lys)
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
NM_000023.4(SGCA):c.304G>A (p.Val102Ile) rs1266940329
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys) rs2144494625
NM_000023.4(SGCA):c.312+11G>A
NM_000023.4(SGCA):c.312G>A (p.Glu104=) rs886044401
NM_000023.4(SGCA):c.313-3C>T rs1905060607
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
NM_000023.4(SGCA):c.333C>A (p.Asp111Glu) rs1905064323
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala) rs749097695
NM_000023.4(SGCA):c.37+5G>T
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn) rs1905070029
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000023.4(SGCA):c.385+5C>T
NM_000023.4(SGCA):c.388C>T (p.Pro130Ser)
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu) rs372046855
NM_000023.4(SGCA):c.436G>C (p.Glu146Gln) rs1555568758
NM_000023.4(SGCA):c.448C>A (p.Pro150Thr)
NM_000023.4(SGCA):c.461C>T (p.Ala154Val) rs957820595
NM_000023.4(SGCA):c.465C>G (p.Ser155Arg) rs2144496691
NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp) rs1555568788
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp) rs1598267318
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.523G>A (p.Val175Ile)
NM_000023.4(SGCA):c.52C>G (p.Leu18Val) rs1555568100
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
NM_000023.4(SGCA):c.542G>T (p.Arg181Leu) rs746412103
NM_000023.4(SGCA):c.548G>T (p.Gly183Val) rs773107290
NM_000023.4(SGCA):c.550C>T (p.Arg184Cys)
NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)
NM_000023.4(SGCA):c.584G>T (p.Gly195Val)
NM_000023.4(SGCA):c.586G>T (p.Val196Leu) rs752695991
NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del) rs1555568966
NM_000023.4(SGCA):c.608C>T (p.Ala203Val)
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala) rs1555568984
NM_000023.4(SGCA):c.635T>A (p.Met212Lys) rs2144498202
NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
NM_000023.4(SGCA):c.643T>C (p.Ser215Pro) rs76542495
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.646C>T (p.Pro216Ser)
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro) rs138254713
NM_000023.4(SGCA):c.668C>T (p.Ala223Val)
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp) rs886044540
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr) rs2144498403
NM_000023.4(SGCA):c.696C>G (p.Cys232Trp)
NM_000023.4(SGCA):c.718T>G (p.Phe240Val) rs1555569031
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn) rs1555569038
NM_000023.4(SGCA):c.731G>C (p.Trp244Ser)
NM_000023.4(SGCA):c.748-10C>A rs886042777
NM_000023.4(SGCA):c.748-11_748-10delinsAA rs2144500582
NM_000023.4(SGCA):c.748G>T (p.Val250Leu) rs1473539605
NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
NM_000023.4(SGCA):c.750G>A (p.Val250=)
NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
NM_000023.4(SGCA):c.772G>T (p.Ala258Ser) rs934936899
NM_000023.4(SGCA):c.781G>A (p.Val261Met) rs754703769
NM_000023.4(SGCA):c.781G>T (p.Val261Leu) rs754703769
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del) rs750086289
NM_000023.4(SGCA):c.829C>T (p.Pro277Ser) rs2144500932
NM_000023.4(SGCA):c.842C>T (p.Ala281Val) rs1905262104
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del) rs1555569303
NM_000023.4(SGCA):c.905T>C (p.Leu302Pro)
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu) rs1309107612
NM_000023.4(SGCA):c.977C>T (p.Thr326Ile)
NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_000049.4(ASPA):c.806C>T (p.Thr269Met) rs773849106
NM_000057.4(BLM):c.-33G>C rs938444227
NM_000057.4(BLM):c.-4-2A>T rs866546098
NM_000057.4(BLM):c.1001T>A (p.Val334Asp) rs1895775882
NM_000057.4(BLM):c.1003C>G (p.Leu335Val) rs1265514490
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn) rs2151152181
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala) rs2151152195
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu) rs1596223833
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn) rs1596223836
NM_000057.4(BLM):c.1018G>C (p.Asp340His) rs1596223836
NM_000057.4(BLM):c.1020T>A (p.Asp340Glu) rs2151152205
NM_000057.4(BLM):c.1021C>A (p.Leu341Ile)
NM_000057.4(BLM):c.1021C>T (p.Leu341Phe) rs2151152210
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser) rs1596223853
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr) rs776620199
NM_000057.4(BLM):c.1034C>T (p.Pro345Leu)
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala) rs1946402648
NM_000057.4(BLM):c.1043T>C (p.Met348Thr)
NM_000057.4(BLM):c.1044G>T (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1045A>G (p.Ser349Gly) rs1895778101
NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del)
NM_000057.4(BLM):c.1046G>A (p.Ser349Asn) rs761783430
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys) rs369583279
NM_000057.4(BLM):c.1057C>G (p.Leu353Val) rs1895778737
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala) rs1895778825
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu) rs1022898915
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg) rs1336484885
NM_000057.4(BLM):c.1073G>A (p.Ser358Asn)
NM_000057.4(BLM):c.1073G>T (p.Ser358Ile) rs750203166
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) rs1332024999
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly)
NM_000057.4(BLM):c.107C>G (p.Thr36Ser) rs1895599706
NM_000057.4(BLM):c.1087+5A>G
NM_000057.4(BLM):c.1088-35C>T rs1359919212
NM_000057.4(BLM):c.1088-5T>A
NM_000057.4(BLM):c.1088-5del rs1596228766
NM_000057.4(BLM):c.1088-8T>G rs1596228765
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1095G>A (p.Gln365=)
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
NM_000057.4(BLM):c.10G>A (p.Val4Ile) rs1466614215
NM_000057.4(BLM):c.10G>C (p.Val4Leu) rs1466614215
NM_000057.4(BLM):c.10G>T (p.Val4Phe) rs1466614215
NM_000057.4(BLM):c.1100G>C (p.Ser367Thr)
NM_000057.4(BLM):c.1105C>A (p.Gln369Lys) rs1049658021
NM_000057.4(BLM):c.1105C>G (p.Gln369Glu)
NM_000057.4(BLM):c.1107G>T (p.Gln369His) rs1895931307
NM_000057.4(BLM):c.1109A>C (p.Gln370Pro) rs773198283
NM_000057.4(BLM):c.1114C>A (p.Leu372Ile) rs1480729955
NM_000057.4(BLM):c.1114C>T (p.Leu372Phe) rs1480729955
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.4(BLM):c.1118T>C (p.Ile373Thr)
NM_000057.4(BLM):c.1120C>G (p.His374Asp) rs2151157246
NM_000057.4(BLM):c.1123G>C (p.Val375Leu) rs1596228852
NM_000057.4(BLM):c.1126A>C (p.Met376Leu) rs1895932695
NM_000057.4(BLM):c.1127T>C (p.Met376Thr) rs2151157273
NM_000057.4(BLM):c.1128G>A (p.Met376Ile)
NM_000057.4(BLM):c.1131G>C (p.Glu377Asp) rs764842587
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.1135A>G (p.Ile379Val) rs1895933431
NM_000057.4(BLM):c.1136T>G (p.Ile379Ser) rs1408233877
NM_000057.4(BLM):c.1137C>G (p.Ile379Met) rs1178783782
NM_000057.4(BLM):c.1137C>T (p.Ile379=)
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
NM_000057.4(BLM):c.113A>C (p.Lys38Thr) rs2151146691
NM_000057.4(BLM):c.113A>G (p.Lys38Arg) rs2151146691
NM_000057.4(BLM):c.1147A>G (p.Ile383Val) rs1895933936
NM_000057.4(BLM):c.1150G>A (p.Asp384Asn)
NM_000057.4(BLM):c.1150G>C (p.Asp384His) rs1895934142
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala) rs1895934308
NM_000057.4(BLM):c.1157T>G (p.Ile386Ser) rs2151157373
NM_000057.4(BLM):c.1159C>A (p.Pro387Thr)
NM_000057.4(BLM):c.1163A>G (p.Asp388Gly)
NM_000057.4(BLM):c.1165G>C (p.Asp389His) rs746170218
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly) rs1555419732
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr) rs1596228946
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe) rs1895935448
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu) rs1596228978
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp) rs1596228991
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
NM_000057.4(BLM):c.11T>A (p.Val4Asp) rs144706057
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) rs151150267
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)
NM_000057.4(BLM):c.1205A>G (p.Gln402Arg)
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
NM_000057.4(BLM):c.1208A>C (p.Gln403Pro)
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu) rs776516663
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser) rs752223894
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr) rs2151157512
NM_000057.4(BLM):c.1220+3A>T
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys) rs1350192744
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1221-3C>T
NM_000057.4(BLM):c.1221-7T>G
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser) rs900060314
NM_000057.4(BLM):c.1221A>G (p.Arg407=) rs900060314
NM_000057.4(BLM):c.1225A>G (p.Lys409Glu)
NM_000057.4(BLM):c.1228C>G (p.Leu410Val) rs200688933
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe) rs200688933
NM_000057.4(BLM):c.1231C>G (p.Leu411Val) rs1567040779
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln) rs887921909
NM_000057.4(BLM):c.1243G>C (p.Asp415His)
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser) rs2151157798
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile)
NM_000057.4(BLM):c.1258G>C (p.Asp420His) rs1895947012
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly) rs773952896
NM_000057.4(BLM):c.125C>T (p.Ser42Phe) rs763065919
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser) rs587779879
NM_000057.4(BLM):c.1262C>G (p.Ala421Gly)
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp) rs1244225539
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
NM_000057.4(BLM):c.1287A>C (p.Arg429Ser)
NM_000057.4(BLM):c.1287A>T (p.Arg429Ser) rs1895949043
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu)
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
NM_000057.4(BLM):c.1308T>G (p.Asp436Glu) rs140178590
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
NM_000057.4(BLM):c.130G>T (p.Asp44Tyr) rs1249086421
NM_000057.4(BLM):c.1312C>T (p.Pro438Ser)
NM_000057.4(BLM):c.1313C>T (p.Pro438Leu)
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
NM_000057.4(BLM):c.131A>G (p.Asp44Gly) rs1895600607
NM_000057.4(BLM):c.1321G>A (p.Gly441Ser)
NM_000057.4(BLM):c.1322G>T (p.Gly441Val) rs2151157998
NM_000057.4(BLM):c.1330T>G (p.Cys444Gly) rs745820610
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe) rs1555419834
NM_000057.4(BLM):c.1336A>G (p.Thr446Ala)
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser) rs1567040932
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile)
NM_000057.4(BLM):c.1339G>T (p.Gly447Trp)
NM_000057.4(BLM):c.133A>G (p.Asn45Asp)
NM_000057.4(BLM):c.1341G>T (p.Gly447=)
NM_000057.4(BLM):c.1345T>A (p.Ser449Thr) rs1895952979
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr) rs967698170
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys) rs967698170
NM_000057.4(BLM):c.1348A>C (p.Met450Leu)
NM_000057.4(BLM):c.1349T>A (p.Met450Lys) rs2151158079
NM_000057.4(BLM):c.1349T>C (p.Met450Thr) rs2151158079
NM_000057.4(BLM):c.134A>G (p.Asn45Ser) rs1555418242
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser)
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser) rs1895953927
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu)
NM_000057.4(BLM):c.1369C>T (p.His457Tyr) rs1895954255
NM_000057.4(BLM):c.1370A>C (p.His457Pro)
NM_000057.4(BLM):c.1370A>G (p.His457Arg) rs2151158103
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
NM_000057.4(BLM):c.1376C>A (p.Pro459His) rs1302320494
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) rs1555419857
NM_000057.4(BLM):c.138T>G (p.Asn46Lys) rs1895600929
NM_000057.4(BLM):c.1391C>T (p.Ser464Phe) rs1303724070
NM_000057.4(BLM):c.1394C>A (p.Pro465His) rs561545349
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu) rs1567041006
NM_000057.4(BLM):c.13C>T (p.Pro5Ser) rs760982604
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp) rs1236929438
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala) rs2151158175
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro)
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg) rs2151158198
NM_000057.4(BLM):c.142T>A (p.Ser48Thr) rs1895601138
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile) rs1567041041
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg) rs1490929990
NM_000057.4(BLM):c.1433G>T (p.Gly478Val)
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr) rs1418071613
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu) rs1567041060
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) rs1555419877
NM_000057.4(BLM):c.1439C>T (p.Ser480Phe) rs2151158229
NM_000057.4(BLM):c.1441G>A (p.Ala481Thr)
NM_000057.4(BLM):c.1444A>C (p.Thr482Pro)
NM_000057.4(BLM):c.1445C>A (p.Thr482Asn)
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser)
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys) rs2151158261
NM_000057.4(BLM):c.145G>A (p.Val49Ile) rs558379347
NM_000057.4(BLM):c.1460T>C (p.Phe487Ser) rs992038495
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser) rs1567041087
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.146T>C (p.Val49Ala) rs1895601341
NM_000057.4(BLM):c.1476C>G (p.Phe492Leu)
NM_000057.4(BLM):c.1476_1487del (p.Phe492_His495del) rs1895959648
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.1484A>G (p.His495Arg) rs2151158309
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1491G>T (p.Gln497His)
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1501G>A (p.Val501Ile) rs1596230032
NM_000057.4(BLM):c.1505G>A (p.Ser502Asn)
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn) rs1352036324
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys) rs1286401716
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
NM_000057.4(BLM):c.1526C>T (p.Pro509Leu) rs1457782246
NM_000057.4(BLM):c.1530A>T (p.Arg510Ser)
NM_000057.4(BLM):c.1532T>A (p.Leu511Gln) rs1446287900
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg) rs1446287900
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile) rs550463714
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn)
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys)
NM_000057.4(BLM):c.154G>A (p.Val52Met) rs2151146745
NM_000057.4(BLM):c.1550G>C (p.Ser517Thr) rs2151158461
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro) rs1596230139
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe) rs1596230143
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp) rs1895964366
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser) rs1451973495
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg) rs1895965135
NM_000057.4(BLM):c.1573C>G (p.Leu525Val) rs2151158518
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
NM_000057.4(BLM):c.157T>A (p.Ser53Thr) rs1555418248
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) rs1596230185
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr)
NM_000057.4(BLM):c.1589T>C (p.Val530Ala) rs2151158554
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr) rs1895966276
NM_000057.4(BLM):c.1593A>T (p.Lys531Asn) rs1239709333
NM_000057.4(BLM):c.1594G>A (p.Asp532Asn)
NM_000057.4(BLM):c.1594G>C (p.Asp532His) rs753723424
NM_000057.4(BLM):c.1595A>G (p.Asp532Gly) rs1895966610
NM_000057.4(BLM):c.1596_1598del (p.Asp532_Gln533delinsGlu) rs1895966710
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr) rs1318049766
NM_000057.4(BLM):c.1618A>G (p.Ile540Val) rs1060500641
NM_000057.4(BLM):c.1619T>A (p.Ile540Lys) rs1596230232
NM_000057.4(BLM):c.1620A>G (p.Ile540Met) rs1596230234
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser) rs1240946873
NM_000057.4(BLM):c.1624G>A (p.Asp542Asn)
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu) rs1895968518
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly) rs1596230280
NM_000057.4(BLM):c.1634G>A (p.Arg545Lys)
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.164C>G (p.Ala55Gly) rs1895601835
NM_000057.4(BLM):c.164C>T (p.Ala55Val) rs1895601835
NM_000057.4(BLM):c.1657A>G (p.Ile553Val) rs778873363
NM_000057.4(BLM):c.1660G>A (p.Asp554Asn) rs2151158694
NM_000057.4(BLM):c.1672A>G (p.Ile558Val)
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr) rs1469407831
NM_000057.4(BLM):c.1675_1676delinsTT (p.Asp559Phe) rs2151158719
NM_000057.4(BLM):c.1676A>G (p.Asp559Gly) rs1596230337
NM_000057.4(BLM):c.1676A>T (p.Asp559Val) rs1596230337
NM_000057.4(BLM):c.1678G>A (p.Asp560Asn) rs746386524
NM_000057.4(BLM):c.1678G>C (p.Asp560His) rs746386524
NM_000057.4(BLM):c.1679A>C (p.Asp560Ala)
NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del)
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp) rs1895970884
NM_000057.4(BLM):c.1683TGA[4] (p.Asp566del) rs768095141
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1685A>T (p.Asp562Val) rs2151158749
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu) rs1895971165
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) rs1288457938
NM_000057.4(BLM):c.1690G>A (p.Asp564Asn)
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly) rs1555419944
NM_000057.4(BLM):c.1691A>T (p.Asp564Val) rs1555419944
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly) rs1895971955
NM_000057.4(BLM):c.1708A>C (p.Ile570Leu) rs775758928
NM_000057.4(BLM):c.1708A>G (p.Ile570Val) rs775758928
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr) rs1567041376
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.1715A>C (p.His572Pro) rs763355238
NM_000057.4(BLM):c.1715A>G (p.His572Arg) rs763355238
NM_000057.4(BLM):c.1717A>C (p.Asn573His)
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys) rs1895973169
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg) rs761955701
NM_000057.4(BLM):c.172C>A (p.Pro58Thr) rs1596217837
NM_000057.4(BLM):c.172C>T (p.Pro58Ser) rs1596217837
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn) rs1567041417
NM_000057.4(BLM):c.1733A>C (p.Lys578Thr) rs2151158873
NM_000057.4(BLM):c.1733A>G (p.Lys578Arg)
NM_000057.4(BLM):c.1734A>C (p.Lys578Asn) rs1895974192
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn)
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe)
NM_000057.4(BLM):c.1744G>C (p.Ala582Pro)
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser) rs1043484811
NM_000057.4(BLM):c.1748C>T (p.Ala583Val)
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys)
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser) rs1895975290
NM_000057.4(BLM):c.1761C>G (p.Ile587Met) rs2151158924
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg)
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile) rs2151158958
NM_000057.4(BLM):c.1786G>A (p.Val596Ile) rs1596230556
NM_000057.4(BLM):c.1796G>C (p.Arg599Thr)
NM_000057.4(BLM):c.1798C>T (p.Leu600Phe) rs1466022684
NM_000057.4(BLM):c.17A>C (p.Gln6Pro) rs1248128883
NM_000057.4(BLM):c.1802C>A (p.Ser601Tyr) rs751951251
NM_000057.4(BLM):c.1802C>G (p.Ser601Cys) rs751951251
NM_000057.4(BLM):c.1802C>T (p.Ser601Phe) rs751951251
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala) rs1895977282
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu) rs2151159026
NM_000057.4(BLM):c.1808C>A (p.Ala603Asp) rs1567041486
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly) rs1567041486
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu)
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu)
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser)
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu) rs1895978264
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu) rs1895978539
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro)
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr) rs1895978868
NM_000057.4(BLM):c.1840G>C (p.Ala614Pro)
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg) rs1895978967
NM_000057.4(BLM):c.1846A>T (p.Asn616Tyr) rs1895979171
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr) rs868510206
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu)
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
NM_000057.4(BLM):c.186T>A (p.Asn62Lys) rs146735953
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg) rs2151159195
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala) rs1895981084
NM_000057.4(BLM):c.1880C>T (p.Thr627Ile)
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn)
NM_000057.4(BLM):c.1883-19A>G
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr) rs1567042153
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro)
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro) rs1896025240
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys) rs1596232081
NM_000057.4(BLM):c.1909A>G (p.Arg637Gly)
NM_000057.4(BLM):c.190G>C (p.Asp64His) rs1895602796
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1915C>A (p.Leu639Met)
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu)
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.4(BLM):c.1922A>T (p.His641Leu) rs2151160545
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser) rs373090621
NM_000057.4(BLM):c.1928G>T (p.Arg643Leu)
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu) rs377563699
NM_000057.4(BLM):c.1937G>C (p.Ser646Thr)
NM_000057.4(BLM):c.1939C>G (p.Leu647Val) rs1896027269
NM_000057.4(BLM):c.1939C>T (p.Leu647Phe) rs1896027269
NM_000057.4(BLM):c.193G>A (p.Val65Ile) rs1895603124
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro) rs1555420162
NM_000057.4(BLM):c.1949C>T (p.Pro650Leu) rs2151160613
NM_000057.4(BLM):c.1958A>C (p.Lys653Thr) rs1896028357
NM_000057.4(BLM):c.1958A>T (p.Lys653Met) rs1896028357
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1965G>C (p.Met655Ile) rs369777747
NM_000057.4(BLM):c.1966A>G (p.Met656Val) rs2151160648
NM_000057.4(BLM):c.196A>G (p.Asn66Asp)
NM_000057.4(BLM):c.1970A>T (p.Lys657Met) rs1896029053
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) rs1567042248
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr) rs187379039
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.1979A>G (p.His660Arg) rs1896029572
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile)
NM_000057.4(BLM):c.1995G>T (p.Leu665=)
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.1A>G (p.Met1Val)
NM_000057.4(BLM):c.2016G>C (p.Gln672His)
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser)
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr) rs1896031109
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn) rs2151160786
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr) rs1896032110
NM_000057.4(BLM):c.2056T>C (p.Phe686Leu) rs1896032220
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2060T>C (p.Ile687Thr)
NM_000057.4(BLM):c.2061C>G (p.Ile687Met) rs2151160806
NM_000057.4(BLM):c.2063T>C (p.Leu688Pro)
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2071A>T (p.Thr691Ser) rs2151160830
NM_000057.4(BLM):c.2072C>T (p.Thr691Ile) rs1896032772
NM_000057.4(BLM):c.2074+5_2074+8del
NM_000057.4(BLM):c.2075-14T>G
NM_000057.4(BLM):c.2075-3C>T rs1896091271
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser) rs565078630
NM_000057.4(BLM):c.2084A>G (p.Lys695Arg) rs2151162329
NM_000057.4(BLM):c.2086A>G (p.Ser696Gly) rs1896091802
NM_000057.4(BLM):c.208G>A (p.Asp70Asn) rs769957028
NM_000057.4(BLM):c.2090T>C (p.Leu697Ser) rs1896092004
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
NM_000057.4(BLM):c.209A>G (p.Asp70Gly) rs2151146849
NM_000057.4(BLM):c.2101C>A (p.Leu701Ile)
NM_000057.4(BLM):c.2102T>G (p.Leu701Arg) rs759414733
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg)
NM_000057.4(BLM):c.2113G>C (p.Val705Leu) rs767321886
NM_000057.4(BLM):c.2114T>A (p.Val705Asp) rs1596234166
NM_000057.4(BLM):c.2117C>T (p.Ser706Phe) rs1596234178
NM_000057.4(BLM):c.211T>A (p.Phe71Ile)
NM_000057.4(BLM):c.211T>C (p.Phe71Leu) rs2151146855
NM_000057.4(BLM):c.2122G>A (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu) rs763559820
NM_000057.4(BLM):c.2126T>A (p.Val709Asp) rs1896094774
NM_000057.4(BLM):c.2131G>A (p.Val711Ile) rs2151162449
NM_000057.4(BLM):c.2134_2136del (p.Val712del)
NM_000057.4(BLM):c.2137A>G (p.Ile713Val) rs1896094984
NM_000057.4(BLM):c.2139T>G (p.Ile713Met) rs1896095110
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr)
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly) rs1896096525
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu) rs2151162501
NM_000057.4(BLM):c.2170G>A (p.Val724Ile) rs1896096762
NM_000057.4(BLM):c.2171T>G (p.Val724Gly)
NM_000057.4(BLM):c.2183C>A (p.Thr728Asn) rs1567043208
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser) rs1567043208
NM_000057.4(BLM):c.2185T>G (p.Ser729Ala) rs2151162523
NM_000057.4(BLM):c.2186C>T (p.Ser729Phe)
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn) rs1459619445
NM_000057.4(BLM):c.2193+5G>C
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr) rs1301298294
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser) rs1301298294
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile) rs1596235743
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2206T>C (p.Tyr736His) rs2151163786
NM_000057.4(BLM):c.220A>G (p.Ser74Gly) rs1895604535
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala) rs1050741211
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser) rs745642690
NM_000057.4(BLM):c.221G>T (p.Ser74Ile)
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser) rs1596235858
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly)
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr) rs1896147300
NM_000057.4(BLM):c.2239A>G (p.Thr747Ala)
NM_000057.4(BLM):c.223G>C (p.Glu75Gln) rs1205667946
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe) rs1292127075
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys) rs1424485988
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro) rs2151163946
NM_000057.4(BLM):c.2269G>C (p.Asp757His) rs2151163965
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.4(BLM):c.2271C>A (p.Asp757Glu)
NM_000057.4(BLM):c.2273C>T (p.Pro758Leu) rs2151163980
NM_000057.4(BLM):c.2275A>G (p.Ile759Val)
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr) rs1056077835
NM_000057.4(BLM):c.2278A>G (p.Ile760Val) rs1896150112
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu)
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn) rs1896150452
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln)
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2291A>G (p.Tyr764Cys)
NM_000057.4(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu)
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2307+1G>C
NM_000057.4(BLM):c.2307+5G>A rs1596236061
NM_000057.4(BLM):c.2307+5G>C rs1596236061
NM_000057.4(BLM):c.2307G>A (p.Lys769=)
NM_000057.4(BLM):c.2308-17A>G
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.4(BLM):c.2312G>T (p.Cys771Phe)
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly)
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) rs1896222659
NM_000057.4(BLM):c.2326C>G (p.Leu776Val) rs1483824560
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
NM_000057.4(BLM):c.232C>T (p.Pro78Ser)
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr) rs2151165699
NM_000057.4(BLM):c.2331T>G (p.Ile777Met)
NM_000057.4(BLM):c.233C>G (p.Pro78Arg) rs2151146905
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp)
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser) rs1896223925
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe)
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu) rs2151165751
NM_000057.4(BLM):c.2362C>G (p.Leu788Val) rs149754073
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe) rs149754073
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
NM_000057.4(BLM):c.2368G>C (p.Ala790Pro)
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser) rs777355959
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
NM_000057.4(BLM):c.2369C>T (p.Ala790Val) rs2151165767
NM_000057.4(BLM):c.2374T>G (p.Phe792Val) rs982156188
NM_000057.4(BLM):c.2375T>G (p.Phe792Cys)
NM_000057.4(BLM):c.2377G>A (p.Val793Ile) rs1198070682
NM_000057.4(BLM):c.2383G>A (p.Asp795Asn)
NM_000057.4(BLM):c.2384A>C (p.Asp795Ala)
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly) rs1596238327
NM_000057.4(BLM):c.2389G>A (p.Ala797Thr)
NM_000057.4(BLM):c.2389G>C (p.Ala797Pro)
NM_000057.4(BLM):c.238A>G (p.Thr80Ala) rs1555418290
NM_000057.4(BLM):c.2390C>T (p.Ala797Val) rs1896226916
NM_000057.4(BLM):c.2392C>G (p.His798Asp) rs1896227131
NM_000057.4(BLM):c.2393A>G (p.His798Arg) rs1596238349
NM_000057.4(BLM):c.2393A>T (p.His798Leu) rs1596238349
NM_000057.4(BLM):c.239C>T (p.Thr80Ile) rs766303926
NM_000057.4(BLM):c.2400C>A (p.Val800=)
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr) rs1348827963
NM_000057.4(BLM):c.2407-5A>G rs1555420870
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg) rs148394770
NM_000057.4(BLM):c.2414A>G (p.His805Arg) rs766292814
NM_000057.4(BLM):c.2415T>A (p.His805Gln) rs1896235784
NM_000057.4(BLM):c.2419T>C (p.Phe807Leu)
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2420T>G (p.Phe807Cys)
NM_000057.4(BLM):c.2422C>G (p.Arg808Gly)
NM_000057.4(BLM):c.2427A>G (p.Gln809=) rs1896236372
NM_000057.4(BLM):c.242C>A (p.Thr81Lys)
NM_000057.4(BLM):c.242C>G (p.Thr81Arg) rs1895606466
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu) rs763827222
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg)
NM_000057.4(BLM):c.2438G>C (p.Arg813Thr)
NM_000057.4(BLM):c.2441T>C (p.Met814Thr) rs1596238678
NM_000057.4(BLM):c.2442G>T (p.Met814Ile) rs1896237351
NM_000057.4(BLM):c.2445T>G (p.Asn815Lys) rs1896237458
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
NM_000057.4(BLM):c.2449C>G (p.Leu817Val)
NM_000057.4(BLM):c.244A>T (p.Asn82Tyr) rs2151146930
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu) rs780514723
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro)
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg) rs1896238883
NM_000057.4(BLM):c.245A>G (p.Asn82Ser) rs1555418292
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn) rs1596238751
NM_000057.4(BLM):c.2465C>G (p.Pro822Arg) rs2151166181
NM_000057.4(BLM):c.2468C>G (p.Ser823Cys)
NM_000057.4(BLM):c.2476G>T (p.Val826Leu) rs1319281718
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.4(BLM):c.2480T>C (p.Met827Thr) rs748250819
NM_000057.4(BLM):c.2483C>T (p.Ala828Val) rs2151166225
NM_000057.4(BLM):c.2485C>T (p.Leu829Phe)
NM_000057.4(BLM):c.2489C>A (p.Thr830Lys) rs759545027
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg) rs759545027
NM_000057.4(BLM):c.248A>G (p.Gln83Arg) rs377192173
NM_000057.4(BLM):c.2491G>A (p.Ala831Thr) rs2151166245
NM_000057.4(BLM):c.2491G>C (p.Ala831Pro)
NM_000057.4(BLM):c.2492C>T (p.Ala831Val)
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2501A>C (p.Asn834Thr) rs1896241238
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser) rs2151166278
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly) rs577806633
NM_000057.4(BLM):c.2512C>A (p.Gln838Lys) rs2151166312
NM_000057.4(BLM):c.2515_2517del (p.Lys839del)
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr)
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg) rs756815062
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn) rs1238410843
NM_000057.4(BLM):c.2518G>C (p.Asp840His) rs1238410843
NM_000057.4(BLM):c.2519A>C (p.Asp840Ala) rs1896242514
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile) rs137853152
NM_000057.4(BLM):c.252A>C (p.Gln84His) rs370062646
NM_000057.4(BLM):c.2532G>T (p.Gln844His) rs1596238939
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
NM_000057.4(BLM):c.2536A>G (p.Lys846Glu) rs2151166388
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr) rs2151166394
NM_000057.4(BLM):c.2539A>C (p.Ile847Leu) rs1896243843
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe) rs1896243843
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) rs756664681
NM_000057.4(BLM):c.2543T>G (p.Leu848Arg) rs2151166410
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser)
NM_000057.4(BLM):c.2549C>G (p.Pro850Arg)
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu) rs1896244485
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)
NM_000057.4(BLM):c.2553G>C (p.Gln851His)
NM_000057.4(BLM):c.2553G>T (p.Gln851His) rs1896244976
NM_000057.4(BLM):c.2554G>C (p.Val852Leu) rs1896245090
NM_000057.4(BLM):c.2555+5del
NM_000057.4(BLM):c.2555+6T>C rs1596238993
NM_000057.4(BLM):c.2556-12G>A
NM_000057.4(BLM):c.2556-18T>G rs2151177989
NM_000057.4(BLM):c.2556-8T>A rs1567052156
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
NM_000057.4(BLM):c.2561G>T (p.Ser854Ile)
NM_000057.4(BLM):c.2563A>G (p.Met855Val) rs1567052166
NM_000057.4(BLM):c.2565G>C (p.Met855Ile)
NM_000057.4(BLM):c.256G>C (p.Val86Leu) rs1596218041
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) rs1567052169
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp) rs1555422355
NM_000057.4(BLM):c.2574C>T (p.Asn858=)
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
NM_000057.4(BLM):c.2579A>G (p.His860Arg)
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
NM_000057.4(BLM):c.2584C>G (p.Leu862Val) rs1596250300
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser) rs777842626
NM_000057.4(BLM):c.2596G>A (p.Val866Ile) rs1316728192
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
NM_000057.4(BLM):c.2603C>A (p.Pro868Gln) rs2227935
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg) rs2227935
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln) rs1555422363
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu)
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln) rs2151178094
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)
NM_000057.4(BLM):c.2617A>G (p.Lys873Glu) rs2151178110
NM_000057.4(BLM):c.2618A>T (p.Lys873Met)
NM_000057.4(BLM):c.2620G>A (p.Val874Met) rs1896652959
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) rs1596250413
NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr)
NM_000057.4(BLM):c.262G>C (p.Asp88His) rs752379441
NM_000057.4(BLM):c.262G>T (p.Asp88Tyr)
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly) rs1373872204
NM_000057.4(BLM):c.2633G>A (p.Cys878Tyr)
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly) rs2151178151
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys) rs367543039
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys)
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly) rs1035944262
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2653C>T (p.His885Tyr) rs2151178164
NM_000057.4(BLM):c.2656C>T (p.His886Tyr)
NM_000057.4(BLM):c.265T>A (p.Phe89Ile) rs1895607752
NM_000057.4(BLM):c.2662+3G>A rs1297020716
NM_000057.4(BLM):c.2662+6T>C
NM_000057.4(BLM):c.2663-13G>A
NM_000057.4(BLM):c.2663-5G>A rs1161787867
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2673G>T (p.Gly891=)
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
NM_000057.4(BLM):c.267C>A (p.Phe89Leu)
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.4(BLM):c.2686C>G (p.Leu896Val) rs151309611
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe) rs151309611
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro) rs1896706876
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly) rs587779884
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2702G>T (p.Cys901Phe) rs758311406
NM_000057.4(BLM):c.2705A>G (p.Asp902Gly)
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn) rs777584683
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) rs1596252085
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn) rs2151179756
NM_000057.4(BLM):c.2718C>A (p.Asp906Glu)
NM_000057.4(BLM):c.2719A>G (p.Thr907Ala) rs2151179767
NM_000057.4(BLM):c.271A>G (p.Lys91Glu)
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu) rs1456964727
NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del)
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro) rs770627241
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr) rs1567053290
NM_000057.4(BLM):c.2732A>T (p.Asp911Val) rs1596252149
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu) rs2151179803
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr) rs1896709530
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
NM_000057.4(BLM):c.2746C>G (p.Leu916Val) rs1424143421
NM_000057.4(BLM):c.2755C>A (p.His919Asn) rs1284859576
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly)
NM_000057.4(BLM):c.2762G>T (p.Gly921Val)
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn) rs1219485932
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr) rs1219485932
NM_000057.4(BLM):c.2769T>A (p.Ser923Arg)
NM_000057.4(BLM):c.2773T>G (p.Ser925Ala) rs1896710618
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr) rs2151179877
NM_000057.4(BLM):c.2774C>T (p.Ser925Phe)
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser) rs1896710799
NM_000057.4(BLM):c.2779A>G (p.Arg927Gly) rs1896710903
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
NM_000057.4(BLM):c.2780G>C (p.Arg927Thr)
NM_000057.4(BLM):c.2782G>T (p.Asp928Tyr)
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly) rs1896711135
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp) rs764679551
NM_000057.4(BLM):c.2789T>G (p.Val930Gly) rs2151179915
NM_000057.4(BLM):c.278C>A (p.Ala93Asp) rs2151147003
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg) rs1178355159
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu)
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys) rs2151179931
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu)
NM_000057.4(BLM):c.2823G>A (p.Gln941=)
NM_000057.4(BLM):c.2824-3C>T rs2151184427
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2824G>C (p.Val942Leu)
NM_000057.4(BLM):c.2825T>C (p.Val942Ala)
NM_000057.4(BLM):c.2829C>G (p.Ile943Met) rs1596257034
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr) rs1896880211
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
NM_000057.4(BLM):c.2837C>A (p.Thr946Lys) rs2151184440
NM_000057.4(BLM):c.2837C>T (p.Thr946Ile) rs2151184440
NM_000057.4(BLM):c.283G>A (p.Ala95Thr) rs1432459834
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu) rs1156545383
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu)
NM_000057.4(BLM):c.284C>A (p.Ala95Glu) rs751028188
NM_000057.4(BLM):c.284C>T (p.Ala95Val) rs751028188
NM_000057.4(BLM):c.2853G>C (p.Met951Ile)
NM_000057.4(BLM):c.2853G>T (p.Met951Ile) rs1896881384
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.4(BLM):c.2875C>A (p.Arg959=) rs762354041
NM_000057.4(BLM):c.2881G>A (p.Val961Met)
NM_000057.4(BLM):c.2881G>T (p.Val961Leu) rs1060500639
NM_000057.4(BLM):c.2882T>C (p.Val961Ala) rs1567056582
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe) rs1896883323
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
NM_000057.4(BLM):c.2887C>T (p.His963Tyr) rs367543023
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr)
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr) rs1349078237
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
NM_000057.4(BLM):c.2900C>A (p.Pro967His) rs2151184560
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg)
NM_000057.4(BLM):c.2905T>A (p.Ser969Thr)
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
NM_000057.4(BLM):c.2911G>A (p.Glu971Lys) rs2151184569
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn) rs1555423104
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser) rs1051102270
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala) rs912097353
NM_000057.4(BLM):c.292G>A (p.Glu98Lys) rs1895608811
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys) rs944867688
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr) rs1041847799
NM_000057.4(BLM):c.2939C>T (p.Ala980Val)
NM_000057.4(BLM):c.2942G>C (p.Gly981Ala)
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys) rs1281589498
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr) rs1896886181
NM_000057.4(BLM):c.2948A>T (p.Asp983Val) rs1896886266
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp)
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr) rs1060500631
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys) rs1555423111
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe) rs1555423111
NM_000057.4(BLM):c.2962C>T (p.His988Tyr) rs1896886993
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg) rs1555423112
NM_000057.4(BLM):c.2966G>T (p.Cys989Phe)
NM_000057.4(BLM):c.2974T>C (p.Phe992Leu) rs2151184675
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala) rs1060500632
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn) rs142723411
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys) rs779755994
NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe) rs779755994
NM_000057.4(BLM):c.2986C>T (p.His996Tyr)
NM_000057.4(BLM):c.2988T>G (p.His996Gln)
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser) rs1567056730
NM_000057.4(BLM):c.2996C>T (p.Thr999Ile) rs1567056730
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr) rs1596257309
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe) rs778515103
NM_000057.4(BLM):c.3011T>A (p.Leu1004His) rs2151184755
NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle)
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys) rs772671554
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met) rs1567056762
NM_000057.4(BLM):c.3015_3017del (p.Ile1005del) rs2151184770
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys) rs1896890020
NM_000057.4(BLM):c.3020-3T>C rs1896971029
NM_000057.4(BLM):c.3020-4_3020-3del rs1596259793
NM_000057.4(BLM):c.3020-7_3020-5del rs1596259785
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val) rs1896971371
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) rs1459742200
NM_000057.4(BLM):c.3035A>G (p.Asn1012Ser) rs1896971948
NM_000057.4(BLM):c.3038A>G (p.His1013Arg) rs2151187153
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3040C>G (p.His1014Asp) rs1896972234
NM_000057.4(BLM):c.3043A>G (p.Thr1015Ala) rs1896972529
NM_000057.4(BLM):c.3044C>A (p.Thr1015Lys)
NM_000057.4(BLM):c.3046A>G (p.Arg1016Gly) rs1596259855
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr) rs2151187181
NM_000057.4(BLM):c.3049G>C (p.Glu1017Gln)
NM_000057.4(BLM):c.304G>A (p.Gly102Ser) rs1215126785
NM_000057.4(BLM):c.3050A>G (p.Glu1017Gly) rs2151187186
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala) rs1896972868
NM_000057.4(BLM):c.3055C>G (p.His1019Asp)
NM_000057.4(BLM):c.3056A>C (p.His1019Pro) rs769982824
NM_000057.4(BLM):c.305G>A (p.Gly102Asp) rs1186813751
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp) rs374105075
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile) rs369629509
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) rs1567058281
NM_000057.4(BLM):c.3078G>A (p.Met1026Ile) rs2151187237
NM_000057.4(BLM):c.3078G>T (p.Met1026Ile) rs2151187237
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala) rs373868675
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) rs1487267563
NM_000057.4(BLM):c.3083A>T (p.His1028Leu)
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly) rs1896974604
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys) rs1396000294
NM_000057.4(BLM):c.3092A>G (p.Glu1031Gly) rs2151187263
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr) rs1311585637
NM_000057.4(BLM):c.3101C>A (p.Thr1034Lys) rs753652339
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) rs753652339
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser)
NM_000057.4(BLM):c.3109A>G (p.Arg1037Gly) rs2151187299
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.3114A>C (p.Arg1038Ser) rs1896976226
NM_000057.4(BLM):c.3116T>A (p.Ile1039Lys) rs1896976347
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe) rs1224723855
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val) rs2229035
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser)
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg) rs373241803
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser)
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu) rs2151187363
NM_000057.4(BLM):c.3148T>C (p.Phe1050Leu) rs2151187365
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys) rs1262516507
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr) rs1596260044
NM_000057.4(BLM):c.3154C>T (p.Pro1052Ser)
NM_000057.4(BLM):c.3157G>A (p.Asp1053Asn)
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val) rs2151187383
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr) rs2151187434
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe)
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3190G>A (p.Asp1064Asn) rs1896979510
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3199T>C (p.Cys1067Arg) rs1896980012
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.3210+3A>G
NM_000057.4(BLM):c.3210+3A>T rs2151187459
NM_000057.4(BLM):c.3211-3T>C rs1897074828
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly) rs1897075069
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe)
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg) rs144021705
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys) rs749559270
NM_000057.4(BLM):c.3227A>T (p.Asp1076Val) rs1897075823
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu) rs2151190260
NM_000057.4(BLM):c.3229G>T (p.Val1077Leu) rs779096973
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser) rs1897076116
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn) rs771767745
NM_000057.4(BLM):c.3238G>C (p.Asp1080His) rs771767745
NM_000057.4(BLM):c.3239A>C (p.Asp1080Ala) rs775383361
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val) rs775383361
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly) rs762716289
NM_000057.4(BLM):c.3247A>C (p.Ser1083Arg) rs2151190310
NM_000057.4(BLM):c.324G>T (p.Leu108Phe) rs1198433222
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu) rs761235042
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly) rs2151190324
NM_000057.4(BLM):c.3259T>C (p.Phe1087Leu)
NM_000057.4(BLM):c.325C>T (p.Pro109Ser)
NM_000057.4(BLM):c.3260T>G (p.Phe1087Cys)
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile) rs934966838
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu) rs934966838
NM_000057.4(BLM):c.3262G>T (p.Val1088Phe) rs934966838
NM_000057.4(BLM):c.3263T>C (p.Val1088Ala)
NM_000057.4(BLM):c.3265C>G (p.Gln1089Glu) rs1406087403
NM_000057.4(BLM):c.326C>G (p.Pro109Arg) rs1555418317
NM_000057.4(BLM):c.3271C>A (p.His1091Asn) rs766959096
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.4(BLM):c.3281C>T (p.Ser1094Leu) rs1472603091
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.4(BLM):c.3287G>A (p.Gly1096Glu) rs893352310
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala) rs893352310
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.4(BLM):c.328G>C (p.Asp110His)
NM_000057.4(BLM):c.328G>T (p.Asp110Tyr)
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys) rs1596263307
NM_000057.4(BLM):c.3298A>C (p.Ile1100Leu) rs1897079693
NM_000057.4(BLM):c.3299T>C (p.Ile1100Thr)
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
NM_000057.4(BLM):c.3317C>T (p.Ser1106Phe) rs769834593
NM_000057.4(BLM):c.3320G>A (p.Gly1107Glu)
NM_000057.4(BLM):c.3324A>G (p.Arg1108=) rs1596263375
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser) rs1596263375
NM_000057.4(BLM):c.332T>C (p.Phe111Ser)
NM_000057.4(BLM):c.3332T>C (p.Met1111Thr)
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp) rs1352520577
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser) rs1897081867
NM_000057.4(BLM):c.3336T>A (p.Asn1112Lys)
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
NM_000057.4(BLM):c.3346G>C (p.Asp1116His) rs936749145
NM_000057.4(BLM):c.3347A>T (p.Asp1116Val)
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val) rs2151190485
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe)
NM_000057.4(BLM):c.3358+4A>G rs1897083090
NM_000057.4(BLM):c.3358+5G>C rs2151190518
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-3C>G rs765552044
NM_000057.4(BLM):c.335T>C (p.Leu112Ser) rs1038386076
NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn)
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr) rs758753168
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile) rs758753168
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr) rs1175406197
NM_000057.4(BLM):c.3367A>C (p.Ser1123Arg) rs1897212324
NM_000057.4(BLM):c.3367A>T (p.Ser1123Cys) rs1897212324
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val) rs751765688
NM_000057.4(BLM):c.3381G>T (p.Gln1127His) rs1596267417
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu) rs1596267423
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg) rs781287681
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp) rs375841213
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val) rs375841213
NM_000057.4(BLM):c.3388A>C (p.Ile1130Leu)
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val) rs1897213239
NM_000057.4(BLM):c.3388A>T (p.Ile1130Leu)
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
NM_000057.4(BLM):c.338A>G (p.Gln113Arg) rs2151147149
NM_000057.4(BLM):c.3390A>G (p.Ile1130Met)
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
NM_000057.4(BLM):c.3399A>C (p.Lys1133Asn)
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg) rs1057516774
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu) rs1555424286
NM_000057.4(BLM):c.3404C>A (p.Ser1135Tyr)
NM_000057.4(BLM):c.3406_3407delinsTT (p.Ala1136Phe) rs2151194224
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala)
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3419A>G (p.His1140Arg) rs1897214323
NM_000057.4(BLM):c.3421A>C (p.Asn1141His)
NM_000057.4(BLM):c.3421A>G (p.Asn1141Asp)
NM_000057.4(BLM):c.3430A>G (p.Arg1144Gly)
NM_000057.4(BLM):c.3431G>T (p.Arg1144Ile) rs1897214758
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro) rs1596267524
NM_000057.4(BLM):c.3436T>C (p.Phe1146Leu)
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
NM_000057.4(BLM):c.343C>A (p.Pro115Thr) rs1173491187
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu) rs1596267545
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr) rs1897215421
NM_000057.4(BLM):c.344C>A (p.Pro115Gln)
NM_000057.4(BLM):c.3452T>G (p.Leu1151Arg) rs1897215897
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu) rs1897216087
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu) rs1897216087
NM_000057.4(BLM):c.3457A>G (p.Lys1153Glu) rs1897216200
NM_000057.4(BLM):c.3458A>T (p.Lys1153Met) rs1897216390
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val) rs2151194288
NM_000057.4(BLM):c.3467A>T (p.Asp1156Val) rs2151194299
NM_000057.4(BLM):c.3468T>A (p.Asp1156Glu) rs1325465971
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn) rs1567062737
NM_000057.4(BLM):c.3472G>C (p.Asp1158His) rs1567062737
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn) rs752389778
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val) rs1897217586
NM_000057.4(BLM):c.3486T>G (p.Asn1162Lys)
NM_000057.4(BLM):c.348G>C (p.Lys116Asn) rs749535664
NM_000057.4(BLM):c.3490A>G (p.Asn1164Asp) rs1897217918
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu) rs1596267627
NM_000057.4(BLM):c.3497A>G (p.Gln1166Arg)
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) rs371774802
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly) rs987150263
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe)
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr) rs1897218823
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe) rs746692894
NM_000057.4(BLM):c.3511G>A (p.Val1171Met) rs770585247
NM_000057.4(BLM):c.3512T>G (p.Val1171Gly)
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu) rs745380387
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg) rs776156059
NM_000057.4(BLM):c.3521G>A (p.Gly1174Glu)
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser) rs1596267710
NM_000057.4(BLM):c.3529G>A (p.Ala1177Thr) rs1897220102
NM_000057.4(BLM):c.352G>A (p.Val118Ile)
NM_000057.4(BLM):c.3530C>T (p.Ala1177Val)
NM_000057.4(BLM):c.3533A>C (p.Gln1178Pro) rs1897220395
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala) rs1344786638
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser) rs767771169
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala)
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp) rs1463025227
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr) rs1463025227
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser) rs1596267777
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg) rs1897221872
NM_000057.4(BLM):c.3558+5A>G
NM_000057.4(BLM):c.3558+6G>A rs2151194465
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu) rs547814390
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala)
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly) rs899745787
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro)
NM_000057.4(BLM):c.3580A>G (p.Asn1194Asp)
NM_000057.4(BLM):c.3582T>A (p.Asn1194Lys)
NM_000057.4(BLM):c.3584C>G (p.Ser1195Cys)
NM_000057.4(BLM):c.3586A>C (p.Ser1196Arg)
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys) rs1596268133
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del)
NM_000057.4(BLM):c.3604A>G (p.Lys1202Glu) rs1897233454
NM_000057.4(BLM):c.3606A>C (p.Lys1202Asn) rs1897233523
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly) rs757088548
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser)
NM_000057.4(BLM):c.3613G>C (p.Val1205Leu) rs28385141
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr) rs1897234089
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu) rs1319362226
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
NM_000057.4(BLM):c.3622G>A (p.Val1208Met)
NM_000057.4(BLM):c.362C>G (p.Thr121Ser) rs1567035318
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln) rs1897234496
NM_000057.4(BLM):c.3640A>T (p.Met1214Leu) rs2151194887
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr) rs1596268211
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe)
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr) rs748798772
NM_000057.4(BLM):c.3647A>G (p.Lys1216Arg)
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg) rs1567063212
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu)
NM_000057.4(BLM):c.3659G>C (p.Gly1220Ala) rs1897235538
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys) rs772506214
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg) rs772506214
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile) rs772506214
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala) rs1596268259
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr) rs1897236482
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys) rs1897236482
NM_000057.4(BLM):c.3683C>T (p.Ser1228Phe)
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile) rs1897236925
NM_000057.4(BLM):c.369A>G (p.Gln123=) rs1895612419
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
NM_000057.4(BLM):c.3707A>G (p.His1236Arg)
NM_000057.4(BLM):c.370A>C (p.Asn124His) rs2151147208
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile) rs1249106324
NM_000057.4(BLM):c.3730G>T (p.Val1244Phe) rs1249106324
NM_000057.4(BLM):c.3731T>C (p.Val1244Ala) rs771117920
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser) rs1555424403
NM_000057.4(BLM):c.373A>G (p.Thr125Ala) rs1895612811
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg)
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn)
NM_000057.4(BLM):c.3748G>A (p.Ala1250Thr)
NM_000057.4(BLM):c.3749C>G (p.Ala1250Gly)
NM_000057.4(BLM):c.3750A>G (p.Ala1250=) rs2151195022
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+3G>A
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys) rs587779888
NM_000057.4(BLM):c.3752-3C>T
NM_000057.4(BLM):c.3752-7T>G rs1897346976
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val) rs1249288071
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser) rs2151198266
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)
NM_000057.4(BLM):c.3764C>G (p.Ser1255Cys) rs1897347737
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe) rs1897347737
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala) rs144964365
NM_000057.4(BLM):c.376C>G (p.Pro126Ala) rs587778106
NM_000057.4(BLM):c.376C>T (p.Pro126Ser) rs587778106
NM_000057.4(BLM):c.3774G>C (p.Glu1258Asp) rs1596271783
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile) rs1897348236
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val) rs2151198289
NM_000057.4(BLM):c.377C>G (p.Pro126Arg) rs1060500650
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe) rs1567065644
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg)
NM_000057.4(BLM):c.3786A>G (p.Gln1262=) rs1567065650
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) rs528474170
NM_000057.4(BLM):c.379A>T (p.Thr127Ser)
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val) rs1897348799
NM_000057.4(BLM):c.380C>T (p.Thr127Ile) rs1895613545
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr) rs1567065690
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.382G>A (p.Val128Ile) rs1269873284
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile) rs1018540956
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu)
NM_000057.4(BLM):c.3856T>C (p.Ser1286Pro) rs1897350617
NM_000057.4(BLM):c.3856T>G (p.Ser1286Ala)
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
NM_000057.4(BLM):c.3857C>G (p.Ser1286Cys) rs1423327905
NM_000057.4(BLM):c.3859G>C (p.Glu1287Gln)
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg) rs1897350898
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr) rs1234718913
NM_000057.4(BLM):c.3875-5T>C rs1596273395
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.387G>T (p.Lys129Asn) rs2151147257
NM_000057.4(BLM):c.3880G>A (p.Asp1294Asn) rs560132774
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr) rs560132774
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe) rs2151199713
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met) rs1596273455
NM_000057.4(BLM):c.3899G>A (p.Ser1300Asn) rs1897407938
NM_000057.4(BLM):c.3899G>C (p.Ser1300Thr)
NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg) rs769564626
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe) rs1897408433
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg) rs1897408551
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp) rs2151199760
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala)
NM_000057.4(BLM):c.3928A>C (p.Ser1310Arg)
NM_000057.4(BLM):c.392C>T (p.Ser131Phe)
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3935C>T (p.Ala1312Val) rs2151199800
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala) rs754033839
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe) rs959925706
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro) rs1567066844
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) rs779179608
NM_000057.4(BLM):c.3946G>C (p.Asp1316His) rs779179608
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.3952G>A (p.Glu1318Lys)
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly) rs2151199835
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr) rs1596273579
NM_000057.4(BLM):c.3958C>T (p.Pro1320Ser)
NM_000057.4(BLM):c.3959C>A (p.Pro1320His) rs2151199849
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) rs7167216
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu)
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe) rs1362006078
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser) rs2151199875
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr) rs762621627
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn)
NM_000057.4(BLM):c.398A>G (p.Asp133Gly) rs1895614433
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.4(BLM):c.3992G>C (p.Arg1331Thr)
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
NM_000057.4(BLM):c.3995A>T (p.Asn1332Ile)
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly) rs1897414526
NM_000057.4(BLM):c.4009A>G (p.Lys1337Glu) rs2151199902
NM_000057.4(BLM):c.4014G>C (p.Lys1338Asn)
NM_000057.4(BLM):c.4016T>G (p.Met1339Arg) rs761320085
NM_000057.4(BLM):c.4017G>A (p.Met1339Ile)
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser) rs1596273669
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu)
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg) rs2151199942
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg) rs1596273706
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly) rs1596273711
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.403G>A (p.Ala135Thr)
NM_000057.4(BLM):c.403G>C (p.Ala135Pro) rs373832397
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser)
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)
NM_000057.4(BLM):c.4058G>A (p.Ser1353Asn) rs1897417072
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del) rs2151200003
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp) rs891751726
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val) rs891751726
NM_000057.4(BLM):c.4064C>T (p.Ser1355Phe)
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn) rs587779890
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro) rs587778103
NM_000057.4(BLM):c.406C>T (p.Leu136Phe)
NM_000057.4(BLM):c.4076+1G>C rs752899566
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4076+1del rs763072825
NM_000057.4(BLM):c.4076+4T>A
NM_000057.4(BLM):c.4076+4T>C rs183176301
NM_000057.4(BLM):c.4076+6T>A
NM_000057.4(BLM):c.4077-2del
NM_000057.4(BLM):c.4077-8C>G
NM_000057.4(BLM):c.4078G>A (p.Gly1360Arg) rs1897524090
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu) rs1258712808
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro)
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly) rs2151202232
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg) rs1596276396
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
NM_000057.4(BLM):c.40G>A (p.Glu14Lys)
NM_000057.4(BLM):c.4101A>G (p.Ile1367Met) rs1897525152
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr)
NM_000057.4(BLM):c.411_413del (p.Lys138del) rs1895614861
NM_000057.4(BLM):c.4121C>T (p.Ser1374Phe) rs1897526347
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly) rs1897526575
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn) rs139115275
NM_000057.4(BLM):c.4124G>T (p.Ser1375Ile)
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4136C>T (p.Ser1379Phe)
NM_000057.4(BLM):c.4138A>G (p.Ser1380Gly)
NM_000057.4(BLM):c.4139G>A (p.Ser1380Asn) rs2151202301
NM_000057.4(BLM):c.413A>G (p.Lys138Arg) rs1895615140
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu) rs1277229461
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
NM_000057.4(BLM):c.4150C>T (p.His1384Tyr)
NM_000057.4(BLM):c.4151A>T (p.His1384Leu)
NM_000057.4(BLM):c.4152T>A (p.His1384Gln) rs1897528380
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala) rs1382270916
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile) rs1596276510
NM_000057.4(BLM):c.4162G>A (p.Ala1388Thr) rs1567068979
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro) rs1567068979
NM_000057.4(BLM):c.4163C>G (p.Ala1388Gly) rs1567068992
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val) rs1567068992
NM_000057.4(BLM):c.416T>C (p.Leu139Ser) rs1596218397
NM_000057.4(BLM):c.4171G>A (p.Gly1391Arg) rs2151202363
NM_000057.4(BLM):c.4172G>A (p.Gly1391Glu)
NM_000057.4(BLM):c.4175C>G (p.Ala1392Gly) rs1397394866
NM_000057.4(BLM):c.4177A>C (p.Asn1393His)
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser) rs1897529855
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn) rs2151202380
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr) rs2151202391
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser) rs1567069054
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu)
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer) rs1567069065
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr) rs557057587
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser) rs1567069076
NM_000057.4(BLM):c.4222C>T (p.Pro1408Ser)
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg) rs1022266595
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu) rs1022266595
NM_000057.4(BLM):c.4225T>C (p.Phe1409Leu)
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe) rs1897532582
NM_000057.4(BLM):c.4229T>G (p.Leu1410Arg) rs2151202442
NM_000057.4(BLM):c.4230_4231insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACACCGTCTCCACCAAAAAAATAAATAGACCGTTTCTT (p.Leu1410_Lys1411insPhePhePhePhePhePheXaaXaaXaaXaaAlaProArgGluAlaGluAlaGlyArgSerLeuAlaValArgSerTrpArgProAlaArgProThrGlnArgAsnThrValSerThrLysLysIleAsnArgProPheLeu)
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter) rs2151202445
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg) rs1897532698
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met) rs1897532698
NM_000057.4(BLM):c.4234C>A (p.Pro1412Thr) rs1249221595
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala) rs1249221595
NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser)
NM_000057.4(BLM):c.4235C>T (p.Pro1412Leu)
NM_000057.4(BLM):c.4237del (p.Ser1413fs) rs1454179023
NM_000057.4(BLM):c.4239A>G (p.Ser1413=) rs1897533354
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) rs1567069125
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr) rs1488217859
NM_000057.4(BLM):c.430T>A (p.Ser144Thr)
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) rs1596218439
NM_000057.4(BLM):c.433C>G (p.Pro145Ala) rs1555418335
NM_000057.4(BLM):c.434C>A (p.Pro145Gln) rs1895616094
NM_000057.4(BLM):c.434C>G (p.Pro145Arg) rs1895616094
NM_000057.4(BLM):c.436G>C (p.Asp146His) rs1895616204
NM_000057.4(BLM):c.437A>C (p.Asp146Ala) rs902876126
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
NM_000057.4(BLM):c.43C>A (p.Arg15Ser) rs148545569
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
NM_000057.4(BLM):c.446G>C (p.Ser149Thr)
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) rs1567035400
NM_000057.4(BLM):c.449C>T (p.Thr150Ile)
NM_000057.4(BLM):c.452T>A (p.Ile151Asn) rs2151147375
NM_000057.4(BLM):c.454A>G (p.Asn152Asp) rs2151147384
NM_000057.4(BLM):c.460T>C (p.Trp154Arg) rs1226287991
NM_000057.4(BLM):c.462G>C (p.Trp154Cys) rs2151147399
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr) rs2151147403
NM_000057.4(BLM):c.469A>G (p.Met157Val) rs2151147416
NM_000057.4(BLM):c.46C>G (p.His16Asp) rs1895533888
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
NM_000057.4(BLM):c.470T>G (p.Met157Arg) rs773103759
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.485C>T (p.Thr162Ile) rs1596218602
NM_000057.4(BLM):c.489T>A (p.Ser163=) rs781044650
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.491A>C (p.Glu164Ala) rs1555418365
NM_000057.4(BLM):c.492G>C (p.Glu164Asp)
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
NM_000057.4(BLM):c.497C>T (p.Ser166Leu) rs896357448
NM_000057.4(BLM):c.4G>T (p.Ala2Ser) rs199769364
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr) rs1013299710
NM_000057.4(BLM):c.507T>G (p.Phe169Leu)
NM_000057.4(BLM):c.50C>T (p.Ser17Leu) rs2151145042
NM_000057.4(BLM):c.511A>G (p.Thr171Ala) rs1895622104
NM_000057.4(BLM):c.512C>T (p.Thr171Ile)
NM_000057.4(BLM):c.514C>G (p.Pro172Ala) rs1163233988
NM_000057.4(BLM):c.514C>T (p.Pro172Ser)
NM_000057.4(BLM):c.517C>A (p.Pro173Thr) rs1458936595
NM_000057.4(BLM):c.517C>T (p.Pro173Ser)
NM_000057.4(BLM):c.518C>A (p.Pro173His) rs762713320
NM_000057.4(BLM):c.518C>G (p.Pro173Arg) rs762713320
NM_000057.4(BLM):c.521A>G (p.Gln174Arg) rs1895622909
NM_000057.4(BLM):c.524G>A (p.Ser175Asn) rs2151147521
NM_000057.4(BLM):c.527A>C (p.His176Pro)
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.53C>T (p.Ala18Val)
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.544A>G (p.Thr182Ala) rs1060500643
NM_000057.4(BLM):c.545C>T (p.Thr182Ile) rs749838731
NM_000057.4(BLM):c.550C>G (p.Gln184Glu)
NM_000057.4(BLM):c.556T>C (p.Ser186Pro) rs1253019128
NM_000057.4(BLM):c.559A>C (p.Lys187Gln)
NM_000057.4(BLM):c.559A>G (p.Lys187Glu) rs1895625606
NM_000057.4(BLM):c.561A>C (p.Lys187Asn) rs2151147608
NM_000057.4(BLM):c.563A>G (p.Lys188Arg) rs907949967
NM_000057.4(BLM):c.564G>C (p.Lys188Asn) rs1596218841
NM_000057.4(BLM):c.565G>A (p.Gly189Ser) rs1180631656
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
NM_000057.4(BLM):c.568A>G (p.Lys190Glu) rs1895626152
NM_000057.4(BLM):c.56G>A (p.Arg19Lys) rs2151145055
NM_000057.4(BLM):c.570G>T (p.Lys190Asn) rs2151147630
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr) rs2151147636
NM_000057.4(BLM):c.578T>G (p.Phe193Cys)
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.4(BLM):c.582T>A (p.Phe194Leu) rs1895626638
NM_000057.4(BLM):c.586G>A (p.Ala196Thr) rs1567035597
NM_000057.4(BLM):c.586G>C (p.Ala196Pro)
NM_000057.4(BLM):c.587C>A (p.Ala196Glu) rs1895626846
NM_000057.4(BLM):c.592C>G (p.Leu198Val) rs1346738369
NM_000057.4(BLM):c.598A>G (p.Thr200Ala) rs1895627174
NM_000057.4(BLM):c.598A>T (p.Thr200Ser) rs1895627174
NM_000057.4(BLM):c.601A>G (p.Thr201Ala) rs1895627520
NM_000057.4(BLM):c.604A>C (p.Asn202His)
NM_000057.4(BLM):c.605A>T (p.Asn202Ile) rs1596218921
NM_000057.4(BLM):c.608C>G (p.Thr203Arg)
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)
NM_000057.4(BLM):c.613A>G (p.Lys205Glu)
NM_000057.4(BLM):c.614A>G (p.Lys205Arg) rs1895628645
NM_000057.4(BLM):c.615G>C (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.615G>T (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.617C>A (p.Thr206Asn)
NM_000057.4(BLM):c.617C>T (p.Thr206Ile)
NM_000057.4(BLM):c.620A>T (p.Asp207Val) rs1895629239
NM_000057.4(BLM):c.623T>G (p.Leu208Trp) rs1555418411
NM_000057.4(BLM):c.624G>T (p.Leu208Phe)
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del) rs760096957
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) rs56218710
NM_000057.4(BLM):c.64A>G (p.Asn22Asp) rs1370338581
NM_000057.4(BLM):c.650A>C (p.Gln217Pro) rs1895630967
NM_000057.4(BLM):c.651A>C (p.Gln217His) rs1258361408
NM_000057.4(BLM):c.653T>C (p.Ile218Thr)
NM_000057.4(BLM):c.655G>C (p.Asp219His) rs190228320
NM_000057.4(BLM):c.656A>C (p.Asp219Ala) rs1246909789
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
NM_000057.4(BLM):c.658T>A (p.Leu220Met)
NM_000057.4(BLM):c.661A>T (p.Thr221Ser) rs1895631812
NM_000057.4(BLM):c.662C>A (p.Thr221Asn) rs1407804704
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
NM_000057.4(BLM):c.667G>A (p.Glu223Lys) rs761533210
NM_000057.4(BLM):c.668A>G (p.Glu223Gly) rs1895632421
NM_000057.4(BLM):c.672G>C (p.Gln224His) rs1596219135
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr) rs2151147916
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.679G>A (p.Asp227Asn) rs1555418427
NM_000057.4(BLM):c.685G>A (p.Glu229Lys) rs1555418428
NM_000057.4(BLM):c.685G>C (p.Glu229Gln) rs1555418428
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
NM_000057.4(BLM):c.690G>T (p.Trp230Cys) rs1895633501
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
NM_000057.4(BLM):c.701A>T (p.Asp234Val) rs1895634297
NM_000057.4(BLM):c.702T>G (p.Asp234Glu) rs1271054585
NM_000057.4(BLM):c.703G>A (p.Val235Met) rs765696829
NM_000057.4(BLM):c.706A>C (p.Ile236Leu) rs2151148002
NM_000057.4(BLM):c.707T>C (p.Ile236Thr) rs1895634770
NM_000057.4(BLM):c.713T>C (p.Ile238Thr) rs1895635327
NM_000057.4(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.4(BLM):c.716A>C (p.Asp239Ala)
NM_000057.4(BLM):c.716A>T (p.Asp239Val) rs751699247
NM_000057.4(BLM):c.719A>G (p.Asp240Gly) rs757324067
NM_000057.4(BLM):c.719A>T (p.Asp240Val) rs757324067
NM_000057.4(BLM):c.722G>C (p.Gly241Ala)
NM_000057.4(BLM):c.728T>C (p.Ile243Thr) rs200000438
NM_000057.4(BLM):c.731C>T (p.Ala244Val)
NM_000057.4(BLM):c.733G>A (p.Glu245Lys) rs772711706
NM_000057.4(BLM):c.734A>T (p.Glu245Val)
NM_000057.4(BLM):c.736G>C (p.Val246Leu) rs1895637254
NM_000057.4(BLM):c.739C>T (p.His247Tyr)
NM_000057.4(BLM):c.742A>G (p.Ile248Val) rs558524280
NM_000057.4(BLM):c.742A>T (p.Ile248Leu) rs558524280
NM_000057.4(BLM):c.743T>C (p.Ile248Thr)
NM_000057.4(BLM):c.745A>G (p.Asn249Asp)
NM_000057.4(BLM):c.74T>C (p.Leu25Ser) rs1895534883
NM_000057.4(BLM):c.752A>G (p.Asp251Gly) rs1555418456
NM_000057.4(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.4(BLM):c.754G>A (p.Ala252Thr) rs1895638377
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
NM_000057.4(BLM):c.760G>C (p.Glu254Gln) rs181892828
NM_000057.4(BLM):c.764G>C (p.Ser255Thr)
NM_000057.4(BLM):c.768C>A (p.Asp256Glu)
NM_000057.4(BLM):c.772C>A (p.Leu258Met) rs1895639952
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
NM_000057.4(BLM):c.779C>A (p.Thr260Asn) rs2151148184
NM_000057.4(BLM):c.781C>T (p.His261Tyr) rs1895640326
NM_000057.4(BLM):c.782A>G (p.His261Arg) rs763166861
NM_000057.4(BLM):c.793G>C (p.Glu265Gln) rs751718191
NM_000057.4(BLM):c.794A>G (p.Glu265Gly) rs907073579
NM_000057.4(BLM):c.796A>G (p.Arg266Gly) rs1895641246
NM_000057.4(BLM):c.799+4A>C rs1895641639
NM_000057.4(BLM):c.799+4_799+5delinsCA rs1895641733
NM_000057.4(BLM):c.799+5C>A
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
NM_000057.4(BLM):c.7G>A (p.Ala3Thr) rs1895531822
NM_000057.4(BLM):c.800-13T>A
NM_000057.4(BLM):c.800-6C>A rs2151149470
NM_000057.4(BLM):c.806G>A (p.Ser269Asn) rs2151149490
NM_000057.4(BLM):c.809A>G (p.Glu270Gly) rs1895690744
NM_000057.4(BLM):c.811A>G (p.Lys271Glu) rs1895690937
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.813GAA[4] (p.Lys273dup) rs587779895
NM_000057.4(BLM):c.815A>G (p.Lys272Arg) rs2151149524
NM_000057.4(BLM):c.819G>T (p.Lys273Asn) rs2151149532
NM_000057.4(BLM):c.827A>G (p.Glu276Gly) rs2151149556
NM_000057.4(BLM):c.833C>T (p.Ala278Val) rs1895692100
NM_000057.4(BLM):c.841C>A (p.His281Asn)
NM_000057.4(BLM):c.841C>T (p.His281Tyr)
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.843T>G (p.His281Gln) rs1567036601
NM_000057.4(BLM):c.848C>G (p.Thr283Ser) rs1567036612
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
NM_000057.4(BLM):c.856G>A (p.Val286Ile)
NM_000057.4(BLM):c.856G>T (p.Val286Phe) rs758301305
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
NM_000057.4(BLM):c.859C>A (p.Pro287Thr) rs746748670
NM_000057.4(BLM):c.862T>A (p.Cys288Ser) rs2151149624
NM_000057.4(BLM):c.862T>G (p.Cys288Gly)
NM_000057.4(BLM):c.863G>C (p.Cys288Ser) rs1260150929
NM_000057.4(BLM):c.865A>G (p.Ile289Val) rs1895693953
NM_000057.4(BLM):c.86A>G (p.Lys29Arg) rs1895535585
NM_000057.4(BLM):c.874G>C (p.Asp292His)
NM_000057.4(BLM):c.874GAT[3] (p.Asp295del) rs1208432656
NM_000057.4(BLM):c.874GAT[5] (p.Asp295dup) rs1208432656
NM_000057.4(BLM):c.881A>G (p.Asp294Gly) rs1895694767
NM_000057.4(BLM):c.883G>A (p.Asp295Asn) rs146096923
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr) rs146096923
NM_000057.4(BLM):c.885T>A (p.Asp295Glu) rs2151149661
NM_000057.4(BLM):c.886T>C (p.Tyr296His) rs1596221177
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys) rs775005766
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe) rs775005766
NM_000057.4(BLM):c.889G>T (p.Asp297Tyr)
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
NM_000057.4(BLM):c.905C>T (p.Pro302Leu) rs1895696337
NM_000057.4(BLM):c.907C>T (p.Pro303Ser)
NM_000057.4(BLM):c.910T>G (p.Ser304Ala) rs2151149729
NM_000057.4(BLM):c.913C>T (p.Pro305Ser) rs1895696721
NM_000057.4(BLM):c.917A>G (p.Glu306Gly) rs2151149738
NM_000057.4(BLM):c.922A>G (p.Ile308Val) rs1596221274
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
NM_000057.4(BLM):c.926T>C (p.Ile309Thr) rs1895697384
NM_000057.4(BLM):c.932C>T (p.Ala311Val)
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del) rs564966225
NM_000057.4(BLM):c.934T>A (p.Ser312Thr) rs372454889
NM_000057.4(BLM):c.941C>T (p.Ser314Phe)
NM_000057.4(BLM):c.943T>G (p.Ser315Ala)
NM_000057.4(BLM):c.944C>T (p.Ser315Phe) rs1895698325
NM_000057.4(BLM):c.952T>C (p.Cys318Arg)
NM_000057.4(BLM):c.953G>A (p.Cys318Tyr)
NM_000057.4(BLM):c.954C>G (p.Cys318Trp) rs1596221322
NM_000057.4(BLM):c.955C>T (p.Leu319Phe) rs1567036793
NM_000057.4(BLM):c.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
NM_000057.4(BLM):c.967A>C (p.Lys323Gln) rs2151152050
NM_000057.4(BLM):c.972C>A (p.Asp324Glu)
NM_000057.4(BLM):c.976G>A (p.Asp326Asn) rs1013220474
NM_000057.4(BLM):c.976G>T (p.Asp326Tyr)
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
NM_000057.4(BLM):c.98+2_98+3insCT
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000057.4(BLM):c.980C>A (p.Thr327Asn) rs748581308
NM_000057.4(BLM):c.980C>G (p.Thr327Ser) rs748581308
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)
NM_000057.4(BLM):c.982T>G (p.Ser328Ala) rs2151152087
NM_000057.4(BLM):c.983C>T (p.Ser328Phe) rs2151152099
NM_000057.4(BLM):c.985G>A (p.Asp329Asn) rs1895774818
NM_000057.4(BLM):c.985G>C (p.Asp329His) rs1895774818
NM_000057.4(BLM):c.988A>G (p.Arg330Gly)
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000057.4(BLM):c.991A>G (p.Lys331Glu) rs1596223773
NM_000057.4(BLM):c.994G>C (p.Glu332Gln) rs1596223780
NM_000057.4(BLM):c.995A>T (p.Glu332Val) rs2151152146
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr) rs1567037944
NM_000067.2(CA2):c.-130C>A rs570970117
NM_000067.3(CA2):c.*374A>G rs886063151
NM_000067.3(CA2):c.*465A>C rs886063152
NM_000067.3(CA2):c.*535T>C rs1811887892
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
NM_000067.3(CA2):c.281A>G (p.His94Arg) rs2130558149
NM_000067.3(CA2):c.508-7G>A rs886063149
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) rs1811610973
NM_000070.3(CAPN3):c.*139C>T rs1338589746
NM_000070.3(CAPN3):c.*170G>C rs886051149
NM_000070.3(CAPN3):c.*387C>T rs2054279990
NM_000070.3(CAPN3):c.*436del rs774244796
NM_000070.3(CAPN3):c.*482_*485dup rs780202767
NM_000070.3(CAPN3):c.-96A>T rs2052587591
NM_000070.3(CAPN3):c.1002C>T (p.His334=) rs374833797
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr) rs779526097
NM_000070.3(CAPN3):c.100G>A (p.Ala34Thr) rs772534302
NM_000070.3(CAPN3):c.101C>G (p.Ala34Gly) rs2052593680
NM_000070.3(CAPN3):c.1029+4A>G
NM_000070.3(CAPN3):c.1029+6C>T
NM_000070.3(CAPN3):c.1030-14T>C
NM_000070.3(CAPN3):c.1040A>G (p.Lys347Arg) rs2141180698
NM_000070.3(CAPN3):c.1042G>A (p.Gly348Ser)
NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala) rs2141102293
NM_000070.3(CAPN3):c.1058T>C (p.Leu353Pro)
NM_000070.3(CAPN3):c.107G>C (p.Gly36Ala)
NM_000070.3(CAPN3):c.1082G>A (p.Gly361Asp) rs886043290
NM_000070.3(CAPN3):c.1098C>A (p.Asn366Lys)
NM_000070.3(CAPN3):c.1115+5G>C rs886039597
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1123G>A (p.Asp375Asn)
NM_000070.3(CAPN3):c.1123G>C (p.Asp375His) rs2053707997
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn) rs760121531
NM_000070.3(CAPN3):c.1132T>C (p.Phe378Leu) rs1595831381
NM_000070.3(CAPN3):c.1154C>T (p.Ala385Val) rs934135114
NM_000070.3(CAPN3):c.1163A>G (p.Gln388Arg) rs2141186439
NM_000070.3(CAPN3):c.1183G>A (p.Gly395Arg) rs1595831427
NM_000070.3(CAPN3):c.1192T>C (p.Trp398Arg) rs2053709952
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1195A>G (p.Met399Val)
NM_000070.3(CAPN3):c.1211T>C (p.Phe404Ser) rs2141193571
NM_000070.3(CAPN3):c.1220A>G (p.His407Arg)
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1238T>C (p.Ile413Thr)
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1277T>C (p.Leu426Pro) rs2141193792
NM_000070.3(CAPN3):c.1289C>A (p.Thr430Lys) rs199725329
NM_000070.3(CAPN3):c.1291G>C (p.Val431Leu)
NM_000070.3(CAPN3):c.1293G>A (p.Val431=) rs1009544440
NM_000070.3(CAPN3):c.1301_1304del (p.Asn434fs) rs1566979465
NM_000070.3(CAPN3):c.1305G>C (p.Glu435Asp)
NM_000070.3(CAPN3):c.1310G>T (p.Arg437Leu)
NM_000070.3(CAPN3):c.1314G>C (p.Trp438Cys) rs2053807675
NM_000070.3(CAPN3):c.1322G>A (p.Gly441Asp)
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1334G>A (p.Gly445Glu) rs1555421875
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser) rs886042857
NM_000070.3(CAPN3):c.1344C>T (p.Arg448=)
NM_000070.3(CAPN3):c.1345A>G (p.Asn449Asp) rs886043144
NM_000070.3(CAPN3):c.1352C>T (p.Pro451Leu)
NM_000070.3(CAPN3):c.1354+129T>A
NM_000070.3(CAPN3):c.1354+6A>C
NM_000070.3(CAPN3):c.1354+8A>G rs2053810204
NM_000070.3(CAPN3):c.1354G>C (p.Asp452His) rs727503838
NM_000070.3(CAPN3):c.1355-10G>A rs1388234925
NM_000070.3(CAPN3):c.1355-6G>T rs28364485
NM_000070.3(CAPN3):c.1355A>G (p.Asp452Gly)
NM_000070.3(CAPN3):c.1377G>T (p.Gln459His) rs1555422101
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=) rs760344791
NM_000070.3(CAPN3):c.13A>G (p.Ile5Val) rs1265909242
NM_000070.3(CAPN3):c.1403A>G (p.Asp468Gly) rs2141199495
NM_000070.3(CAPN3):c.1404C>G (p.Asp468Glu) rs534326487
NM_000070.3(CAPN3):c.1419C>G (p.Asp473Glu)
NM_000070.3(CAPN3):c.1442T>C (p.Leu481Pro) rs886043175
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1484T>C (p.Leu495Pro) rs886043921
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile) rs751104396
NM_000070.3(CAPN3):c.1508G>C (p.Gly503Ala)
NM_000070.3(CAPN3):c.1513G>A (p.Ala505Thr) rs1555422133
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu) rs140828326
NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val) rs140828326
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.151T>C (p.Phe51Leu)
NM_000070.3(CAPN3):c.1522G>A (p.Glu508Lys)
NM_000070.3(CAPN3):c.1524+3del rs1566980514
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1537-40C>G rs1172112518
NM_000070.3(CAPN3):c.1542C>A (p.His514Gln) rs377215244
NM_000070.3(CAPN3):c.1562A>C (p.Gln521Pro)
NM_000070.3(CAPN3):c.1582A>G (p.Asn528Asp)
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys) rs530529988
NM_000070.3(CAPN3):c.160A>G (p.Ile54Val) rs2052596155
NM_000070.3(CAPN3):c.1615_1616insTGCGGTTTGCTCCTGGCCTTGCAAAGGCCT (p.Asn539delinsMetArgPheAlaProGlyLeuAlaLysAlaTyr) rs2053912617
NM_000070.3(CAPN3):c.1619T>C (p.Met540Thr)
NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly) rs142004418
NM_000070.3(CAPN3):c.1628T>G (p.Val543Gly)
NM_000070.3(CAPN3):c.1631C>T (p.Ser544Phe)
NM_000070.3(CAPN3):c.1642C>T (p.Arg548Cys)
NM_000070.3(CAPN3):c.1656C>A (p.Ser552Arg)
NM_000070.3(CAPN3):c.1656C>T (p.Ser552=) rs751666282
NM_000070.3(CAPN3):c.1659G>C (p.Glu553Asp)
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu) rs138172448
NM_000070.3(CAPN3):c.1672C>T (p.Pro558Ser)
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
NM_000070.3(CAPN3):c.1684G>A (p.Glu562Lys)
NM_000070.3(CAPN3):c.1714C>G (p.Arg572Gly) rs863224959
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro) rs121434544
NM_000070.3(CAPN3):c.1718T>A (p.Val573Asp)
NM_000070.3(CAPN3):c.1733G>A (p.Arg578Lys)
NM_000070.3(CAPN3):c.1745+3G>C
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu) rs370809015
NM_000070.3(CAPN3):c.1775G>A (p.Arg592Gln)
NM_000070.3(CAPN3):c.1778C>T (p.Pro593Leu)
NM_000070.3(CAPN3):c.1782G>A (p.Val594=)
NM_000070.3(CAPN3):c.1788G>T (p.Lys596Asn)
NM_000070.3(CAPN3):c.1793_1795del (p.Lys598del) rs80338803
NM_000070.3(CAPN3):c.1800+4G>A rs2054007004
NM_000070.3(CAPN3):c.1800G>A (p.Lys600=)
NM_000070.3(CAPN3):c.1807A>G (p.Ile603Val)
NM_000070.3(CAPN3):c.1810_1812del (p.Phe604del) rs2054083117
NM_000070.3(CAPN3):c.1823G>A (p.Arg608Lys)
NM_000070.3(CAPN3):c.1832_1834del (p.Ser611del)
NM_000070.3(CAPN3):c.1833CAA[1] (p.Asn612del) rs1555422829
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=) rs746786954
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=) rs2054086848
NM_000070.3(CAPN3):c.1904A>G (p.Gln635Arg)
NM_000070.3(CAPN3):c.1914G>A (p.Gln638=)
NM_000070.3(CAPN3):c.1915-3C>T
NM_000070.3(CAPN3):c.1922C>T (p.Pro641Leu) rs2054128388
NM_000070.3(CAPN3):c.193C>G (p.His65Asp) rs898013388
NM_000070.3(CAPN3):c.1945G>A (p.Glu649Lys)
NM_000070.3(CAPN3):c.1963C>T (p.Arg655Trp)
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln) rs2052597232
NM_000070.3(CAPN3):c.1979A>G (p.Gln660Arg) rs1555422962
NM_000070.3(CAPN3):c.1982T>A (p.Ile661Lys) rs2141219945
NM_000070.3(CAPN3):c.1982T>C (p.Ile661Thr)
NM_000070.3(CAPN3):c.1984G>C (p.Ala662Pro) rs187054121
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del) rs770529441
NM_000070.3(CAPN3):c.1997T>A (p.Met666Lys)
NM_000070.3(CAPN3):c.1997T>C (p.Met666Thr)
NM_000070.3(CAPN3):c.2008G>A (p.Ala670Thr)
NM_000070.3(CAPN3):c.202T>C (p.Cys68Arg) rs2141102622
NM_000070.3(CAPN3):c.2032A>G (p.Asn678Asp) rs2054149654
NM_000070.3(CAPN3):c.2033A>G (p.Asn678Ser)
NM_000070.3(CAPN3):c.2042T>C (p.Val681Ala) rs750373128
NM_000070.3(CAPN3):c.2068C>G (p.His690Asp) rs2141222124
NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg) rs140425651
NM_000070.3(CAPN3):c.2080C>G (p.Leu694Val) rs2054156832
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.2090G>C (p.Cys697Ser)
NM_000070.3(CAPN3):c.2096G>A (p.Ser699Asn)
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr) rs1008776680
NM_000070.3(CAPN3):c.2115+4T>G rs752436906
NM_000070.3(CAPN3):c.2115+5C>G
NM_000070.3(CAPN3):c.2115T>C (p.Asp705=) rs2054158589
NM_000070.3(CAPN3):c.2116-7C>T
NM_000070.3(CAPN3):c.2116A>G (p.Thr706Ala) rs2054176662
NM_000070.3(CAPN3):c.2117C>G (p.Thr706Arg) rs1335796666
NM_000070.3(CAPN3):c.211A>G (p.Lys71Glu) rs1595794265
NM_000070.3(CAPN3):c.2138A>C (p.Asn713Thr) rs886044264
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=) rs770894443
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2161T>C (p.Trp721Arg)
NM_000070.3(CAPN3):c.2173A>G (p.Lys725Glu) rs759328241
NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val) rs2141223812
NM_000070.3(CAPN3):c.2184+5G>A rs2054181284
NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr) rs2141224186
NM_000070.3(CAPN3):c.2200T>C (p.Tyr734His)
NM_000070.3(CAPN3):c.2206_2211dup (p.Thr736_Asp737dup) rs1555423156
NM_000070.3(CAPN3):c.222T>G (p.Leu74=) rs551850600
NM_000070.3(CAPN3):c.2231G>A (p.Ser744Asn) rs886044480
NM_000070.3(CAPN3):c.2231G>C (p.Ser744Thr) rs886044480
NM_000070.3(CAPN3):c.2236G>C (p.Glu746Gln) rs752155690
NM_000070.3(CAPN3):c.2245A>C (p.Asn749His) rs201012232
NM_000070.3(CAPN3):c.224A>G (p.Tyr75Cys) rs1555417323
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2263+11G>C
NM_000070.3(CAPN3):c.2263+3G>C rs2054188689
NM_000070.3(CAPN3):c.2263+5T>C
NM_000070.3(CAPN3):c.2264-10C>A
NM_000070.3(CAPN3):c.2264-5C>G
NM_000070.3(CAPN3):c.2264-7T>A rs2054199758
NM_000070.3(CAPN3):c.226G>C (p.Val76Leu)
NM_000070.3(CAPN3):c.2271_2282dup (p.His757_Asn760dup) rs1595847810
NM_000070.3(CAPN3):c.2272C>T (p.Leu758Phe)
NM_000070.3(CAPN3):c.2294T>C (p.Ile765Thr)
NM_000070.3(CAPN3):c.2297_2299del (p.Ile766del) rs1555423200
NM_000070.3(CAPN3):c.229G>A (p.Asp77Asn) rs2141102703
NM_000070.3(CAPN3):c.2302A>G (p.Met768Val)
NM_000070.3(CAPN3):c.2306G>C (p.Arg769Pro) rs80338802
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
NM_000070.3(CAPN3):c.2308T>G (p.Tyr770Asp)
NM_000070.3(CAPN3):c.2314G>A (p.Asp772Asn)
NM_000070.3(CAPN3):c.2330T>C (p.Ile777Thr) rs1457098622
NM_000070.3(CAPN3):c.235G>C (p.Glu79Gln) rs1555417328
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys) rs769208910
NM_000070.3(CAPN3):c.2375T>C (p.Met792Thr)
NM_000070.3(CAPN3):c.2387T>C (p.Phe796Ser)
NM_000070.3(CAPN3):c.239T>C (p.Phe80Ser) rs886042800
NM_000070.3(CAPN3):c.240C>G (p.Phe80Leu) rs2052598737
NM_000070.3(CAPN3):c.2416_2417dup (p.Ile807fs) rs1131691320
NM_000070.3(CAPN3):c.2430del (p.Asn810fs)
NM_000070.3(CAPN3):c.2440-15T>A
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.2440-75C>G rs184526584
NM_000070.3(CAPN3):c.2440-8_2440-7insA rs1555423427
NM_000070.3(CAPN3):c.2440T>C (p.Trp814Arg)
NM_000070.3(CAPN3):c.2442G>C (p.Trp814Cys) rs1595850277
NM_000070.3(CAPN3):c.2449C>T (p.Leu817Phe) rs2054258897
NM_000070.3(CAPN3):c.2458T>A (p.Tyr820Asn)
NM_000070.3(CAPN3):c.2462C>T (p.Ala821Val) rs398123148
NM_000070.3(CAPN3):c.25G>C (p.Val9Leu) rs2052590373
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu) rs2052600414
NM_000070.3(CAPN3):c.287A>G (p.Gln96Arg) rs2141102905
NM_000070.3(CAPN3):c.304C>T (p.Pro102Ser) rs2141102957
NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu) rs886042315
NM_000070.3(CAPN3):c.317G>C (p.Cys106Ser)
NM_000070.3(CAPN3):c.323A>G (p.Asn108Ser) rs2053333610
NM_000070.3(CAPN3):c.324T>A (p.Asn108Lys) rs2141155500
NM_000070.3(CAPN3):c.326C>A (p.Pro109His) rs2141155515
NM_000070.3(CAPN3):c.334A>G (p.Ile112Val)
NM_000070.3(CAPN3):c.337A>G (p.Ile113Val) rs2053334758
NM_000070.3(CAPN3):c.349A>G (p.Asn117Asp)
NM_000070.3(CAPN3):c.355A>G (p.Thr119Ala) rs1218735599
NM_000070.3(CAPN3):c.360C>A (p.Asp120Glu) rs886043027
NM_000070.3(CAPN3):c.361A>G (p.Ile121Val)
NM_000070.3(CAPN3):c.379+5G>T rs886042704
NM_000070.3(CAPN3):c.387C>G (p.Cys129Trp) rs1555420308
NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro) rs1555420309
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.412C>G (p.Leu138Val) rs1042151947
NM_000070.3(CAPN3):c.41C>A (p.Ala14Glu)
NM_000070.3(CAPN3):c.433C>T (p.Leu145Phe)
NM_000070.3(CAPN3):c.439C>A (p.Arg147=) rs878854364
NM_000070.3(CAPN3):c.451C>G (p.His151Asp) rs886051148
NM_000070.3(CAPN3):c.459A>C (p.Gln153His) rs2141160666
NM_000070.3(CAPN3):c.466A>G (p.Ile156Val) rs780611743
NM_000070.3(CAPN3):c.468C>G (p.Ile156Met)
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys) rs772580081
NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro) rs749697583
NM_000070.3(CAPN3):c.478G>T (p.Ala160Ser) rs749697583
NM_000070.3(CAPN3):c.481G>A (p.Gly161Arg) rs1566974488
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe) rs1595819812
NM_000070.3(CAPN3):c.498+7T>A
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.506G>A (p.Arg169His)
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu) rs2141164606
NM_000070.3(CAPN3):c.517T>G (p.Trp173Gly)
NM_000070.3(CAPN3):c.526G>A (p.Val176Met) rs774114705
NM_000070.3(CAPN3):c.526G>T (p.Val176Leu) rs774114705
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.539A>G (p.Asp180Gly)
NM_000070.3(CAPN3):c.553T>G (p.Tyr185Asp) rs1566975069
NM_000070.3(CAPN3):c.572T>G (p.Phe191Cys) rs2141164830
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr) rs148855999
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser) rs148855999
NM_000070.3(CAPN3):c.590G>A (p.Arg197His) rs768426565
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu) rs768426565
NM_000070.3(CAPN3):c.5C>G (p.Pro2Arg)
NM_000070.3(CAPN3):c.600C>G (p.Phe200Leu)
NM_000070.3(CAPN3):c.602G>C (p.Trp201Ser)
NM_000070.3(CAPN3):c.613C>G (p.Leu205Val)
NM_000070.3(CAPN3):c.618G>A (p.Glu206=) rs541597520
NM_000070.3(CAPN3):c.619_620delinsGC (p.Lys207Ala) rs2141165016
NM_000070.3(CAPN3):c.61G>T (p.Gly21Trp) rs886043070
NM_000070.3(CAPN3):c.620A>C (p.Lys207Thr) rs886043108
NM_000070.3(CAPN3):c.622G>T (p.Ala208Ser) rs1566975157
NM_000070.3(CAPN3):c.628G>A (p.Ala210Thr) rs2141165044
NM_000070.3(CAPN3):c.629C>G (p.Ala210Gly) rs2053446874
NM_000070.3(CAPN3):c.631A>G (p.Lys211Glu) rs1039308482
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000070.3(CAPN3):c.632+8A>G rs2053447422
NM_000070.3(CAPN3):c.638A>G (p.His213Arg) rs768447053
NM_000070.3(CAPN3):c.646T>C (p.Tyr216His) rs2141167665
NM_000070.3(CAPN3):c.652G>C (p.Ala218Pro) rs1555420621
NM_000070.3(CAPN3):c.665G>A (p.Gly222Glu)
NM_000070.3(CAPN3):c.670A>T (p.Thr224Ser) rs2141167741
NM_000070.3(CAPN3):c.673A>G (p.Thr225Ala) rs2053479373
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr) rs1595822648
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro) rs1595822648
NM_000070.3(CAPN3):c.67G>C (p.Val23Leu)
NM_000070.3(CAPN3):c.680C>T (p.Ala227Val) rs1566975567
NM_000070.3(CAPN3):c.688G>C (p.Asp230His) rs2053479765
NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly) rs1555420629
NM_000070.3(CAPN3):c.692T>C (p.Phe231Ser) rs1054458336
NM_000070.3(CAPN3):c.694A>C (p.Thr232Pro) rs886044405
NM_000070.3(CAPN3):c.698G>A (p.Gly233Glu)
NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg) rs886042440
NM_000070.3(CAPN3):c.703G>A (p.Val235Met) rs1302248441
NM_000070.3(CAPN3):c.712T>A (p.Phe238Ile)
NM_000070.3(CAPN3):c.733C>T (p.Pro245Ser)
NM_000070.3(CAPN3):c.739G>A (p.Asp247Asn) rs1251403881
NM_000070.3(CAPN3):c.740A>G (p.Asp247Gly) rs2141168006
NM_000070.3(CAPN3):c.75_83del (p.His25_Ala27del) rs1555417278
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg) rs762020512
NM_000070.3(CAPN3):c.77C>T (p.Pro26Leu) rs762020512
NM_000070.3(CAPN3):c.784A>G (p.Met262Val)
NM_000070.3(CAPN3):c.784A>T (p.Met262Leu)
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr) rs2053485296
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro) rs2053485355
NM_000070.3(CAPN3):c.793T>G (p.Ser265Ala) rs2053485355
NM_000070.3(CAPN3):c.801+3A>C
NM_000070.3(CAPN3):c.802-3C>T rs1376586945
NM_000070.3(CAPN3):c.809C>T (p.Thr270Met) rs1219356790
NM_000070.3(CAPN3):c.814A>G (p.Met272Val)
NM_000070.3(CAPN3):c.830C>T (p.Ser277Phe)
NM_000070.3(CAPN3):c.835_837del (p.Ser279del) rs776185666
NM_000070.3(CAPN3):c.859A>G (p.Ile287Val) rs1595823793
NM_000070.3(CAPN3):c.864A>G (p.Ala288=) rs1555420768
NM_000070.3(CAPN3):c.874A>T (p.Arg292Trp) rs1555420773
NM_000070.3(CAPN3):c.882G>A (p.Met294Ile) rs2141170446
NM_000070.3(CAPN3):c.896T>A (p.Leu299His) rs985712258
NM_000070.3(CAPN3):c.903C>A (p.Asp301Glu) rs2141170523
NM_000070.3(CAPN3):c.913G>C (p.Asp305His) rs753780627
NM_000070.3(CAPN3):c.916C>T (p.Pro306Ser)
NM_000070.3(CAPN3):c.928G>A (p.Asp310Asn)
NM_000070.3(CAPN3):c.934A>G (p.Arg312Gly)
NM_000070.3(CAPN3):c.943C>G (p.Arg315Gly)
NM_000070.3(CAPN3):c.945+5G>A rs773547765
NM_000070.3(CAPN3):c.945G>C (p.Arg315=)
NM_000070.3(CAPN3):c.945_945+47dup
NM_000070.3(CAPN3):c.946-9_946-5del rs758101156
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys) rs2053589191
NM_000070.3(CAPN3):c.96_97inv (p.Glu33Lys)
NM_000070.3(CAPN3):c.982T>C (p.Cys328Arg)
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000079.4(CHRNA1):c.779-12del rs67309103
NM_000082.4(ERCC8):c.*113A>G rs567684336
NM_000082.4(ERCC8):c.*373_*375dup rs886060720
NM_000082.4(ERCC8):c.*377C>G rs1747930621
NM_000082.4(ERCC8):c.*462T>A rs886060719
NM_000082.4(ERCC8):c.*644G>A rs181536191
NM_000082.4(ERCC8):c.*725T>G rs549186090
NM_000082.4(ERCC8):c.*7T>A rs377745901
NM_000082.4(ERCC8):c.-25G>C rs745927528
NM_000082.4(ERCC8):c.-33C>T rs769026318
NM_000082.4(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.4(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His) rs368676801
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp) rs1749618539
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr) rs367874889
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp) rs1748970086
NM_000082.4(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.4(ERCC8):c.945C>T (p.Thr315=) rs1173045461
NM_000083.3(CLCN1):c.-59C>A
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1004C>T (p.Thr335Ile)
NM_000083.3(CLCN1):c.1006A>G (p.Asn336Asp) rs2116852905
NM_000083.3(CLCN1):c.1007A>G (p.Asn336Ser)
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
NM_000083.3(CLCN1):c.1027T>A (p.Phe343Ile)
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1031A>G (p.Asp344Gly)
NM_000083.3(CLCN1):c.1051T>G (p.Phe351Val) rs2116853000
NM_000083.3(CLCN1):c.1064+6del rs1482886131
NM_000083.3(CLCN1):c.1079T>G (p.Leu360Arg)
NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1114G>A (p.Val372Ile)
NM_000083.3(CLCN1):c.1130G>A (p.Arg377Gln)
NM_000083.3(CLCN1):c.1149C>T (p.Ser383=)
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1167-9C>A rs770515905
NM_000083.3(CLCN1):c.1169G>A (p.Arg390His)
NM_000083.3(CLCN1):c.1169G>T (p.Arg390Leu)
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp) rs368958317
NM_000083.3(CLCN1):c.1195T>C (p.Phe399Leu)
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu) rs1802752292
NM_000083.3(CLCN1):c.1227A>T (p.Gly409=)
NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)
NM_000083.3(CLCN1):c.1243G>A (p.Ala415Thr) rs1023099235
NM_000083.3(CLCN1):c.1251+5G>A rs1802753836
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)
NM_000083.3(CLCN1):c.1254G>T (p.Leu418Phe)
NM_000083.3(CLCN1):c.1276A>C (p.Thr426Pro) rs749846585
NM_000083.3(CLCN1):c.1286A>G (p.Asp429Gly) rs1001314584
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) rs868831424
NM_000083.3(CLCN1):c.1342G>C (p.Val448Leu)
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321
NM_000083.3(CLCN1):c.1353C>A (p.His451Gln)
NM_000083.3(CLCN1):c.1354C>T (p.Pro452Ser) rs1416813045
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1400A>G (p.Lys467Arg)
NM_000083.3(CLCN1):c.1401G>A (p.Lys467=) rs2116855428
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
NM_000083.3(CLCN1):c.1417G>A (p.Val473Met)
NM_000083.3(CLCN1):c.1424C>T (p.Thr475Ile)
NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)
NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)
NM_000083.3(CLCN1):c.1436T>C (p.Ile479Thr) rs1803011827
NM_000083.3(CLCN1):c.1471G>C (p.Gly491Arg)
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) rs1586507943
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu) rs1803022284
NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)
NM_000083.3(CLCN1):c.1510A>G (p.Met504Val) rs1803022969
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) rs1271778777
NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)
NM_000083.3(CLCN1):c.1525G>A (p.Gly509Ser)
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn) rs756490905
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala) rs1802292476
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=) rs1332372122
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr) rs1319653705
NM_000083.3(CLCN1):c.1583-13T>A
NM_000083.3(CLCN1):c.1588G>A (p.Ala530Thr)
NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)
NM_000083.3(CLCN1):c.1600G>A (p.Gly534Ser)
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val) rs752814433
NM_000083.3(CLCN1):c.1613A>C (p.His538Pro)
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)
NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys) rs779726850
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
NM_000083.3(CLCN1):c.1727C>T (p.Ser576Phe) rs143825889
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu) rs1803094547
NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)
NM_000083.3(CLCN1):c.1774G>A (p.Asp592Asn)
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
NM_000083.3(CLCN1):c.180+4A>G rs2116829759
NM_000083.3(CLCN1):c.1805C>A (p.Thr602Asn)
NM_000083.3(CLCN1):c.180G>A (p.Gln60=)
NM_000083.3(CLCN1):c.181A>C (p.Ile61Leu)
NM_000083.3(CLCN1):c.1825A>C (p.Met609Leu)
NM_000083.3(CLCN1):c.1868G>C (p.Gly623Ala)
NM_000083.3(CLCN1):c.1870G>A (p.Glu624Lys)
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.187G>A (p.Gly63Ser)
NM_000083.3(CLCN1):c.1897A>G (p.Thr633Ala)
NM_000083.3(CLCN1):c.1898C>T (p.Thr633Ile)
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.193C>G (p.His65Asp)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)
NM_000083.3(CLCN1):c.1949G>A (p.Gly650Asp)
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)
NM_000083.3(CLCN1):c.2124C>A (p.Phe708Leu)
NM_000083.3(CLCN1):c.2131G>C (p.Val711Leu) rs2116384678
NM_000083.3(CLCN1):c.2136TGAGGA[3] (p.713ED[4]) rs776429032
NM_000083.3(CLCN1):c.214A>G (p.Arg72Gly) rs1219415384
NM_000083.3(CLCN1):c.2161G>A (p.Gly721Ser) rs1300665013
NM_000083.3(CLCN1):c.2173-3C>G rs1169171168
NM_000083.3(CLCN1):c.2173-5T>G
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala) rs539404339
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile) rs1803237753
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val) rs1586483060
NM_000083.3(CLCN1):c.2255A>G (p.Lys752Arg) rs2116386398
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2279C>A (p.Pro760His)
NM_000083.3(CLCN1):c.2284+12C>G rs1472307602
NM_000083.3(CLCN1):c.2284+6G>A
NM_000083.3(CLCN1):c.2329G>C (p.Gly777Arg) rs2116387531
NM_000083.3(CLCN1):c.2330G>T (p.Gly777Val) rs1803256620
NM_000083.3(CLCN1):c.2339G>T (p.Arg780Leu) rs529481237
NM_000083.3(CLCN1):c.235C>T (p.Pro79Ser)
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu) rs1803265479
NM_000083.3(CLCN1):c.2403+3G>A
NM_000083.3(CLCN1):c.2403+4A>G
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2431A>C (p.Ser811Arg) rs2116396688
NM_000083.3(CLCN1):c.2437C>T (p.Pro813Ser)
NM_000083.3(CLCN1):c.2453C>A (p.Ser818Tyr)
NM_000083.3(CLCN1):c.245C>T (p.Thr82Ile) rs2116834657
NM_000083.3(CLCN1):c.2461A>C (p.Ile821Leu)
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
NM_000083.3(CLCN1):c.2464G>A (p.Asp822Asn)
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)
NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr) rs2116397081
NM_000083.3(CLCN1):c.2505C>G (p.His835Gln)
NM_000083.3(CLCN1):c.2508+5G>A rs1401007697
NM_000083.3(CLCN1):c.2519T>G (p.Leu840Arg)
NM_000083.3(CLCN1):c.2531T>C (p.Leu844Pro) rs2116397538
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly) rs1193157349
NM_000083.3(CLCN1):c.2542C>G (p.Leu848Val)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2595G>A (p.Glu865=) rs2116397852
NM_000083.3(CLCN1):c.2596-11C>G rs2116400965
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser)
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) rs745344072
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr) rs1319094688
NM_000083.3(CLCN1):c.260C>T (p.Thr87Ile)
NM_000083.3(CLCN1):c.2617C>T (p.His873Tyr) rs2116401119
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser) rs1803409136
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571
NM_000083.3(CLCN1):c.2692G>A (p.Gly898Arg)
NM_000083.3(CLCN1):c.2695G>A (p.Ala899Thr)
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro) rs1803412320
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala) rs1803414359
NM_000083.3(CLCN1):c.2778C>A (p.Ser926=)
NM_000083.3(CLCN1):c.277G>A (p.Glu93Lys)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro) rs1803417569
NM_000083.3(CLCN1):c.2811G>T (p.Glu937Asp)
NM_000083.3(CLCN1):c.2812C>T (p.Pro938Ser)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu) rs1226179201
NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2896C>G (p.Leu966Val) rs138115069
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His) rs748630375
NM_000083.3(CLCN1):c.2909T>A (p.Leu970Ter)
NM_000083.3(CLCN1):c.2937C>A (p.Asp979Glu)
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
NM_000083.3(CLCN1):c.2941G>A (p.Glu981Lys) rs1586524391
NM_000083.3(CLCN1):c.2945A>C (p.Asp982Ala)
NM_000083.3(CLCN1):c.2947G>A (p.Glu983Lys)
NM_000083.3(CLCN1):c.294A>C (p.Lys98Asn)
NM_000083.3(CLCN1):c.2960T>A (p.Ile987Asn)
NM_000083.3(CLCN1):c.2962C>G (p.Leu988Val)
NM_000083.3(CLCN1):c.2962del (p.Leu988fs) rs748329158
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.343G>A (p.Gly115Arg) rs1802406028
NM_000083.3(CLCN1):c.355A>G (p.Ile119Val)
NM_000083.3(CLCN1):c.365T>A (p.Val122Glu) rs2116836338
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu) rs1802406774
NM_000083.3(CLCN1):c.392T>G (p.Val131Gly) rs769391461
NM_000083.3(CLCN1):c.404T>C (p.Met135Thr)
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala)
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His) rs748639603
NM_000083.3(CLCN1):c.414C>G (p.Val138=)
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.430C>G (p.Gln144Glu)
NM_000083.3(CLCN1):c.431A>G (p.Gln144Arg)
NM_000083.3(CLCN1):c.433+4G>C
NM_000083.3(CLCN1):c.433+4G>T
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) rs1475533366
NM_000083.3(CLCN1):c.434-17G>C
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)
NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg) rs1409574232
NM_000083.3(CLCN1):c.487G>A (p.Val163Ile) rs763587236
NM_000083.3(CLCN1):c.497C>G (p.Thr166Ser) rs759966057
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.518T>A (p.Leu173His)
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val) rs766286036
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
NM_000083.3(CLCN1):c.542T>C (p.Leu181Pro) rs2116837812
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.562G>A (p.Gly188Ser)
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp) rs1554434857
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.596G>A (p.Arg199His)
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
NM_000083.3(CLCN1):c.604G>T (p.Val202Phe)
NM_000083.3(CLCN1):c.619C>T (p.Leu207Phe)
NM_000083.3(CLCN1):c.626T>G (p.Met209Arg) rs1802444087
NM_000083.3(CLCN1):c.629A>G (p.Lys210Arg)
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.677G>A (p.Gly226Asp)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.696+5G>A rs865899737
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.69G>C (p.Gln23His) rs760729130
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.710A>G (p.His237Arg) rs542648820
NM_000083.3(CLCN1):c.712A>G (p.Ile238Val) rs765718767
NM_000083.3(CLCN1):c.712A>T (p.Ile238Phe)
NM_000083.3(CLCN1):c.715G>C (p.Ala239Pro) rs1454438376
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr) rs1586487813
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.750G>T (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.759C>G (p.Phe253Leu)
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.814_815delinsAA (p.Ala272Asn)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly) rs1563075892
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.81T>A (p.Phe27Leu)
NM_000083.3(CLCN1):c.821G>A (p.Gly274Glu) rs2116842888
NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys) rs765181341
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg) rs80190110
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala) rs1586489432
NM_000083.3(CLCN1):c.845C>G (p.Pro282Arg)
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.854-3C>A
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val)
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile) rs762943928
NM_000083.3(CLCN1):c.889T>G (p.Phe297Val) rs2116852202
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.911G>A (p.Arg304Lys)
NM_000083.3(CLCN1):c.923C>T (p.Ala308Val) rs1406554534
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys) rs1586496817
NM_000083.3(CLCN1):c.944T>C (p.Val315Ala)
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) rs1337473924
NM_000083.3(CLCN1):c.966G>C (p.Trp322Cys)
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) rs780421370
NM_000083.3(CLCN1):c.984C>T (p.Thr328=)
NM_000083.3(CLCN1):c.984_989del (p.Ile329_Thr330del)
NM_000083.3(CLCN1):c.991_992delinsCT (p.Ala331Leu) rs2116852875
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)
NM_000091.5(COL4A3):c.1029+4A>G rs2125947156
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val) rs1237274947
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.5(COL4A3):c.1759-11T>A rs1433223189
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala) rs2071331630
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu) rs2071336508
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg) rs2125996501
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu) rs2106124698
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser) rs747891356
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr) rs1354756195
NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)
NM_000091.5(COL4A3):c.2636del (p.Pro879fs) rs2106164640
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3189_3197dup (p.1064PGP[3]) rs1553762295
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly) rs766520935
NM_000091.5(COL4A3):c.3247G>C (p.Gly1083Arg) rs2106226509
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile) rs1574813579
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=) rs753945261
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly) rs761179248
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr) rs2106284049
NM_000091.5(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=) rs2073573869
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)
NM_000091.5(COL4A3):c.4702C>T (p.Pro1568Ser) rs2073644777
NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter) rs2106289552
NM_000091.5(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.5(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.5(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg) rs1553766932
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.766-5G>A rs751236477
NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)
NM_000092.5(COL4A4):c.1030-14A>G rs2060400553
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr) rs2150686207
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1459+5G>A rs2150615599
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly) rs1387537859
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) rs1559677316
NM_000092.5(COL4A4):c.2594del (p.Pro865fs) rs2150235627
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup) rs765923395
NM_000092.5(COL4A4):c.2624del (p.Pro875fs)
NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.5(COL4A4):c.3317G>T (p.Gly1106Val)
NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3716G>T (p.Gly1239Val) rs1394140383
NM_000092.5(COL4A4):c.3738C>T (p.Ala1246=) rs2149978554
NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
NM_000092.5(COL4A4):c.4081+14C>T rs1553623984
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe) rs1962599188
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.489+6A>G
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000123.4(ERCC5):c.-192A>C rs916384868
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) rs142927249
NM_000123.4(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr) rs2140527689
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg) rs1882697320
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.2182T>A (p.Trp728Arg)
NM_000123.4(ERCC5):c.2189A>G (p.Asp730Gly) rs766211518
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe) rs1882817610
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=) rs747408676
NM_000123.4(ERCC5):c.246A>C (p.Leu82=) rs757602836
NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del) rs1882858341
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.4(ERCC5):c.2604T>A (p.Thr868=) rs1847952748
NM_000123.4(ERCC5):c.2844T>C (p.Phe948=) rs563587995
NM_000123.4(ERCC5):c.2965-14T>A rs886049941
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala) rs1266019512
NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg) rs750395826
NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.380+3A>T
NM_000123.4(ERCC5):c.479A>T (p.Glu160Val) rs1882405209
NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys) rs762256976
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.4(ERCC5):c.664A>G (p.Met222Val) rs1391956862
NM_000123.4(ERCC5):c.669A>C (p.Pro223=) rs541094745
NM_000123.4(ERCC5):c.670G>C (p.Glu224Gln) rs552776094
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000124.4(ERCC6):c.*1805G>T rs1850494237
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*246T>C rs1850520931
NM_000124.4(ERCC6):c.*2973C>G rs951313840
NM_000124.4(ERCC6):c.*3366G>A rs1850469256
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*4090G>A rs117555054
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*589A>G rs1850515497
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-83G>A rs886047040
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln) rs772545860
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2523G>T (p.Met841Ile)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.289G>A (p.Val97Met) rs1837497957
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg) rs1435512927
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3762G>T (p.Lys1254Asn) rs1850747769
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro) rs1464826740
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=) rs1379322521
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp) rs370285377
NM_000124.4(ERCC6):c.423-7T>C rs1837452924
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys) rs1360922012
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.652G>A (p.Glu218Lys) rs2132631324
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000132.4(F8):c.1847A>G (p.Asn616Ser)
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln) rs1589713974
NM_000141.5(FGFR2):c.2177C>G (p.Ala726Gly) rs1458081920
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000161.3(GCH1):c.16G>T (p.Val6Leu) rs1413964407
NM_000161.3(GCH1):c.514G>A (p.Val172Ile) rs1566660315
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>C rs781377703
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) rs1415041911
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) rs1257648811
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.675C>T (p.Ile225=) rs772754004
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000162.5(GCK):c.792C>A (p.Gly264=) rs754094813
NM_000163.5(GHR):c.*1253_*1256del rs886060646
NM_000163.5(GHR):c.*1531G>A rs1437623602
NM_000163.5(GHR):c.*154G>A rs565340420
NM_000163.5(GHR):c.*1689A>T rs886060647
NM_000163.5(GHR):c.*1747G>A rs1759005388
NM_000163.5(GHR):c.*1916T>G rs886060650
NM_000163.5(GHR):c.*2042A>G rs886060652
NM_000163.5(GHR):c.*832G>A rs1006780293
NM_000163.5(GHR):c.*913C>T rs540531795
NM_000163.5(GHR):c.*981G>A rs886060645
NM_000163.5(GHR):c.-118C>T rs1050201240
NM_000163.5(GHR):c.-74C>T rs892049573
NM_000163.5(GHR):c.-76C>T rs1742723526
NM_000163.5(GHR):c.-89G>T rs1033209852
NM_000163.5(GHR):c.1025G>T (p.Trp342Leu) rs886060641
NM_000163.5(GHR):c.12G>C (p.Trp4Cys) rs1554020272
NM_000163.5(GHR):c.1640C>T (p.Ala547Val) rs886060642
NM_000163.5(GHR):c.1664A>G (p.His555Arg) rs1036625271
NM_000163.5(GHR):c.1788C>G (p.Thr596=) rs886060643
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
NM_000163.5(GHR):c.311A>G (p.Tyr104Cys)
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.484G>T (p.Val162Phe) rs6413484
NM_000163.5(GHR):c.723C>T (p.Gly241=)
NM_000163.5(GHR):c.743A>G (p.Tyr248Cys) rs557134454
NM_000165.5(GJA1):c.1055A>T (p.Glu352Val)
NM_000165.5(GJA1):c.1075G>A (p.Val359Met)
NM_000165.5(GJA1):c.1103G>A (p.Ser368Asn) rs1064796878
NM_000165.5(GJA1):c.1114A>G (p.Ser372Gly)
NM_000165.5(GJA1):c.1137C>A (p.Asp379Glu)
NM_000165.5(GJA1):c.119_121del (p.Ala40del) rs2114282978
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
NM_000165.5(GJA1):c.152C>G (p.Ala51Gly)
NM_000165.5(GJA1):c.158G>A (p.Arg53His)
NM_000165.5(GJA1):c.162dup (p.Asn55Ter) rs2114283056
NM_000165.5(GJA1):c.184G>A (p.Glu62Lys)
NM_000165.5(GJA1):c.189T>G (p.Asn63Lys) rs139688042
NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.252T>A (p.Phe84Leu) rs1773901515
NM_000165.5(GJA1):c.256T>A (p.Ser86Thr) rs2114283193
NM_000165.5(GJA1):c.283C>T (p.His95Tyr)
NM_000165.5(GJA1):c.287T>C (p.Val96Ala)
NM_000165.5(GJA1):c.296T>A (p.Val99Glu) rs1554201009
NM_000165.5(GJA1):c.302G>A (p.Arg101Gln)
NM_000165.5(GJA1):c.317T>C (p.Leu106Pro) rs2114283321
NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)
NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)
NM_000165.5(GJA1):c.361G>A (p.Val121Ile)
NM_000165.5(GJA1):c.402G>C (p.Lys134Asn)
NM_000165.5(GJA1):c.413G>T (p.Gly138Val)
NM_000165.5(GJA1):c.430A>T (p.Lys144Ter)
NM_000165.5(GJA1):c.445G>A (p.Gly149Arg)
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)
NM_000165.5(GJA1):c.466A>G (p.Ile156Val)
NM_000165.5(GJA1):c.493T>C (p.Phe165Leu)
NM_000165.5(GJA1):c.502G>A (p.Ala168Thr) rs2228961
NM_000165.5(GJA1):c.503C>G (p.Ala168Gly)
NM_000165.5(GJA1):c.526A>G (p.Ile176Val) rs878853696
NM_000165.5(GJA1):c.528C>G (p.Ile176Met)
NM_000165.5(GJA1):c.539G>T (p.Ser180Ile)
NM_000165.5(GJA1):c.545G>A (p.Ser182Asn)
NM_000165.5(GJA1):c.565del (p.Arg189fs) rs1582558420
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) rs1773907180
NM_000165.5(GJA1):c.586G>A (p.Val196Met)
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000165.5(GJA1):c.634T>A (p.Phe212Ile) rs1773908003
NM_000165.5(GJA1):c.643G>A (p.Val215Met) rs1390364475
NM_000165.5(GJA1):c.655G>A (p.Val219Met)
NM_000165.5(GJA1):c.655G>C (p.Val219Leu)
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000165.5(GJA1):c.682C>T (p.Leu228Phe)
NM_000165.5(GJA1):c.689del (p.Tyr230fs) rs2114283978
NM_000165.5(GJA1):c.711G>C (p.Lys237Asn)
NM_000165.5(GJA1):c.718_719delinsAA (p.Val240Asn) rs2114284069
NM_000165.5(GJA1):c.732C>A (p.Ser244Arg) rs754052391
NM_000165.5(GJA1):c.733G>A (p.Asp245Asn)
NM_000165.5(GJA1):c.736C>A (p.Pro246Thr)
NM_000165.5(GJA1):c.746C>T (p.Ala249Val)
NM_000165.5(GJA1):c.755G>A (p.Gly252Asp) rs1773910782
NM_000165.5(GJA1):c.761T>C (p.Leu254Pro) rs1374645750
NM_000165.5(GJA1):c.826G>A (p.Ala276Thr)
NM_000165.5(GJA1):c.832C>T (p.Leu278Phe)
NM_000165.5(GJA1):c.847CCT[1] (p.Pro284del)
NM_000165.5(GJA1):c.851C>T (p.Pro284Leu)
NM_000165.5(GJA1):c.861G>T (p.Lys287Asn)
NM_000165.5(GJA1):c.875A>G (p.Asp292Gly)
NM_000165.5(GJA1):c.875A>T (p.Asp292Val)
NM_000165.5(GJA1):c.882C>G (p.Asn294Lys)
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del) rs976659652
NM_000165.5(GJA1):c.895C>A (p.Arg299Ser) rs748954821
NM_000165.5(GJA1):c.895C>T (p.Arg299Cys) rs748954821
NM_000165.5(GJA1):c.896G>T (p.Arg299Leu) rs778457698
NM_000165.5(GJA1):c.908A>G (p.Lys303Arg)
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855
NM_000165.5(GJA1):c.937_945dup (p.Ala315_Glu316insTyrSerAla)
NM_000165.5(GJA1):c.952A>C (p.Asn318His)
NM_000165.5(GJA1):c.956G>A (p.Arg319Gln)
NM_000165.5(GJA1):c.962G>A (p.Gly321Glu) rs1294212392
NM_000165.5(GJA1):c.971G>A (p.Gly324Glu)
NM_000165.5(GJA1):c.977C>T (p.Thr326Ile)
NM_000165.5(GJA1):c.981C>G (p.Ile327Met)
NM_000165.5(GJA1):c.992A>T (p.His331Leu)
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val) rs2151799779
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
NM_000180.4(GUCY2D):c.1027G>T (p.Val343Phe)
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys) rs768812125
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala) rs755696904
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly) rs1423033093
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu) rs748156659
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile) rs758931689
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
NM_000180.4(GUCY2D):c.1073C>T (p.Ala358Val)
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=) rs1264540934
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln) rs141917297
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala) rs749607771
NM_000180.4(GUCY2D):c.1123G>A (p.Gly375Arg)
NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)
NM_000180.4(GUCY2D):c.1139G>A (p.Arg380His)
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
NM_000180.4(GUCY2D):c.1220C>A (p.Thr407Lys) rs377650196
NM_000180.4(GUCY2D):c.1220C>G (p.Thr407Arg) rs377650196
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val) rs773030462
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln) rs1253086014
NM_000180.4(GUCY2D):c.1249A>T (p.Thr417Ser)
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile) rs202111469
NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu) rs2151800552
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.1296C>G (p.Thr432=)
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp) rs769749617
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp) rs140638938
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu) rs61749679
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
NM_000180.4(GUCY2D):c.1378+5G>A rs2151800630
NM_000180.4(GUCY2D):c.1378+5G>C rs2151800630
NM_000180.4(GUCY2D):c.1378+8C>T rs1457493139
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
NM_000180.4(GUCY2D):c.1396G>C (p.Val466Leu)
NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr) rs1975657312
NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)
NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
NM_000180.4(GUCY2D):c.1464-3C>G
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
NM_000180.4(GUCY2D):c.1480A>G (p.Met494Val)
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile) rs2151800878
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile) rs767360120
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe) rs767360120
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp) rs1975767998
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del) rs879629840
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu) rs1975769511
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg) rs1975777337
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
NM_000180.4(GUCY2D):c.1601G>T (p.Arg534Leu)
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu) rs372005126
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile) rs1975779836
NM_000180.4(GUCY2D):c.1668+4A>T
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
NM_000180.4(GUCY2D):c.1750-6T>C
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg) rs2151802328
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met) rs373362030
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp) rs1451847992
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr) rs1009884304
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val) rs2151802372
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr) rs1975865453
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser) rs1975865453
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
NM_000180.4(GUCY2D):c.1894G>A (p.Ala632Thr)
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly) rs1975867670
NM_000180.4(GUCY2D):c.1915G>T (p.Asp639Tyr)
NM_000180.4(GUCY2D):c.1956+11G>A
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly) rs61750161
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr) rs1975873821
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu) rs935195316
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr) rs1270111845
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr) rs1434526446
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly) rs2151802784
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr) rs1459595665
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr) rs1975891409
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val) rs2151802824
NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys) rs532577225
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del) rs2151803037
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser) rs1975906957
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu) rs2151803073
NM_000180.4(GUCY2D):c.2326G>A (p.Ala776Thr)
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup) rs1975666989
NM_000180.4(GUCY2D):c.2335G>A (p.Glu779Lys)
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr) rs1187359735
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro) rs1166312966
NM_000180.4(GUCY2D):c.2351T>C (p.Met784Thr)
NM_000180.4(GUCY2D):c.2354A>C (p.Lys785Thr)
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup) rs952193754
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val) rs1975911307
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser) rs1196292120
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly) rs894774212
NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
NM_000180.4(GUCY2D):c.2464C>T (p.Arg822Trp)
NM_000180.4(GUCY2D):c.2465G>A (p.Arg822Gln)
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro) rs398123233
NM_000180.4(GUCY2D):c.2473G>A (p.Glu825Lys)
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp) rs2151803325
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys) rs1975926150
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr) rs61750176
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys) rs375727197
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys) rs1300820031
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val) rs1165720101
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) rs1975936032
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val) rs1975943872
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg) rs749432012
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr) rs1370972064
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg) rs1975945188
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly) rs756575304
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu) rs61750180
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys) rs2151803652
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro) rs1285198149
NM_000180.4(GUCY2D):c.2878G>C (p.Val960Leu)
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg) rs2151803673
NM_000180.4(GUCY2D):c.2882G>T (p.Gly961Val)
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly) rs933256547
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2900A>G (p.His967Arg)
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile) rs1975948376
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2929A>T (p.Ile977Leu)
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp) rs754320374
NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val) rs754320374
NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)
NM_000180.4(GUCY2D):c.2945-7_2945-6del rs754170656
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg) rs1975956164
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser) rs1304984076
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu) rs1248867031
NM_000180.4(GUCY2D):c.2978del (p.Met993fs) rs1598151437
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met) rs1462685344
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys) rs61750192
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp) rs1975964730
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met) rs1289590584
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
NM_000180.4(GUCY2D):c.3139-3C>G rs771769796
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser) rs1221467842
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro) rs2151804090
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser) rs1975972260
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala) rs2151799362
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.3224+6G>A
NM_000180.4(GUCY2D):c.3225-2A>T
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu) rs2151799367
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln) rs371952237
NM_000180.4(GUCY2D):c.3289G>T (p.Ala1097Ser)
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly) rs776624188
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp) rs776624188
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser) rs1301554038
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu) rs1240857882
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro) rs2151799381
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp) rs2151799404
NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.411G>C (p.Glu137Asp)
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr) rs776276813
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val) rs1975674167
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser) rs1975674812
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser) rs978982123
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe) rs1975677447
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg) rs1484809146
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys) rs917296356
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro) rs1370721862
NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser) rs1975680506
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met) rs1975680589
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser) rs759280279
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
NM_000180.4(GUCY2D):c.721+5G>C
NM_000180.4(GUCY2D):c.721+5G>T rs1389913804
NM_000180.4(GUCY2D):c.722-17C>T
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val) rs959135126
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp) rs138922415
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro) rs1243270832
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro) rs2151799650
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser) rs745444949
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000180.4(GUCY2D):c.857C>T (p.Ser286Phe)
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg) rs2151799705
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)
NM_000180.4(GUCY2D):c.934A>G (p.Thr312Ala)
NM_000180.4(GUCY2D):c.935C>A (p.Thr312Lys)
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg) rs61749673
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup) rs1248938251
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln) rs755999834
NM_000208.4(INSR):c.*1067G>A rs141647996
NM_000208.4(INSR):c.*1190A>G rs1972310295
NM_000208.4(INSR):c.*1525G>A rs886054674
NM_000208.4(INSR):c.*1592G>A rs886054673
NM_000208.4(INSR):c.*1831C>A rs111750247
NM_000208.4(INSR):c.*1831C>T rs111750247
NM_000208.4(INSR):c.*1909A>G rs989727643
NM_000208.4(INSR):c.*2102T>C rs1972287724
NM_000208.4(INSR):c.*2145_*2146dup rs57473640
NM_000208.4(INSR):c.*214G>A rs1972340823
NM_000208.4(INSR):c.*2633del rs532103296
NM_000208.4(INSR):c.*2752C>G rs577444458
NM_000208.4(INSR):c.*2752C>T rs577444458
NM_000208.4(INSR):c.*289del rs886054684
NM_000208.4(INSR):c.*3008_*3009del rs1555733404
NM_000208.4(INSR):c.*3008del rs72149315
NM_000208.4(INSR):c.*3010del rs886054664
NM_000208.4(INSR):c.*3013C>G rs533582304
NM_000208.4(INSR):c.*302A>G rs1972337815
NM_000208.4(INSR):c.*3101C>G rs1474403993
NM_000208.4(INSR):c.*334C>T rs1016923782
NM_000208.4(INSR):c.*334del rs886054683
NM_000208.4(INSR):c.*3390CAA[4] rs886054663
NM_000208.4(INSR):c.*348_*355dup rs71177157
NM_000208.4(INSR):c.*349_*355dup rs71177157
NM_000208.4(INSR):c.*352_*355dup rs71177157
NM_000208.4(INSR):c.*355_*356del rs1491388964
NM_000208.4(INSR):c.*356_*357del rs1555733954
NM_000208.4(INSR):c.*358_*359insTTTTTT rs886054680
NM_000208.4(INSR):c.*3855C>G rs1233808516
NM_000208.4(INSR):c.*3858G>A rs912366991
NM_000208.4(INSR):c.*4349C>T rs886054661
NM_000208.4(INSR):c.*4376G>C rs1277836861
NM_000208.4(INSR):c.*4719dup rs543556010
NM_000208.4(INSR):c.*4736T>G rs886054658
NM_000208.4(INSR):c.*511del rs886054679
NM_000208.4(INSR):c.*541dup rs886054678
NM_000208.4(INSR):c.*743A>G rs1459964736
NM_000208.4(INSR):c.*853A>C rs886054677
NM_000208.4(INSR):c.*927_*928insG rs886054675
NM_000208.4(INSR):c.*959A>G rs988651664
NM_000208.4(INSR):c.*973dup rs547421118
NM_000208.4(INSR):c.1305A>G (p.Leu435=) rs1463291322
NM_000208.4(INSR):c.1866C>T (p.Pro622=) rs767792551
NM_000208.4(INSR):c.1988C>T (p.Ala663Val) rs201034510
NM_000208.4(INSR):c.2245G>A (p.Gly749Ser) rs545885277
NM_000208.4(INSR):c.2471C>T (p.Ala824Val) rs886054689
NM_000208.4(INSR):c.2522G>A (p.Ser841Asn) rs780976765
NM_000208.4(INSR):c.2602C>T (p.His868Tyr) rs370120425
NM_000208.4(INSR):c.2739G>T (p.Leu913=) rs753461226
NM_000208.4(INSR):c.2933T>A (p.Phe978Tyr) rs886054688
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser) rs1281347529
NM_000208.4(INSR):c.3054G>A (p.Val1018=) rs886054687
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro) rs52826008
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000208.4(INSR):c.783C>G (p.Asp261Glu) rs891087
NM_000208.4(INSR):c.921CAA[2] (p.Asn309del) rs775724610
NM_000211.5(ITGB2):c.*145C>T rs1160263
NM_000211.5(ITGB2):c.*219AGG[1] rs772191268
NM_000211.5(ITGB2):c.*403C>T rs886057114
NM_000211.5(ITGB2):c.*56_*59dup rs886057115
NM_000211.5(ITGB2):c.1034T>C (p.Leu345Pro) rs1460516188
NM_000211.5(ITGB2):c.106T>G (p.Cys36Gly) rs2084111337
NM_000211.5(ITGB2):c.1081A>C (p.Asn361His) rs2083842316
NM_000211.5(ITGB2):c.1084-5C>T rs781696813
NM_000211.5(ITGB2):c.1105C>A (p.Leu369Met) rs2146508445
NM_000211.5(ITGB2):c.1112A>T (p.His371Leu) rs2083821185
NM_000211.5(ITGB2):c.1130_1131delinsTT (p.Thr377Ile)
NM_000211.5(ITGB2):c.1138G>C (p.Val380Leu) rs1273615785
NM_000211.5(ITGB2):c.1159A>C (p.Ser387Arg)
NM_000211.5(ITGB2):c.1176C>G (p.His392Gln)
NM_000211.5(ITGB2):c.1177A>G (p.Arg393Gly) rs2083819691
NM_000211.5(ITGB2):c.1202A>G (p.Asp401Gly)
NM_000211.5(ITGB2):c.1205G>A (p.Gly402Asp) rs2146508200
NM_000211.5(ITGB2):c.1206C>T (p.Gly402=) rs753706143
NM_000211.5(ITGB2):c.121C>T (p.Pro41Ser) rs2146546214
NM_000211.5(ITGB2):c.1224+5G>A rs2146508114
NM_000211.5(ITGB2):c.1225-3C>T
NM_000211.5(ITGB2):c.1230C>G (p.Thr410=) rs886057117
NM_000211.5(ITGB2):c.124G>A (p.Gly42Ser)
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000211.5(ITGB2):c.1286G>C (p.Arg429Pro) rs775531955
NM_000211.5(ITGB2):c.1301C>T (p.Thr434Met) rs147537677
NM_000211.5(ITGB2):c.1315G>A (p.Val439Met)
NM_000211.5(ITGB2):c.1319A>C (p.Gln440Pro)
NM_000211.5(ITGB2):c.1319A>G (p.Gln440Arg)
NM_000211.5(ITGB2):c.131C>T (p.Thr44Ile) rs1601322083
NM_000211.5(ITGB2):c.1321G>A (p.Val441Ile)
NM_000211.5(ITGB2):c.1332G>T (p.Gln444His) rs767850773
NM_000211.5(ITGB2):c.1366C>T (p.Arg456Cys) rs146014032
NM_000211.5(ITGB2):c.1367G>A (p.Arg456His)
NM_000211.5(ITGB2):c.137G>T (p.Cys46Phe)
NM_000211.5(ITGB2):c.1382G>C (p.Gly461Ala) rs1451408184
NM_000211.5(ITGB2):c.1390T>G (p.Phe464Val) rs1601287199
NM_000211.5(ITGB2):c.1392C>G (p.Phe464Leu)
NM_000211.5(ITGB2):c.13C>A (p.Arg5Ser) rs61737078
NM_000211.5(ITGB2):c.1405A>G (p.Ile469Val) rs2146504186
NM_000211.5(ITGB2):c.1413-6C>A rs905822395
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.1467C>G (p.Ser489Arg) rs2146500437
NM_000211.5(ITGB2):c.1492C>T (p.Arg498Trp) rs372695770
NM_000211.5(ITGB2):c.1495A>C (p.Lys499Gln) rs2083765900
NM_000211.5(ITGB2):c.1507T>A (p.Ser503Thr) rs1568882038
NM_000211.5(ITGB2):c.1507T>C (p.Ser503Pro)
NM_000211.5(ITGB2):c.1513A>G (p.Ile505Val) rs2083765269
NM_000211.5(ITGB2):c.151T>A (p.Phe51Ile)
NM_000211.5(ITGB2):c.1570G>T (p.Val524Phe)
NM_000211.5(ITGB2):c.1576_1581del (p.Gly526_Lys527del) rs2083763778
NM_000211.5(ITGB2):c.1602C>T (p.Cys534=) rs748574145
NM_000211.5(ITGB2):c.1619A>G (p.Asn540Ser)
NM_000211.5(ITGB2):c.1628G>A (p.Arg543His)
NM_000211.5(ITGB2):c.1636G>A (p.Gly546Ser) rs1052752055
NM_000211.5(ITGB2):c.1642G>T (p.Val548Phe) rs886057116
NM_000211.5(ITGB2):c.1648G>A (p.Gly550Ser)
NM_000211.5(ITGB2):c.1651G>A (p.Gly551Ser)
NM_000211.5(ITGB2):c.1656G>A (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1656G>C (p.Pro552=) rs759039359
NM_000211.5(ITGB2):c.1666C>T (p.Leu556Phe)
NM_000211.5(ITGB2):c.1678G>C (p.Gly560Arg) rs747266748
NM_000211.5(ITGB2):c.1694A>T (p.His565Leu) rs965990834
NM_000211.5(ITGB2):c.169C>A (p.Pro57Thr) rs1401782366
NM_000211.5(ITGB2):c.1700G>T (p.Gly567Val) rs754953540
NM_000211.5(ITGB2):c.1709G>A (p.Gly570Asp) rs2083752823
NM_000211.5(ITGB2):c.1711T>G (p.Ser571Ala) rs1006758335
NM_000211.5(ITGB2):c.175T>A (p.Ser59Thr)
NM_000211.5(ITGB2):c.1790G>A (p.Arg597His)
NM_000211.5(ITGB2):c.1798G>A (p.Val600Ile)
NM_000211.5(ITGB2):c.1804G>A (p.Glu602Lys) rs145850370
NM_000211.5(ITGB2):c.1828C>T (p.Pro610Ser) rs2083749841
NM_000211.5(ITGB2):c.1849G>A (p.Gly617Ser)
NM_000211.5(ITGB2):c.1849G>T (p.Gly617Cys) rs749135078
NM_000211.5(ITGB2):c.1862C>T (p.Pro621Leu) rs2083748907
NM_000211.5(ITGB2):c.1877+12C>A rs200144784
NM_000211.5(ITGB2):c.1877+4A>T rs2146497740
NM_000211.5(ITGB2):c.187G>C (p.Asp63His) rs758534687
NM_000211.5(ITGB2):c.1880C>G (p.Ser627Cys) rs964332173
NM_000211.5(ITGB2):c.1908G>C (p.Lys636Asn) rs1601281049
NM_000211.5(ITGB2):c.1912C>T (p.Pro638Ser)
NM_000211.5(ITGB2):c.1933G>A (p.Ala645Thr) rs142112499
NM_000211.5(ITGB2):c.1933G>T (p.Ala645Ser) rs142112499
NM_000211.5(ITGB2):c.193C>T (p.Arg65Trp)
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=) rs139840790
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.1982C>T (p.Thr661Ile) rs2083736727
NM_000211.5(ITGB2):c.19C>G (p.Pro7Ala) rs753110953
NM_000211.5(ITGB2):c.2014G>T (p.Val672Leu)
NM_000211.5(ITGB2):c.2029G>A (p.Glu677Lys)
NM_000211.5(ITGB2):c.203T>G (p.Leu68Arg)
NM_000211.5(ITGB2):c.2078G>C (p.Arg693Pro) rs200335681
NM_000211.5(ITGB2):c.2080+6G>C rs1044311307
NM_000211.5(ITGB2):c.2090C>T (p.Ala697Val)
NM_000211.5(ITGB2):c.20C>A (p.Pro7Gln) rs759479855
NM_000211.5(ITGB2):c.2116G>A (p.Gly706Arg) rs202203340
NM_000211.5(ITGB2):c.2120G>C (p.Gly707Ala) rs2146491308
NM_000211.5(ITGB2):c.218G>A (p.Cys73Tyr)
NM_000211.5(ITGB2):c.2198G>A (p.Arg733Gln)
NM_000211.5(ITGB2):c.2269G>A (p.Ala757Thr) rs1421408165
NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)
NM_000211.5(ITGB2):c.228C>A (p.Asp76Glu) rs368629638
NM_000211.5(ITGB2):c.229G>T (p.Asp77Tyr) rs141799330
NM_000211.5(ITGB2):c.2302G>C (p.Glu768Gln)
NM_000211.5(ITGB2):c.2310G>A (p.Ter770=) rs762881198
NM_000211.5(ITGB2):c.242C>G (p.Pro81Arg) rs2146538855
NM_000211.5(ITGB2):c.248G>A (p.Ser83Asn)
NM_000211.5(ITGB2):c.260C>T (p.Thr87Ile) rs754994927
NM_000211.5(ITGB2):c.263A>G (p.Gln88Arg)
NM_000211.5(ITGB2):c.281G>A (p.Gly94Asp) rs761719553
NM_000211.5(ITGB2):c.289C>A (p.Gln97Lys) rs2146538713
NM_000211.5(ITGB2):c.323G>A (p.Arg108Gln) rs550007417
NM_000211.5(ITGB2):c.328G>C (p.Gly110Arg) rs2084050156
NM_000211.5(ITGB2):c.347A>G (p.Asn116Ser) rs915995681
NM_000211.5(ITGB2):c.353C>T (p.Thr118Ile)
NM_000211.5(ITGB2):c.355T>G (p.Phe119Val)
NM_000211.5(ITGB2):c.377C>G (p.Pro126Arg) rs763505620
NM_000211.5(ITGB2):c.400G>T (p.Asp134Tyr) rs745917556
NM_000211.5(ITGB2):c.402C>G (p.Asp134Glu) rs1601310189
NM_000211.5(ITGB2):c.421G>C (p.Asp141His)
NM_000211.5(ITGB2):c.474C>A (p.Asn158Lys)
NM_000211.5(ITGB2):c.490G>A (p.Gly164Ser) rs770285096
NM_000211.5(ITGB2):c.493C>G (p.Arg165Gly) rs759935924
NM_000211.5(ITGB2):c.494G>A (p.Arg165His)
NM_000211.5(ITGB2):c.503T>C (p.Phe168Ser) rs2083962255
NM_000211.5(ITGB2):c.54G>A (p.Gly18=) rs372110619
NM_000211.5(ITGB2):c.555T>G (p.Asp185Glu) rs2083961139
NM_000211.5(ITGB2):c.589G>A (p.Glu197Lys) rs755393167
NM_000211.5(ITGB2):c.58G>A (p.Val20Ile) rs111663308
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
NM_000211.5(ITGB2):c.646C>G (p.Gln216Glu) rs976487831
NM_000211.5(ITGB2):c.662T>A (p.Val221Asp)
NM_000211.5(ITGB2):c.730G>A (p.Ala244Thr)
NM_000211.5(ITGB2):c.757C>A (p.Arg253Ser) rs772607011
NM_000211.5(ITGB2):c.757C>T (p.Arg253Cys)
NM_000211.5(ITGB2):c.758G>A (p.Arg253His) rs200423927
NM_000211.5(ITGB2):c.827G>A (p.Gly276Asp) rs1207286440
NM_000211.5(ITGB2):c.832A>T (p.Ile278Phe) rs2083934143
NM_000211.5(ITGB2):c.880A>G (p.Lys294Glu) rs2083933179
NM_000211.5(ITGB2):c.88G>A (p.Val30Ile) rs962637993
NM_000211.5(ITGB2):c.897+6T>C rs2083932728
NM_000211.5(ITGB2):c.898G>A (p.Asp300Asn)
NM_000211.5(ITGB2):c.932T>C (p.Leu311Pro) rs2083910472
NM_000211.5(ITGB2):c.974G>A (p.Arg325Lys)
NM_000211.5(ITGB2):c.979G>C (p.Val327Leu) rs753051803
NM_000211.5(ITGB2):c.991G>A (p.Glu331Lys)
NM_000231.2(SGCG):c.[800G>C;801T>C]
NM_000231.3(SGCG):c.*474AAGT[3] rs886050066
NM_000231.3(SGCG):c.*571_*576del rs886050067
NM_000231.3(SGCG):c.-1+5G>A
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.117T>G (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000231.3(SGCG):c.142G>C (p.Val48Leu) rs369936288
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.161C>A (p.Thr54Lys) rs886043940
NM_000231.3(SGCG):c.172C>A (p.Leu58Ile) rs752310028
NM_000231.3(SGCG):c.183G>A (p.Met61Ile) rs1288398934
NM_000231.3(SGCG):c.195+3A>G
NM_000231.3(SGCG):c.195+3A>T
NM_000231.3(SGCG):c.195+5G>A
NM_000231.3(SGCG):c.199G>A (p.Gly67Arg) rs1879239201
NM_000231.3(SGCG):c.217G>A (p.Val73Ile) rs763619480
NM_000231.3(SGCG):c.223A>G (p.Lys75Glu) rs2137545079
NM_000231.3(SGCG):c.229G>A (p.Gly77Arg)
NM_000231.3(SGCG):c.250T>A (p.Ser84Thr) rs1566011041
NM_000231.3(SGCG):c.256T>G (p.Phe86Val)
NM_000231.3(SGCG):c.274G>A (p.Ala92Thr) rs1566011069
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp) rs886044395
NM_000231.3(SGCG):c.284T>G (p.Ile95Arg)
NM_000231.3(SGCG):c.310C>A (p.Leu104Ile)
NM_000231.3(SGCG):c.317A>C (p.Gln106Pro) rs2137569326
NM_000231.3(SGCG):c.344C>A (p.Ala115Glu) rs774245371
NM_000231.3(SGCG):c.374G>A (p.Arg125Lys) rs2137569487
NM_000231.3(SGCG):c.379A>C (p.Lys127Gln)
NM_000231.3(SGCG):c.381A>G (p.Lys127=)
NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)
NM_000231.3(SGCG):c.386-9A>G
NM_000231.3(SGCG):c.386G>T (p.Gly129Val) rs866412938
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser) rs1451332880
NM_000231.3(SGCG):c.435C>A (p.Asn145Lys)
NM_000231.3(SGCG):c.438C>A (p.Asp146Glu) rs144497243
NM_000231.3(SGCG):c.44T>C (p.Ile15Thr) rs1877863268
NM_000231.3(SGCG):c.455C>A (p.Thr152Asn) rs201329880
NM_000231.3(SGCG):c.45A>G (p.Ile15Met) rs2137501268
NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)
NM_000231.3(SGCG):c.46G>C (p.Glu16Gln)
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys) rs770939408
NM_000231.3(SGCG):c.494T>C (p.Leu165Pro) rs2137617769
NM_000231.3(SGCG):c.504T>C (p.Thr168=) rs2137617795
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr) rs886042216
NM_000231.3(SGCG):c.529C>T (p.His177Tyr) rs375592456
NM_000231.3(SGCG):c.551T>G (p.Val184Gly) rs1593095374
NM_000231.3(SGCG):c.559G>A (p.Asp187Asn) rs886042075
NM_000231.3(SGCG):c.560A>G (p.Asp187Gly) rs2137644813
NM_000231.3(SGCG):c.563C>G (p.Pro188Arg)
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu) rs753806016
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.579-3C>T
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp) rs752669226
NM_000231.3(SGCG):c.595C>T (p.Arg199Trp)
NM_000231.3(SGCG):c.5T>C (p.Val2Ala)
NM_000231.3(SGCG):c.605G>C (p.Ser202Thr)
NM_000231.3(SGCG):c.607A>G (p.Met203Val) rs1883002488
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe) rs1883002814
NM_000231.3(SGCG):c.619A>G (p.Arg207Gly) rs1883003177
NM_000231.3(SGCG):c.636A>G (p.Gln212=) rs794727841
NM_000231.3(SGCG):c.643G>T (p.Ala215Ser)
NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
NM_000231.3(SGCG):c.662T>C (p.Leu221Pro) rs1883006449
NM_000231.3(SGCG):c.672G>T (p.Met224Ile) rs866525494
NM_000231.3(SGCG):c.703-1G>A
NM_000231.3(SGCG):c.703-1G>C rs1883152345
NM_000231.3(SGCG):c.705_706inv (p.Val236Met)
NM_000231.3(SGCG):c.714_719del (p.Asp238_Ala239del) rs1555248287
NM_000231.3(SGCG):c.740T>C (p.Leu247Pro) rs2137534069
NM_000231.3(SGCG):c.743T>C (p.Val248Ala)
NM_000231.3(SGCG):c.757G>A (p.Gly253Ser)
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)
NM_000231.3(SGCG):c.796G>T (p.Val266Leu) rs1555248300
NM_000231.3(SGCG):c.800_801delinsCC (p.Cys267Ser)
NM_000231.3(SGCG):c.815T>G (p.Leu272Arg)
NM_000231.3(SGCG):c.817T>A (p.Tyr273Asn) rs1883158469
NM_000231.3(SGCG):c.82A>C (p.Ile28Leu)
NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)
NM_000232.5(SGCB):c.110A>G (p.Asn37Ser) rs1156620837
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr) rs1553940680
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) rs768838951
NM_000232.5(SGCB):c.131A>G (p.Tyr44Cys)
NM_000232.5(SGCB):c.14C>T (p.Ala5Val) rs886158091
NM_000232.5(SGCB):c.166G>A (p.Gly56Arg)
NM_000232.5(SGCB):c.17C>T (p.Ala6Val) rs1414363052
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)
NM_000232.5(SGCB):c.241A>G (p.Ile81Val) rs1560568792
NM_000232.5(SGCB):c.243+1548T>C
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.244-3C>A rs2109372117
NM_000232.5(SGCB):c.26C>T (p.Ala9Val)
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.288C>G (p.Gly96=) rs2109372010
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.32A>G (p.Gln11Arg) rs2109380807
NM_000232.5(SGCB):c.33+3C>G
NM_000232.5(SGCB):c.33+4T>C
NM_000232.5(SGCB):c.34-3T>G rs794727241
NM_000232.5(SGCB):c.343G>C (p.Asp115His) rs1560567700
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.358C>T (p.His120Tyr)
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr) rs764749125
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.373A>T (p.Ser125Cys)
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
NM_000232.5(SGCB):c.379G>C (p.Val127Leu)
NM_000232.5(SGCB):c.396T>G (p.Asn132Lys)
NM_000232.5(SGCB):c.404T>G (p.Leu135Trp)
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp) rs1560567653
NM_000232.5(SGCB):c.432T>G (p.Ile144Met)
NM_000232.5(SGCB):c.434T>C (p.Val145Ala) rs1446053409
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser) rs1560568898
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
NM_000232.5(SGCB):c.474C>G (p.Asn158Lys) rs1412020365
NM_000232.5(SGCB):c.475A>G (p.Lys159Glu) rs2109371081
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
NM_000232.5(SGCB):c.491G>T (p.Ser164Ile)
NM_000232.5(SGCB):c.504_505delinsAG (p.Met168_Gln169delinsIleGlu) rs2109371031
NM_000232.5(SGCB):c.524C>A (p.Thr175Asn)
NM_000232.5(SGCB):c.533T>C (p.Ile178Thr) rs943840432
NM_000232.5(SGCB):c.569A>G (p.His190Arg)
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
NM_000232.5(SGCB):c.592T>G (p.Leu198Val)
NM_000232.5(SGCB):c.59A>C (p.Lys20Thr) rs2109376098
NM_000232.5(SGCB):c.602A>C (p.Gln201Pro) rs1560567321
NM_000232.5(SGCB):c.613A>C (p.Thr205Pro)
NM_000232.5(SGCB):c.626C>T (p.Thr209Ile) rs2109370086
NM_000232.5(SGCB):c.632A>G (p.Asn211Ser)
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
NM_000232.5(SGCB):c.64A>G (p.Met22Val)
NM_000232.5(SGCB):c.690A>C (p.Glu230Asp)
NM_000232.5(SGCB):c.691G>A (p.Gly231Ser)
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser) rs1578125133
NM_000232.5(SGCB):c.707G>A (p.Gly236Asp) rs1553940073
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
NM_000232.5(SGCB):c.725A>C (p.His242Pro) rs1553940064
NM_000232.5(SGCB):c.727A>G (p.Met243Val)
NM_000232.5(SGCB):c.729G>C (p.Met243Ile) rs2109369930
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000232.5(SGCB):c.758A>G (p.Asn253Ser) rs886044225
NM_000232.5(SGCB):c.768C>G (p.Ile256Met)
NM_000232.5(SGCB):c.797C>T (p.Thr266Ile)
NM_000232.5(SGCB):c.800G>T (p.Arg267Leu) rs114778658
NM_000232.5(SGCB):c.819T>G (p.Ser273Arg)
NM_000232.5(SGCB):c.821G>A (p.Gly274Glu) rs2110209607
NM_000232.5(SGCB):c.827A>T (p.Gln276Leu) rs1737022947
NM_000232.5(SGCB):c.846G>C (p.Trp282Cys)
NM_000232.5(SGCB):c.857del (p.Lys286fs) rs1553939681
NM_000232.5(SGCB):c.859del (p.Leu287fs) rs1553939675
NM_000232.5(SGCB):c.863G>T (p.Cys288Phe)
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
NM_000232.5(SGCB):c.892G>A (p.Val298Met) rs1560565822
NM_000232.5(SGCB):c.8C>A (p.Ala3Glu) rs1578130059
NM_000232.5(SGCB):c.901A>G (p.Thr301Ala) rs1578123128
NM_000232.5(SGCB):c.908A>G (p.Gln303Arg)
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000232.5(SGCB):c.929C>T (p.Ser310Leu) rs779083146
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428
NM_000243.3(MEFV):c.*169C>T rs558576646
NM_000243.3(MEFV):c.*190G>C rs114930858
NM_000243.3(MEFV):c.*292C>G rs560496227
NM_000243.3(MEFV):c.*394C>T rs1017341912
NM_000243.3(MEFV):c.*761C>G rs281865551
NM_000243.3(MEFV):c.*779del rs60407399
NM_000243.3(MEFV):c.*818A>C rs886051965
NM_000243.3(MEFV):c.*959T>C rs896051894
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1004C>A (p.Pro335His)
NM_000243.3(MEFV):c.1005C>T (p.Pro335=) rs567739580
NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg) rs1959002154
NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu)
NM_000243.3(MEFV):c.1029G>T (p.Gln343His) rs1959001872
NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser)
NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu)
NM_000243.3(MEFV):c.1075C>A (p.His359Asn) rs2141671836
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.10A>G (p.Thr4Ala)
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1108dup (p.Gln370fs) rs1214124340
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro) rs1218172738
NM_000243.3(MEFV):c.1117C>T (p.Pro373Ser) rs1567234649
NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg) rs1009404209
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) rs896909303
NM_000243.3(MEFV):c.1141C>G (p.Gln381Glu)
NM_000243.3(MEFV):c.1141C>T (p.Gln381Ter)
NM_000243.3(MEFV):c.1143G>C (p.Gln381His)
NM_000243.3(MEFV):c.1207G>A (p.Glu403Lys)
NM_000243.3(MEFV):c.1212C>A (p.His404Gln) rs561866815
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) rs1958996963
NM_000243.3(MEFV):c.1255C>A (p.His419Asn) rs2141671598
NM_000243.3(MEFV):c.1265A>G (p.Lys422Arg) rs1958989238
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser)
NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp)
NM_000243.3(MEFV):c.1297C>G (p.Leu433Val) rs1596354307
NM_000243.3(MEFV):c.1301_1302dup (p.Lys435fs) rs2141671176
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln) rs1958988591
NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs)
NM_000243.3(MEFV):c.130C>T (p.Gln44Ter) rs1172820862
NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn)
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr)
NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp)
NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro)
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1412A>C (p.Tyr471Ser)
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)
NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp)
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu)
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1441G>T (p.Val481Leu) rs1487427766
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp) rs1596352746
NM_000243.3(MEFV):c.1465C>T (p.Gln489Ter) rs1958954245
NM_000243.3(MEFV):c.1469T>C (p.Met490Thr) rs2141669073
NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile)
NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.3(MEFV):c.1530T>A (p.Asp510Glu) rs224206
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.3(MEFV):c.1552G>A (p.Ala518Thr) rs2141668949
NM_000243.3(MEFV):c.1587+5G>A rs1555458661
NM_000243.3(MEFV):c.1587+5G>T rs1555458661
NM_000243.3(MEFV):c.1610+5_1610+6insACCT
NM_000243.3(MEFV):c.1619_1620del (p.Thr540fs) rs1958911254
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) rs1958911016
NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg)
NM_000243.3(MEFV):c.163A>G (p.Thr55Ala)
NM_000243.3(MEFV):c.1648C>G (p.Pro550Ala) rs2141666419
NM_000243.3(MEFV):c.1651C>G (p.Gln551Glu)
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
NM_000243.3(MEFV):c.1664A>C (p.Gln555Pro) rs1958910539
NM_000243.3(MEFV):c.1668G>C (p.Lys556Asn) rs1567232255
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) rs1033941048
NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly)
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser) rs1057516210
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile) rs1057516210
NM_000243.3(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.1759+1G>T rs876660996
NM_000243.3(MEFV):c.1760-1G>T
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) rs141706767
NM_000243.3(MEFV):c.1793-2A>C rs2141665238
NM_000243.3(MEFV):c.181T>A (p.Tyr61Asn) rs768043268
NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys)
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe) rs1332372034
NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn)
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn) rs766576175
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) rs967990798
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.3(MEFV):c.1933T>C (p.Ser645Pro) rs2141665051
NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu) rs2141665045
NM_000243.3(MEFV):c.1945C>G (p.Leu649Val) rs2141665039
NM_000243.3(MEFV):c.1955G>A (p.Arg652His)
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) rs375716505
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.3(MEFV):c.1969G>A (p.Val657Met) rs1958892149
NM_000243.3(MEFV):c.1969G>C (p.Val657Leu)
NM_000243.3(MEFV):c.196G>A (p.Ala66Thr)
NM_000243.3(MEFV):c.1991C>T (p.Ala664Val) rs2141664988
NM_000243.3(MEFV):c.1A>C (p.Met1Leu)
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) rs1959115695
NM_000243.3(MEFV):c.2020A>G (p.Ile674Val) rs1958891209
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg) rs771759703
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp) rs375378545
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2068G>A (p.Val690Met)
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu) rs1281153557
NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val) rs1596350035
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys) rs1596350022
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.3(MEFV):c.2089A>C (p.Asn697His)
NM_000243.3(MEFV):c.209C>G (p.Thr70Ser) rs775224100
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met) rs1596349932
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val) rs1023300125
NM_000243.3(MEFV):c.2164G>C (p.Val722Leu)
NM_000243.3(MEFV):c.2164G>T (p.Val722Leu) rs104895201
NM_000243.3(MEFV):c.2177T>G (p.Val726Gly)
NM_000243.3(MEFV):c.217G>A (p.Val73Ile) rs2141679452
NM_000243.3(MEFV):c.2194T>C (p.Tyr732His)
NM_000243.3(MEFV):c.2204C>T (p.Thr735Ile) rs1958885115
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro) rs61732874
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly) rs1407457811
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr) rs104895171
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter)
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser) rs774807554
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg) rs2141664466
NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala)
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) rs757708595
NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala) rs1479429941
NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)
NM_000243.3(MEFV):c.2330dup (p.Gln778fs) rs1596349724
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter) rs1366885918
NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg) rs2141664404
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) rs150819742
NM_000243.3(MEFV):c.252G>C (p.Glu84Asp)
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.261del (p.His87fs) rs1959114310
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) rs376971129
NM_000243.3(MEFV):c.268_271del (p.Ala90fs)
NM_000243.3(MEFV):c.277+1G>A
NM_000243.3(MEFV):c.277+1G>T rs1328913013
NM_000243.3(MEFV):c.277+4A>C
NM_000243.3(MEFV):c.283T>C (p.Ser95Pro) rs1463263180
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) rs772332566
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.334G>A (p.Glu112Lys) rs1185925415
NM_000243.3(MEFV):c.340A>C (p.Lys114Gln) rs1252844849
NM_000243.3(MEFV):c.340A>G (p.Lys114Glu) rs1252844849
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.343C>T (p.Pro115Ser)
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn) rs1000657059
NM_000243.3(MEFV):c.35C>T (p.Thr12Ile)
NM_000243.3(MEFV):c.367C>G (p.His123Asp) rs1959090836
NM_000243.3(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.377G>A (p.Gly126Glu)
NM_000243.3(MEFV):c.378G>T (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.382G>A (p.Glu128Lys)
NM_000243.3(MEFV):c.383A>T (p.Glu128Val) rs201172310
NM_000243.3(MEFV):c.385G>A (p.Gly129Arg) rs1344302872
NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys) rs780976880
NM_000243.3(MEFV):c.392G>A (p.Gly131Asp) rs1959090165
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu) rs1959090017
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter) rs766323718
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.409G>A (p.Gly137Ser) rs895839095
NM_000243.3(MEFV):c.410del (p.Gly137fs) rs767006697
NM_000243.3(MEFV):c.411_412insT (p.Gly138fs) rs758874425
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser) rs1567237666
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.3(MEFV):c.433A>C (p.Ser145Arg) rs2141677519
NM_000243.3(MEFV):c.434G>C (p.Ser145Thr) rs1342434040
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) rs876660991
NM_000243.3(MEFV):c.442G>A (p.Glu148Lys) rs3743930
NM_000243.3(MEFV):c.450del (p.Arg151fs) rs2141677468
NM_000243.3(MEFV):c.451A>T (p.Arg151Trp)
NM_000243.3(MEFV):c.454G>C (p.Gly152Arg) rs1266119651
NM_000243.3(MEFV):c.455G>C (p.Gly152Ala)
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.3(MEFV):c.481C>G (p.Arg161Gly)
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.3(MEFV):c.490A>T (p.Lys164Ter) rs1306636942
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.3(MEFV):c.523C>T (p.Pro175Ser)
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln) rs104895134
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.547C>T (p.Pro183Ser)
NM_000243.3(MEFV):c.548C>G (p.Pro183Arg)
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000243.3(MEFV):c.564C>G (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) rs761993422
NM_000243.3(MEFV):c.568C>T (p.Pro190Ser) rs1959085571
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr) rs876660994
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.585G>T (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.587G>C (p.Gly196Ala)
NM_000243.3(MEFV):c.597dup (p.Glu200fs) rs1567237352
NM_000243.3(MEFV):c.5C>G (p.Ala2Gly) rs200148051
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.3(MEFV):c.611G>T (p.Arg204Leu) rs775663363
NM_000243.3(MEFV):c.61T>C (p.Phe21Leu)
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.629C>G (p.Ala210Gly)
NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)
NM_000243.3(MEFV):c.63C>A (p.Phe21Leu)
NM_000243.3(MEFV):c.65del (p.Glu22fs) rs747811800
NM_000243.3(MEFV):c.664G>C (p.Gly222Arg) rs772938936
NM_000243.3(MEFV):c.682C>T (p.Pro228Ser) rs1596358139
NM_000243.3(MEFV):c.683C>T (p.Pro228Leu)
NM_000243.3(MEFV):c.686T>G (p.Phe229Cys) rs1959082299
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.688G>T (p.Glu230Ter) rs104895080
NM_000243.3(MEFV):c.711G>T (p.Lys237Asn) rs1053594972
NM_000243.3(MEFV):c.718C>G (p.Pro240Ala)
NM_000243.3(MEFV):c.718C>T (p.Pro240Ser) rs1310144955
NM_000243.3(MEFV):c.721A>G (p.Arg241Gly)
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
NM_000243.3(MEFV):c.739A>G (p.Ile247Val) rs1472692347
NM_000243.3(MEFV):c.744_745delinsCT (p.Thr249Ser) rs2141676883
NM_000243.3(MEFV):c.749G>C (p.Gly250Ala)
NM_000243.3(MEFV):c.74A>G (p.Lys25Arg)
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.760C>T (p.Pro254Ser)
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000243.3(MEFV):c.766A>G (p.Asn256Asp) rs1567237118
NM_000243.3(MEFV):c.778C>A (p.Leu260Ile)
NM_000243.3(MEFV):c.790G>A (p.Glu264Lys) rs1332262848
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
NM_000243.3(MEFV):c.803C>A (p.Ala268Asp) rs104895123
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter) rs876660995
NM_000243.3(MEFV):c.836C>T (p.Ala279Val) rs1596357961
NM_000243.3(MEFV):c.847C>G (p.Pro283Ala)
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.854G>C (p.Gly285Ala)
NM_000243.3(MEFV):c.857G>C (p.Gly286Ala) rs1959078224
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.3(MEFV):c.868G>A (p.Asp290Asn)
NM_000243.3(MEFV):c.881G>T (p.Gly294Val) rs1959077891
NM_000243.3(MEFV):c.884dup (p.Gly296fs) rs1301893365
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000243.3(MEFV):c.908C>T (p.Thr303Ile)
NM_000243.3(MEFV):c.909C>A (p.Thr303=) rs1429025477
NM_000243.3(MEFV):c.916C>G (p.Pro306Ala)
NM_000243.3(MEFV):c.916C>T (p.Pro306Ser) rs906390314
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His) rs1085307824
NM_000243.3(MEFV):c.943T>C (p.Cys315Arg)
NM_000243.3(MEFV):c.949G>A (p.Ala317Thr)
NM_000243.3(MEFV):c.94A>T (p.Ser32Cys) rs1959117976
NM_000243.3(MEFV):c.963C>A (p.Asp321Glu) rs771969495
NM_000243.3(MEFV):c.965C>G (p.Pro322Arg)
NM_000243.3(MEFV):c.967G>C (p.Val323Leu)
NM_000243.3(MEFV):c.973G>C (p.Gly325Arg) rs146862274
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.105G>T (p.Met35Ile)
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1250G>A (p.Arg417Gln) rs2116780504
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1427A>T (p.His476Leu)
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1597C>A (p.Pro533Thr) rs1793422040
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr) rs769073123
NM_000245.4(MET):c.184A>G (p.Ile62Val)
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.191T>C (p.Leu64Pro)
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.200C>A (p.Thr67Asn)
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.229G>A (p.Asp77Asn) rs372320153
NM_000245.4(MET):c.2375A>C (p.His792Pro) rs980467681
NM_000245.4(MET):c.2375A>G (p.His792Arg) rs980467681
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554
NM_000245.4(MET):c.2528C>T (p.Pro843Leu) rs762228405
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2588A>G (p.Asn863Ser) rs1794766796
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
NM_000245.4(MET):c.2662C>G (p.His888Asp) rs115574135
NM_000245.4(MET):c.2821A>G (p.Ile941Val)
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.2960G>A (p.Arg987Gln) rs910937816
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3212T>C (p.Ile1071Thr)
NM_000245.4(MET):c.3307A>G (p.Lys1103Glu)
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3493C>T (p.Leu1165Phe)
NM_000245.4(MET):c.3520C>T (p.His1174Tyr) rs1795074297
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
NM_000245.4(MET):c.38T>C (p.Val13Ala)
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu) rs755043272
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4055T>A (p.Val1352Glu)
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu) rs1795661591
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.803C>A (p.Thr268Asn)
NM_000245.4(MET):c.803C>G (p.Thr268Ser)
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
NM_000245.4(MET):c.949C>A (p.Leu317Ile) rs750531377
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) rs1322031909
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) rs2103148829
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) rs2103149012
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) rs143088011
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) rs2103166386
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) rs1572261571
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) rs1663828645
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
NM_000254.3(MTR):c.1695+6T>C
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
NM_000254.3(MTR):c.1953+3A>G rs781246271
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) rs1664416870
NM_000254.3(MTR):c.1986G>T (p.Gln662His) rs1664418343
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) rs150058137
NM_000254.3(MTR):c.2044-1G>T
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
NM_000254.3(MTR):c.2196+5G>A rs2103301889
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000254.3(MTR):c.2282T>A (p.Leu761His) rs1664590593
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
NM_000254.3(MTR):c.2304+3A>C rs1572283994
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) rs968363996
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) rs2103313543
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) rs760932771
NM_000254.3(MTR):c.2472A>T (p.Ala824=) rs1665277178
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) rs2147881808
NM_000254.3(MTR):c.2594+1_2594+36dup
NM_000254.3(MTR):c.2594+5G>A
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) rs1553326540
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
NM_000254.3(MTR):c.271G>C (p.Asp91His)
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) rs977928036
NM_000254.3(MTR):c.2775+4A>G
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) rs779579945
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
NM_000254.3(MTR):c.3008-3T>C rs1286783552
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) rs1666296405
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) rs2147939390
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) rs1572341910
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) rs1666303969
NM_000254.3(MTR):c.3205-9G>A rs1666501324
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) rs1666504883
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) rs1221565565
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) rs1666509852
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) rs1305962485
NM_000254.3(MTR):c.33C>T (p.Pro11=)
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
NM_000254.3(MTR):c.349A>C (p.Met117Leu) rs143180799
NM_000254.3(MTR):c.349A>G (p.Met117Val) rs143180799
NM_000254.3(MTR):c.35-20A>G
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) rs756440911
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) rs778432496
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) rs2147955084
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) rs2147961173
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) rs2147965312
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) rs2103039190
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
NM_000254.3(MTR):c.761T>A (p.Leu254His) rs2103062352
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) rs1039659576
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) rs2103101092
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) rs766371534
NM_000254.3(MTR):c.907A>G (p.Met303Val)
NM_000260.4(MYO7A):c.*416C>T rs549702559
NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val) rs1565349265
NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro) rs797033992
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=) rs1952856251
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu) rs201491278
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1165G>A (p.Glu389Lys) rs782227657
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro) rs1226538179
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=) rs557165173
NM_000260.4(MYO7A):c.1213C>T (p.Arg405Trp) rs375745526
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) rs886048673
NM_000260.4(MYO7A):c.132+6T>C rs781852295
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-7C>G rs886048674
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) rs886048675
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) rs886048669
NM_000260.4(MYO7A):c.156C>T (p.Asn52=) rs886048669
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr) rs781843594
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser) rs782043663
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=) rs781881163
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1723G>A (p.Gly575Arg) rs782154632
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe) rs1953517239
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) rs782412089
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu) rs111033416
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) rs1555078826
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His) rs41298143
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) rs1555078946
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=) rs782026699
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu) rs368575149
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro) rs781991817
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) rs1954489249
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser) rs190624231
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) rs782176754
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) rs782176754
NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) rs778880077
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His) rs533027065
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro) rs533027065
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His) rs782428224
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr) rs1591374351
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=) rs1955078498
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu) rs782227741
NM_000260.4(MYO7A):c.2717G>T (p.Arg906Leu) rs868977760
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2746A>G (p.Lys916Glu) rs1555084090
NM_000260.4(MYO7A):c.2758C>G (p.Arg920Gly) rs373089701
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) rs536410625
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) rs782192026
NM_000260.4(MYO7A):c.3109-15C>T rs369729874
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3193A>G (p.Ser1065Gly) rs763798045
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys) rs1955328510
NM_000260.4(MYO7A):c.3229A>T (p.Thr1077Ser) rs1555085543
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg) rs375050157
NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val) rs1591386678
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=) rs1555087287
NM_000260.4(MYO7A):c.3503+8C>A rs1955532068
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.358C>T (p.Arg120Cys) rs397516302
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) rs782694195
NM_000260.4(MYO7A):c.3607G>T (p.Ala1203Ser) rs568301918
NM_000260.4(MYO7A):c.3631-6C>A rs1047678585
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys) rs776862829
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3751-14T>C rs1955994846
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) rs749747871
NM_000260.4(MYO7A):c.388A>G (p.Met130Val) rs782473441
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu) rs375475374
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) rs1952429583
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) rs2135575353
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu) rs1956138822
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4075G>A (p.Glu1359Lys) rs753672693
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met) rs774773009
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) rs886048677
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-7C>G rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) rs727504594
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=) rs1591438864
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys) rs377391891
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) rs538178875
NM_000260.4(MYO7A):c.4327A>C (p.Ile1443Leu) rs762660033
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4351G>T (p.Ala1451Ser) rs754360346
NM_000260.4(MYO7A):c.4379G>C (p.Ser1460Thr) rs746713762
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) rs1956761416
NM_000260.4(MYO7A):c.4465G>A (p.Val1489Ile) rs1265094428
NM_000260.4(MYO7A):c.4592T>C (p.Leu1531Pro) rs1956914595
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=) rs762011600
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) rs886048678
NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe) rs773381538
NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val)
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) rs759430551
NM_000260.4(MYO7A):c.4759G>T (p.Ala1587Ser) rs1956929954
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys) rs1181067492
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu) rs1956933257
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp) rs1265861779
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.4940G>C (p.Gly1647Ala) rs1957063555
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=) rs1957064908
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) rs1957069970
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) rs766461538
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) rs886048679
NM_000260.4(MYO7A):c.5043+3A>G
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) rs1295009131
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg) rs1957120301
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) rs886048680
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=) rs1486805195
NM_000260.4(MYO7A):c.5131C>G (p.Pro1711Ala)
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys) rs1236207116
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) rs886048681
NM_000260.4(MYO7A):c.5221A>G (p.Lys1741Glu) rs1957185407
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.5324T>A (p.Ile1775Asn) rs115123584
NM_000260.4(MYO7A):c.5327-10C>G rs781062618
NM_000260.4(MYO7A):c.5327-5C>G rs1957264472
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) rs1957274964
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) rs1957277819
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=) rs910989813
NM_000260.4(MYO7A):c.5458C>G (p.Gln1820Glu) rs369973293
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=) rs748080151
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5589C>T (p.His1863=) rs727504024
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) rs886048672
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp) rs1957511416
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn) rs1188616455
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe) rs1957516566
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=) rs1957519037
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly) rs376764423
NM_000260.4(MYO7A):c.5945-9G>C rs1233077552
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) rs377517717
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) rs1957642204
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile) rs1957644487
NM_000260.4(MYO7A):c.6044A>G (p.Tyr2015Cys) rs2135762121
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=) rs1957653909
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp) rs1957846244
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=) rs727504834
NM_000260.4(MYO7A):c.6280G>C (p.Glu2094Gln) rs887599531
NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) rs2135791193
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu) rs1957914664
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=) rs1307826366
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del) rs539755538
NM_000260.4(MYO7A):c.639C>G (p.Phe213Leu) rs540197003
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg) rs1957976673
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) rs1408119204
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) rs1555111106
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) rs1591515086
NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) rs1382157968
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe) rs397516333
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) rs782636303
NM_000260.4(MYO7A):c.843G>A (p.Leu281=) rs1555064274
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly) rs1952692105
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000260.4(MYO7A):c.[3256del;3260T>C]
NM_000260.4(MYO7A):c.[3784G>A;5086C>T]
NM_000271.5(NPC1):c.*109T>G rs188980155
NM_000271.5(NPC1):c.*129T>G rs2058528928
NM_000271.5(NPC1):c.*161C>T rs2058527793
NM_000271.5(NPC1):c.*327C>T rs2058522612
NM_000271.5(NPC1):c.*328A>C rs1326365719
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.*485dup rs757215027
NM_000271.5(NPC1):c.*500A>G rs886053662
NM_000271.5(NPC1):c.-116C>G rs574376933
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.1009C>T (p.Arg337Trp)
NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro)
NM_000271.5(NPC1):c.1019C>G (p.Thr340Arg)
NM_000271.5(NPC1):c.1021C>T (p.Arg341Cys)
NM_000271.5(NPC1):c.1022G>C (p.Arg341Pro) rs370181667
NM_000271.5(NPC1):c.1024T>C (p.Trp342Arg) rs2145458077
NM_000271.5(NPC1):c.1034T>C (p.Phe345Ser) rs1303376855
NM_000271.5(NPC1):c.1043G>A (p.Arg348Gln)
NM_000271.5(NPC1):c.104A>T (p.Tyr35Phe)
NM_000271.5(NPC1):c.1069T>G (p.Ser357Ala)
NM_000271.5(NPC1):c.106G>A (p.Gly36Arg) rs2059232891
NM_000271.5(NPC1):c.1089G>T (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.1094C>T (p.Ser365Leu)
NM_000271.5(NPC1):c.1103T>C (p.Leu368Pro)
NM_000271.5(NPC1):c.1126A>G (p.Asn376Asp)
NM_000271.5(NPC1):c.1129C>T (p.Pro377Ser)
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) rs1555637157
NM_000271.5(NPC1):c.1172A>C (p.Glu391Ala)
NM_000271.5(NPC1):c.1190A>G (p.Gln397Arg)
NM_000271.5(NPC1):c.1208T>C (p.Phe403Ser)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.1231C>T (p.Arg411Trp)
NM_000271.5(NPC1):c.1247A>G (p.Asp416Gly)
NM_000271.5(NPC1):c.1248C>G (p.Asp416Glu) rs2145455839
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu) rs2058949363
NM_000271.5(NPC1):c.1268A>G (p.Tyr423Cys)
NM_000271.5(NPC1):c.1280C>G (p.Ala427Gly)
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg) rs2145455455
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) rs774333145
NM_000271.5(NPC1):c.1304T>C (p.Leu435Pro)
NM_000271.5(NPC1):c.1306G>A (p.Asp436Asn) rs1294804263
NM_000271.5(NPC1):c.1309A>G (p.Ile437Val) rs2145455256
NM_000271.5(NPC1):c.1312C>A (p.Gln438Lys)
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) rs764171713
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.1333G>T (p.Asp445Tyr) rs2145448490
NM_000271.5(NPC1):c.1346C>T (p.Ala449Val)
NM_000271.5(NPC1):c.1361C>T (p.Thr454Ile)
NM_000271.5(NPC1):c.1367C>T (p.Ser456Phe) rs374159264
NM_000271.5(NPC1):c.137G>A (p.Gly46Asp) rs1425737401
NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile) rs2058928378
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser) rs2058927956
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro) rs2145447843
NM_000271.5(NPC1):c.1424A>G (p.Tyr475Cys)
NM_000271.5(NPC1):c.1453T>G (p.Leu485Val)
NM_000271.5(NPC1):c.1475A>G (p.His492Arg)
NM_000271.5(NPC1):c.1483C>G (p.Leu495Val) rs1598973224
NM_000271.5(NPC1):c.1490A>G (p.His497Arg) rs2145447292
NM_000271.5(NPC1):c.1495A>G (p.Lys499Glu) rs2145447268
NM_000271.5(NPC1):c.149C>T (p.Pro50Leu)
NM_000271.5(NPC1):c.1506CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1522G>A (p.Asp508Asn)
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp) rs763680535
NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser)
NM_000271.5(NPC1):c.1561G>A (p.Ala521Thr) rs138184115
NM_000271.5(NPC1):c.1580G>A (p.Ser527Asn)
NM_000271.5(NPC1):c.1607C>T (p.Thr536Met)
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) rs747310316
NM_000271.5(NPC1):c.1621G>A (p.Val541Met) rs2058874338
NM_000271.5(NPC1):c.1653T>C (p.Asp551=)
NM_000271.5(NPC1):c.1654+15C>G rs753138623
NM_000271.5(NPC1):c.1654G>T (p.Asp552Tyr) rs2145433031
NM_000271.5(NPC1):c.1684G>A (p.Val562Met) rs1476758898
NM_000271.5(NPC1):c.1686G>A (p.Val562=) rs1555635272
NM_000271.5(NPC1):c.169G>A (p.Asp57Asn)
NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp) rs2058813808
NM_000271.5(NPC1):c.1745C>A (p.Ala582Asp)
NM_000271.5(NPC1):c.1757+3G>T
NM_000271.5(NPC1):c.175G>A (p.Val59Met)
NM_000271.5(NPC1):c.175G>T (p.Val59Leu) rs1365313736
NM_000271.5(NPC1):c.1783A>G (p.Lys595Glu) rs2145406160
NM_000271.5(NPC1):c.1784A>C (p.Lys595Thr)
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.1804T>C (p.Ser602Pro)
NM_000271.5(NPC1):c.1820G>A (p.Arg607Gln)
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1856G>A (p.Ser619Asn) rs992289027
NM_000271.5(NPC1):c.1870G>C (p.Val624Leu)
NM_000271.5(NPC1):c.1900T>A (p.Tyr634Asn)
NM_000271.5(NPC1):c.1925T>C (p.Met642Thr) rs1342552552
NM_000271.5(NPC1):c.1941G>C (p.Arg647Ser)
NM_000271.5(NPC1):c.1943T>C (p.Leu648Pro)
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>C rs886053666
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+6_1947+7del rs2058767020
NM_000271.5(NPC1):c.1955C>T (p.Ser652Leu)
NM_000271.5(NPC1):c.1972A>G (p.Ile658Val)
NM_000271.5(NPC1):c.1975G>A (p.Ala659Thr)
NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) rs1555634490
NM_000271.5(NPC1):c.1984T>A (p.Leu662Met)
NM_000271.5(NPC1):c.198C>A (p.Phe66Leu)
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del) rs1555641909
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) rs1555634452
NM_000271.5(NPC1):c.2027G>C (p.Ser676Thr) rs2145400163
NM_000271.5(NPC1):c.2044T>A (p.Leu682Met)
NM_000271.5(NPC1):c.2053A>G (p.Ile685Val) rs1310067072
NM_000271.5(NPC1):c.2059A>G (p.Ile687Val) rs2058754612
NM_000271.5(NPC1):c.2079G>A (p.Leu693=) rs2058754303
NM_000271.5(NPC1):c.208A>T (p.Asn70Tyr) rs2145544807
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.5(NPC1):c.2102_2103inv (p.Asn701Ser)
NM_000271.5(NPC1):c.2117T>C (p.Val706Ala)
NM_000271.5(NPC1):c.2126A>C (p.Tyr709Ser)
NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe)
NM_000271.5(NPC1):c.2130+5A>G
NM_000271.5(NPC1):c.2150G>A (p.Gly717Glu)
NM_000271.5(NPC1):c.2161G>A (p.Asp721Asn)
NM_000271.5(NPC1):c.217C>T (p.Leu73Phe)
NM_000271.5(NPC1):c.2197C>A (p.Pro733Thr)
NM_000271.5(NPC1):c.2198C>T (p.Pro733Leu)
NM_000271.5(NPC1):c.2222C>T (p.Ser741Phe)
NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) rs1555634202
NM_000271.5(NPC1):c.2228C>T (p.Thr743Ile)
NM_000271.5(NPC1):c.2241C>G (p.Phe747Leu)
NM_000271.5(NPC1):c.2281T>A (p.Ser761Thr)
NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly) rs748589476
NM_000271.5(NPC1):c.2309T>C (p.Ile770Thr) rs2145382914
NM_000271.5(NPC1):c.2330C>T (p.Thr777Ile) rs750232059
NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu) rs1555633722
NM_000271.5(NPC1):c.2338G>A (p.Val780Met)
NM_000271.5(NPC1):c.2351G>C (p.Gly784Ala)
NM_000271.5(NPC1):c.2360T>C (p.Ile787Thr)
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2373+4A>G
NM_000271.5(NPC1):c.2380C>T (p.Arg794Trp)
NM_000271.5(NPC1):c.2384T>C (p.Leu795Pro) rs1414231528
NM_000271.5(NPC1):c.23T>G (p.Leu8Arg) rs1012718245
NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln) rs775077140
NM_000271.5(NPC1):c.2417A>G (p.Asp806Gly) rs1825611761
NM_000271.5(NPC1):c.2426G>C (p.Ser809Thr) rs769133876
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2431C>G (p.Gln811Glu) rs2058707982
NM_000271.5(NPC1):c.2432A>G (p.Gln811Arg) rs2145381038
NM_000271.5(NPC1):c.2440G>A (p.Glu814Lys)
NM_000271.5(NPC1):c.2445C>A (p.Ser815Arg) rs767708998
NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser) rs762226042
NM_000271.5(NPC1):c.2455C>T (p.Arg819Cys)
NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro) rs2145380651
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val) rs756239485
NM_000271.5(NPC1):c.2509A>T (p.Ile837Phe) rs756239485
NM_000271.5(NPC1):c.2511T>G (p.Ile837Met) rs369793282
NM_000271.5(NPC1):c.2514+4T>G
NM_000271.5(NPC1):c.2517A>G (p.Ile839Met)
NM_000271.5(NPC1):c.2527G>T (p.Val843Leu)
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000271.5(NPC1):c.2603A>T (p.Asp868Val)
NM_000271.5(NPC1):c.2604+3A>G
NM_000271.5(NPC1):c.2604+8_2604+71del rs2058696209
NM_000271.5(NPC1):c.2614A>T (p.Met872Leu)
NM_000271.5(NPC1):c.2630A>C (p.Lys877Thr) rs773177148
NM_000271.5(NPC1):c.2638A>C (p.Ser880Arg) rs2145374045
NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys)
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val) rs769193340
NM_000271.5(NPC1):c.2674G>A (p.Val892Ile)
NM_000271.5(NPC1):c.2699C>G (p.Thr900Ser)
NM_000271.5(NPC1):c.271C>G (p.Leu91Val) rs773809600
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
NM_000271.5(NPC1):c.2734A>G (p.Met912Val) rs746398811
NM_000271.5(NPC1):c.2756T>A (p.Leu919Gln)
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val) rs2058687030
NM_000271.5(NPC1):c.2779G>A (p.Ala927Thr)
NM_000271.5(NPC1):c.2798C>T (p.Thr933Ile) rs752107020
NM_000271.5(NPC1):c.27CCT[2] (p.Leu15del) rs1555645598
NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu) rs786204714
NM_000271.5(NPC1):c.2812G>A (p.Ala938Thr)
NM_000271.5(NPC1):c.2836T>A (p.Tyr946Asn)
NM_000271.5(NPC1):c.2858A>G (p.Gln953Arg)
NM_000271.5(NPC1):c.286A>G (p.Arg96Gly)
NM_000271.5(NPC1):c.287+5G>C rs2145544311
NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr) rs2145370245
NM_000271.5(NPC1):c.2910A>G (p.Ser970=)
NM_000271.5(NPC1):c.2911+6T>A
NM_000271.5(NPC1):c.2911G>A (p.Val971Met) rs928977082
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.2913G>A (p.Val971=)
NM_000271.5(NPC1):c.2929G>A (p.Val977Ile)
NM_000271.5(NPC1):c.2950C>G (p.Pro984Ala)
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.2973G>C (p.Gln991His) rs201118975
NM_000271.5(NPC1):c.2973G>T (p.Gln991His)
NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) rs1555632958
NM_000271.5(NPC1):c.2991A>T (p.Arg997Ser) rs2145366523
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3003G>A (p.Met1001Ile) rs2145366464
NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) rs1555632941
NM_000271.5(NPC1):c.3053C>T (p.Ala1018Val) rs2145358077
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr) rs2058638089
NM_000271.5(NPC1):c.3086A>G (p.His1029Arg) rs747201863
NM_000271.5(NPC1):c.310C>A (p.Leu104Ile) rs2145527400
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3138G>T (p.Gln1046His) rs1385614579
NM_000271.5(NPC1):c.3152T>C (p.Phe1051Ser)
NM_000271.5(NPC1):c.316A>G (p.Asn106Asp) rs2145527323
NM_000271.5(NPC1):c.3176G>A (p.Arg1059Gln)
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met) rs967206412
NM_000271.5(NPC1):c.3199G>A (p.Glu1067Lys)
NM_000271.5(NPC1):c.31C>G (p.Leu11Val)
NM_000271.5(NPC1):c.3203C>G (p.Thr1068Ser) rs754323286
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile) rs754323286
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) rs1567946736
NM_000271.5(NPC1):c.3215A>G (p.Asn1072Ser)
NM_000271.5(NPC1):c.3229C>G (p.Arg1077Gly) rs750095738
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3283A>G (p.Ile1095Val) rs2145351761
NM_000271.5(NPC1):c.3284T>C (p.Ile1095Thr)
NM_000271.5(NPC1):c.328G>C (p.Glu110Gln) rs2145527241
NM_000271.5(NPC1):c.3291C>G (p.Asp1097Glu)
NM_000271.5(NPC1):c.3293C>A (p.Thr1098Asn) rs746285672
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile) rs746285672
NM_000271.5(NPC1):c.3295A>G (p.Ile1099Val)
NM_000271.5(NPC1):c.3302A>G (p.Asn1101Ser)
NM_000271.5(NPC1):c.3318G>A (p.Leu1106=)
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3322G>A (p.Ala1108Thr)
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
NM_000271.5(NPC1):c.3340A>G (p.Met1114Val)
NM_000271.5(NPC1):c.3350T>A (p.Leu1117Gln)
NM_000271.5(NPC1):c.3356G>A (p.Cys1119Tyr) rs2058617380
NM_000271.5(NPC1):c.335C>T (p.Thr112Ile)
NM_000271.5(NPC1):c.3373G>T (p.Val1125Phe)
NM_000271.5(NPC1):c.3376A>C (p.Ile1126Leu)
NM_000271.5(NPC1):c.3380T>C (p.Met1127Thr)
NM_000271.5(NPC1):c.3381G>A (p.Met1127Ile) rs2145350601
NM_000271.5(NPC1):c.3406G>A (p.Val1136Ile)
NM_000271.5(NPC1):c.3410A>G (p.Asn1137Ser)
NM_000271.5(NPC1):c.3413T>C (p.Met1138Thr)
NM_000271.5(NPC1):c.3419G>T (p.Gly1140Val) rs2058616184
NM_000271.5(NPC1):c.3436G>A (p.Gly1146Ser)
NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys) rs34715591
NM_000271.5(NPC1):c.3454G>A (p.Val1152Ile)
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.3476T>C (p.Met1159Thr)
NM_000271.5(NPC1):c.3478-3C>T rs2145344067
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.347G>A (p.Arg116Gln)
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3511A>G (p.Ile1171Val)
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu) rs2058596241
NM_000271.5(NPC1):c.3536T>C (p.Met1179Thr)
NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup) rs1555631911
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3562G>A (p.Glu1188Lys)
NM_000271.5(NPC1):c.3562G>C (p.Glu1188Gln)
NM_000271.5(NPC1):c.3580A>C (p.Met1194Leu) rs780120393
NM_000271.5(NPC1):c.3580A>G (p.Met1194Val)
NM_000271.5(NPC1):c.3591+3G>C
NM_000271.5(NPC1):c.3592-3T>C rs2145336490
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3605T>C (p.Ile1202Thr)
NM_000271.5(NPC1):c.3662T>A (p.Phe1221Tyr) rs1266315135
NM_000271.5(NPC1):c.3679A>G (p.Arg1227Gly) rs772924731
NM_000271.5(NPC1):c.3680G>T (p.Arg1227Met) rs867139443
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000271.5(NPC1):c.36GCT[1] (p.Leu15del)
NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser) rs2145335710
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.3754+4A>G rs2145335270
NM_000271.5(NPC1):c.3755-16TC[4] rs760529810
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3755-3T>C rs748965235
NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs) rs1555631176
NM_000271.5(NPC1):c.3772del (p.Ala1258fs) rs1555631174
NM_000271.5(NPC1):c.3773C>A (p.Ala1258Asp) rs767400384
NM_000271.5(NPC1):c.3778del (p.Ser1260fs) rs1555631169
NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) rs1482228628
NM_000271.5(NPC1):c.3787A>C (p.Thr1263Pro)
NM_000271.5(NPC1):c.3797G>T (p.Arg1266Leu)
NM_000271.5(NPC1):c.3797_3798delinsAC (p.Arg1266His) rs2058535881
NM_000271.5(NPC1):c.379G>C (p.Glu127Gln)
NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu) rs988215442
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
NM_000271.5(NPC1):c.3821G>T (p.Arg1274Leu)
NM_000271.5(NPC1):c.3830A>C (p.Asn1277Thr)
NM_000271.5(NPC1):c.3833T>A (p.Phe1278Tyr)
NM_000271.5(NPC1):c.383A>G (p.Asp128Gly)
NM_000271.5(NPC1):c.387_388inv (p.Val130Ile)
NM_000271.5(NPC1):c.397G>C (p.Val133Leu) rs2145526753
NM_000271.5(NPC1):c.403A>C (p.Asn135His)
NM_000271.5(NPC1):c.416C>T (p.Thr139Ile)
NM_000271.5(NPC1):c.42_44del (p.Leu15del) rs895660071
NM_000271.5(NPC1):c.430T>G (p.Leu144Val)
NM_000271.5(NPC1):c.442G>C (p.Val148Leu) rs200323346
NM_000271.5(NPC1):c.44T>G (p.Leu15Arg) rs2059417979
NM_000271.5(NPC1):c.463+3A>G rs2059162323
NM_000271.5(NPC1):c.463+4_463+5dup rs2145526225
NM_000271.5(NPC1):c.463G>T (p.Ala155Ser)
NM_000271.5(NPC1):c.464-15G>A
NM_000271.5(NPC1):c.464-16G>A
NM_000271.5(NPC1):c.467T>G (p.Met156Arg)
NM_000271.5(NPC1):c.476C>T (p.Ala159Val) rs2059038990
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp) rs1555638953
NM_000271.5(NPC1):c.49C>T (p.Pro17Ser)
NM_000271.5(NPC1):c.503G>A (p.Ser168Asn) rs2145485415
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.547G>T (p.Ala183Ser) rs111256741
NM_000271.5(NPC1):c.548C>T (p.Ala183Val)
NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) rs1555638882
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr) rs1555638862
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.57+5G>A rs1425231411
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.577A>G (p.Met193Val)
NM_000271.5(NPC1):c.584A>T (p.Asn195Ile)
NM_000271.5(NPC1):c.610A>G (p.Thr204Ala)
NM_000271.5(NPC1):c.619C>T (p.Pro207Ser)
NM_000271.5(NPC1):c.620C>T (p.Pro207Leu)
NM_000271.5(NPC1):c.622G>T (p.Val208Leu)
NM_000271.5(NPC1):c.631+5G>A
NM_000271.5(NPC1):c.631G>A (p.Asp211Asn)
NM_000271.5(NPC1):c.631G>T (p.Asp211Tyr)
NM_000271.5(NPC1):c.632-5T>A
NM_000271.5(NPC1):c.63T>G (p.Phe21Leu) rs2145552491
NM_000271.5(NPC1):c.646G>A (p.Gly216Arg)
NM_000271.5(NPC1):c.652G>C (p.Glu218Gln) rs972514142
NM_000271.5(NPC1):c.668C>G (p.Ala223Gly) rs2145480831
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.728G>C (p.Cys243Ser)
NM_000271.5(NPC1):c.734T>C (p.Ile245Thr)
NM_000271.5(NPC1):c.736G>A (p.Val246Ile)
NM_000271.5(NPC1):c.743G>A (p.Gly248Asp)
NM_000271.5(NPC1):c.746C>G (p.Pro249Arg)
NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)
NM_000271.5(NPC1):c.752C>G (p.Pro251Arg)
NM_000271.5(NPC1):c.756G>C (p.Gln252His) rs768008295
NM_000271.5(NPC1):c.758C>T (p.Pro253Leu) rs2145480194
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala) rs2059020379
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln) rs752145311
NM_000271.5(NPC1):c.761C>G (p.Pro254Arg) rs752145311
NM_000271.5(NPC1):c.764C>G (p.Pro255Arg)
NM_000271.5(NPC1):c.782C>T (p.Thr261Met)
NM_000271.5(NPC1):c.806A>G (p.Tyr269Cys)
NM_000271.5(NPC1):c.808G>A (p.Val270Ile)
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.811A>G (p.Ile271Val)
NM_000271.5(NPC1):c.815T>C (p.Met272Thr)
NM_000271.5(NPC1):c.829A>G (p.Met277Val)
NM_000271.5(NPC1):c.833C>T (p.Ala278Val)
NM_000271.5(NPC1):c.866C>G (p.Ala289Gly)
NM_000271.5(NPC1):c.887G>T (p.Arg296Leu)
NM_000271.5(NPC1):c.890A>G (p.Tyr297Cys) rs776844130
NM_000271.5(NPC1):c.895G>C (p.Val299Leu) rs1032415844
NM_000271.5(NPC1):c.899C>G (p.Ser300Cys) rs2058966735
NM_000271.5(NPC1):c.8C>T (p.Ala3Val)
NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup) rs1555637509
NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)
NM_000271.5(NPC1):c.91T>C (p.Cys31Arg)
NM_000271.5(NPC1):c.922A>C (p.Asn308His)
NM_000271.5(NPC1):c.925A>G (p.Ile309Val)
NM_000271.5(NPC1):c.934T>C (p.Ser312Pro)
NM_000271.5(NPC1):c.947G>A (p.Ser316Asn) rs1018014075
NM_000271.5(NPC1):c.955+4G>A
NM_000271.5(NPC1):c.958G>A (p.Glu320Lys)
NM_000271.5(NPC1):c.984C>T (p.Ser328=) rs760861487
NM_000271.5(NPC1):c.998G>A (p.Gly333Asp) rs2058955343
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000277.2(PAH):c.-232C>G rs886048893
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.*772_*775del rs551502562
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser) rs62517174
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu) rs886042068
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) rs62508735
NM_000277.3(PAH):c.1010G>T (p.Gly337Val) rs62517206
NM_000277.3(PAH):c.1019T>C (p.Ile340Thr) rs62508720
NM_000277.3(PAH):c.1022A>C (p.Lys341Thr) rs62516153
NM_000277.3(PAH):c.1022A>G (p.Lys341Arg) rs62516153
NM_000277.3(PAH):c.1030G>C (p.Gly344Arg) rs62508679
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe) rs62516154
NM_000277.3(PAH):c.105A>G (p.Ile35Met) rs768048739
NM_000277.3(PAH):c.1065+3A>C rs62508689
NM_000277.3(PAH):c.1065+7C>A rs62508639
NM_000277.3(PAH):c.1065+9T>G rs1874730997
NM_000277.3(PAH):c.1066-12del rs1874706297
NM_000277.3(PAH):c.1066-13T>G rs1435691439
NM_000277.3(PAH):c.1066-3C>G
NM_000277.3(PAH):c.1066-7C>T rs1242756437
NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp) rs62507320
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1096C>G (p.Pro366Ala)
NM_000277.3(PAH):c.1099C>G (p.Leu367Val) rs1565842281
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) rs62508574
NM_000277.3(PAH):c.1100T>G (p.Leu367Arg) rs62508574
NM_000277.3(PAH):c.1103A>G (p.Glu368Gly) rs2136635784
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) rs62507268
NM_000277.3(PAH):c.1120A>G (p.Ile374Val) rs769076484
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
NM_000277.3(PAH):c.1132A>T (p.Thr378Ser) rs62642911
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1166C>A (p.Ala389Glu) rs1874688379
NM_000277.3(PAH):c.1166C>G (p.Ala389Gly) rs1874688379
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) rs281865453
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser) rs199475695
NM_000277.3(PAH):c.1194A>C (p.Lys398Asn) rs199475638
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1199+50G>A rs369574052
NM_000277.3(PAH):c.1204T>A (p.Phe402Ile) rs62508725
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu) rs62508725
NM_000277.3(PAH):c.1204T>G (p.Phe402Val) rs62508725
NM_000277.3(PAH):c.1205T>G (p.Phe402Cys) rs1399587250
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser)
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) rs62644475
NM_000277.3(PAH):c.122T>C (p.Leu41Pro) rs62642916
NM_000277.3(PAH):c.1235T>G (p.Val412Gly) rs1874542925
NM_000277.3(PAH):c.1237C>G (p.Arg413Gly) rs62644467
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1246C>A (p.Pro416Thr) rs1874541064
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys) rs199475621
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) rs199475670
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1312A>G (p.Asn438Asp) rs1874535103
NM_000277.3(PAH):c.1315+5G>C rs1874533541
NM_000277.3(PAH):c.1334G>T (p.Cys445Phe) rs1874484048
NM_000277.3(PAH):c.133G>T (p.Val45Phe) rs1878255139
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)
NM_000277.3(PAH):c.134T>C (p.Val45Ala) rs1592988883
NM_000277.3(PAH):c.146C>T (p.Ala49Val) rs1878253465
NM_000277.3(PAH):c.148A>G (p.Lys50Glu)
NM_000277.3(PAH):c.168+5G>T rs62507288
NM_000277.3(PAH):c.168+6T>G rs62516144
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
NM_000277.3(PAH):c.169-7C>G rs2136702235
NM_000277.3(PAH):c.175G>T (p.Asp59Tyr) rs199475635
NM_000277.3(PAH):c.176A>G (p.Asp59Gly) rs199475672
NM_000277.3(PAH):c.184C>G (p.Leu62Val) rs1565866640
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.190C>A (p.His64Asn) rs199475569
NM_000277.3(PAH):c.200C>G (p.Ser67Cys) rs2136702072
NM_000277.3(PAH):c.206C>T (p.Pro69Leu)
NM_000277.3(PAH):c.214T>G (p.Leu72Val)
NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr) rs2136701938
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
NM_000277.3(PAH):c.22A>G (p.Asn8Asp)
NM_000277.3(PAH):c.232G>C (p.Glu78Gln) rs62507326
NM_000277.3(PAH):c.233A>T (p.Glu78Val) rs1877431301
NM_000277.3(PAH):c.234A>T (p.Glu78Asp) rs2136701879
NM_000277.3(PAH):c.23A>C (p.Asn8Thr) rs1878414153
NM_000277.3(PAH):c.250G>A (p.Asp84Asn)
NM_000277.3(PAH):c.257G>A (p.Arg86His)
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.285C>T (p.Ile95=) rs1877427309
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.295A>G (p.Arg99Gly) rs2136701651
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.307G>A (p.Gly103Ser) rs752792040
NM_000277.3(PAH):c.339GAA[1] (p.Lys115del) rs1555207969
NM_000277.3(PAH):c.353-2059_353-1160del rs2136680756
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.361T>G (p.Phe121Val) rs1876627337
NM_000277.3(PAH):c.362T>C (p.Phe121Ser) rs1565859485
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.371C>A (p.Thr124Asn)
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.380A>G (p.Glu127Gly) rs1876625601
NM_000277.3(PAH):c.384G>A (p.Leu128=)
NM_000277.3(PAH):c.386A>T (p.Asp129Val) rs199475623
NM_000277.3(PAH):c.392T>C (p.Phe131Ser) rs1876624286
NM_000277.3(PAH):c.411C>T (p.Ser137=) rs1801146
NM_000277.3(PAH):c.419C>T (p.Ala140Val)
NM_000277.3(PAH):c.441+5G>A rs62507321
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.442G>C (p.Gly148Arg) rs80297647
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.44T>A (p.Leu15His) rs1319374413
NM_000277.3(PAH):c.44T>G (p.Leu15Arg)
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.458T>C (p.Val153Ala)
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn) rs199475587
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) rs62642946
NM_000277.3(PAH):c.470G>C (p.Arg157Thr) rs199475611
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.47C>A (p.Ser16Tyr) rs1592991188
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.506G>C (p.Arg169Pro) rs199475679
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.510-6T>G rs62507281
NM_000277.3(PAH):c.523C>G (p.Pro175Ala) rs199475604
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.538A>G (p.Met180Val) rs1875373366
NM_000277.3(PAH):c.54T>C (p.Phe18=) rs1878411076
NM_000277.3(PAH):c.552_554del (p.Lys185del)
NM_000277.3(PAH):c.553A>G (p.Lys185Glu)
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
NM_000277.3(PAH):c.586T>A (p.Ser196Thr)
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr) rs865899394
NM_000277.3(PAH):c.599C>A (p.Thr200Asn) rs2136649547
NM_000277.3(PAH):c.59A>C (p.Gln20Pro) rs199475662
NM_000277.3(PAH):c.60+5_60+6del rs1592991131
NM_000277.3(PAH):c.60G>C (p.Gln20His) rs199475688
NM_000277.3(PAH):c.61-3T>C rs1878260066
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.626T>C (p.Ile209Thr)
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)
NM_000277.3(PAH):c.656T>C (p.Phe219Ser) rs1164279708
NM_000277.3(PAH):c.661G>A (p.Glu221Lys) rs2136649314
NM_000277.3(PAH):c.667A>T (p.Asn223Tyr) rs2136649290
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.684A>C (p.Glu228Asp) rs2136649225
NM_000277.3(PAH):c.689T>G (p.Val230Gly) rs199475673
NM_000277.3(PAH):c.703C>A (p.Gln235Lys) rs1237792711
NM_000277.3(PAH):c.704A>C (p.Gln235Pro) rs199475656
NM_000277.3(PAH):c.706+5G>A rs1331362460
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.720C>T (p.Phe240=)
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.743T>C (p.Leu248Pro) rs62507340
NM_000277.3(PAH):c.743T>G (p.Leu248Arg) rs62507340
NM_000277.3(PAH):c.752C>T (p.Ser251Phe)
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.776C>G (p.Ala259Gly)
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849
NM_000277.3(PAH):c.791A>G (p.His264Arg) rs199475580
NM_000277.3(PAH):c.791A>T (p.His264Leu) rs199475580
NM_000277.3(PAH):c.793T>G (p.Cys265Gly) rs62517181
NM_000277.3(PAH):c.796A>G (p.Thr266Ala) rs62508752
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.802T>C (p.Tyr268His) rs62507263
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.817T>C (p.Ser273Pro) rs1565846754
NM_000277.3(PAH):c.828G>T (p.Met276Ile) rs62514954
NM_000277.3(PAH):c.842+4A>T rs1555204434
NM_000277.3(PAH):c.842+6T>A rs1592952773
NM_000277.3(PAH):c.843-13_843-10del rs2136645010
NM_000277.3(PAH):c.843-6T>C rs2136645004
NM_000277.3(PAH):c.843-8T>C rs2136645006
NM_000277.3(PAH):c.843T>A (p.Pro281=)
NM_000277.3(PAH):c.853C>T (p.His285Tyr) rs199475636
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.869A>G (p.His290Arg) rs62642919
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.871G>T (p.Val291Leu) rs1875160008
NM_000277.3(PAH):c.880T>A (p.Phe294Ile) rs1565846198
NM_000277.3(PAH):c.886G>C (p.Asp296His) rs765934604
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.896T>C (p.Phe299Ser) rs62642933
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.912+16T>A rs1875152576
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-5T>C
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.934G>C (p.Gly312Arg) rs763115697
NM_000277.3(PAH):c.945T>A (p.Asp315Glu) rs1180470263
NM_000277.3(PAH):c.947A>T (p.Glu316Val) rs1874873096
NM_000277.3(PAH):c.949T>C (p.Tyr317His) rs1874872863
NM_000277.3(PAH):c.950A>G (p.Tyr317Cys) rs2136639547
NM_000277.3(PAH):c.952A>G (p.Ile318Val)
NM_000277.3(PAH):c.968C>T (p.Thr323Ile) rs1874870478
NM_000277.3(PAH):c.969+4A>T rs2136639453
NM_000277.3(PAH):c.969+6T>C rs62517196
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.970-6T>G rs62507274
NM_000277.3(PAH):c.970-7A>G rs745670264
NM_000277.3(PAH):c.977G>C (p.Trp326Ser) rs62514959
NM_000277.3(PAH):c.981T>G (p.Phe327Leu) rs199475642
NM_000277.3(PAH):c.983C>A (p.Thr328Asn) rs886042096
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096
NM_000277.3(PAH):c.98G>T (p.Gly33Val)
NM_000281.4(PCBD1):c.-15G>C rs886047114
NM_000281.4(PCBD1):c.135+16G>A
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile) rs121913014
NM_000281.4(PCBD1):c.281G>T (p.Ser94Ile) rs1846540236
NM_000281.4(PCBD1):c.286A>G (p.Ile96Val)
NM_000281.4(PCBD1):c.308T>A (p.Met103Lys)
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln) rs770334825
NM_000281.4(PCBD1):c.37A>T (p.Arg13Trp)
NM_000281.4(PCBD1):c.45G>C (p.Gln15His)
NM_000281.4(PCBD1):c.5C>T (p.Ala2Val) rs1846575724
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*520A>G rs1298505668
NM_000286.3(PEX12):c.*767CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*783A>C rs571975070
NM_000286.3(PEX12):c.-145C>T rs886052832
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.-340G>T rs886052833
NM_000286.3(PEX12):c.-360G>A rs2072800546
NM_000286.3(PEX12):c.1006C>T (p.His336Tyr) rs2142228771
NM_000286.3(PEX12):c.1008C>A (p.His336Gln) rs1291823697
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr) rs2072781374
NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)
NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)
NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser) rs2142228742
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)
NM_000286.3(PEX12):c.1060C>G (p.Leu354Val) rs928085463
NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe) rs928085463
NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)
NM_000286.3(PEX12):c.106G>C (p.Ala36Pro) rs2142231624
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.116A>G (p.His39Arg)
NM_000286.3(PEX12):c.117T>G (p.His39Gln) rs727504078
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
NM_000286.3(PEX12):c.126+3A>G rs2072796615
NM_000286.3(PEX12):c.127-3T>A rs2142231281
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg) rs2142231778
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala) rs2142231256
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr) rs1344931108
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly) rs2072793873
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.203T>A (p.Leu68His) rs2072793797
NM_000286.3(PEX12):c.207_209del (p.Leu70del)
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)
NM_000286.3(PEX12):c.238G>A (p.Ala80Thr)
NM_000286.3(PEX12):c.239C>T (p.Ala80Val) rs2072793061
NM_000286.3(PEX12):c.244T>C (p.Phe82Leu) rs2142231070
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr) rs2142231028
NM_000286.3(PEX12):c.29C>T (p.Ala10Val)
NM_000286.3(PEX12):c.302A>G (p.Gln101Arg)
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr) rs2072792418
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.354G>A (p.Met118Ile) rs1025113717
NM_000286.3(PEX12):c.361G>T (p.Val121Phe)
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.373T>C (p.Tyr125His) rs2142230828
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
NM_000286.3(PEX12):c.382G>A (p.Val128Met) rs2142230817
NM_000286.3(PEX12):c.391G>A (p.Glu131Lys) rs768259519
NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup) rs2142230787
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile) rs1269271203
NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)
NM_000286.3(PEX12):c.424G>A (p.Glu142Lys) rs2142230751
NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro) rs2072791318
NM_000286.3(PEX12):c.437A>G (p.His146Arg)
NM_000286.3(PEX12):c.43G>A (p.Asp15Asn) rs200048804
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln) rs564816937
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly) rs2142230649
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr) rs2142230618
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg) rs202025715
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
NM_000286.3(PEX12):c.531A>G (p.Gln177=)
NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly) rs61752103
NM_000286.3(PEX12):c.541T>C (p.Tyr181His)
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
NM_000286.3(PEX12):c.565C>T (p.His189Tyr) rs1336163775
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr) rs2072790056
NM_000286.3(PEX12):c.586G>C (p.Ala196Pro)
NM_000286.3(PEX12):c.599T>C (p.Leu200Pro)
NM_000286.3(PEX12):c.608T>C (p.Leu203Pro) rs896156854
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
NM_000286.3(PEX12):c.680+3A>G
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn) rs1428801230
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
NM_000286.3(PEX12):c.739C>G (p.Leu247Val) rs1030736075
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala) rs2072783485
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del) rs1567729860
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro) rs2142229155
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
NM_000286.3(PEX12):c.860A>T (p.His287Leu) rs2142229061
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
NM_000286.3(PEX12):c.877G>A (p.Asp293Asn) rs2142229035
NM_000286.3(PEX12):c.886C>G (p.Leu296Val)
NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)
NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
NM_000286.3(PEX12):c.892C>T (p.Pro298Ser) rs2072782397
NM_000286.3(PEX12):c.908T>C (p.Val303Ala) rs2142228949
NM_000286.3(PEX12):c.913C>T (p.Pro305Ser) rs1444133628
NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)
NM_000286.3(PEX12):c.944C>A (p.Thr315Asn) rs2142228884
NM_000286.3(PEX12):c.947T>G (p.Val316Gly)
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.94G>A (p.Ala32Thr) rs2142231638
NM_000286.3(PEX12):c.967G>C (p.Val323Leu) rs2142228853
NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)
NM_000286.3(PEX12):c.980G>A (p.Arg327His)
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp) rs2072797963
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.1010A>T (p.Tyr337Phe)
NM_000287.4(PEX6):c.1012G>A (p.Asp338Asn) rs2150236006
NM_000287.4(PEX6):c.1013A>G (p.Asp338Gly)
NM_000287.4(PEX6):c.1015G>A (p.Gly339Ser)
NM_000287.4(PEX6):c.1018G>A (p.Val340Ile)
NM_000287.4(PEX6):c.1036C>A (p.Gln346Lys)
NM_000287.4(PEX6):c.1046+3_1046+5dup
NM_000287.4(PEX6):c.1047-3C>T rs2150235001
NM_000287.4(PEX6):c.104_109dup (p.Leu36_Val37insGlyLeu)
NM_000287.4(PEX6):c.106C>A (p.Leu36Met) rs758416830
NM_000287.4(PEX6):c.1075G>C (p.Val359Leu) rs2150234968
NM_000287.4(PEX6):c.1091A>G (p.Gln364Arg) rs1282588166
NM_000287.4(PEX6):c.1092A>G (p.Gln364=) rs1241222298
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+1G>T rs267608213
NM_000287.4(PEX6):c.1130+6C>T rs2150234879
NM_000287.4(PEX6):c.1131-3C>A
NM_000287.4(PEX6):c.1131G>A (p.Arg377=)
NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
NM_000287.4(PEX6):c.1136G>A (p.Arg379Gln)
NM_000287.4(PEX6):c.1138G>A (p.Glu380Lys)
NM_000287.4(PEX6):c.1152_1154del (p.Val385del) rs1770004572
NM_000287.4(PEX6):c.115G>A (p.Ala39Thr)
NM_000287.4(PEX6):c.1166T>C (p.Val389Ala) rs1043201555
NM_000287.4(PEX6):c.1178C>T (p.Pro393Leu)
NM_000287.4(PEX6):c.1181A>G (p.Asp394Gly)
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
NM_000287.4(PEX6):c.1183G>C (p.Gly395Arg)
NM_000287.4(PEX6):c.1186C>T (p.Pro396Ser) rs1239197537
NM_000287.4(PEX6):c.1187C>T (p.Pro396Leu)
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser) rs1355523119
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr) rs566310924
NM_000287.4(PEX6):c.1234G>A (p.Val412Met)
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165
NM_000287.4(PEX6):c.125C>T (p.Pro42Leu) rs960906617
NM_000287.4(PEX6):c.1264C>T (p.Leu422Phe)
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser) rs1770442809
NM_000287.4(PEX6):c.1299G>T (p.Leu433Phe)
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1350_1351delinsAA (p.Pro451Thr)
NM_000287.4(PEX6):c.1354C>G (p.Arg452Gly)
NM_000287.4(PEX6):c.1357C>T (p.Leu453Phe) rs1769988827
NM_000287.4(PEX6):c.1367+6T>C rs2114247326
NM_000287.4(PEX6):c.1368G>A (p.Gly456=) rs763725671
NM_000287.4(PEX6):c.1370G>A (p.Gly457Asp)
NM_000287.4(PEX6):c.1373C>A (p.Ala458Asp)
NM_000287.4(PEX6):c.137G>C (p.Ser46Thr)
NM_000287.4(PEX6):c.1382C>G (p.Thr461Arg) rs2114246115
NM_000287.4(PEX6):c.1388C>T (p.Thr463Ile)
NM_000287.4(PEX6):c.1394G>C (p.Ser465Thr) rs2114246040
NM_000287.4(PEX6):c.1396G>A (p.Val466Ile)
NM_000287.4(PEX6):c.1399C>T (p.Leu467Phe) rs2114246028
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del) rs1222318292
NM_000287.4(PEX6):c.140C>A (p.Pro47Gln) rs1299683224
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu) rs1769951744
NM_000287.4(PEX6):c.1429A>G (p.Thr477Ala) rs2114245927
NM_000287.4(PEX6):c.1438G>A (p.Val480Ile) rs2114245909
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr) rs1320010518
NM_000287.4(PEX6):c.1463G>A (p.Gly488Glu)
NM_000287.4(PEX6):c.1478A>T (p.Lys493Met)
NM_000287.4(PEX6):c.1479+4A>T rs2114245810
NM_000287.4(PEX6):c.1479+6_1479+9del
NM_000287.4(PEX6):c.1483C>T (p.Pro495Ser)
NM_000287.4(PEX6):c.1489T>C (p.Ser497Pro) rs2114245129
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg) rs1769929969
NM_000287.4(PEX6):c.1519G>A (p.Val507Met)
NM_000287.4(PEX6):c.1519G>C (p.Val507Leu) rs1355702643
NM_000287.4(PEX6):c.152C>T (p.Ala51Val)
NM_000287.4(PEX6):c.1544T>A (p.Phe515Tyr) rs778534336
NM_000287.4(PEX6):c.1544T>C (p.Phe515Ser)
NM_000287.4(PEX6):c.1547C>G (p.Ser516Cys)
NM_000287.4(PEX6):c.1549C>A (p.Arg517=) rs754790139
NM_000287.4(PEX6):c.154C>G (p.Leu52Val) rs2150240677
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro) rs371782808
NM_000287.4(PEX6):c.1556G>T (p.Arg519Leu)
NM_000287.4(PEX6):c.1559G>A (p.Arg520His)
NM_000287.4(PEX6):c.1559G>T (p.Arg520Leu)
NM_000287.4(PEX6):c.1564C>T (p.Arg522Trp)
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.1565G>C (p.Arg522Pro)
NM_000287.4(PEX6):c.1570G>A (p.Ala524Thr)
NM_000287.4(PEX6):c.1586C>T (p.Thr529Ile) rs771639281
NM_000287.4(PEX6):c.1588G>T (p.Ala530Ser)
NM_000287.4(PEX6):c.1611C>G (p.Asp537Glu) rs2114244744
NM_000287.4(PEX6):c.1618G>A (p.Gly540Arg)
NM_000287.4(PEX6):c.161T>G (p.Val54Gly) rs2150240668
NM_000287.4(PEX6):c.1624G>A (p.Gly542Ser) rs1769923693
NM_000287.4(PEX6):c.1627G>A (p.Glu543Lys) rs143549190
NM_000287.4(PEX6):c.1629G>C (p.Glu543Asp)
NM_000287.4(PEX6):c.1630G>A (p.Asp544Asn) rs2114244681
NM_000287.4(PEX6):c.1634C>T (p.Ala545Val) rs2114244672
NM_000287.4(PEX6):c.1639G>A (p.Val547Met)
NM_000287.4(PEX6):c.1642A>G (p.Met548Val)
NM_000287.4(PEX6):c.1644G>C (p.Met548Ile)
NM_000287.4(PEX6):c.1655G>A (p.Arg552His)
NM_000287.4(PEX6):c.1672G>A (p.Glu558Lys)
NM_000287.4(PEX6):c.1681C>T (p.Leu561Phe)
NM_000287.4(PEX6):c.1685A>G (p.Asn562Ser)
NM_000287.4(PEX6):c.1689-3C>T rs769573987
NM_000287.4(PEX6):c.1699C>A (p.Leu567Ile)
NM_000287.4(PEX6):c.1702A>T (p.Met568Leu) rs2114242869
NM_000287.4(PEX6):c.1706T>C (p.Val569Ala)
NM_000287.4(PEX6):c.1708G>A (p.Val570Met) rs2114242847
NM_000287.4(PEX6):c.1709T>C (p.Val570Ala)
NM_000287.4(PEX6):c.1723C>T (p.Arg575Trp) rs755211783
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln) rs754034834
NM_000287.4(PEX6):c.1724G>T (p.Arg575Leu)
NM_000287.4(PEX6):c.1741G>A (p.Ala581Thr) rs1316254924
NM_000287.4(PEX6):c.1756G>A (p.Ala586Thr) rs1309200431
NM_000287.4(PEX6):c.1756_1757delinsAA (p.Ala586Lys)
NM_000287.4(PEX6):c.1765C>T (p.His589Tyr) rs2114242678
NM_000287.4(PEX6):c.1771C>T (p.Leu591Phe) rs2114242669
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1783G>A (p.Ala595Thr)
NM_000287.4(PEX6):c.1789T>C (p.Ser597Pro)
NM_000287.4(PEX6):c.179C>T (p.Pro60Leu)
NM_000287.4(PEX6):c.1816C>T (p.Arg606Trp)
NM_000287.4(PEX6):c.181G>A (p.Asp61Asn)
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro) rs1561821635
NM_000287.4(PEX6):c.1826C>T (p.Thr609Ile) rs2114242443
NM_000287.4(PEX6):c.1833C>G (p.His611Gln) rs1335182312
NM_000287.4(PEX6):c.1849G>A (p.Glu617Lys)
NM_000287.4(PEX6):c.1866G>T (p.Gln622His)
NM_000287.4(PEX6):c.1870G>T (p.Ala624Ser)
NM_000287.4(PEX6):c.1871C>T (p.Ala624Val) rs2114242326
NM_000287.4(PEX6):c.1873C>T (p.Arg625Trp)
NM_000287.4(PEX6):c.1874G>A (p.Arg625Gln) rs1769868642
NM_000287.4(PEX6):c.187G>T (p.Gly63Cys)
NM_000287.4(PEX6):c.1880G>A (p.Cys627Tyr) rs2114242285
NM_000287.4(PEX6):c.1881T>G (p.Cys627Trp)
NM_000287.4(PEX6):c.1900G>A (p.Asp634Asn) rs2114241000
NM_000287.4(PEX6):c.1900G>T (p.Asp634Tyr)
NM_000287.4(PEX6):c.1910C>G (p.Ala637Gly) rs2114240982
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.1935A>C (p.Ala645=) rs1769827119
NM_000287.4(PEX6):c.193G>A (p.Glu65Lys)
NM_000287.4(PEX6):c.1940_1941delinsAT (p.Cys647Tyr) rs2114240908
NM_000287.4(PEX6):c.196G>A (p.Glu66Lys)
NM_000287.4(PEX6):c.1970G>A (p.Gly657Asp) rs2114240555
NM_000287.4(PEX6):c.1982A>C (p.Glu661Ala) rs2114240531
NM_000287.4(PEX6):c.1993G>T (p.Gly665Trp)
NM_000287.4(PEX6):c.1998G>T (p.Glu666Asp)
NM_000287.4(PEX6):c.2017C>T (p.Pro673Ser)
NM_000287.4(PEX6):c.2018C>G (p.Pro673Arg) rs2114240452
NM_000287.4(PEX6):c.202G>C (p.Gly68Arg) rs752644254
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.205C>T (p.Pro69Ser)
NM_000287.4(PEX6):c.2066C>T (p.Ala689Val) rs1396207688
NM_000287.4(PEX6):c.208G>A (p.Gly70Arg) rs2150240598
NM_000287.4(PEX6):c.2093A>G (p.Lys698Arg) rs2114240305
NM_000287.4(PEX6):c.2094+4G>A rs943511270
NM_000287.4(PEX6):c.2094+4G>C rs943511270
NM_000287.4(PEX6):c.2094+4_2094+6del
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2148G>C (p.Glu716Asp)
NM_000287.4(PEX6):c.2150T>C (p.Ile717Thr) rs2114239994
NM_000287.4(PEX6):c.2152C>G (p.Leu718Val) rs1769807803
NM_000287.4(PEX6):c.2167C>G (p.Leu723Val)
NM_000287.4(PEX6):c.2171C>T (p.Pro724Leu) rs201270008
NM_000287.4(PEX6):c.2192T>G (p.Leu731Arg)
NM_000287.4(PEX6):c.2195G>T (p.Ser732Ile)
NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg) rs1485203588
NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro) rs1581760232
NM_000287.4(PEX6):c.2224C>T (p.Leu742Phe)
NM_000287.4(PEX6):c.2241C>T (p.Gly747=) rs2114239728
NM_000287.4(PEX6):c.224T>C (p.Leu75Pro)
NM_000287.4(PEX6):c.2261C>T (p.Ala754Val)
NM_000287.4(PEX6):c.226G>A (p.Val76Ile)
NM_000287.4(PEX6):c.2272G>A (p.Ala758Thr) rs1769800975
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)
NM_000287.4(PEX6):c.2301-9C>A rs1769791098
NM_000287.4(PEX6):c.2301C>T (p.Ser767=)
NM_000287.4(PEX6):c.2302G>A (p.Val768Met)
NM_000287.4(PEX6):c.2306A>C (p.Lys769Thr)
NM_000287.4(PEX6):c.2316G>T (p.Glu772Asp)
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg) rs1770437263
NM_000287.4(PEX6):c.2327T>C (p.Met776Thr) rs2114239270
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp) rs929525105
NM_000287.4(PEX6):c.2351A>G (p.Asn784Ser) rs1769787466
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.236C>T (p.Ala79Val)
NM_000287.4(PEX6):c.2392T>C (p.Cys798Arg)
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr) rs748244253
NM_000287.4(PEX6):c.2419T>C (p.Ser807Pro)
NM_000287.4(PEX6):c.2434C>T (p.Arg812Trp) rs61753228
NM_000287.4(PEX6):c.2453C>G (p.Ser818Cys)
NM_000287.4(PEX6):c.245G>C (p.Arg82Pro) rs2150240495
NM_000287.4(PEX6):c.2471+5G>T rs1213308057
NM_000287.4(PEX6):c.2476G>A (p.Val826Met) rs1769733515
NM_000287.4(PEX6):c.2476G>T (p.Val826Leu) rs1769733515
NM_000287.4(PEX6):c.247C>G (p.Leu83Val) rs1770435941
NM_000287.4(PEX6):c.2488C>G (p.Leu830Val) rs749533099
NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)
NM_000287.4(PEX6):c.2504G>A (p.Gly835Glu)
NM_000287.4(PEX6):c.2524G>A (p.Val842Met)
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2565C>A (p.Asp855Glu)
NM_000287.4(PEX6):c.2572C>A (p.Leu858Ile) rs1769725500
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro) rs1769725308
NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro) rs61753231
NM_000287.4(PEX6):c.2581C>G (p.Pro861Ala)
NM_000287.4(PEX6):c.2587A>G (p.Arg863Gly) rs1769723613
NM_000287.4(PEX6):c.2589-11T>G
NM_000287.4(PEX6):c.2601G>T (p.Leu867=) rs1769712635
NM_000287.4(PEX6):c.2627G>A (p.Arg876Gln)
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu) rs1769709206
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000287.4(PEX6):c.2666+5G>A rs1332626624
NM_000287.4(PEX6):c.2668T>C (p.Phe890Leu) rs2114236546
NM_000287.4(PEX6):c.2697A>G (p.Val899=) rs892510772
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala) rs1209841271
NM_000287.4(PEX6):c.272G>C (p.Trp91Ser)
NM_000287.4(PEX6):c.2734G>T (p.Ala912Ser)
NM_000287.4(PEX6):c.2753G>A (p.Cys918Tyr) rs1418426929
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.2768C>T (p.Thr923Ile)
NM_000287.4(PEX6):c.2773_2774delinsCT (p.Ala925Leu) rs2114236221
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1]) rs61753208
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
NM_000287.4(PEX6):c.2785A>G (p.Arg929Gly) rs1232075600
NM_000287.4(PEX6):c.2806+6C>T
NM_000287.4(PEX6):c.2814_2816delinsAGA (p.Pro939Glu)
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg) rs1129187
NM_000287.4(PEX6):c.281C>A (p.Ala94Glu) rs61752143
NM_000287.4(PEX6):c.2830C>A (p.Leu944Met) rs2063704023
NM_000287.4(PEX6):c.2842A>G (p.Met948Val)
NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)
NM_000287.4(PEX6):c.284G>A (p.Arg95Gln)
NM_000287.4(PEX6):c.284G>C (p.Arg95Pro) rs2150240407
NM_000287.4(PEX6):c.2850C>G (p.Asp950Glu) rs1251800022
NM_000287.4(PEX6):c.2861C>T (p.Ala954Val)
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser) rs774145857
NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg) rs2114235199
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.4(PEX6):c.2893C>G (p.Gln965Glu)
NM_000287.4(PEX6):c.2905C>T (p.Arg969Trp)
NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)
NM_000287.4(PEX6):c.2913G>C (p.Lys971Asn)
NM_000287.4(PEX6):c.2915G>T (p.Arg972Leu) rs751058292
NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro) rs1211978587
NM_000287.4(PEX6):c.2938T>A (p.Cys980Ser)
NM_000287.4(PEX6):c.2938T>G (p.Cys980Gly) rs1427401725
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg) rs774813175
NM_000287.4(PEX6):c.302C>T (p.Pro101Leu)
NM_000287.4(PEX6):c.313T>C (p.Trp105Arg)
NM_000287.4(PEX6):c.316G>A (p.Ala106Thr) rs2150240338
NM_000287.4(PEX6):c.317C>T (p.Ala106Val)
NM_000287.4(PEX6):c.32C>T (p.Pro11Leu) rs2150240912
NM_000287.4(PEX6):c.337G>A (p.Gly113Arg)
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe) rs1770429515
NM_000287.4(PEX6):c.352C>T (p.Pro118Ser)
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.373G>T (p.Val125Leu) rs1383547974
NM_000287.4(PEX6):c.37C>A (p.Pro13Thr)
NM_000287.4(PEX6):c.403G>A (p.Gly135Arg)
NM_000287.4(PEX6):c.403G>C (p.Gly135Arg)
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro) rs1254025750
NM_000287.4(PEX6):c.424C>T (p.Arg142Trp)
NM_000287.4(PEX6):c.42C>A (p.Thr14=) rs1375938727
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln) rs1561830810
NM_000287.4(PEX6):c.44A>T (p.Glu15Val)
NM_000287.4(PEX6):c.469G>A (p.Val157Met) rs777547423
NM_000287.4(PEX6):c.473C>G (p.Thr158Ser)
NM_000287.4(PEX6):c.475G>C (p.Glu159Gln) rs991248029
NM_000287.4(PEX6):c.481C>T (p.Arg161Cys)
NM_000287.4(PEX6):c.485G>C (p.Gly162Ala)
NM_000287.4(PEX6):c.490G>A (p.Ala164Thr)
NM_000287.4(PEX6):c.494G>A (p.Arg165Lys)
NM_000287.4(PEX6):c.496C>A (p.Leu166Met) rs1770417803
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr) rs918969564
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr) rs748585216
NM_000287.4(PEX6):c.508T>C (p.Ser170Pro) rs1233039273
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del) rs1770416024
NM_000287.4(PEX6):c.517A>G (p.Ser173Gly)
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
NM_000287.4(PEX6):c.52C>T (p.Pro18Ser) rs1770447100
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser) rs1331493124
NM_000287.4(PEX6):c.53C>T (p.Pro18Leu)
NM_000287.4(PEX6):c.541G>A (p.Val181Met)
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.544G>A (p.Val182Met)
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.559G>A (p.Val187Ile) rs2150239788
NM_000287.4(PEX6):c.568A>G (p.Thr190Ala)
NM_000287.4(PEX6):c.586G>A (p.Gly196Arg) rs1770412754
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg) rs1770412754
NM_000287.4(PEX6):c.592C>G (p.Leu198Val) rs1770412382
NM_000287.4(PEX6):c.599G>A (p.Gly200Glu)
NM_000287.4(PEX6):c.600G>T (p.Gly200=)
NM_000287.4(PEX6):c.614T>A (p.Leu205Gln)
NM_000287.4(PEX6):c.614T>C (p.Leu205Pro) rs1379179938
NM_000287.4(PEX6):c.643C>G (p.Leu215Val) rs865933425
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.658G>A (p.Gly220Ser)
NM_000287.4(PEX6):c.658G>C (p.Gly220Arg)
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.660C>T (p.Gly220=)
NM_000287.4(PEX6):c.667G>A (p.Val223Met)
NM_000287.4(PEX6):c.673G>A (p.Val225Met) rs1770406575
NM_000287.4(PEX6):c.677C>A (p.Ala226Asp) rs2150239605
NM_000287.4(PEX6):c.67C>G (p.Leu23Val)
NM_000287.4(PEX6):c.681G>A (p.Gln227=) rs1770406319
NM_000287.4(PEX6):c.683C>G (p.Ala228Gly)
NM_000287.4(PEX6):c.695C>T (p.Ser232Leu)
NM_000287.4(PEX6):c.697A>C (p.Asn233His)
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp) rs374452739
NM_000287.4(PEX6):c.701C>G (p.Thr234Ser)
NM_000287.4(PEX6):c.701C>T (p.Thr234Ile)
NM_000287.4(PEX6):c.703T>C (p.Ser235Pro)
NM_000287.4(PEX6):c.709C>T (p.Pro237Ser)
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.724G>T (p.Val242Leu) rs368915893
NM_000287.4(PEX6):c.737A>T (p.Glu246Val) rs1770401105
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)
NM_000287.4(PEX6):c.754T>A (p.Ser252Thr)
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg) rs1268867658
NM_000287.4(PEX6):c.770C>A (p.Pro257His)
NM_000287.4(PEX6):c.776C>T (p.Ser259Phe) rs201329563
NM_000287.4(PEX6):c.780_782dup (p.Pro261dup) rs1770395486
NM_000287.4(PEX6):c.78_79delinsAA (p.Gly27Ser)
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala) rs983060034
NM_000287.4(PEX6):c.812C>T (p.Ala271Val)
NM_000287.4(PEX6):c.817G>C (p.Val273Leu) rs1770393206
NM_000287.4(PEX6):c.824C>G (p.Ala275Gly)
NM_000287.4(PEX6):c.829T>A (p.Leu277Met) rs1198487899
NM_000287.4(PEX6):c.839A>G (p.Asn280Ser)
NM_000287.4(PEX6):c.83C>G (p.Pro28Arg)
NM_000287.4(PEX6):c.853C>A (p.Pro285Thr) rs61753220
NM_000287.4(PEX6):c.856C>G (p.Leu286Val) rs2150239282
NM_000287.4(PEX6):c.866G>A (p.Gly289Glu)
NM_000287.4(PEX6):c.882+4G>A rs756846884
NM_000287.4(PEX6):c.882+5G>A rs1770388962
NM_000287.4(PEX6):c.896G>A (p.Gly299Asp) rs548459114
NM_000287.4(PEX6):c.899C>T (p.Ser300Phe)
NM_000287.4(PEX6):c.915C>G (p.Asp305Glu)
NM_000287.4(PEX6):c.937C>T (p.Pro313Ser)
NM_000287.4(PEX6):c.941G>T (p.Gly314Val) rs746415021
NM_000287.4(PEX6):c.953C>G (p.Ala318Gly) rs200600289
NM_000287.4(PEX6):c.967A>G (p.Ile323Val)
NM_000287.4(PEX6):c.988C>T (p.His330Tyr) rs1561827871
NM_000287.4(PEX6):c.994A>G (p.Ser332Gly)
NM_000287.4(PEX6):c.998C>G (p.Thr333Ser)
NM_000288.4(PEX7):c.*124A>G rs112796869
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T rs991168664
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-46_-38dup rs1554328233
NM_000288.4(PEX7):c.-69C>A rs528948146
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly) rs1774101933
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
NM_000288.4(PEX7):c.116A>G (p.His39Arg) rs61753237
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp) rs61753239
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) rs61753239
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.130+3G>A
NM_000288.4(PEX7):c.130+5G>A
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr) rs2115129058
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu) rs2115129066
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
NM_000288.4(PEX7):c.195C>G (p.Asp65Glu) rs2115131716
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser) rs902252309
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu) rs1306941707
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu) rs1774097710
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
NM_000288.4(PEX7):c.275T>C (p.Leu92Pro)
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
NM_000288.4(PEX7):c.286G>A (p.Asp96Asn) rs1412257014
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu) rs760182861
NM_000288.4(PEX7):c.330C>G (p.His110Gln) rs199648976
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
NM_000288.4(PEX7):c.346_348del (p.Ser116del) rs1774581899
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
NM_000288.4(PEX7):c.385G>A (p.Val129Met) rs746310218
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg) rs1774098770
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro) rs1562734989
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
NM_000288.4(PEX7):c.53A>G (p.His18Arg) rs2115122498
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
NM_000288.4(PEX7):c.568G>A (p.Val190Ile)
NM_000288.4(PEX7):c.587C>T (p.Ala196Val) rs2115216804
NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
NM_000288.4(PEX7):c.633+3A>G
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)
NM_000288.4(PEX7):c.704T>C (p.Val235Ala)
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro) rs754346713
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser) rs375091907
NM_000288.4(PEX7):c.733A>G (p.Ile245Val) rs750815894
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.737G>T (p.Arg246Met) rs780186421
NM_000288.4(PEX7):c.747+5G>A rs1775145774
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
NM_000288.4(PEX7):c.803+5A>C
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
NM_000288.4(PEX7):c.830C>G (p.Ser277Cys)
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala) rs2115273002
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
NM_000288.4(PEX7):c.883A>G (p.Ser295Gly)
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) rs374763007
NM_000288.4(PEX7):c.903+5C>T
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.911A>T (p.Asp304Val)
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.917del (p.Ser306fs) rs1554337182
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) rs1554337188
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu) rs2115300138
NM_000288.4(PEX7):c.964C>A (p.Pro322Thr)
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) rs988988279
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) rs374574552
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*461G>T rs1271843257
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr) rs2100756894
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe) rs749210400
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu) rs2230896
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala) rs998178222
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly) rs998178222
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala) rs760764359
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser) rs760764359
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln) rs371001571
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu) rs2100757756
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro) rs1569721294
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala) rs1645800221
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe) rs1445338657
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys) rs1264798278
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val) rs1645803161
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro) rs2100758364
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val) rs2100758386
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser) rs1490187110
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg) rs1156431423
NM_000302.4(PLOD1):c.1470+5G>A rs1553136223
NM_000302.4(PLOD1):c.1471-14C>T rs2100759144
NM_000302.4(PLOD1):c.1471-9C>A rs376476977
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn) rs1283020139
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly) rs2100759169
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile) rs750942824
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys) rs1645810603
NM_000302.4(PLOD1):c.1511_1513del (p.His504del) rs2100759209
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu) rs1429074293
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys) rs758701213
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser) rs1324129456
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe) rs377325169
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys) rs761949919
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln) rs773547480
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val) rs753862253
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr) rs1645823972
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp) rs1331435501
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
NM_000302.4(PLOD1):c.1756-13C>A
NM_000302.4(PLOD1):c.1756-20T>G rs1310114003
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu) rs755346019
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro) rs2100764621
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala) rs138106022
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln) rs768638113
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met) rs760314787
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala) rs920188548
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp) rs1645857603
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys) rs752084194
NM_000302.4(PLOD1):c.1902+3G>A rs1645857795
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp) rs1281801241
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys) rs1010336383
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser) rs2100768765
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val) rs1553137685
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn) rs1645891475
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His) rs1645892067
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu) rs2100743367
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val) rs2100743381
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser) rs781689639
NM_000302.4(PLOD1):c.2164del (p.Val722fs) rs1645892679
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile) rs151247380
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu) rs151247380
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val) rs1034357016
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe) rs1306060482
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val) rs1348207190
NM_000302.4(PLOD1):c.262C>G (p.His88Asp) rs1645686634
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
NM_000302.4(PLOD1):c.302+3_302+6del rs2100743549
NM_000302.4(PLOD1):c.302+5G>C rs749607584
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln) rs1553133902
NM_000302.4(PLOD1):c.315_317del (p.Phe106del) rs770511543
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu) rs549517196
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys) rs1645691095
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
NM_000302.4(PLOD1):c.369G>C (p.Gln123His) rs1645691361
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile) rs984869224
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu) rs144702307
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
NM_000302.4(PLOD1):c.466+65C>A
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr) rs1553134244
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) rs1402614845
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly) rs1569694008
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg) rs113384442
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn) rs188165334
NM_000302.4(PLOD1):c.535G>C (p.Asp179His) rs188165334
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg) rs2100746537
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp) rs1645711960
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg) rs375416784
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+3A>C rs1645712158
NM_000302.4(PLOD1):c.579G>A (p.Arg193=) rs1553134266
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu) rs1645566854
NM_000302.4(PLOD1):c.644-19T>C
NM_000302.4(PLOD1):c.652G>A (p.Val218Met) rs372534520
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro) rs1392799816
NM_000302.4(PLOD1):c.674A>G (p.His225Arg) rs1176136454
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn) rs1645742510
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu) rs1438879558
NM_000302.4(PLOD1):c.723T>G (p.His241Gln) rs2100750549
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala) rs774044489
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val) rs2100751390
NM_000302.4(PLOD1):c.77-3403T>C rs1645637106
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn) rs2100751465
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser) rs2100741705
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys) rs1267512667
NM_000302.4(PLOD1):c.844-3C>G rs2100752095
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp) rs1394486748
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu) rs143114026
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe) rs1438781151
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) rs1645756307
NM_000302.4(PLOD1):c.949C>A (p.His317Asn) rs1287367993
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
NM_000302.4(PLOD1):c.951C>G (p.His317Gln) rs770032875
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn) rs1553135172
NM_000302.4(PLOD1):c.976-3C>T rs1198690797
NM_000302.4(PLOD1):c.976-6C>A rs200825919
NM_000302.4(PLOD1):c.976-7_976-2dup
NM_000317.3(PTS):c.*148C>A rs910098440
NM_000317.3(PTS):c.*58G>C rs1307423080
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.118T>C (p.Phe40Leu) rs1555198118
NM_000317.3(PTS):c.11A>G (p.Glu4Gly)
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
NM_000317.3(PTS):c.136C>A (p.Pro46Thr) rs2135408262
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.148G>A (p.Gly50Arg) rs922940879
NM_000317.3(PTS):c.149G>A (p.Gly50Glu) rs2135408273
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser) rs2135408283
NM_000317.3(PTS):c.164-37dup
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.186G>A (p.Glu62=) rs189051075
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
NM_000317.3(PTS):c.209T>A (p.Val70Asp) rs1592880489
NM_000317.3(PTS):c.243+4A>G
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.26G>A (p.Arg9His) rs1213277062
NM_000317.3(PTS):c.274A>C (p.Asn92His) rs1859964367
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys) rs1555198458
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000317.3(PTS):c.326A>G (p.Asn109Ser) rs1361000720
NM_000317.3(PTS):c.340A>G (p.Ile114Val) rs1555198495
NM_000317.3(PTS):c.356A>G (p.Gln119Arg)
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.402A>C (p.Glu134Asp) rs746993982
NM_000317.3(PTS):c.429A>C (p.Lys143Asn) rs1555198513
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr) rs1859973316
NM_000317.3(PTS):c.47G>A (p.Arg16His)
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.83+5G>A
NM_000317.3(PTS):c.83+5G>T
NM_000317.3(PTS):c.91C>A (p.Leu31Ile)
NM_000318.2(PEX2):c.-273G>A rs367767138
NM_000318.2(PEX2):c.-278C>G rs886063142
NM_000318.2(PEX2):c.-335C>T rs886063143
NM_000318.2(PEX2):c.-369C>T rs886063145
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1319A>T rs912151931
NM_000318.3(PEX2):c.*1466ATT[1] rs552746754
NM_000318.3(PEX2):c.*1606T>G rs1276104967
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2404A>G rs1806798109
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2700G>T rs1806788065
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*419T>G rs1806878211
NM_000318.3(PEX2):c.*645G>T rs1806867628
NM_000318.3(PEX2):c.*780T>A rs1806859817
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg) rs1427212561
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu) rs2132044807
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser)
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser)
NM_000318.3(PEX2):c.166G>A (p.Val56Met) rs2132044712
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
NM_000318.3(PEX2):c.19A>C (p.Asn7His) rs576066189
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly) rs1305420150
NM_000318.3(PEX2):c.221C>T (p.Ala74Val)
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser) rs2132045041
NM_000318.3(PEX2):c.238G>A (p.Val80Ile)
NM_000318.3(PEX2):c.247A>G (p.Ile83Val)
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr) rs1806923661
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly)
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile) rs1463397236
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr) rs2132044452
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp)
NM_000318.3(PEX2):c.320C>T (p.Ala107Val) rs2132044318
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
NM_000318.3(PEX2):c.361T>C (p.Tyr121His) rs1201697415
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys)
NM_000318.3(PEX2):c.365A>T (p.Asp122Val)
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser) rs2132044164
NM_000318.3(PEX2):c.373C>A (p.Arg125=) rs61752124
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser) rs2132044121
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser) rs2132044038
NM_000318.3(PEX2):c.415G>T (p.Val139Leu) rs1806914302
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro) rs2132043971
NM_000318.3(PEX2):c.483A>G (p.Gly161=) rs2132043885
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp)
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg)
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly) rs752394595
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)
NM_000318.3(PEX2):c.506G>A (p.Arg169His)
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu) rs564144139
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) rs545785018
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu) rs2132043720
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) rs747946744
NM_000318.3(PEX2):c.573G>C (p.Met191Ile) rs2132043654
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln)
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp) rs376974246
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu) rs1806904326
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys) rs2132043579
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
NM_000318.3(PEX2):c.619C>G (p.Leu207Val) rs143986865
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe) rs1420998615
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly) rs1484917700
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn) rs1806902121
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp) rs2132043367
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr) rs1475641448
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp) rs1806899956
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) rs112108739
NM_000318.3(PEX2):c.736C>G (p.Leu246Val) rs757764014
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)
NM_000318.3(PEX2):c.757A>G (p.Met253Val)
NM_000318.3(PEX2):c.766A>G (p.Thr256Ala) rs1220452895
NM_000318.3(PEX2):c.76A>C (p.Asn26His) rs977528373
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu) rs1428046580
NM_000318.3(PEX2):c.784A>G (p.Ile262Val) rs1806895422
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys)
NM_000318.3(PEX2):c.78_80del (p.Asn26del) rs1806932884
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs) rs2132043053
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys) rs2132043073
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)
NM_000318.3(PEX2):c.852C>T (p.Gly284=) rs2132042925
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn)
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu) rs2132042879
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr) rs2132042875
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)
NM_000318.3(PEX2):c.891C>G (p.Ile297Met)
NM_000318.3(PEX2):c.897G>A (p.Met299Ile) rs1806890153
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)
NM_000318.3(PEX2):c.915T>A (p.Leu305=) rs1806889622
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro) rs1806931527
NM_000320.3(QDPR):c.*187A>C rs1717979575
NM_000320.3(QDPR):c.*277T>C rs1717973938
NM_000320.3(QDPR):c.*374G>C rs1717970851
NM_000320.3(QDPR):c.*450T>A rs886059237
NM_000320.3(QDPR):c.*46C>A rs567249048
NM_000320.3(QDPR):c.-17G>T rs560782260
NM_000320.3(QDPR):c.11C>T (p.Ala4Val)
NM_000320.3(QDPR):c.121G>T (p.Asp41Tyr)
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del)
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser)
NM_000320.3(QDPR):c.153C>G (p.Ser51Arg) rs2108997310
NM_000320.3(QDPR):c.163A>G (p.Lys55Glu)
NM_000320.3(QDPR):c.173A>C (p.Asp58Ala)
NM_000320.3(QDPR):c.190G>T (p.Ala64Ser) rs1480794443
NM_000320.3(QDPR):c.227G>A (p.Gly76Asp) rs2108994422
NM_000320.3(QDPR):c.240G>A (p.Val80=)
NM_000320.3(QDPR):c.24C>T (p.Gly8=)
NM_000320.3(QDPR):c.256G>A (p.Val86Ile) rs186929388
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr) rs147257284
NM_000320.3(QDPR):c.296-15G>T rs776479029
NM_000320.3(QDPR):c.297T>C (p.Ser99=) rs1309099253
NM_000320.3(QDPR):c.308A>G (p.Asn103Ser) rs1248495029
NM_000320.3(QDPR):c.311G>A (p.Cys104Tyr) rs2108993051
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly) rs1404740384
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile)
NM_000320.3(QDPR):c.365C>A (p.Ala122Asp) rs1553875105
NM_000320.3(QDPR):c.374A>G (p.His125Arg) rs201283946
NM_000320.3(QDPR):c.37G>A (p.Val13Met)
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del) rs762480653
NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup) rs762480653
NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla)
NM_000320.3(QDPR):c.412A>C (p.Lys138Gln) rs2108992947
NM_000320.3(QDPR):c.415G>C (p.Ala139Pro) rs779606633
NM_000320.3(QDPR):c.437-6T>A rs886059239
NM_000320.3(QDPR):c.482G>T (p.Cys161Phe)
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
NM_000320.3(QDPR):c.486G>C (p.Gln162His) rs761732291
NM_000320.3(QDPR):c.545+2dup rs1718190006
NM_000320.3(QDPR):c.546G>A (p.Pro182=) rs1176312266
NM_000320.3(QDPR):c.556G>C (p.Asp186His)
NM_000320.3(QDPR):c.560C>A (p.Thr187Asn) rs2108986735
NM_000320.3(QDPR):c.578C>T (p.Ser193Leu) rs2108986715
NM_000320.3(QDPR):c.580A>G (p.Met194Val)
NM_000320.3(QDPR):c.5C>T (p.Ala2Val)
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup) rs757385912
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln) rs1478668973
NM_000320.3(QDPR):c.668G>A (p.Ser223Asn)
NM_000320.3(QDPR):c.67G>A (p.Gly23Ser)
NM_000320.3(QDPR):c.689T>C (p.Val230Ala) rs761568067
NM_000320.3(QDPR):c.68G>C (p.Gly23Ala) rs104893863
NM_000320.3(QDPR):c.70T>G (p.Ser24Ala)
NM_000320.3(QDPR):c.91C>T (p.Arg31Trp) rs2108999046
NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)
NM_000329.3(RPE65):c.*128G>A rs1385513974
NM_000329.3(RPE65):c.*424C>A rs1645803830
NM_000329.3(RPE65):c.*630C>T rs1645802157
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*946C>T rs1645800007
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys) rs1645875407
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe) rs2100817108
NM_000329.3(RPE65):c.1040G>T (p.Arg347Leu) rs562037932
NM_000329.3(RPE65):c.1058T>G (p.Val353Gly) rs2100817038
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr) rs62646883
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser) rs764589805
NM_000329.3(RPE65):c.11+4_11+7del
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser)
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser) rs1645874179
NM_000329.3(RPE65):c.1123G>A (p.Asp375Asn) rs1645874113
NM_000329.3(RPE65):c.1123G>C (p.Asp375His) rs1645874113
NM_000329.3(RPE65):c.1128G>A (p.Lys376=)
NM_000329.3(RPE65):c.1149A>T (p.Leu383Phe)
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe) rs1645826797
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile) rs1645826475
NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
NM_000329.3(RPE65):c.1201_1203dup (p.Ile401dup) rs2100807868
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser) rs774130993
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
NM_000329.3(RPE65):c.1234C>T (p.Pro412Ser)
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
NM_000329.3(RPE65):c.1282G>T (p.Gly428Trp) rs2100807435
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
NM_000329.3(RPE65):c.1294A>C (p.Thr432Pro) rs1645824500
NM_000329.3(RPE65):c.1294A>T (p.Thr432Ser) rs1645824500
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys) rs147206805
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu) rs62637002
NM_000329.3(RPE65):c.131G>T (p.Arg44Leu) rs61751282
NM_000329.3(RPE65):c.1322A>G (p.His441Arg) rs1645824226
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1333G>C (p.Asp445His)
NM_000329.3(RPE65):c.1338+3A>T rs1645824066
NM_000329.3(RPE65):c.1339-3C>G
NM_000329.3(RPE65):c.1348C>G (p.Leu450Val) rs2100807072
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys) rs1645823028
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr) rs2100806926
NM_000329.3(RPE65):c.1409C>A (p.Pro470His) rs774211361
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
NM_000329.3(RPE65):c.1424A>C (p.His475Pro) rs2100806867
NM_000329.3(RPE65):c.1429G>C (p.Asp477His) rs2100806843
NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr) rs2100806829
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1444G>T (p.Asp482Tyr) rs2100806802
NM_000329.3(RPE65):c.1450+3A>G
NM_000329.3(RPE65):c.1454T>C (p.Val485Ala) rs1645808193
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe) rs2100805317
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) rs1557595139
NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn) rs1645807408
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys) rs373274945
NM_000329.3(RPE65):c.1574C>A (p.Thr525Asn) rs879123797
NM_000329.3(RPE65):c.1580A>G (p.His527Arg) rs1194458561
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg) rs150832066
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
NM_000329.3(RPE65):c.158G>T (p.Gly53Val) rs763536294
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu) rs2100831318
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys) rs2100831197
NM_000329.3(RPE65):c.220G>C (p.Glu74Gln) rs2100831197
NM_000329.3(RPE65):c.221A>G (p.Glu74Gly) rs2100831191
NM_000329.3(RPE65):c.227A>G (p.His76Arg) rs1571172233
NM_000329.3(RPE65):c.256A>G (p.Thr86Ala) rs2100828493
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn) rs1645931073
NM_000329.3(RPE65):c.260A>G (p.Asp87Gly) rs1645931040
NM_000329.3(RPE65):c.280A>G (p.Thr94Ala) rs1645930710
NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)
NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr) rs1645930635
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser) rs1645930469
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
NM_000329.3(RPE65):c.332C>A (p.Pro111His) rs2100828238
NM_000329.3(RPE65):c.350C>T (p.Ser117Phe) rs2100828189
NM_000329.3(RPE65):c.353+4A>T rs1299116346
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser) rs1015895028
NM_000329.3(RPE65):c.366C>T (p.Tyr122=) rs1479443954
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
NM_000329.3(RPE65):c.386C>T (p.Thr129Ile) rs768336015
NM_000329.3(RPE65):c.395C>T (p.Ala132Val) rs1276965909
NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
NM_000329.3(RPE65):c.400_402del (p.Val134del) rs1170746947
NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
NM_000329.3(RPE65):c.415G>A (p.Val139Met)
NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_000329.3(RPE65):c.485C>T (p.Thr162Ile) rs1360779220
NM_000329.3(RPE65):c.497T>C (p.Val166Ala) rs2100821973
NM_000329.3(RPE65):c.505T>C (p.Cys169Arg) rs1645898589
NM_000329.3(RPE65):c.535G>A (p.Ala179Thr) rs1645898290
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.53C>G (p.Thr18Ser) rs1645959906
NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.56T>A (p.Val19Glu) rs1645959875
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys) rs755545288
NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
NM_000329.3(RPE65):c.598T>G (p.Phe200Val) rs1406145019
NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
NM_000329.3(RPE65):c.624G>T (p.Lys208Asn) rs1170839612
NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
NM_000329.3(RPE65):c.629C>G (p.Pro210Arg) rs757538512
NM_000329.3(RPE65):c.638A>C (p.Gln213Pro) rs1224080719
NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
NM_000329.3(RPE65):c.643+3G>A rs1277690393
NM_000329.3(RPE65):c.644-5T>A rs2100819923
NM_000329.3(RPE65):c.648G>A (p.Lys216=)
NM_000329.3(RPE65):c.650A>T (p.Glu217Val) rs777646597
NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.718G>A (p.Val240Ile) rs192907397
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.725+5C>T rs923933222
NM_000329.3(RPE65):c.725+6T>C rs2100819643
NM_000329.3(RPE65):c.726-3C>A
NM_000329.3(RPE65):c.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys) rs2100834242
NM_000329.3(RPE65):c.731G>A (p.Gly244Asp) rs2100819283
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) rs1325815513
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
NM_000329.3(RPE65):c.802T>A (p.Trp268Arg)
NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
NM_000329.3(RPE65):c.826A>G (p.Met276Val)
NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
NM_000329.3(RPE65):c.902A>C (p.Asn301Thr)
NM_000329.3(RPE65):c.922C>T (p.Pro308Ser)
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp) rs2100818454
NM_000329.3(RPE65):c.975T>C (p.Ile325=) rs761227832
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.998G>A (p.Gly333Glu) rs1173207597
NM_000329.3(RPE65):c.999-3C>G rs2100817189
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.-67G>A rs191783461
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) rs757322725
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000337.5(SGCD):c.-139dup rs1554093270
NM_000337.6(SGCD):c.*1906C>G rs540017785
NM_000337.6(SGCD):c.*1907G>A rs75063526
NM_000337.6(SGCD):c.*2813C>A rs886060297
NM_000337.6(SGCD):c.*2814G>A rs142023087
NM_000337.6(SGCD):c.*4935C>T rs1029399512
NM_000337.6(SGCD):c.*6223T>A rs886060313
NM_000337.6(SGCD):c.*6518C>T rs1165157961
NM_000337.6(SGCD):c.*6660dup rs57240389
NM_000337.6(SGCD):c.*6664C>T rs1010222786
NM_000337.6(SGCD):c.-44+1G>C rs959438136
NM_000337.6(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.6(SGCD):c.-44+2T>A rs1300537737
NM_000337.6(SGCD):c.-44+2T>G rs1300537737
NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr) rs757994622
NM_000337.6(SGCD):c.104T>C (p.Leu35Pro) rs1014551583
NM_000337.6(SGCD):c.112T>C (p.Phe38Leu)
NM_000337.6(SGCD):c.115G>C (p.Val39Leu)
NM_000337.6(SGCD):c.116T>C (p.Val39Ala) rs794729164
NM_000337.6(SGCD):c.121C>A (p.Leu41Ile) rs769047953
NM_000337.6(SGCD):c.127A>T (p.Met43Leu) rs2127716663
NM_000337.6(SGCD):c.130A>G (p.Ile44Val)
NM_000337.6(SGCD):c.131T>G (p.Ile44Ser) rs1419851820
NM_000337.6(SGCD):c.155T>C (p.Met52Thr) rs2127716699
NM_000337.6(SGCD):c.175G>T (p.Val59Phe) rs1274415049
NM_000337.6(SGCD):c.197G>C (p.Gly66Ala) rs1581095772
NM_000337.6(SGCD):c.242G>C (p.Gly81Ala) rs2127875419
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_000337.6(SGCD):c.262C>T (p.Pro88Ser) rs1489575164
NM_000337.6(SGCD):c.265C>G (p.Leu89Val) rs754342073
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000337.6(SGCD):c.271G>A (p.Ala91Thr)
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln) rs1159364901
NM_000337.6(SGCD):c.285G>C (p.Gln95His) rs1421460814
NM_000337.6(SGCD):c.28C>T (p.His10Tyr) rs2127716448
NM_000337.6(SGCD):c.296G>T (p.Gly99Val) rs955284985
NM_000337.6(SGCD):c.298A>T (p.Asn100Tyr)
NM_000337.6(SGCD):c.3+1G>A rs777787493
NM_000337.6(SGCD):c.3+1G>T rs777787493
NM_000337.6(SGCD):c.310T>C (p.Phe104Leu) rs989244785
NM_000337.6(SGCD):c.313_315del (p.Lys105del) rs1760622721
NM_000337.6(SGCD):c.315G>C (p.Lys105Asn) rs1760622985
NM_000337.6(SGCD):c.337A>C (p.Asn113His) rs1760624404
NM_000337.6(SGCD):c.354G>C (p.Gln118His) rs770930747
NM_000337.6(SGCD):c.356C>G (p.Thr119Ser) rs1581216333
NM_000337.6(SGCD):c.356C>T (p.Thr119Ile) rs1581216333
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu) rs956992133
NM_000337.6(SGCD):c.373C>T (p.Leu125Phe)
NM_000337.6(SGCD):c.376A>G (p.Ile126Val)
NM_000337.6(SGCD):c.382+4A>G
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.383-33_383-13del rs1554119747
NM_000337.6(SGCD):c.383G>A (p.Gly128Asp)
NM_000337.6(SGCD):c.38C>T (p.Thr13Ile) rs1768840932
NM_000337.6(SGCD):c.397G>C (p.Glu133Gln) rs746717495
NM_000337.6(SGCD):c.40A>G (p.Met14Val)
NM_000337.6(SGCD):c.413A>G (p.Lys138Arg)
NM_000337.6(SGCD):c.413A>T (p.Lys138Ile) rs1760869370
NM_000337.6(SGCD):c.414A>T (p.Lys138Asn) rs1760869467
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile) rs886044160
NM_000337.6(SGCD):c.41T>C (p.Met14Thr)
NM_000337.6(SGCD):c.437G>T (p.Gly146Val) rs1438925313
NM_000337.6(SGCD):c.446T>C (p.Leu149Pro)
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe) rs766924806
NM_000337.6(SGCD):c.467A>G (p.Glu156Gly)
NM_000337.6(SGCD):c.469G>A (p.Val157Met) rs2113389554
NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr) rs886043902
NM_000337.6(SGCD):c.488G>A (p.Arg163Lys)
NM_000337.6(SGCD):c.491T>C (p.Leu164Ser) rs2113389732
NM_000337.6(SGCD):c.503-9T>A
NM_000337.6(SGCD):c.534A>G (p.Ile178Met) rs1474496504
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser) rs1187720404
NM_000337.6(SGCD):c.541C>T (p.Pro181Ser)
NM_000337.6(SGCD):c.56G>C (p.Gly19Ala)
NM_000337.6(SGCD):c.580_582dup (p.Glu194dup) rs2113176912
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr) rs1757387093
NM_000337.6(SGCD):c.590C>G (p.Thr197Ser) rs1241850589
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu) rs1327580871
NM_000337.6(SGCD):c.620G>A (p.Gly207Glu)
NM_000337.6(SGCD):c.622G>A (p.Val208Met)
NM_000337.6(SGCD):c.626A>C (p.Glu209Ala)
NM_000337.6(SGCD):c.631A>C (p.Asn211His) rs527801800
NM_000337.6(SGCD):c.649A>G (p.Met217Val) rs2113177878
NM_000337.6(SGCD):c.662G>A (p.Cys221Tyr) rs1561899959
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.683A>C (p.Glu228Ala) rs2113178162
NM_000337.6(SGCD):c.691G>A (p.Asp231Asn) rs2113178203
NM_000337.6(SGCD):c.699+8del rs1581539353
NM_000337.6(SGCD):c.735A>T (p.Arg245Ser)
NM_000337.6(SGCD):c.744T>G (p.His248Gln) rs1160680799
NM_000337.6(SGCD):c.760A>G (p.Thr254Ala)
NM_000337.6(SGCD):c.761C>T (p.Thr254Ile) rs372607729
NM_000337.6(SGCD):c.772C>T (p.Gln258Ter) rs1224803345
NM_000337.6(SGCD):c.775_777del (p.Lys259del) rs1207864818
NM_000337.6(SGCD):c.790T>C (p.Cys264Arg) rs2113186659
NM_000337.6(SGCD):c.792C>G (p.Cys264Trp) rs367616773
NM_000337.6(SGCD):c.793G>C (p.Val265Leu)
NM_000337.6(SGCD):c.798C>A (p.Cys266Ter) rs371850230
NM_000337.6(SGCD):c.815T>G (p.Phe272Cys)
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser) rs753240054
NM_000337.6(SGCD):c.833C>G (p.Ala278Gly)
NM_000337.6(SGCD):c.835G>A (p.Gly279Arg)
NM_000337.6(SGCD):c.841A>G (p.Thr281Ala)
NM_000337.6(SGCD):c.865T>C (p.Cys289Arg)
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) rs1956635063
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) rs1956631543
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2117-10C>A rs886048053
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.3399+6G>A rs1954472209
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3558-6C>G rs886048050
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4199-8C>T rs886048048
NM_000352.6(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) rs1953847411
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) rs1957204723
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) rs1433841842
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) rs763302648
NM_000360.4(TH):c.*102C>A rs1846011369
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*135C>A rs1347143870
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.*9C>A rs762091461
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1025G>T (p.Arg342Leu) rs768713710
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1047+3A>G rs1564917483
NM_000360.4(TH):c.1047G>A (p.Gln349=)
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1072G>A (p.Ala358Thr)
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) rs1564917127
NM_000360.4(TH):c.107G>T (p.Gly36Val)
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) rs1846080018
NM_000360.4(TH):c.109C>T (p.Arg37Cys)
NM_000360.4(TH):c.1104+3G>A
NM_000360.4(TH):c.1104+4G>A
NM_000360.4(TH):c.1104+4G>T rs747560095
NM_000360.4(TH):c.1104+6T>C
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.1121T>C (p.Val374Ala) rs1846072496
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1143G>T (p.Gln381His)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1162T>C (p.Tyr388His) rs1846070989
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1171G>C (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1186T>C (p.Tyr396His)
NM_000360.4(TH):c.11C>T (p.Pro4Leu)
NM_000360.4(TH):c.1200+5G>A
NM_000360.4(TH):c.120C>A (p.Ser40Arg) rs766048900
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1219C>G (p.Pro407Ala)
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.1236C>A (p.Phe412Leu)
NM_000360.4(TH):c.1240C>T (p.Pro414Ser)
NM_000360.4(TH):c.1262C>T (p.Pro421Leu) rs752022049
NM_000360.4(TH):c.1271A>C (p.Asp424Ala) rs1590165136
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.1288G>A (p.Val430Ile) rs2133688950
NM_000360.4(TH):c.1296C>A (p.Phe432Leu) rs760210103
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1318G>A (p.Ala440Thr)
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.1324G>C (p.Asp442His) rs775587609
NM_000360.4(TH):c.1330C>T (p.Leu444Phe)
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) rs1846054204
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.133G>A (p.Ala45Thr) rs1846204853
NM_000360.4(TH):c.1348C>A (p.Arg450Ser)
NM_000360.4(TH):c.1367C>G (p.Ser456Cys)
NM_000360.4(TH):c.1369G>A (p.Val457Met)
NM_000360.4(TH):c.1378G>A (p.Asp460Asn)
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.1390C>G (p.Leu464Val)
NM_000360.4(TH):c.1401C>A (p.Asp467Glu) rs3842724
NM_000360.4(TH):c.1440G>T (p.Glu480Asp) rs1405705464
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.1442G>T (p.Gly481Val) rs564949885
NM_000360.4(TH):c.1445T>C (p.Val482Ala)
NM_000360.4(TH):c.1450G>C (p.Asp484His)
NM_000360.4(TH):c.1453G>A (p.Glu485Lys)
NM_000360.4(TH):c.1459G>C (p.Asp487His) rs2133686524
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.1460A>G (p.Asp487Gly)
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
NM_000360.4(TH):c.146G>A (p.Arg49Gln)
NM_000360.4(TH):c.1490G>T (p.Gly497Val)
NM_000360.4(TH):c.151G>A (p.Ala51Thr)
NM_000360.4(TH):c.152C>T (p.Ala51Val)
NM_000360.4(TH):c.16G>T (p.Ala6Ser)
NM_000360.4(TH):c.200C>T (p.Pro67Leu) rs752445432
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.205G>A (p.Glu69Lys)
NM_000360.4(TH):c.217T>C (p.Phe73Leu) rs577028504
NM_000360.4(TH):c.222G>C (p.Glu74Asp)
NM_000360.4(TH):c.225G>T (p.Glu75Asp)
NM_000360.4(TH):c.245T>G (p.Leu82Arg) rs990443240
NM_000360.4(TH):c.259T>C (p.Ser87Pro) rs1846199834
NM_000360.4(TH):c.25C>T (p.Pro9Ser)
NM_000360.4(TH):c.281C>T (p.Ser94Leu)
NM_000360.4(TH):c.284C>A (p.Ala95Glu) rs769126179
NM_000360.4(TH):c.284C>G (p.Ala95Gly) rs769126179
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.286_312+18dup rs1388275002
NM_000360.4(TH):c.293G>A (p.Arg98Gln)
NM_000360.4(TH):c.293G>C (p.Arg98Pro) rs375214998
NM_000360.4(TH):c.298G>A (p.Val100Met) rs1353856728
NM_000360.4(TH):c.298G>C (p.Val100Leu)
NM_000360.4(TH):c.302A>G (p.Lys101Arg) rs1284709971
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
NM_000360.4(TH):c.312+6C>T rs753670938
NM_000360.4(TH):c.314C>T (p.Thr105Met)
NM_000360.4(TH):c.31G>A (p.Ala11Thr)
NM_000360.4(TH):c.32C>A (p.Ala11Asp) rs933425557
NM_000360.4(TH):c.32C>G (p.Ala11Gly) rs933425557
NM_000360.4(TH):c.337C>G (p.Leu113Val) rs1846169186
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.347G>A (p.Arg116Gln)
NM_000360.4(TH):c.347G>C (p.Arg116Pro)
NM_000360.4(TH):c.352G>T (p.Ala118Ser)
NM_000360.4(TH):c.359G>A (p.Arg120Lys)
NM_000360.4(TH):c.385G>A (p.Glu129Lys) rs1178215140
NM_000360.4(TH):c.394G>C (p.Val132Leu) rs751702426
NM_000360.4(TH):c.397C>T (p.Arg133Cys)
NM_000360.4(TH):c.398G>T (p.Arg133Leu) rs376881948
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del) rs1846165944
NM_000360.4(TH):c.403G>A (p.Glu135Lys)
NM_000360.4(TH):c.409C>T (p.Arg137Cys)
NM_000360.4(TH):c.413G>A (p.Arg138Gln)
NM_000360.4(TH):c.418G>A (p.Asp140Asn)
NM_000360.4(TH):c.424G>T (p.Ala142Ser) rs770167236
NM_000360.4(TH):c.42C>G (p.Phe14Leu)
NM_000360.4(TH):c.443T>C (p.Val148Ala) rs942789428
NM_000360.4(TH):c.446G>A (p.Arg149His)
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000360.4(TH):c.463G>A (p.Val155Met)
NM_000360.4(TH):c.467G>A (p.Arg156His)
NM_000360.4(TH):c.46A>G (p.Arg16Gly)
NM_000360.4(TH):c.473C>T (p.Pro158Leu)
NM_000360.4(TH):c.475G>A (p.Ala159Thr)
NM_000360.4(TH):c.476C>T (p.Ala159Val)
NM_000360.4(TH):c.479G>A (p.Gly160Glu) rs777823354
NM_000360.4(TH):c.488-17C>G rs918432885
NM_000360.4(TH):c.503G>A (p.Arg168Lys)
NM_000360.4(TH):c.50C>A (p.Ala17Asp) rs2133704171
NM_000360.4(TH):c.549C>G (p.Phe183Leu)
NM_000360.4(TH):c.550G>C (p.Asp184His)
NM_000360.4(TH):c.575C>T (p.Pro192Leu) rs760346235
NM_000360.4(TH):c.576+6T>C
NM_000360.4(TH):c.577-22_577-5del
NM_000360.4(TH):c.577-3C>T
NM_000360.4(TH):c.577G>A (p.Gly193Ser) rs2133695838
NM_000360.4(TH):c.58G>A (p.Glu20Lys) rs2133704152
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.628G>T (p.Ala210Ser) rs1260455415
NM_000360.4(TH):c.633C>A (p.Phe211Leu)
NM_000360.4(TH):c.635A>G (p.Gln212Arg) rs1002471580
NM_000360.4(TH):c.645C>A (p.His215Gln) rs768037080
NM_000360.4(TH):c.647G>A (p.Gly216Asp)
NM_000360.4(TH):c.652C>T (p.Pro218Ser)
NM_000360.4(TH):c.661C>T (p.Arg221Cys)
NM_000360.4(TH):c.662G>T (p.Arg221Leu) rs150559011
NM_000360.4(TH):c.680A>C (p.Glu227Ala) rs929509309
NM_000360.4(TH):c.685A>C (p.Ile229Leu) rs778613708
NM_000360.4(TH):c.702G>T (p.Glu234Asp)
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
NM_000360.4(TH):c.713C>T (p.Thr238Met) rs757607038
NM_000360.4(TH):c.722G>A (p.Gly241Asp)
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.727T>C (p.Tyr243His) rs1196330512
NM_000360.4(TH):c.730G>C (p.Ala244Pro) rs759968927
NM_000360.4(TH):c.730G>T (p.Ala244Ser) rs759968927
NM_000360.4(TH):c.739G>A (p.Ala247Thr)
NM_000360.4(TH):c.755T>C (p.Leu252Pro) rs978552119
NM_000360.4(TH):c.765T>G (p.Phe255Leu)
NM_000360.4(TH):c.767C>T (p.Ala256Val)
NM_000360.4(TH):c.778C>G (p.Arg260Gly) rs376462928
NM_000360.4(TH):c.787G>A (p.Gly263Ser)
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.821A>G (p.Asp274Gly)
NM_000360.4(TH):c.824T>G (p.Val275Gly) rs2133693418
NM_000360.4(TH):c.829C>A (p.Arg277Ser) rs2133693392
NM_000360.4(TH):c.82G>C (p.Ala28Pro)
NM_000360.4(TH):c.841+3G>A rs528887823
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.842-10C>A rs1397228949
NM_000360.4(TH):c.842-3C>A
NM_000360.4(TH):c.862C>T (p.Arg288Trp)
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.901G>T (p.Ala301Ser)
NM_000360.4(TH):c.91-20_91-10del rs2133700266
NM_000360.4(TH):c.91-819G>A rs1330998143
NM_000360.4(TH):c.91-819G>T rs1330998143
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-847C>T
NM_000360.4(TH):c.91-851G>A rs1186732715
NM_000360.4(TH):c.91-856C>A
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-875G>A
NM_000360.4(TH):c.91-886C>T
NM_000360.4(TH):c.91-893C>T
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.920T>C (p.Val307Ala)
NM_000360.4(TH):c.950C>A (p.Ala317Glu)
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.970C>T (p.Pro324Ser)
NM_000360.4(TH):c.977+8C>T rs12419447
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000360.4(TH):c.97C>T (p.Arg33Trp)
NM_000370.3(TTPA):c.*1135T>C rs886063062
NM_000370.3(TTPA):c.*1164A>T rs886063061
NM_000370.3(TTPA):c.*1176ATA[1] rs548084272
NM_000370.3(TTPA):c.*1247A>G rs1277245038
NM_000370.3(TTPA):c.*1394A>G rs886063060
NM_000370.3(TTPA):c.*1424C>T rs577649057
NM_000370.3(TTPA):c.*1469ATAA[3] rs773557348
NM_000370.3(TTPA):c.*1598C>T rs886063059
NM_000370.3(TTPA):c.*265T>C rs1805296752
NM_000370.3(TTPA):c.*452T>C rs886063066
NM_000370.3(TTPA):c.*496T>G rs565583075
NM_000370.3(TTPA):c.*595C>G rs760669854
NM_000370.3(TTPA):c.*817G>A rs975457415
NM_000370.3(TTPA):c.-1C>T rs1349901379
NM_000370.3(TTPA):c.123G>A (p.Pro41=) rs1368032681
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu) rs928983374
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile) rs2129795826
NM_000370.3(TTPA):c.144C>G (p.Thr48=) rs1805743504
NM_000370.3(TTPA):c.166C>T (p.Leu56=) rs1482746572
NM_000370.3(TTPA):c.177G>C (p.Arg59=) rs1805742361
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp) rs1554524054
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.552G>T (p.Thr184=) rs181109321
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter) rs1554605276
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile) rs1233515069
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro) rs2135324201
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.157G>C (p.Gly53Arg) rs1591133731
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1082G>A
NM_000382.3(ALDH3A2):c.*1184A>G
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1314T>C
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1628A>G
NM_000382.3(ALDH3A2):c.*1656C>T
NM_000382.3(ALDH3A2):c.*171A>G
NM_000382.3(ALDH3A2):c.*1721C>T
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1930C>T
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*330T>C
NM_000382.3(ALDH3A2):c.*377TG[2]
NM_000382.3(ALDH3A2):c.*378G>A
NM_000382.3(ALDH3A2):c.*439G>C
NM_000382.3(ALDH3A2):c.*630G>A
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*699A>G
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.*730T>A
NM_000382.3(ALDH3A2):c.*740G>C
NM_000382.3(ALDH3A2):c.-11A>G
NM_000382.3(ALDH3A2):c.-215C>T
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-67C>T
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=) rs1054840414
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=) rs1320588121
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=) rs773093556
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=) rs886052688
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del) rs746747637
NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser) rs753696173
NM_000414.4(HSD17B4):c.-75C>A rs26180
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser) rs143750360
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr)
NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr)
NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg)
NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val)
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr) rs2126781071
NM_000414.4(HSD17B4):c.1096G>A (p.Glu366Lys)
NM_000414.4(HSD17B4):c.1109A>T (p.Asp370Val)
NM_000414.4(HSD17B4):c.1136T>A (p.Val379Asp) rs1750957000
NM_000414.4(HSD17B4):c.1177G>A (p.Glu393Lys)
NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val)
NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr)
NM_000414.4(HSD17B4):c.1189C>A (p.Leu397Ile)
NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr) rs34959311
NM_000414.4(HSD17B4):c.1195A>G (p.Ile399Val)
NM_000414.4(HSD17B4):c.1209+5G>A rs749753383
NM_000414.4(HSD17B4):c.1209+5G>T
NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His)
NM_000414.4(HSD17B4):c.1271A>G (p.Lys424Arg) rs2126806471
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp) rs1282621174
NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val) rs200063597
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe) rs768553274
NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg)
NM_000414.4(HSD17B4):c.1354G>C (p.Glu452Gln)
NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys)
NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp)
NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser)
NM_000414.4(HSD17B4):c.1388T>C (p.Leu463Pro) rs2126814342
NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu)
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val) rs775297352
NM_000414.4(HSD17B4):c.1484A>T (p.Asp495Val) rs755720085
NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn)
NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg)
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000414.4(HSD17B4):c.1619C>A (p.Ser540Tyr)
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly) rs141517981
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val) rs1753560298
NM_000414.4(HSD17B4):c.1680G>C (p.Lys560Asn)
NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu)
NM_000414.4(HSD17B4):c.1724C>G (p.Thr575Ser)
NM_000414.4(HSD17B4):c.1767+5G>A rs1753684353
NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His)
NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)
NM_000414.4(HSD17B4):c.1819C>T (p.Pro607Ser)
NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln)
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser) rs1294462098
NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)
NM_000414.4(HSD17B4):c.1945G>A (p.Val649Ile)
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)
NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg)
NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser)
NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp)
NM_000414.4(HSD17B4):c.2065A>G (p.Ile689Val)
NM_000414.4(HSD17B4):c.2075A>G (p.Asp692Gly) rs2126915869
NM_000414.4(HSD17B4):c.2106G>T (p.Lys702Asn)
NM_000414.4(HSD17B4):c.2112C>A (p.Asp704Glu)
NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu) rs541911825
NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp)
NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile) rs2126934715
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys) rs1554062124
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.245T>C (p.Val82Ala)
NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg)
NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu)
NM_000414.4(HSD17B4):c.275G>T (p.Arg92Ile) rs754108630
NM_000414.4(HSD17B4):c.280+4A>G rs759020197
NM_000414.4(HSD17B4):c.280+4A>T
NM_000414.4(HSD17B4):c.280+5T>C rs2126684592
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
NM_000414.4(HSD17B4):c.338A>C (p.Asp113Ala)
NM_000414.4(HSD17B4):c.349+4A>G rs2126690458
NM_000414.4(HSD17B4):c.361A>G (p.Arg121Gly) rs1455328824
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) rs1748692405
NM_000414.4(HSD17B4):c.430G>A (p.Gly144Arg)
NM_000414.4(HSD17B4):c.434+5A>G
NM_000414.4(HSD17B4):c.442A>G (p.Met148Val) rs765174171
NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)
NM_000414.4(HSD17B4):c.491A>G (p.Tyr164Cys)
NM_000414.4(HSD17B4):c.529T>C (p.Ser177Pro)
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)
NM_000414.4(HSD17B4):c.59-3T>G
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln)
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser)
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe) rs1749881286
NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.742C>G (p.Arg248Gly) rs969485098
NM_000414.4(HSD17B4):c.74A>G (p.Tyr25Cys) rs2126610386
NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile)
NM_000414.4(HSD17B4):c.761G>A (p.Gly254Glu)
NM_000414.4(HSD17B4):c.784C>G (p.His262Asp)
NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala)
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser) rs146555135
NM_000414.4(HSD17B4):c.814A>G (p.Asn272Asp) rs2126758919
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val) rs1162207835
NM_000414.4(HSD17B4):c.842A>G (p.Asn281Ser) rs1750354718
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) rs1750354958
NM_000414.4(HSD17B4):c.847A>T (p.Ser283Cys)
NM_000414.4(HSD17B4):c.854C>T (p.Pro285Leu)
NM_000414.4(HSD17B4):c.860G>A (p.Ser287Asn)
NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile)
NM_000414.4(HSD17B4):c.925T>C (p.Ser309Pro)
NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr)
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) rs1167723109
NM_000426.4(LAMA2):c.1232G>C (p.Cys411Ser)
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr)
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) rs372574661
NM_000426.4(LAMA2):c.29T>A (p.Leu10His)
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) rs143215851
NM_000426.4(LAMA2):c.7753T>C (p.Tyr2585His) rs1784589986
NM_000426.4(LAMA2):c.8479T>A (p.Tyr2827Asn)
NM_000426.4(LAMA2):c.[2522G>A;2932G>A]
NM_000426.4(LAMA2):c.[533C>T;8733G>C]
NM_000441.1(SLC26A4):c.-40C>T rs1427132581
NM_000441.2(SLC26A4):c.*1558T>C rs1792362693
NM_000441.2(SLC26A4):c.*1563C>A rs943006929
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1672G>A rs1006081417
NM_000441.2(SLC26A4):c.*1700A>T rs1184586296
NM_000441.2(SLC26A4):c.*1789G>A rs190337640
NM_000441.2(SLC26A4):c.*1868C>G rs1037624606
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1945G>A rs75194818
NM_000441.2(SLC26A4):c.*201C>A rs761988423
NM_000441.2(SLC26A4):c.*2250_*2251del rs886061895
NM_000441.2(SLC26A4):c.*397T>C rs1792332700
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T rs780131226
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) rs1376210516
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1264-4C>T rs1488973035
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) rs1554359598
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1341+3A>C rs1216900843
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) rs1554359686
NM_000441.2(SLC26A4):c.1437+2dup rs1554359702
NM_000441.2(SLC26A4):c.1438-7del rs753586849
NM_000441.2(SLC26A4):c.1438-7dup rs753586849
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000441.2(SLC26A4):c.1448T>A (p.Val483Glu) rs745473179
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) rs1554352291
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) rs1554359973
NM_000441.2(SLC26A4):c.165-13T>G rs774685849
NM_000441.2(SLC26A4):c.165-3C>G rs1436250461
NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met) rs908303704
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) rs1790616677
NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr) rs747919826
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu) rs1554361014
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) rs1554361015
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys) rs876658003
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) rs1554361031
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2089+3A>G rs753682653
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) rs111033443
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) rs147733656
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del) rs1554362748
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) rs772522003
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=) rs1387758666
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2236-6T>C rs1409309832
NM_000441.2(SLC26A4):c.2263del (p.Thr755fs) rs1554363275
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer) rs767671344
NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del) rs1554363304
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.2320-1G>A rs1554363892
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr) rs1790885512
NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr) rs532132864
NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu) rs1790887971
NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg) rs1554354367
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile) rs1554354370
NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly) rs751256128
NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro) rs1554354382
NM_000441.2(SLC26A4):c.415+5_415+10del rs766751379
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.475G>A (p.Glu159Lys) rs1562823659
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) rs200229408
NM_000441.2(SLC26A4):c.515A>G (p.Asn172Ser) rs779996743
NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del) rs1554352212
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) rs1790957218
NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val) rs2129311931
NM_000441.2(SLC26A4):c.633A>G (p.Ile211Met)
NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala) rs1434359940
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.765+4A>C rs774353111
NM_000441.2(SLC26A4):c.765+4A>T rs774353111
NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala) rs775490005
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884
NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln) rs867212046
NM_000441.2(SLC26A4):c.977G>C (p.Gly326Ala) rs1791312931
NM_000445.5(PLEC):c.112C>T (p.Arg38Trp)
NM_000445.5(PLEC):c.115A>G (p.Ser39Gly)
NM_000445.5(PLEC):c.118C>G (p.Arg40Gly) rs781877536
NM_000445.5(PLEC):c.128G>C (p.Gly43Ala)
NM_000445.5(PLEC):c.131G>T (p.Gly44Val)
NM_000445.5(PLEC):c.144C>G (p.Ser48Arg)
NM_000445.5(PLEC):c.169G>A (p.Glu57Lys)
NM_000445.5(PLEC):c.172C>T (p.Arg58Trp)
NM_000445.5(PLEC):c.178G>A (p.Val60Ile) rs2133005910
NM_000445.5(PLEC):c.29C>T (p.Ala10Val)
NM_000445.5(PLEC):c.34T>A (p.Ser12Thr) rs1554745712
NM_000445.5(PLEC):c.40G>A (p.Asp14Asn) rs781915489
NM_000445.5(PLEC):c.50A>G (p.Asn17Ser) rs1554745695
NM_000445.5(PLEC):c.70A>T (p.Ser24Cys)
NM_000445.5(PLEC):c.7G>C (p.Gly3Arg)
NM_000445.5(PLEC):c.88C>T (p.Pro30Ser)
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.*241T>C rs886062499
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.-82C>G rs1169565016
NM_000466.3(PEX1):c.103C>T (p.Leu35Phe)
NM_000466.3(PEX1):c.1060T>C (p.Ser354Pro)
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.1081A>G (p.Met361Val) rs746906648
NM_000466.3(PEX1):c.108G>A (p.Val36=) rs2116298440
NM_000466.3(PEX1):c.1096G>C (p.Asp366His)
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr)
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn) rs2116243334
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr) rs1562866173
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly)
NM_000466.3(PEX1):c.1135G>A (p.Glu379Lys)
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser) rs540780825
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val)
NM_000466.3(PEX1):c.1156G>C (p.Val386Leu) rs2116242910
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly) rs1792836885
NM_000466.3(PEX1):c.1177G>A (p.Glu393Lys) rs2116242745
NM_000466.3(PEX1):c.1184A>T (p.Asn395Ile) rs1008956990
NM_000466.3(PEX1):c.1190C>T (p.Ala397Val) rs2116242607
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn)
NM_000466.3(PEX1):c.119A>G (p.His40Arg)
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala)
NM_000466.3(PEX1):c.1229G>A (p.Gly410Glu) rs2116242366
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1233A>G (p.Lys411=)
NM_000466.3(PEX1):c.1279C>A (p.His427Asn) rs2116221515
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr)
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.1323T>G (p.Ile441Met) rs2116221247
NM_000466.3(PEX1):c.1327A>G (p.Arg443Gly) rs2116221209
NM_000466.3(PEX1):c.1331C>T (p.Ser444Phe) rs1792597851
NM_000466.3(PEX1):c.1343A>T (p.Gln448Leu)
NM_000466.3(PEX1):c.1354A>C (p.Asn452His) rs2116220996
NM_000466.3(PEX1):c.1359+15A>G
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu)
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys) rs1040716320
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg)
NM_000466.3(PEX1):c.1417T>C (p.Ser473Pro) rs1474508557
NM_000466.3(PEX1):c.1429A>G (p.Met477Val)
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe)
NM_000466.3(PEX1):c.1445_1446insTGA (p.Ile482_Ser483insGlu) rs2116209401
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp) rs1793080526
NM_000466.3(PEX1):c.147_149del (p.Val50del)
NM_000466.3(PEX1):c.1484-4A>G
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln)
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg)
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp)
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del)
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr)
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly)
NM_000466.3(PEX1):c.1562A>G (p.Asn521Ser)
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val) rs1792432441
NM_000466.3(PEX1):c.1587+6A>G
NM_000466.3(PEX1):c.1588-7A>G
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1600C>G (p.Pro534Ala) rs1419015282
NM_000466.3(PEX1):c.1600C>T (p.Pro534Ser) rs1419015282
NM_000466.3(PEX1):c.1601C>G (p.Pro534Arg) rs983690128
NM_000466.3(PEX1):c.1603A>G (p.Met535Val)
NM_000466.3(PEX1):c.1605G>A (p.Met535Ile) rs2116195142
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys)
NM_000466.3(PEX1):c.1620C>T (p.Asn540=)
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu) rs1397315670
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser) rs1053943553
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg) rs751131750
NM_000466.3(PEX1):c.1647T>A (p.Pro549=)
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met)
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn)
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro) rs773827098
NM_000466.3(PEX1):c.1668G>C (p.Leu556Phe) rs1792345170
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1679A>G (p.Asn560Ser) rs2116181845
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) rs2116181769
NM_000466.3(PEX1):c.1702G>C (p.Glu568Gln)
NM_000466.3(PEX1):c.1716C>A (p.His572Gln) rs1792228135
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.1741C>T (p.Arg581Trp)
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1746G>C (p.Gln582His)
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr) rs1792225580
NM_000466.3(PEX1):c.1763C>T (p.Ala588Val) rs2116181053
NM_000466.3(PEX1):c.17G>T (p.Arg6Leu) rs1261327878
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val) rs2116176413
NM_000466.3(PEX1):c.1834A>G (p.Ile612Val)
NM_000466.3(PEX1):c.1867C>A (p.His623Asn) rs1792183513
NM_000466.3(PEX1):c.1873G>C (p.Glu625Gln) rs2116176145
NM_000466.3(PEX1):c.1875G>C (p.Glu625Asp) rs775491706
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr) rs1310822252
NM_000466.3(PEX1):c.1898G>A (p.Arg633Gln)
NM_000466.3(PEX1):c.1900+4T>C rs2116175794
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu)
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu)
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn)
NM_000466.3(PEX1):c.1933G>C (p.Glu645Gln)
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu)
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile)
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe)
NM_000466.3(PEX1):c.1975G>A (p.Val659Ile) rs193221288
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1978C>G (p.Leu660Val) rs2116165647
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn)
NM_000466.3(PEX1):c.199A>G (p.Ser67Gly)
NM_000466.3(PEX1):c.2012C>G (p.Pro671Arg)
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr)
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp) rs897278975
NM_000466.3(PEX1):c.2024A>G (p.Glu675Gly) rs1792100189
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr) rs2116165019
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu)
NM_000466.3(PEX1):c.2069A>G (p.His690Arg)
NM_000466.3(PEX1):c.2071+3A>G rs1189294296
NM_000466.3(PEX1):c.2072-12_2072-9del
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val) rs1792018651
NM_000466.3(PEX1):c.2093A>G (p.Glu698Gly) rs1792018002
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr) rs1792017598
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser)
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile)
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2145G>T (p.Gln715His) rs1292385792
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.217G>A (p.Val73Met)
NM_000466.3(PEX1):c.218T>C (p.Val73Ala) rs1793077054
NM_000466.3(PEX1):c.2215C>T (p.Pro739Ser)
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys)
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly)
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr)
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg)
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr)
NM_000466.3(PEX1):c.2284A>C (p.Asn762His)
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) rs767182250
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser)
NM_000466.3(PEX1):c.2312A>G (p.His771Arg) rs1791952164
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser)
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr) rs2116268284
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe)
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu)
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln)
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr)
NM_000466.3(PEX1):c.2384G>A (p.Arg795Gln) rs368954584
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr) rs1024476499
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2416+4T>C
NM_000466.3(PEX1):c.2417-5A>G
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe)
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu)
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr) rs2116145984
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg)
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu) rs2116145764
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln)
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro) rs752937649
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser)
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro)
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr)
NM_000466.3(PEX1):c.2506G>C (p.Asp836His)
NM_000466.3(PEX1):c.2536C>T (p.His846Tyr) rs2116145200
NM_000466.3(PEX1):c.2575C>A (p.Pro859Thr)
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.260C>T (p.Ser87Leu)
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val) rs545382069
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)
NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe) rs2116132673
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)
NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln) rs2116132462
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn) rs1791831263
NM_000466.3(PEX1):c.2701A>C (p.Asn901His)
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp) rs2116132179
NM_000466.3(PEX1):c.2719-4A>G
NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly)
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr) rs2116110846
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.2826T>G (p.Phe942Leu) rs756877568
NM_000466.3(PEX1):c.2848G>T (p.Gly950Cys) rs1791552137
NM_000466.3(PEX1):c.2854_2856del (p.Asp952del) rs762236071
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs) rs2116094537
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000466.3(PEX1):c.2879T>C (p.Val960Ala)
NM_000466.3(PEX1):c.287C>G (p.Pro96Arg) rs1562868017
NM_000466.3(PEX1):c.2912T>A (p.Val971Glu) rs745667444
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala) rs745667444
NM_000466.3(PEX1):c.2929G>A (p.Val977Ile)
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2951G>A (p.Ser984Asn)
NM_000466.3(PEX1):c.296A>T (p.His99Leu) rs1562868002
NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe) rs760620313
NM_000466.3(PEX1):c.2989G>C (p.Gly997Arg)
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile) rs1791529840
NM_000466.3(PEX1):c.300_302del (p.Val101del)
NM_000466.3(PEX1):c.3014G>C (p.Cys1005Ser) rs1367395648
NM_000466.3(PEX1):c.301G>A (p.Val101Ile) rs2116253380
NM_000466.3(PEX1):c.3030+12A>G rs1163936793
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3053A>G (p.Asn1018Ser)
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn) rs1330798276
NM_000466.3(PEX1):c.3068C>T (p.Ser1023Phe) rs547203417
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3080C>T (p.Ala1027Val)
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3115A>G (p.Thr1039Ala)
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.3120C>G (p.Asp1040Glu) rs2116078096
NM_000466.3(PEX1):c.3122C>T (p.Ser1041Phe)
NM_000466.3(PEX1):c.3151C>T (p.Leu1051Phe)
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr) rs1791428584
NM_000466.3(PEX1):c.3173C>G (p.Ala1058Gly)
NM_000466.3(PEX1):c.3176T>C (p.Leu1059Ser)
NM_000466.3(PEX1):c.317T>G (p.Val106Gly)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg) rs1230486358
NM_000466.3(PEX1):c.3194C>T (p.Ser1065Leu)
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg) rs1791427153
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys) rs1272833716
NM_000466.3(PEX1):c.31G>T (p.Gly11Trp)
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) rs1164302223
NM_000466.3(PEX1):c.323T>C (p.Val108Ala)
NM_000466.3(PEX1):c.3242T>C (p.Leu1081Pro) rs2116060032
NM_000466.3(PEX1):c.3271A>G (p.Ser1091Gly)
NM_000466.3(PEX1):c.3280G>A (p.Asp1094Asn)
NM_000466.3(PEX1):c.32G>T (p.Gly11Val)
NM_000466.3(PEX1):c.3340T>A (p.Ser1114Thr)
NM_000466.3(PEX1):c.3341C>T (p.Ser1114Phe)
NM_000466.3(PEX1):c.3379C>T (p.Arg1127Trp)
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr)
NM_000466.3(PEX1):c.3380G>A (p.Arg1127Gln)
NM_000466.3(PEX1):c.3395G>A (p.Ser1132Asn) rs2116057948
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr)
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3425C>A (p.Thr1142Asn)
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=) rs1585214175
NM_000466.3(PEX1):c.3439-5T>G
NM_000466.3(PEX1):c.3447A>T (p.Gln1149His) rs781059210
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg) rs1791190751
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
NM_000466.3(PEX1):c.3494C>T (p.Pro1165Leu)
NM_000466.3(PEX1):c.3502G>A (p.Asp1168Asn)
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala) rs182452430
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3549G>C (p.Glu1183Asp)
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) rs2116043736
NM_000466.3(PEX1):c.3585A>T (p.Gln1195His)
NM_000466.3(PEX1):c.35G>C (p.Gly12Ala) rs747408581
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn) rs1791175493
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu)
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile) rs574785174
NM_000466.3(PEX1):c.3618A>G (p.Arg1206=)
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3632G>A (p.Ser1211Asn)
NM_000466.3(PEX1):c.3634G>C (p.Gly1212Arg)
NM_000466.3(PEX1):c.3636+6G>C
NM_000466.3(PEX1):c.3697C>T (p.His1233Tyr)
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.370G>A (p.Val124Ile) rs1792895303
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile) rs1791136903
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3776G>C (p.Ser1259Thr)
NM_000466.3(PEX1):c.3781C>A (p.Gln1261Lys) rs2116022906
NM_000466.3(PEX1):c.3788C>A (p.Pro1263Gln)
NM_000466.3(PEX1):c.3788C>G (p.Pro1263Arg)
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys)
NM_000466.3(PEX1):c.3803dup (p.Asn1268fs) rs1293931061
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.3808A>C (p.Ser1270Arg)
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.385C>T (p.His129Tyr)
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
NM_000466.3(PEX1):c.400A>G (p.Ile134Val) rs1346290048
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu) rs1792891356
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys) rs1792889273
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+4G>A rs2116248481
NM_000466.3(PEX1):c.472+5G>A rs1792887658
NM_000466.3(PEX1):c.475G>A (p.Ala159Thr) rs372455445
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser) rs372455445
NM_000466.3(PEX1):c.487G>C (p.Ala163Pro) rs750376002
NM_000466.3(PEX1):c.515A>T (p.Asp172Val)
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.53C>T (p.Thr18Ile)
NM_000466.3(PEX1):c.545G>A (p.Arg182His)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro) rs199591182
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys) rs944593088
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
NM_000466.3(PEX1):c.608G>A (p.Gly203Glu) rs755103969
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg)
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu)
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
NM_000466.3(PEX1):c.642A>C (p.Gln214His) rs760441307
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg) rs1792871862
NM_000466.3(PEX1):c.652C>G (p.Leu218Val) rs1226753246
NM_000466.3(PEX1):c.686A>G (p.Asn229Ser)
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser) rs1793399605
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr)
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
NM_000466.3(PEX1):c.742A>C (p.Met248Leu)
NM_000466.3(PEX1):c.74G>A (p.Arg25His)
NM_000466.3(PEX1):c.851A>G (p.Asp284Gly)
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu) rs1792859390
NM_000466.3(PEX1):c.859T>G (p.Phe287Val) rs1792858913
NM_000466.3(PEX1):c.881C>G (p.Pro294Arg)
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser)
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.907A>G (p.Thr303Ala)
NM_000466.3(PEX1):c.920A>C (p.His307Pro)
NM_000466.3(PEX1):c.920A>G (p.His307Arg)
NM_000466.3(PEX1):c.927C>G (p.His309Gln) rs2116244426
NM_000466.3(PEX1):c.945T>G (p.Phe315Leu) rs1792852764
NM_000466.3(PEX1):c.947C>T (p.Pro316Leu) rs1296643317
NM_000466.3(PEX1):c.968A>T (p.Asp323Val)
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_000466.3(PEX1):c.973G>C (p.Glu325Gln)
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu) rs1341957716
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp)
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg) rs370441413
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000492.3(CFTR):c.-495C>T rs397507565
NM_000492.3(CFTR):c.-600dup rs747238661
NM_000492.3(CFTR):c.-674T>C rs1554372953
NM_000492.3(CFTR):c.-893_-891del rs780557040
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.4(CFTR):c.*5C>T
NM_000492.4(CFTR):c.*842del rs886061953
NM_000492.4(CFTR):c.-13C>A
NM_000492.4(CFTR):c.-1C>G
NM_000492.4(CFTR):c.-2C>T rs770363945
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.-439G>A rs1797962499
NM_000492.4(CFTR):c.-7A>T
NM_000492.4(CFTR):c.-8G>A rs1800501
NM_000492.4(CFTR):c.-8GA[4] rs1554373081
NM_000492.4(CFTR):c.-939A>G rs1584763860
NM_000492.4(CFTR):c.1009T>C (p.Phe337Leu) rs771716655
NM_000492.4(CFTR):c.1011C>G (p.Phe337Leu) rs1799029121
NM_000492.4(CFTR):c.1016C>A (p.Thr339Asn)
NM_000492.4(CFTR):c.1016C>G (p.Thr339Ser)
NM_000492.4(CFTR):c.1018A>G (p.Ile340Val)
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.4(CFTR):c.1028G>T (p.Cys343Phe)
NM_000492.4(CFTR):c.1039C>A (p.Arg347Ser)
NM_000492.4(CFTR):c.1043T>C (p.Met348Thr)
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1051A>G (p.Thr351Ala) rs1799031080
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1058A>G (p.Gln353Arg)
NM_000492.4(CFTR):c.1060T>C (p.Phe354Leu)
NM_000492.4(CFTR):c.1064C>T (p.Pro355Leu)
NM_000492.4(CFTR):c.1067G>C (p.Trp356Ser) rs573808767
NM_000492.4(CFTR):c.1073T>C (p.Val358Ala)
NM_000492.4(CFTR):c.1077A>G (p.Gln359=) rs761324191
NM_000492.4(CFTR):c.1079C>T (p.Thr360Ile)
NM_000492.4(CFTR):c.1084T>C (p.Tyr362His)
NM_000492.4(CFTR):c.1084T>G (p.Tyr362Asp)
NM_000492.4(CFTR):c.1085A>G (p.Tyr362Cys)
NM_000492.4(CFTR):c.1091C>G (p.Ser364Cys)
NM_000492.4(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.4(CFTR):c.1099G>A (p.Ala367Thr)
NM_000492.4(CFTR):c.109A>C (p.Ile37Leu)
NM_000492.4(CFTR):c.109A>G (p.Ile37Val) rs759721412
NM_000492.4(CFTR):c.110T>C (p.Ile37Thr)
NM_000492.4(CFTR):c.1113A>G (p.Ile371Met)
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg) rs1799033866
NM_000492.4(CFTR):c.1115A>T (p.Gln372Leu)
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1117-220_1117-4del rs2115881246
NM_000492.4(CFTR):c.1117-4A>G rs1799060630
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1117G>T (p.Asp373Tyr)
NM_000492.4(CFTR):c.1118A>T (p.Asp373Val)
NM_000492.4(CFTR):c.1126C>A (p.Gln376Lys) rs1562892823
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys) rs397508165
NM_000492.4(CFTR):c.1136A>G (p.Glu379Gly)
NM_000492.4(CFTR):c.113A>G (p.Tyr38Cys)
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.4(CFTR):c.1150G>A (p.Glu384Lys)
NM_000492.4(CFTR):c.1153T>A (p.Tyr385Asn)
NM_000492.4(CFTR):c.1153T>C (p.Tyr385His) rs1799062001
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys) rs1799062053
NM_000492.4(CFTR):c.1161A>C (p.Leu387Phe)
NM_000492.4(CFTR):c.1165A>T (p.Thr389Ser)
NM_000492.4(CFTR):c.1166C>T (p.Thr389Ile)
NM_000492.4(CFTR):c.116A>C (p.Gln39Pro)
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1177G>A (p.Val393Met)
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
NM_000492.4(CFTR):c.1178T>G (p.Val393Gly) rs1799062903
NM_000492.4(CFTR):c.117A>T (p.Gln39His) rs764522674
NM_000492.4(CFTR):c.1186A>G (p.Asn396Asp) rs753143757
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.4(CFTR):c.1189G>C (p.Val397Leu) rs1225700054
NM_000492.4(CFTR):c.1193C>A (p.Thr398Lys)
NM_000492.4(CFTR):c.1193C>T (p.Thr398Ile)
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.11C>T (p.Ser4Leu)
NM_000492.4(CFTR):c.1201T>C (p.Trp401Arg)
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1209+568A>G
NM_000492.4(CFTR):c.1209+80G>A rs948980243
NM_000492.4(CFTR):c.1210-11_1210-10insGTG
NM_000492.4(CFTR):c.1210-12_1210-11insGTG rs4148705
NM_000492.4(CFTR):c.1210-13_1210-11del rs2115902247
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-5A>G
NM_000492.4(CFTR):c.1210-6T>A rs763339686
NM_000492.4(CFTR):c.1210-6del rs1805177
NM_000492.4(CFTR):c.1210G>A (p.Gly404Arg)
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.4(CFTR):c.1217G>A (p.Gly406Glu) rs559197407
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.122C>G (p.Pro41Arg)
NM_000492.4(CFTR):c.1234G>T (p.Ala412Ser)
NM_000492.4(CFTR):c.1240C>A (p.Gln414Lys)
NM_000492.4(CFTR):c.1243A>G (p.Asn415Asp)
NM_000492.4(CFTR):c.1245_1247del (p.Asn418del) rs1554382616
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1255A>G (p.Arg419Gly)
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys) rs376039579
NM_000492.4(CFTR):c.1277A>G (p.Asp426Gly)
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg) rs1584793492
NM_000492.4(CFTR):c.1282C>A (p.Leu428Ile)
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
NM_000492.4(CFTR):c.1283T>A (p.Leu428His) rs2115903258
NM_000492.4(CFTR):c.1287C>A (p.Phe429Leu) rs763577850
NM_000492.4(CFTR):c.1291A>C (p.Ser431Arg)
NM_000492.4(CFTR):c.1295A>G (p.Asn432Ser)
NM_000492.4(CFTR):c.1299C>A (p.Phe433Leu) rs11531593
NM_000492.4(CFTR):c.1303C>G (p.Leu435Val)
NM_000492.4(CFTR):c.1304T>C (p.Leu435Pro)
NM_000492.4(CFTR):c.1309G>T (p.Gly437Cys)
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1318G>C (p.Val440Leu) rs1799213656
NM_000492.4(CFTR):c.131A>T (p.Asp44Val)
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1328A>T (p.Asp443Val)
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1332T>G (p.Ile444Met) rs1799214404
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val) rs1584793570
NM_000492.4(CFTR):c.1346A>G (p.Glu449Gly)
NM_000492.4(CFTR):c.1347A>T (p.Glu449Asp)
NM_000492.4(CFTR):c.1348A>G (p.Arg450Gly)
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
NM_000492.4(CFTR):c.1352G>T (p.Gly451Val) rs1554382653
NM_000492.4(CFTR):c.1355A>C (p.Gln452Pro) rs397508193
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA rs1554382656
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.136G>A (p.Ala46Thr) rs1584774381
NM_000492.4(CFTR):c.1370C>T (p.Ala457Val)
NM_000492.4(CFTR):c.1376C>T (p.Ser459Phe)
NM_000492.4(CFTR):c.1384G>A (p.Ala462Thr) rs1799216405
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp) rs1163866901
NM_000492.4(CFTR):c.1390A>C (p.Lys464Gln)
NM_000492.4(CFTR):c.1392+1498G>A
NM_000492.4(CFTR):c.1392G>A (p.Lys464=)
NM_000492.4(CFTR):c.1393-10T>C rs1799416100
NM_000492.4(CFTR):c.1393-2042A>G
NM_000492.4(CFTR):c.1393-3C>A
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1405A>T (p.Met469Leu)
NM_000492.4(CFTR):c.1409T>A (p.Val470Glu) rs1261167416
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1414A>G (p.Met472Val)
NM_000492.4(CFTR):c.1417G>A (p.Gly473Arg) rs1799417518
NM_000492.4(CFTR):c.1420G>C (p.Glu474Gln)
NM_000492.4(CFTR):c.1423C>G (p.Leu475Val)
NM_000492.4(CFTR):c.1430C>T (p.Pro477Leu) rs886044297
NM_000492.4(CFTR):c.1433C>T (p.Ser478Leu)
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1439G>T (p.Gly480Val)
NM_000492.4(CFTR):c.1441A>G (p.Lys481Glu)
NM_000492.4(CFTR):c.1444A>G (p.Ile482Val) rs1799418782
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1480T>G (p.Phe494Val)
NM_000492.4(CFTR):c.1484C>A (p.Ser495Tyr)
NM_000492.4(CFTR):c.1484C>G (p.Ser495Cys)
NM_000492.4(CFTR):c.1484C>T (p.Ser495Phe)
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1490T>G (p.Ile497Ser) rs1799421098
NM_000492.4(CFTR):c.1492A>G (p.Met498Val) rs1562898400
NM_000492.4(CFTR):c.1493T>C (p.Met498Thr)
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser) rs397508219
NM_000492.4(CFTR):c.1496C>T (p.Pro499Leu) rs1584798328
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1507A>G (p.Lys503Glu)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1528G>A (p.Val510Ile)
NM_000492.4(CFTR):c.1528G>T (p.Val510Phe) rs752955846
NM_000492.4(CFTR):c.1535A>G (p.Tyr512Cys) rs1048256995
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1541A>C (p.Glu514Ala)
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
NM_000492.4(CFTR):c.1542A>C (p.Glu514Asp)
NM_000492.4(CFTR):c.1543T>G (p.Tyr515Asp)
NM_000492.4(CFTR):c.1547G>T (p.Arg516Ile)
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
NM_000492.4(CFTR):c.1557C>G (p.Ser519Arg)
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.155A>T (p.Lys52Ile)
NM_000492.4(CFTR):c.1561A>C (p.Ile521Leu)
NM_000492.4(CFTR):c.1563C>G (p.Ile521Met)
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.1577T>C (p.Leu526Pro)
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
NM_000492.4(CFTR):c.1584+10206A>G
NM_000492.4(CFTR):c.1584+12309T>C
NM_000492.4(CFTR):c.1584+4A>T rs953352440
NM_000492.4(CFTR):c.1584+5G>C
NM_000492.4(CFTR):c.1584+6457A>C
NM_000492.4(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.4(CFTR):c.1585-11006A>G
NM_000492.4(CFTR):c.1585-11869_1585-11865del
NM_000492.4(CFTR):c.1585-2211A>T
NM_000492.4(CFTR):c.1585-7020G>A
NM_000492.4(CFTR):c.1585-9T>C rs397508234
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly) rs397508236
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) rs1584810152
NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)
NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)
NM_000492.4(CFTR):c.161A>C (p.Glu54Ala)
NM_000492.4(CFTR):c.161A>G (p.Glu54Gly)
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)
NM_000492.4(CFTR):c.163A>G (p.Arg55Gly)
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+5G>C rs2116635341
NM_000492.4(CFTR):c.164+6T>C
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
NM_000492.4(CFTR):c.164G>A (p.Arg55Lys)
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser) rs75549581
NM_000492.4(CFTR):c.1679+116G>T rs207468451
NM_000492.4(CFTR):c.1679+901C>T
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly) rs1554376387
NM_000492.4(CFTR):c.1680-19A>C
NM_000492.4(CFTR):c.1680-2dup rs1554389008
NM_000492.4(CFTR):c.1680-885T>C rs1281580863
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr) rs1226880376
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1685T>C (p.Val562Ala) rs1792006361
NM_000492.4(CFTR):c.1690A>G (p.Lys564Glu)
NM_000492.4(CFTR):c.1693G>T (p.Asp565Tyr)
NM_000492.4(CFTR):c.1697C>A (p.Ala566Asp) rs1375786834
NM_000492.4(CFTR):c.1699G>A (p.Asp567Asn)
NM_000492.4(CFTR):c.16C>G (p.Leu6Val) rs1554373095
NM_000492.4(CFTR):c.1700A>C (p.Asp567Ala) rs1562907186
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly) rs1792007322
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1735G>A (p.Asp579Asn)
NM_000492.4(CFTR):c.1738G>A (p.Val580Ile) rs2116025764
NM_000492.4(CFTR):c.173A>T (p.Asp58Val)
NM_000492.4(CFTR):c.1743A>T (p.Leu581Phe)
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
NM_000492.4(CFTR):c.1759T>A (p.Phe587Ile)
NM_000492.4(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1765A>C (p.Ser589Arg) rs917625450
NM_000492.4(CFTR):c.1766+3A>T rs397508298
NM_000492.4(CFTR):c.1769G>A (p.Cys590Tyr) rs1347776232
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.1789A>G (p.Asn597Asp)
NM_000492.4(CFTR):c.178G>C (p.Glu60Gln) rs77284892
NM_000492.4(CFTR):c.1801A>G (p.Ile601Val)
NM_000492.4(CFTR):c.1806G>T (p.Leu602Phe)
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1821G>A (p.Met607Ile)
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1840G>A (p.Asp614Asn) rs397508312
NM_000492.4(CFTR):c.1842C>A (p.Asp614Glu)
NM_000492.4(CFTR):c.1844A>G (p.Lys615Arg)
NM_000492.4(CFTR):c.1846A>G (p.Ile616Val)
NM_000492.4(CFTR):c.1848A>G (p.Ile616Met)
NM_000492.4(CFTR):c.1849_1851del (p.Leu617del)
NM_000492.4(CFTR):c.184G>A (p.Ala62Thr) rs1584776330
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro) rs1584776330
NM_000492.4(CFTR):c.184G>T (p.Ala62Ser) rs1584776330
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser) rs397508313
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1870A>T (p.Ser624Cys)
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
NM_000492.4(CFTR):c.1874A>C (p.Tyr625Ser)
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1888T>C (p.Phe630Leu)
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1902A>C (p.Gln634His)
NM_000492.4(CFTR):c.1905T>A (p.Asn635Lys)
NM_000492.4(CFTR):c.1909C>A (p.Gln637Lys) rs397508320
NM_000492.4(CFTR):c.190A>G (p.Lys64Glu)
NM_000492.4(CFTR):c.1915G>C (p.Asp639His)
NM_000492.4(CFTR):c.1920T>G (p.Phe640Leu)
NM_000492.4(CFTR):c.1927A>C (p.Lys643Gln)
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr) rs377731410
NM_000492.4(CFTR):c.1935G>A (p.Met645Ile)
NM_000492.4(CFTR):c.1936G>A (p.Gly646Arg) rs1562907873
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.1955A>C (p.Gln652Pro)
NM_000492.4(CFTR):c.1960A>T (p.Ser654Cys) rs1800099
NM_000492.4(CFTR):c.1962T>G (p.Ser654Arg)
NM_000492.4(CFTR):c.1964C>T (p.Ala655Val)
NM_000492.4(CFTR):c.1966G>C (p.Glu656Gln)
NM_000492.4(CFTR):c.1967A>G (p.Glu656Gly)
NM_000492.4(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.4(CFTR):c.1970G>A (p.Arg657Lys)
NM_000492.4(CFTR):c.1981A>G (p.Ile661Val) rs777973729
NM_000492.4(CFTR):c.1990G>C (p.Glu664Gln)
NM_000492.4(CFTR):c.1992G>T (p.Glu664Asp) rs1792036683
NM_000492.4(CFTR):c.1999C>T (p.His667Tyr)
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2003G>A (p.Arg668His)
NM_000492.4(CFTR):c.2005T>C (p.Phe669Leu) rs2116031296
NM_000492.4(CFTR):c.2009C>T (p.Ser670Leu)
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
NM_000492.4(CFTR):c.2015_2017del (p.Glu672del) rs397508330
NM_000492.4(CFTR):c.2017G>A (p.Gly673Arg)
NM_000492.4(CFTR):c.2020G>T (p.Asp674Tyr)
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala) rs762888022
NM_000492.4(CFTR):c.2026C>T (p.Pro676Ser)
NM_000492.4(CFTR):c.2033C>T (p.Ser678Phe)
NM_000492.4(CFTR):c.2035T>C (p.Trp679Arg)
NM_000492.4(CFTR):c.2045C>A (p.Thr682Lys)
NM_000492.4(CFTR):c.2052A>T (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.2054A>C (p.Gln685Pro)
NM_000492.4(CFTR):c.205C>A (p.Leu69Ile) rs372421038
NM_000492.4(CFTR):c.2066A>C (p.Gln689Pro)
NM_000492.4(CFTR):c.2072G>T (p.Gly691Val)
NM_000492.4(CFTR):c.2075A>T (p.Glu692Val)
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.4(CFTR):c.2083G>A (p.Glu695Lys)
NM_000492.4(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.4(CFTR):c.208A>G (p.Ile70Val)
NM_000492.4(CFTR):c.2096A>T (p.Asn699Ile)
NM_000492.4(CFTR):c.2098T>C (p.Ser700Pro)
NM_000492.4(CFTR):c.2099C>A (p.Ser700Tyr)
NM_000492.4(CFTR):c.2107A>G (p.Asn703Asp)
NM_000492.4(CFTR):c.2108A>C (p.Asn703Thr)
NM_000492.4(CFTR):c.2108A>T (p.Asn703Ile)
NM_000492.4(CFTR):c.2123T>C (p.Ile708Thr)
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly) rs121908760
NM_000492.4(CFTR):c.2129A>G (p.Lys710Arg) rs2116032036
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser) rs1003610229
NM_000492.4(CFTR):c.2131T>C (p.Phe711Leu) rs1792042320
NM_000492.4(CFTR):c.2137A>G (p.Ile713Val)
NM_000492.4(CFTR):c.2140G>T (p.Val714Leu) rs774199624
NM_000492.4(CFTR):c.2143C>G (p.Gln715Glu)
NM_000492.4(CFTR):c.2145A>G (p.Gln715=)
NM_000492.4(CFTR):c.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln) rs2116032118
NM_000492.4(CFTR):c.2152C>T (p.Pro718Ser)
NM_000492.4(CFTR):c.215C>G (p.Ala72Gly)
NM_000492.4(CFTR):c.2166T>A (p.Asn722Lys)
NM_000492.4(CFTR):c.2170A>C (p.Ile724Leu)
NM_000492.4(CFTR):c.2171T>C (p.Ile724Thr)
NM_000492.4(CFTR):c.2179G>T (p.Asp727Tyr)
NM_000492.4(CFTR):c.2183C>T (p.Ser728Phe) rs1584812535
NM_000492.4(CFTR):c.2185G>C (p.Asp729His)
NM_000492.4(CFTR):c.2186A>C (p.Asp729Ala)
NM_000492.4(CFTR):c.2188G>A (p.Glu730Lys)
NM_000492.4(CFTR):c.2189A>C (p.Glu730Ala)
NM_000492.4(CFTR):c.2192C>G (p.Pro731Arg)
NM_000492.4(CFTR):c.2192C>T (p.Pro731Leu)
NM_000492.4(CFTR):c.2200A>G (p.Arg734Gly)
NM_000492.4(CFTR):c.2205G>C (p.Arg735Ser) rs2116032368
NM_000492.4(CFTR):c.2225C>T (p.Ser742Phe)
NM_000492.4(CFTR):c.2231A>C (p.Gln744Pro)
NM_000492.4(CFTR):c.2231A>G (p.Gln744Arg)
NM_000492.4(CFTR):c.2238G>C (p.Glu746Asp)
NM_000492.4(CFTR):c.2240C>A (p.Ala747Glu)
NM_000492.4(CFTR):c.2248C>A (p.Pro750Thr)
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.2254A>C (p.Ile752Leu)
NM_000492.4(CFTR):c.2254A>T (p.Ile752Phe)
NM_000492.4(CFTR):c.2267G>T (p.Ser756Ile)
NM_000492.4(CFTR):c.226T>A (p.Cys76Ser) rs757959325
NM_000492.4(CFTR):c.2270C>G (p.Thr757Ser)
NM_000492.4(CFTR):c.2270C>T (p.Thr757Ile)
NM_000492.4(CFTR):c.2275C>A (p.Pro759Thr)
NM_000492.4(CFTR):c.2278A>G (p.Thr760Ala)
NM_000492.4(CFTR):c.227G>T (p.Cys76Phe)
NM_000492.4(CFTR):c.2281C>A (p.Leu761Ile)
NM_000492.4(CFTR):c.2287G>A (p.Ala763Thr) rs2116032836
NM_000492.4(CFTR):c.2287G>T (p.Ala763Ser)
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) rs777536750
NM_000492.4(CFTR):c.2293A>G (p.Arg765Gly)
NM_000492.4(CFTR):c.2294G>A (p.Arg765Lys)
NM_000492.4(CFTR):c.2297G>C (p.Arg766Thr)
NM_000492.4(CFTR):c.2312A>G (p.Asn771Ser)
NM_000492.4(CFTR):c.2321C>G (p.Thr774Arg)
NM_000492.4(CFTR):c.2341C>G (p.Gln781Glu)
NM_000492.4(CFTR):c.2342A>G (p.Gln781Arg)
NM_000492.4(CFTR):c.2347A>G (p.Ile783Val)
NM_000492.4(CFTR):c.2348T>G (p.Ile783Ser)
NM_000492.4(CFTR):c.2350C>G (p.His784Asp)
NM_000492.4(CFTR):c.2353C>G (p.Arg785Gly)
NM_000492.4(CFTR):c.2354G>C (p.Arg785Pro)
NM_000492.4(CFTR):c.2354G>T (p.Arg785Leu)
NM_000492.4(CFTR):c.2358G>C (p.Lys786Asn)
NM_000492.4(CFTR):c.2360C>A (p.Thr787Lys) rs2116033185
NM_000492.4(CFTR):c.2379A>T (p.Lys793Asn)
NM_000492.4(CFTR):c.2380G>C (p.Val794Leu)
NM_000492.4(CFTR):c.2381T>A (p.Val794Glu)
NM_000492.4(CFTR):c.2387T>A (p.Leu796Gln)
NM_000492.4(CFTR):c.2389G>T (p.Ala797Ser)
NM_000492.4(CFTR):c.2393C>G (p.Pro798Arg)
NM_000492.4(CFTR):c.2395C>A (p.Gln799Lys)
NM_000492.4(CFTR):c.2399C>A (p.Ala800Glu)
NM_000492.4(CFTR):c.2399C>T (p.Ala800Val)
NM_000492.4(CFTR):c.239G>C (p.Arg80Thr)
NM_000492.4(CFTR):c.2402A>T (p.Asn801Ile)
NM_000492.4(CFTR):c.2403C>G (p.Asn801Lys)
NM_000492.4(CFTR):c.2404T>G (p.Leu802Val)
NM_000492.4(CFTR):c.2418T>A (p.Asp806Glu)
NM_000492.4(CFTR):c.241T>C (p.Phe81Leu)
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.4(CFTR):c.2426C>T (p.Ser809Leu)
NM_000492.4(CFTR):c.2427AAG[1] (p.Arg811del) rs1554389478
NM_000492.4(CFTR):c.242T>A (p.Phe81Tyr) rs1798471062
NM_000492.4(CFTR):c.2430A>T (p.Arg810Ser)
NM_000492.4(CFTR):c.2434T>A (p.Leu812Ile)
NM_000492.4(CFTR):c.243T>G (p.Phe81Leu)
NM_000492.4(CFTR):c.2446A>C (p.Thr816Pro)
NM_000492.4(CFTR):c.244A>G (p.Met82Val) rs1554376431
NM_000492.4(CFTR):c.2452T>G (p.Leu818Val)
NM_000492.4(CFTR):c.2458A>C (p.Ile820Leu)
NM_000492.4(CFTR):c.2458A>G (p.Ile820Val)
NM_000492.4(CFTR):c.2462G>A (p.Ser821Asn)
NM_000492.4(CFTR):c.2470A>G (p.Ile824Val)
NM_000492.4(CFTR):c.2472T>G (p.Ile824Met)
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser) rs1398481391
NM_000492.4(CFTR):c.2478AGA[1] (p.Glu827del) rs2116034014
NM_000492.4(CFTR):c.2483A>G (p.Asp828Gly)
NM_000492.4(CFTR):c.2490+1083C>T
NM_000492.4(CFTR):c.2490+4_2490+6dup rs1554389497
NM_000492.4(CFTR):c.2490+4_2490+7del
NM_000492.4(CFTR):c.2490+7A>G rs751864459
NM_000492.4(CFTR):c.2490G>A (p.Lys830=)
NM_000492.4(CFTR):c.249C>G (p.Phe83Leu)
NM_000492.4(CFTR):c.2503G>A (p.Asp835Asn) rs2116039305
NM_000492.4(CFTR):c.2503G>T (p.Asp835Tyr)
NM_000492.4(CFTR):c.2515A>C (p.Ser839Arg) rs2116039371
NM_000492.4(CFTR):c.2515A>G (p.Ser839Gly)
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
NM_000492.4(CFTR):c.2528T>A (p.Val843Glu)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2533A>C (p.Thr845Pro)
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.253_255del (p.Gly85del)
NM_000492.4(CFTR):c.2543C>G (p.Thr848Arg)
NM_000492.4(CFTR):c.2545T>A (p.Tyr849Asn) rs757165481
NM_000492.4(CFTR):c.2546A>G (p.Tyr849Cys) rs780811333
NM_000492.4(CFTR):c.2549T>G (p.Leu850Arg)
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2561C>T (p.Thr854Ile)
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.2566_2567insTAC (p.Val855_His856insLeu) rs774507425
NM_000492.4(CFTR):c.2570A>G (p.Lys857Arg) rs1584813860
NM_000492.4(CFTR):c.2573G>A (p.Ser858Asn) rs2116039677
NM_000492.4(CFTR):c.2578A>G (p.Ile860Val)
NM_000492.4(CFTR):c.2579T>C (p.Ile860Thr)
NM_000492.4(CFTR):c.257T>A (p.Ile86Asn) rs1798471787
NM_000492.4(CFTR):c.2584G>A (p.Val862Met)
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
NM_000492.4(CFTR):c.2598C>G (p.Cys866Trp)
NM_000492.4(CFTR):c.2606T>G (p.Ile869Ser)
NM_000492.4(CFTR):c.2614G>A (p.Ala872Thr) rs2116039854
NM_000492.4(CFTR):c.2617G>A (p.Glu873Lys)
NM_000492.4(CFTR):c.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2619G>A (p.Glu873=) rs397508409
NM_000492.4(CFTR):c.2620-12G>T
NM_000492.4(CFTR):c.2620G>A (p.Val874Met)
NM_000492.4(CFTR):c.2624C>T (p.Ala875Val)
NM_000492.4(CFTR):c.2626G>A (p.Ala876Thr) rs1328356747
NM_000492.4(CFTR):c.2626G>T (p.Ala876Ser)
NM_000492.4(CFTR):c.2634G>C (p.Leu878Phe)
NM_000492.4(CFTR):c.2636T>A (p.Val879Asp)
NM_000492.4(CFTR):c.2636T>C (p.Val879Ala)
NM_000492.4(CFTR):c.2642T>C (p.Leu881Pro)
NM_000492.4(CFTR):c.2657+17C>T rs368543375
NM_000492.4(CFTR):c.2657+3G>C
NM_000492.4(CFTR):c.2657+3G>T
NM_000492.4(CFTR):c.2658-12T>G
NM_000492.4(CFTR):c.2663C>A (p.Pro888His)
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2677G>A (p.Gly893Arg)
NM_000492.4(CFTR):c.2681A>C (p.Asn894Thr)
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
NM_000492.4(CFTR):c.2683A>G (p.Ser895Gly) rs1792256745
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer) rs397508420
NM_000492.4(CFTR):c.2692A>G (p.Ser898Gly)
NM_000492.4(CFTR):c.2695A>G (p.Arg899Gly)
NM_000492.4(CFTR):c.2702A>T (p.Asn901Ile)
NM_000492.4(CFTR):c.2705G>C (p.Ser902Thr) rs2116061306
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.2717T>A (p.Ile906Asn)
NM_000492.4(CFTR):c.2719A>G (p.Ile907Val) rs397508423
NM_000492.4(CFTR):c.2720T>A (p.Ile907Asn)
NM_000492.4(CFTR):c.2725A>G (p.Ser909Gly)
NM_000492.4(CFTR):c.2729C>G (p.Thr910Ser)
NM_000492.4(CFTR):c.273+7334T>C
NM_000492.4(CFTR):c.273+8304C>T
NM_000492.4(CFTR):c.273+8T>A rs1189108407
NM_000492.4(CFTR):c.2734T>A (p.Ser912Thr) rs1554390984
NM_000492.4(CFTR):c.274-1407T>G
NM_000492.4(CFTR):c.274-3T>C rs1554379763
NM_000492.4(CFTR):c.274-5T>A rs1454461758
NM_000492.4(CFTR):c.274-8043A>G
NM_000492.4(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.4(CFTR):c.2752A>C (p.Ile918Leu)
NM_000492.4(CFTR):c.2752A>T (p.Ile918Phe) rs1267646551
NM_000492.4(CFTR):c.2755T>A (p.Tyr919Asn) rs1033530699
NM_000492.4(CFTR):c.2758G>C (p.Val920Leu)
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000492.4(CFTR):c.2762G>T (p.Gly921Val) rs193922508
NM_000492.4(CFTR):c.2764G>A (p.Val922Ile) rs1792259336
NM_000492.4(CFTR):c.2764G>C (p.Val922Leu)
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2770G>C (p.Asp924His) rs201759207
NM_000492.4(CFTR):c.2773A>G (p.Thr925Ala) rs1423162478
NM_000492.4(CFTR):c.2774C>A (p.Thr925Asn)
NM_000492.4(CFTR):c.2774C>G (p.Thr925Ser)
NM_000492.4(CFTR):c.2774C>T (p.Thr925Ile)
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2787G>A (p.Met929Ile)
NM_000492.4(CFTR):c.278T>A (p.Val93Asp)
NM_000492.4(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.4(CFTR):c.2806C>T (p.Pro936Ser)
NM_000492.4(CFTR):c.2807C>T (p.Pro936Leu)
NM_000492.4(CFTR):c.2809C>G (p.Leu937Val)
NM_000492.4(CFTR):c.280A>C (p.Thr94Pro) rs1434378124
NM_000492.4(CFTR):c.2810T>C (p.Leu937Pro)
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2819C>T (p.Thr940Ile)
NM_000492.4(CFTR):c.2830G>C (p.Val944Leu)
NM_000492.4(CFTR):c.2836A>C (p.Lys946Gln)
NM_000492.4(CFTR):c.2840T>C (p.Ile947Thr)
NM_000492.4(CFTR):c.2844A>C (p.Leu948Phe)
NM_000492.4(CFTR):c.2848C>T (p.His950Tyr)
NM_000492.4(CFTR):c.284A>G (p.Lys95Arg)
NM_000492.4(CFTR):c.2851A>G (p.Lys951Glu)
NM_000492.4(CFTR):c.2854A>G (p.Met952Val)
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
NM_000492.4(CFTR):c.2861A>G (p.His954Arg)
NM_000492.4(CFTR):c.2863T>G (p.Ser955Ala) rs1584817978
NM_000492.4(CFTR):c.2881A>G (p.Met961Val)
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
NM_000492.4(CFTR):c.2890C>T (p.Leu964Phe)
NM_000492.4(CFTR):c.2894A>G (p.Asn965Ser)
NM_000492.4(CFTR):c.2906C>G (p.Ala969Gly)
NM_000492.4(CFTR):c.2906C>T (p.Ala969Val) rs936934088
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
NM_000492.4(CFTR):c.2908+3A>C rs1554391091
NM_000492.4(CFTR):c.2908+3_2908+14del
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-4A>G rs397508457
NM_000492.4(CFTR):c.2909-8_2909-7insTAAT rs1554391448
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.4(CFTR):c.2928C>A (p.Phe976Leu)
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2933A>G (p.Lys978Arg)
NM_000492.4(CFTR):c.2935G>T (p.Asp979Tyr)
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.4(CFTR):c.2942C>A (p.Ala981Glu)
NM_000492.4(CFTR):c.2950G>A (p.Asp984Asn) rs764644021
NM_000492.4(CFTR):c.2951A>T (p.Asp984Val)
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) rs1031657153
NM_000492.4(CFTR):c.2963C>T (p.Pro988Leu) rs1792306616
NM_000492.4(CFTR):c.2974T>C (p.Phe992Leu) rs1043006335
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2988+33G>T
NM_000492.4(CFTR):c.2989-3C>G rs397508471
NM_000492.4(CFTR):c.2989-3C>T
NM_000492.4(CFTR):c.298C>T (p.Leu100Phe)
NM_000492.4(CFTR):c.2991_2993del
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile) rs2116080345
NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)
NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)
NM_000492.4(CFTR):c.299T>A (p.Leu100His)
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.4(CFTR):c.29G>C (p.Ser10Thr) rs762241850
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) rs193922731
NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)
NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser) rs978796108
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr) rs397508491
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu) rs144441835
NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)
NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)
NM_000492.4(CFTR):c.3071T>A (p.Val1024Glu)
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)
NM_000492.4(CFTR):c.307G>A (p.Gly103Arg) rs1584784895
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
NM_000492.4(CFTR):c.3092C>G (p.Ala1031Gly)
NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe) rs1554392043
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro)
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg) rs1792369943
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.310A>G (p.Arg104Gly)
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup) rs1469768894
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.311G>C (p.Arg104Thr)
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg) rs1562914220
NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe) rs1584821736
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser) rs397508504
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.4(CFTR):c.313A>C (p.Ile105Leu) rs758675549
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3140-4A>G rs397508507
NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)
NM_000492.4(CFTR):c.3148C>A (p.Pro1050Thr)
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser) rs1792386620
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
NM_000492.4(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu) rs1244798983
NM_000492.4(CFTR):c.317T>C (p.Ile106Thr)
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro) rs2116084329
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro) rs121909020
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly) rs1800114
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser) rs1584822281
NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)
NM_000492.4(CFTR):c.3226A>C (p.Thr1076Pro)
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
NM_000492.4(CFTR):c.322T>C (p.Ser108Pro)
NM_000492.4(CFTR):c.3235C>T (p.His1079Tyr)
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys) rs1584822326
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro) rs79635528
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) rs373043500
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile) rs77958296
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)
NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)
NM_000492.4(CFTR):c.328G>A (p.Asp110Asn) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly) rs397508531
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) rs777445862
NM_000492.4(CFTR):c.3306A>C (p.Arg1102Ser)
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile) rs1792392768
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)
NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del) rs1562914829
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser) rs1792393459
NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)
NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)
NM_000492.4(CFTR):c.3349A>G (p.Ile1117Val)
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del) rs1554392295
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala) rs1584822533
NM_000492.4(CFTR):c.3367+3A>G rs1194763712
NM_000492.4(CFTR):c.3367+6A>G rs397508545
NM_000492.4(CFTR):c.3368-19G>C
NM_000492.4(CFTR):c.3368-3T>C rs2116096154
NM_000492.4(CFTR):c.3368-4A>G rs748811222
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3374G>A (p.Gly1125Glu)
NM_000492.4(CFTR):c.3385G>A (p.Val1129Ile)
NM_000492.4(CFTR):c.3385G>C (p.Val1129Leu) rs2116096247
NM_000492.4(CFTR):c.3388G>A (p.Gly1130Ser)
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3392T>C (p.Ile1131Thr)
NM_000492.4(CFTR):c.3401C>A (p.Thr1134Asn)
NM_000492.4(CFTR):c.3411G>C (p.Met1137Ile)
NM_000492.4(CFTR):c.3413A>G (p.Asn1138Ser)
NM_000492.4(CFTR):c.3418A>T (p.Met1140Leu)
NM_000492.4(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.4(CFTR):c.3428T>C (p.Leu1143Ser)
NM_000492.4(CFTR):c.342G>C (p.Lys114Asn)
NM_000492.4(CFTR):c.3437C>T (p.Ala1146Val)
NM_000492.4(CFTR):c.3449G>C (p.Ser1150Thr) rs1792458131
NM_000492.4(CFTR):c.3452T>A (p.Ile1151Lys) rs1584824269
NM_000492.4(CFTR):c.3460G>A (p.Asp1154Asn) rs397508568
NM_000492.4(CFTR):c.3460G>T (p.Asp1154Tyr) rs397508568
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3468+3566G>A
NM_000492.4(CFTR):c.3468+6041A>G
NM_000492.4(CFTR):c.3469-1G>T
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.3469-5T>C
NM_000492.4(CFTR):c.346G>C (p.Glu116Gln) rs397508571
NM_000492.4(CFTR):c.3471G>A (p.Met1157Ile)
NM_000492.4(CFTR):c.3481A>G (p.Ser1161Gly)
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3487G>A (p.Val1163Ile)
NM_000492.4(CFTR):c.3494A>C (p.Lys1165Thr) rs753508195
NM_000492.4(CFTR):c.3498C>G (p.Phe1166Leu) rs1792670307
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.3500T>A (p.Ile1167Asn) rs2116129005
NM_000492.4(CFTR):c.3505A>G (p.Met1169Val)
NM_000492.4(CFTR):c.3508C>T (p.Pro1170Ser) rs1792670534
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3514G>C (p.Glu1172Gln)
NM_000492.4(CFTR):c.3518G>A (p.Gly1173Asp)
NM_000492.4(CFTR):c.3523C>T (p.Pro1175Ser)
NM_000492.4(CFTR):c.3524C>T (p.Pro1175Leu)
NM_000492.4(CFTR):c.3527C>G (p.Thr1176Ser)
NM_000492.4(CFTR):c.3529A>G (p.Lys1177Glu) rs397508578
NM_000492.4(CFTR):c.3532T>A (p.Ser1178Thr)
NM_000492.4(CFTR):c.3544T>C (p.Tyr1182His) rs770167300
NM_000492.4(CFTR):c.3559C>A (p.Leu1187Ile)
NM_000492.4(CFTR):c.3559C>G (p.Leu1187Val)
NM_000492.4(CFTR):c.3559C>T (p.Leu1187Phe)
NM_000492.4(CFTR):c.3563C>T (p.Ser1188Leu) rs1036123285
NM_000492.4(CFTR):c.3568G>A (p.Val1190Ile)
NM_000492.4(CFTR):c.356T>A (p.Ile119Asn)
NM_000492.4(CFTR):c.356T>G (p.Ile119Ser)
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile) rs1359962349
NM_000492.4(CFTR):c.3574A>T (p.Ile1192Phe) rs1792672546
NM_000492.4(CFTR):c.3578T>C (p.Ile1193Thr)
NM_000492.4(CFTR):c.3585T>A (p.Asn1195Lys)
NM_000492.4(CFTR):c.3590A>G (p.His1197Arg) rs765133036
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.3595A>C (p.Lys1199Gln)
NM_000492.4(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.4(CFTR):c.3600A>T (p.Lys1200Asn)
NM_000492.4(CFTR):c.3605A>G (p.Asp1202Gly)
NM_000492.4(CFTR):c.3611G>T (p.Trp1204Leu)
NM_000492.4(CFTR):c.3614C>A (p.Pro1205His)
NM_000492.4(CFTR):c.3614C>G (p.Pro1205Arg)
NM_000492.4(CFTR):c.361A>G (p.Ile121Val) rs574654063
NM_000492.4(CFTR):c.3623G>C (p.Gly1208Ala)
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu) rs151264397
NM_000492.4(CFTR):c.3628A>T (p.Met1210Leu)
NM_000492.4(CFTR):c.3637A>C (p.Lys1213Gln)
NM_000492.4(CFTR):c.3637A>G (p.Lys1213Glu)
NM_000492.4(CFTR):c.3641A>G (p.Asp1214Gly)
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val) rs1792675407
NM_000492.4(CFTR):c.364T>A (p.Tyr122Asn) rs397508592
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3676A>G (p.Ile1226Val) rs2116129961
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3688A>G (p.Ile1230Val)
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) rs1792676456
NM_000492.4(CFTR):c.3697T>C (p.Ser1233Pro)
NM_000492.4(CFTR):c.3706C>G (p.Pro1236Ala)
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=) rs1316425599
NM_000492.4(CFTR):c.3717+14A>G
NM_000492.4(CFTR):c.3717+3055_3717+3064delinsTGTCTCAGTGGGTGGGAAAGGGTGTCTCAGA
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3717+6029A>G
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.4(CFTR):c.3718-3598C>T rs2116156664
NM_000492.4(CFTR):c.3718-3T>C
NM_000492.4(CFTR):c.3718G>T (p.Val1240Leu)
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.371G>A (p.Gly124Asp)
NM_000492.4(CFTR):c.3721G>A (p.Gly1241Ser)
NM_000492.4(CFTR):c.3722G>A (p.Gly1241Asp)
NM_000492.4(CFTR):c.3724C>T (p.Leu1242Phe)
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)
NM_000492.4(CFTR):c.3728T>G (p.Leu1243Trp)
NM_000492.4(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.4(CFTR):c.3740G>A (p.Gly1247Glu)
NM_000492.4(CFTR):c.3740G>T (p.Gly1247Val)
NM_000492.4(CFTR):c.3749_3751dup (p.Lys1250dup) rs1584836961
NM_000492.4(CFTR):c.3752G>C (p.Ser1251Thr)
NM_000492.4(CFTR):c.3759G>T (p.Leu1253Phe)
NM_000492.4(CFTR):c.375A>G (p.Ile125Met)
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.4(CFTR):c.3767C>G (p.Ala1256Gly) rs773852510
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr) rs1470171438
NM_000492.4(CFTR):c.3779T>C (p.Leu1260Pro)
NM_000492.4(CFTR):c.377G>C (p.Gly126Ala) rs397508609
NM_000492.4(CFTR):c.3782T>G (p.Leu1261Arg)
NM_000492.4(CFTR):c.3787A>G (p.Thr1263Ala) rs1554395363
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu) rs1554395370
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
NM_000492.4(CFTR):c.379T>C (p.Leu127=) rs2116670348
NM_000492.4(CFTR):c.3800T>A (p.Ile1267Asn)
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
NM_000492.4(CFTR):c.3807C>G (p.Ile1269Met) rs1800129
NM_000492.4(CFTR):c.3811G>A (p.Gly1271Ser)
NM_000492.4(CFTR):c.3815T>G (p.Val1272Gly)
NM_000492.4(CFTR):c.3824A>G (p.Asp1275Gly)
NM_000492.4(CFTR):c.3829A>G (p.Ile1277Val)
NM_000492.4(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.4(CFTR):c.3837G>T (p.Leu1279Phe)
NM_000492.4(CFTR):c.3842A>C (p.Gln1281Pro)
NM_000492.4(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys) rs77902683
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) rs1792935893
NM_000492.4(CFTR):c.3853G>A (p.Ala1285Thr) rs868174013
NM_000492.4(CFTR):c.3854C>G (p.Ala1285Gly)
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys) rs121909028
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) rs1792936385
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
NM_000492.4(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.4(CFTR):c.3869C>T (p.Pro1290Leu)
NM_000492.4(CFTR):c.386T>C (p.Leu129Pro)
NM_000492.4(CFTR):c.386T>G (p.Leu129Arg)
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+5G>A
NM_000492.4(CFTR):c.3874-27TTC[2] rs397508623
NM_000492.4(CFTR):c.3874-3828G>T
NM_000492.4(CFTR):c.3874-3854C>G
NM_000492.4(CFTR):c.3874-8T>A rs397508625
NM_000492.4(CFTR):c.3887T>C (p.Phe1296Ser)
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala) rs193922522
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.389T>C (p.Leu130Pro) rs1798853976
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3904A>G (p.Lys1302Glu)
NM_000492.4(CFTR):c.3908A>C (p.Asn1303Thr) rs397508636
NM_000492.4(CFTR):c.3910T>G (p.Leu1304Val)
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.4(CFTR):c.3917C>A (p.Pro1306His)
NM_000492.4(CFTR):c.391T>C (p.Phe131Leu)
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3953T>G (p.Val1318Gly)
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) rs397508649
NM_000492.4(CFTR):c.3958G>A (p.Asp1320Asn)
NM_000492.4(CFTR):c.3958G>C (p.Asp1320His)
NM_000492.4(CFTR):c.3963+5G>C
NM_000492.4(CFTR):c.3963G>A (p.Glu1321=)
NM_000492.4(CFTR):c.3964-10C>T
NM_000492.4(CFTR):c.3964-16T>G
NM_000492.4(CFTR):c.3964-18del
NM_000492.4(CFTR):c.3964-7A>G
NM_000492.4(CFTR):c.3964G>A (p.Val1322Ile)
NM_000492.4(CFTR):c.3964G>T (p.Val1322Phe)
NM_000492.4(CFTR):c.3965T>A (p.Val1322Asp)
NM_000492.4(CFTR):c.3975A>T (p.Arg1325Ser) rs1793339514
NM_000492.4(CFTR):c.3980T>C (p.Val1327Ala)
NM_000492.4(CFTR):c.3980T>G (p.Val1327Gly)
NM_000492.4(CFTR):c.3984A>G (p.Ile1328Met)
NM_000492.4(CFTR):c.3989A>G (p.Gln1330Arg)
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile) rs1369611499
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007A>C (p.Asp1336Ala)
NM_000492.4(CFTR):c.4009T>A (p.Phe1337Ile)
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.4(CFTR):c.4018G>C (p.Val1340Leu) rs1554397492
NM_000492.4(CFTR):c.4019T>A (p.Val1340Glu)
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys) rs1584785049
NM_000492.4(CFTR):c.4024G>A (p.Gly1342Arg)
NM_000492.4(CFTR):c.4025G>T (p.Gly1342Val)
NM_000492.4(CFTR):c.4028G>A (p.Gly1343Asp) rs773458471
NM_000492.4(CFTR):c.4028G>C (p.Gly1343Ala)
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly) rs1793341222
NM_000492.4(CFTR):c.4034T>C (p.Val1345Ala)
NM_000492.4(CFTR):c.4037T>C (p.Leu1346Pro)
NM_000492.4(CFTR):c.4040G>A (p.Ser1347Asn)
NM_000492.4(CFTR):c.4042C>A (p.His1348Asn)
NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.4(CFTR):c.4053_4054delinsAG (p.Gln1352Glu) rs2116221100
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4061T>C (p.Met1354Thr) rs755993775
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg) rs755993775
NM_000492.4(CFTR):c.4063T>G (p.Cys1355Gly)
NM_000492.4(CFTR):c.4067T>C (p.Leu1356Ser)
NM_000492.4(CFTR):c.4076C>A (p.Ser1359Tyr)
NM_000492.4(CFTR):c.4076C>G (p.Ser1359Cys)
NM_000492.4(CFTR):c.4078G>A (p.Val1360Ile)
NM_000492.4(CFTR):c.407T>C (p.Leu136Pro) rs1798854681
NM_000492.4(CFTR):c.407T>G (p.Leu136Arg) rs1798854681
NM_000492.4(CFTR):c.4081C>G (p.Leu1361Val) rs772157232
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.4(CFTR):c.4088A>G (p.Lys1363Arg)
NM_000492.4(CFTR):c.4093A>G (p.Lys1365Glu)
NM_000492.4(CFTR):c.4096A>G (p.Ile1366Val)
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.40A>C (p.Lys14Gln)
NM_000492.4(CFTR):c.4103T>C (p.Leu1368Pro)
NM_000492.4(CFTR):c.4108G>C (p.Asp1370His)
NM_000492.4(CFTR):c.4110T>A (p.Asp1370Glu)
NM_000492.4(CFTR):c.4111_4113dup (p.Glu1371_Pro1372insGlu)
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr) rs397508676
NM_000492.4(CFTR):c.4114C>T (p.Pro1372Ser)
NM_000492.4(CFTR):c.4118G>T (p.Ser1373Ile) rs587780313
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis) rs397508679
NM_000492.4(CFTR):c.4135G>C (p.Val1379Leu)
NM_000492.4(CFTR):c.4136+3G>A rs1584849002
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4136+6T>A rs969884170
NM_000492.4(CFTR):c.4137-23G>A
NM_000492.4(CFTR):c.4139C>T (p.Thr1380Ile)
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.4142A>C (p.Tyr1381Ser)
NM_000492.4(CFTR):c.4142A>T (p.Tyr1381Phe)
NM_000492.4(CFTR):c.4144C>A (p.Gln1382Lys)
NM_000492.4(CFTR):c.4147A>G (p.Ile1383Val)
NM_000492.4(CFTR):c.4147A>T (p.Ile1383Leu)
NM_000492.4(CFTR):c.4151T>C (p.Ile1384Thr) rs1584849296
NM_000492.4(CFTR):c.415C>T (p.His139Tyr)
NM_000492.4(CFTR):c.4162C>G (p.Leu1388Val) rs1554397584
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro) rs397508688
NM_000492.4(CFTR):c.4178C>G (p.Ala1393Gly) rs2116222697
NM_000492.4(CFTR):c.4183T>C (p.Cys1395Arg)
NM_000492.4(CFTR):c.4187C>T (p.Thr1396Ile)
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.4(CFTR):c.4195C>A (p.Leu1399Ile)
NM_000492.4(CFTR):c.4195C>G (p.Leu1399Val) rs1562929162
NM_000492.4(CFTR):c.419C>G (p.Pro140Arg)
NM_000492.4(CFTR):c.419C>T (p.Pro140Leu) rs397508694
NM_000492.4(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.4(CFTR):c.4205A>G (p.His1402Arg)
NM_000492.4(CFTR):c.4208G>A (p.Arg1403Lys)
NM_000492.4(CFTR):c.4209G>T (p.Arg1403Ser)
NM_000492.4(CFTR):c.4219A>G (p.Met1407Val)
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
NM_000492.4(CFTR):c.4223T>C (p.Leu1408Pro)
NM_000492.4(CFTR):c.4238T>G (p.Phe1413Cys)
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.4(CFTR):c.4242+6T>C rs1562929200
NM_000492.4(CFTR):c.4243-3T>C
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly) rs779591474
NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)
NM_000492.4(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp) rs1793384834
NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile) rs1461912555
NM_000492.4(CFTR):c.425T>G (p.Ile142Ser)
NM_000492.4(CFTR):c.4261G>C (p.Val1421Leu)
NM_000492.4(CFTR):c.4264C>G (p.Arg1422Gly)
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp) rs373172017
NM_000492.4(CFTR):c.4265G>C (p.Arg1422Pro)
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=) rs545385510
NM_000492.4(CFTR):c.4268A>G (p.Gln1423Arg)
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.427T>G (p.Phe143Val)
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del) rs747078069
NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys) rs761669740
NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)
NM_000492.4(CFTR):c.4299G>C (p.Glu1433Asp)
NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)
NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)
NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)
NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)
NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser) rs1336644939
NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)
NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)
NM_000492.4(CFTR):c.4331C>T (p.Ser1444Phe)
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly) rs985995406
NM_000492.4(CFTR):c.4339G>A (p.Val1447Met)
NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs)
NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly) rs4148725
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
NM_000492.4(CFTR):c.435TCA[1] (p.His147del)
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg) rs1793394598
NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met)
NM_000492.4(CFTR):c.4391T>C (p.Ile1464Thr)
NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
NM_000492.4(CFTR):c.4412C>T (p.Thr1471Ile)
NM_000492.4(CFTR):c.4415A>T (p.Glu1472Val)
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys) rs397508716
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu) rs369464175
NM_000492.4(CFTR):c.4424T>C (p.Val1475Ala)
NM_000492.4(CFTR):c.4430A>T (p.Asp1477Val)
NM_000492.4(CFTR):c.4433C>A (p.Thr1478Lys)
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro) rs758818611
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.443T>G (p.Ile148Ser)
NM_000492.4(CFTR):c.449T>A (p.Met150Lys) rs1562889397
NM_000492.4(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.4(CFTR):c.44T>A (p.Leu15His)
NM_000492.4(CFTR):c.450G>A (p.Met150Ile)
NM_000492.4(CFTR):c.456G>A (p.Met152Ile) rs1403470018
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.466A>G (p.Met156Val)
NM_000492.4(CFTR):c.472A>G (p.Ser158Gly)
NM_000492.4(CFTR):c.472A>T (p.Ser158Cys)
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.478A>G (p.Ile160Val)
NM_000492.4(CFTR):c.479T>C (p.Ile160Thr)
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr) rs1562889435
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.4(CFTR):c.491C>T (p.Thr164Ile)
NM_000492.4(CFTR):c.498G>C (p.Lys166Asn) rs2116674891
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu) rs869249241
NM_000492.4(CFTR):c.505A>G (p.Ser169Gly) rs1554380309
NM_000492.4(CFTR):c.506G>A (p.Ser169Asn)
NM_000492.4(CFTR):c.508C>A (p.Arg170Ser) rs578029902
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.518A>T (p.Asp173Val)
NM_000492.4(CFTR):c.521A>G (p.Lys174Arg)
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.527G>T (p.Ser176Ile)
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
NM_000492.4(CFTR):c.53+3G>C rs1797978937
NM_000492.4(CFTR):c.53+9G>T rs745414764
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.539T>C (p.Leu180Pro)
NM_000492.4(CFTR):c.53G>T (p.Ser18Ile)
NM_000492.4(CFTR):c.54-13C>G rs397508749
NM_000492.4(CFTR):c.54-9347T>A
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.548T>A (p.Leu183His)
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg) rs1798913255
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr) rs1798913314
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
NM_000492.4(CFTR):c.562C>A (p.Leu188Met)
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.574G>C (p.Asp192His)
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.579+4T>C
NM_000492.4(CFTR):c.579+8C>A
NM_000492.4(CFTR):c.580-3C>T rs2116676312
NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)
NM_000492.4(CFTR):c.586G>A (p.Ala196Thr)
NM_000492.4(CFTR):c.586G>C (p.Ala196Pro)
NM_000492.4(CFTR):c.587C>G (p.Ala196Gly)
NM_000492.4(CFTR):c.587C>T (p.Ala196Val) rs1204822296
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.4(CFTR):c.592G>T (p.Ala198Ser)
NM_000492.4(CFTR):c.593C>T (p.Ala198Val) rs73215910
NM_000492.4(CFTR):c.598T>G (p.Phe200Val) rs397508766
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro) rs1797976959
NM_000492.4(CFTR):c.600C>A (p.Phe200Leu)
NM_000492.4(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser) rs748026786
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.4(CFTR):c.619C>A (p.Gln207Lys)
NM_000492.4(CFTR):c.622G>A (p.Val208Met)
NM_000492.4(CFTR):c.626C>T (p.Ala209Val)
NM_000492.4(CFTR):c.628C>A (p.Leu210Ile)
NM_000492.4(CFTR):c.635T>C (p.Met212Thr)
NM_000492.4(CFTR):c.640C>G (p.Leu214Val) rs188457893
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg) rs1562890551
NM_000492.4(CFTR):c.647G>C (p.Trp216Ser)
NM_000492.4(CFTR):c.661G>C (p.Ala221Pro)
NM_000492.4(CFTR):c.662C>A (p.Ala221Glu)
NM_000492.4(CFTR):c.662C>G (p.Ala221Gly)
NM_000492.4(CFTR):c.667G>T (p.Ala223Ser)
NM_000492.4(CFTR):c.670T>C (p.Phe224Leu)
NM_000492.4(CFTR):c.670T>G (p.Phe224Val)
NM_000492.4(CFTR):c.671T>C (p.Phe224Ser)
NM_000492.4(CFTR):c.676G>A (p.Gly226Arg)
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.4(CFTR):c.67A>G (p.Ile23Val) rs1798377413
NM_000492.4(CFTR):c.682G>A (p.Gly228Ser)
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys) rs1435574279
NM_000492.4(CFTR):c.683G>A (p.Gly228Asp)
NM_000492.4(CFTR):c.68T>C (p.Ile23Thr)
NM_000492.4(CFTR):c.692T>G (p.Ile231Arg)
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe) rs775713428
NM_000492.4(CFTR):c.700G>T (p.Ala234Ser)
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.4(CFTR):c.703C>G (p.Leu235Val)
NM_000492.4(CFTR):c.704T>A (p.Leu235His)
NM_000492.4(CFTR):c.707T>A (p.Phe236Tyr)
NM_000492.4(CFTR):c.710A>C (p.Gln237Pro)
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.712G>T (p.Ala238Ser)
NM_000492.4(CFTR):c.716G>A (p.Gly239Glu)
NM_000492.4(CFTR):c.718C>G (p.Leu240Val)
NM_000492.4(CFTR):c.721G>T (p.Gly241Trp)
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
NM_000492.4(CFTR):c.727A>G (p.Met243Val)
NM_000492.4(CFTR):c.728T>C (p.Met243Thr)
NM_000492.4(CFTR):c.729G>A (p.Met243Ile)
NM_000492.4(CFTR):c.731T>C (p.Met244Thr)
NM_000492.4(CFTR):c.736A>C (p.Lys246Gln)
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743+4G>T rs193922530
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.745G>T (p.Asp249Tyr)
NM_000492.4(CFTR):c.754G>A (p.Ala252Thr) rs748582435
NM_000492.4(CFTR):c.754G>C (p.Ala252Pro)
NM_000492.4(CFTR):c.754G>T (p.Ala252Ser)
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.765C>G (p.Ile255Met)
NM_000492.4(CFTR):c.766A>G (p.Ser256Gly) rs773790621
NM_000492.4(CFTR):c.770A>G (p.Glu257Gly)
NM_000492.4(CFTR):c.773G>A (p.Arg258Lys) rs377514639
NM_000492.4(CFTR):c.775C>T (p.Leu259Phe) rs762640483
NM_000492.4(CFTR):c.778G>A (p.Val260Met) rs1390016549
NM_000492.4(CFTR):c.782T>C (p.Ile261Thr)
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
NM_000492.4(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.4(CFTR):c.818A>C (p.Lys273Thr)
NM_000492.4(CFTR):c.819_824del (p.Lys273_Tyr275delinsAsn) rs1554380796
NM_000492.4(CFTR):c.830G>C (p.Trp277Ser)
NM_000492.4(CFTR):c.838G>A (p.Ala280Thr)
NM_000492.4(CFTR):c.839C>G (p.Ala280Gly)
NM_000492.4(CFTR):c.851T>C (p.Met284Thr) rs2116678778
NM_000492.4(CFTR):c.854T>C (p.Ile285Thr)
NM_000492.4(CFTR):c.85A>G (p.Arg29Gly)
NM_000492.4(CFTR):c.860A>G (p.Asn287Ser)
NM_000492.4(CFTR):c.865A>G (p.Arg289Gly)
NM_000492.4(CFTR):c.868C>G (p.Gln290Glu)
NM_000492.4(CFTR):c.869+5G>C
NM_000492.4(CFTR):c.869A>T (p.Gln290Leu)
NM_000492.4(CFTR):c.870-1110T>C
NM_000492.4(CFTR):c.870-5dup rs759762840
NM_000492.4(CFTR):c.870-682_870-350del
NM_000492.4(CFTR):c.875A>G (p.Glu292Gly) rs1799023050
NM_000492.4(CFTR):c.878T>G (p.Leu293Arg)
NM_000492.4(CFTR):c.895G>A (p.Ala299Thr) rs1180803268
NM_000492.4(CFTR):c.896C>T (p.Ala299Val)
NM_000492.4(CFTR):c.899C>G (p.Ala300Gly)
NM_000492.4(CFTR):c.89A>C (p.Gln30Pro)
NM_000492.4(CFTR):c.901T>C (p.Tyr301His)
NM_000492.4(CFTR):c.905T>A (p.Val302Glu)
NM_000492.4(CFTR):c.905T>C (p.Val302Ala)
NM_000492.4(CFTR):c.911A>C (p.Tyr304Ser)
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.4(CFTR):c.915C>G (p.Phe305Leu)
NM_000492.4(CFTR):c.920G>T (p.Ser307Ile)
NM_000492.4(CFTR):c.926C>A (p.Ala309Asp) rs397508818
NM_000492.4(CFTR):c.926C>T (p.Ala309Val) rs397508818
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.932T>C (p.Phe311Ser)
NM_000492.4(CFTR):c.932T>G (p.Phe311Cys) rs1584789230
NM_000492.4(CFTR):c.940G>C (p.Gly314Arg) rs397508819
NM_000492.4(CFTR):c.940G>T (p.Gly314Trp) rs397508819
NM_000492.4(CFTR):c.941G>C (p.Gly314Ala) rs75763344
NM_000492.4(CFTR):c.944T>G (p.Phe315Cys)
NM_000492.4(CFTR):c.947T>C (p.Phe316Ser)
NM_000492.4(CFTR):c.949G>A (p.Val317Met)
NM_000492.4(CFTR):c.950T>G (p.Val317Gly)
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.4(CFTR):c.962C>G (p.Ser321Cys)
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000492.4(CFTR):c.976G>T (p.Ala326Ser)
NM_000492.4(CFTR):c.977C>G (p.Ala326Gly)
NM_000492.4(CFTR):c.977C>T (p.Ala326Val) rs1584789296
NM_000492.4(CFTR):c.979C>G (p.Leu327Val)
NM_000492.4(CFTR):c.991A>T (p.Ile331Phe)
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup
NM_000506.4(F2):c.*100C>A rs112016113
NM_000506.5(F2):c.1093G>T (p.Val365Leu)
NM_000506.5(F2):c.1131-5C>T rs1255363601
NM_000506.5(F2):c.124C>T (p.Arg42Trp)
NM_000506.5(F2):c.1277T>C (p.Ile426Thr)
NM_000506.5(F2):c.1351C>A (p.Pro451Thr)
NM_000506.5(F2):c.1411C>A (p.Pro471Thr)
NM_000506.5(F2):c.1472+9C>T rs886048336
NM_000506.5(F2):c.1567C>T (p.Leu523=) rs886048337
NM_000506.5(F2):c.1598G>A (p.Arg533Gln) rs1361766713
NM_000506.5(F2):c.1621C>A (p.Arg541=) rs886048338
NM_000506.5(F2):c.45G>A (p.Leu15=) rs886048333
NM_000506.5(F2):c.517G>C (p.Asp173His)
NM_000506.5(F2):c.533G>T (p.Arg178Met) rs2134528259
NM_000506.5(F2):c.558T>C (p.Cys186=)
NM_000506.5(F2):c.607A>G (p.Ser203Gly) rs2064868698
NM_000506.5(F2):c.650G>A (p.Arg217Gln)
NM_000506.5(F2):c.934G>A (p.Glu312Lys)
NM_000506.5(F2):c.954T>G (p.Ser318Arg) rs2134532792
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G rs1345009528
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys) rs1564864998
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser) rs1953567712
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg) rs376773562
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=) rs1287370462
NM_000525.4(KCNJ11):c.558T>C (p.His186=) rs1953583830
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu) rs1554933800
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu) rs71467507
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val) rs71467507
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro) rs1299899778
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del) rs1554933847
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9]) rs1554933850
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro) rs377609894
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu) rs377609894
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val) rs2134021009
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del) rs1382534368
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
NM_000543.5(SMPD1):c.1486+6_1486+9del rs1389809925
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) rs2134023371
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=) rs886048447
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
NM_000543.5(SMPD1):c.1660G>C (p.Ala554Pro) rs758811926
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu) rs149939736
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg) rs1554935731
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe) rs138531908
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn) rs2134024509
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu) rs140269316
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp) rs1847877445
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val) rs913533196
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp) rs2134006790
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr) rs1847903513
NM_000543.5(SMPD1):c.394G>A (p.Val132Met) rs189859589
NM_000543.5(SMPD1):c.439G>A (p.Val147Met) rs936971458
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe) rs1215635747
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe) rs1690892137
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr) rs2134010893
NM_000543.5(SMPD1):c.66C>T (p.Asp22=) rs886048444
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.682T>G (p.Cys228Gly) rs1564923612
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.734A>C (p.Tyr245Ser) rs1847928024
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu) rs1172255199
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
NM_000543.5(SMPD1):c.858C>A (p.Val286=) rs1194457629
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.879C>T (p.Asp293=) rs886048445
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del) rs1554934457
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup) rs1554934463
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) rs398123480
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000553.5(WRN):c.-284dup rs886062882
NM_000553.5(WRN):c.-289delG rs886062880
NM_000553.5(WRN):c.-289dup rs886062880
NM_000553.5(WRN):c.-295_-294insG rs886062879
NM_000553.5(WRN):c.-297dup rs886062878
NM_000553.5(WRN):c.-636G>C rs886062875
NM_000553.5(WRN):c.-677G>T rs886062874
NM_000553.5(WRN):c.-683G>T rs886062873
NM_000553.6(WRN):c.*553dup rs777731812
NM_000553.6(WRN):c.*626A>G rs886062897
NM_000553.6(WRN):c.*660T>C rs1804186813
NM_000553.6(WRN):c.-234T>A rs886062883
NM_000553.6(WRN):c.1000A>G (p.Arg334Gly)
NM_000553.6(WRN):c.1003G>A (p.Glu335Lys)
NM_000553.6(WRN):c.1009G>A (p.Glu337Lys)
NM_000553.6(WRN):c.1020T>G (p.Ile340Met) rs775231592
NM_000553.6(WRN):c.1022A>G (p.His341Arg)
NM_000553.6(WRN):c.1025T>A (p.Val342Asp)
NM_000553.6(WRN):c.1025T>C (p.Val342Ala)
NM_000553.6(WRN):c.1031A>G (p.Asp344Gly)
NM_000553.6(WRN):c.1032T>G (p.Asp344Glu)
NM_000553.6(WRN):c.1033G>A (p.Glu345Lys)
NM_000553.6(WRN):c.1036A>G (p.Thr346Ala) rs1439559895
NM_000553.6(WRN):c.1037C>T (p.Thr346Ile) rs1554520892
NM_000553.6(WRN):c.1039T>C (p.Trp347Arg) rs2130119241
NM_000553.6(WRN):c.1042G>T (p.Asp348Tyr)
NM_000553.6(WRN):c.1046C>T (p.Pro349Leu) rs765667470
NM_000553.6(WRN):c.1048A>G (p.Thr350Ala) rs1209215928
NM_000553.6(WRN):c.1049C>T (p.Thr350Ile)
NM_000553.6(WRN):c.1051C>G (p.Leu351Val) rs1813289767
NM_000553.6(WRN):c.1052T>C (p.Leu351Pro) rs2130119398
NM_000553.6(WRN):c.1054G>T (p.Asp352Tyr) rs1813289867
NM_000553.6(WRN):c.1064C>T (p.Ala355Val)
NM_000553.6(WRN):c.1066A>G (p.Lys356Glu) rs2130119453
NM_000553.6(WRN):c.1069C>A (p.His357Asn) rs1813290197
NM_000553.6(WRN):c.106_117del (p.Arg36_Val39del) rs1343635332
NM_000553.6(WRN):c.1073A>T (p.Asp358Val) rs780287000
NM_000553.6(WRN):c.1074T>G (p.Asp358Glu) rs1585427898
NM_000553.6(WRN):c.1079A>G (p.Glu360Gly) rs2130119584
NM_000553.6(WRN):c.1081G>T (p.Asp361Tyr) rs751850825
NM_000553.6(WRN):c.1083T>A (p.Asp361Glu) rs1198573341
NM_000553.6(WRN):c.1087C>G (p.Leu363Val)
NM_000553.6(WRN):c.1087C>T (p.Leu363Phe) rs1585427933
NM_000553.6(WRN):c.1094A>G (p.Asn365Ser)
NM_000553.6(WRN):c.1096A>G (p.Lys366Glu) rs2130119772
NM_000553.6(WRN):c.1099G>A (p.Val367Met)
NM_000553.6(WRN):c.1105C>G (p.Arg369Gly) rs17847577
NM_000553.6(WRN):c.1106G>T (p.Arg369Leu) rs1351358663
NM_000553.6(WRN):c.110A>G (p.Lys37Arg) rs1812387242
NM_000553.6(WRN):c.1112A>C (p.Glu371Ala) rs1585428033
NM_000553.6(WRN):c.1112A>G (p.Glu371Gly) rs1585428033
NM_000553.6(WRN):c.1114G>T (p.Asp372Tyr)
NM_000553.6(WRN):c.1115A>T (p.Asp372Val)
NM_000553.6(WRN):c.1117G>A (p.Gly373Arg) rs1223703867
NM_000553.6(WRN):c.1118G>T (p.Gly373Val) rs376913063
NM_000553.6(WRN):c.1121T>C (p.Phe374Ser)
NM_000553.6(WRN):c.1126G>A (p.Asp376Asn)
NM_000553.6(WRN):c.1128T>A (p.Asp376Glu) rs2130120221
NM_000553.6(WRN):c.1132G>A (p.Val378Ile) rs1183420724
NM_000553.6(WRN):c.1133T>C (p.Val378Ala) rs1563338901
NM_000553.6(WRN):c.1134AGA[3] (p.Glu379_Asp380insGlu)
NM_000553.6(WRN):c.1136A>G (p.Glu379Gly)
NM_000553.6(WRN):c.1137A>C (p.Glu379Asp)
NM_000553.6(WRN):c.1140C>G (p.Asp380Glu) rs1417624681
NM_000553.6(WRN):c.1140CAA[1] (p.Asn381del) rs1813294934
NM_000553.6(WRN):c.1142A>G (p.Asn381Ser) rs1813295114
NM_000553.6(WRN):c.1143C>A (p.Asn381Lys) rs1585428126
NM_000553.6(WRN):c.1149G>C (p.Leu383Phe)
NM_000553.6(WRN):c.1150A>G (p.Lys384Glu) rs1563338919
NM_000553.6(WRN):c.1151A>T (p.Lys384Ile)
NM_000553.6(WRN):c.1156A>C (p.Asn386His) rs2130120492
NM_000553.6(WRN):c.1156A>G (p.Asn386Asp)
NM_000553.6(WRN):c.1157A>G (p.Asn386Ser) rs2130120537
NM_000553.6(WRN):c.1165A>G (p.Arg389Gly)
NM_000553.6(WRN):c.1167A>T (p.Arg389Ser)
NM_000553.6(WRN):c.1171T>C (p.Cys391Arg)
NM_000553.6(WRN):c.1171T>G (p.Cys391Gly) rs1060500062
NM_000553.6(WRN):c.1178T>A (p.Met393Lys)
NM_000553.6(WRN):c.1178T>G (p.Met393Arg)
NM_000553.6(WRN):c.1178_1192dup (p.Ile397_Thr398insMetSerLeuAspIle)
NM_000553.6(WRN):c.1181C>G (p.Ser394Trp) rs200487813
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) rs200487813
NM_000553.6(WRN):c.1186G>A (p.Asp396Asn) rs1206180521
NM_000553.6(WRN):c.1186G>C (p.Asp396His)
NM_000553.6(WRN):c.1190T>C (p.Ile397Thr) rs2130120985
NM_000553.6(WRN):c.1193C>G (p.Thr398Arg)
NM_000553.6(WRN):c.1195G>A (p.Glu399Lys)
NM_000553.6(WRN):c.1198C>A (p.His400Asn) rs1813298603
NM_000553.6(WRN):c.1198C>T (p.His400Tyr) rs1813298603
NM_000553.6(WRN):c.1203A>C (p.Glu401Asp) rs1813298966
NM_000553.6(WRN):c.1204C>T (p.Leu402Phe) rs779022285
NM_000553.6(WRN):c.1205T>C (p.Leu402Pro) rs2130121190
NM_000553.6(WRN):c.1217A>C (p.Glu406Ala) rs1060500068
NM_000553.6(WRN):c.1219C>A (p.Gln407Lys)
NM_000553.6(WRN):c.1226C>T (p.Ser409Phe) rs1813300007
NM_000553.6(WRN):c.1229A>G (p.Gln410Arg) rs1450020287
NM_000553.6(WRN):c.1237T>C (p.Tyr413His) rs1813300717
NM_000553.6(WRN):c.1240C>A (p.Leu414Ile)
NM_000553.6(WRN):c.1241T>G (p.Leu414Arg) rs1813301048
NM_000553.6(WRN):c.1249A>G (p.Ile417Val)
NM_000553.6(WRN):c.1249A>T (p.Ile417Phe) rs1317121391
NM_000553.6(WRN):c.1250T>C (p.Ile417Thr) rs1295448612
NM_000553.6(WRN):c.1253C>T (p.Ala418Val)
NM_000553.6(WRN):c.1256A>G (p.Tyr419Cys) rs776098344
NM_000553.6(WRN):c.1261T>C (p.Ser421Pro) rs2130121699
NM_000553.6(WRN):c.1264A>G (p.Thr422Ala)
NM_000553.6(WRN):c.1264A>T (p.Thr422Ser)
NM_000553.6(WRN):c.1264_1266del (p.Thr422del)
NM_000553.6(WRN):c.1269+4C>G rs763511810
NM_000553.6(WRN):c.1270C>T (p.His424Tyr) rs2130132983
NM_000553.6(WRN):c.1271A>G (p.His424Arg) rs1060500066
NM_000553.6(WRN):c.1275A>C (p.Leu425Phe) rs771486771
NM_000553.6(WRN):c.1276T>C (p.Ser426Pro) rs1060500074
NM_000553.6(WRN):c.1277C>T (p.Ser426Phe) rs1389670955
NM_000553.6(WRN):c.1282A>C (p.Asn428His)
NM_000553.6(WRN):c.1287T>G (p.Asp429Glu) rs2130133161
NM_000553.6(WRN):c.1289A>T (p.Asn430Ile) rs1813411963
NM_000553.6(WRN):c.128A>G (p.Asp43Gly) rs1394481064
NM_000553.6(WRN):c.1295A>G (p.Asn432Ser) rs2130133251
NM_000553.6(WRN):c.1297G>A (p.Asp433Asn) rs1348238795
NM_000553.6(WRN):c.1298A>G (p.Asp433Gly) rs775685980
NM_000553.6(WRN):c.1301C>G (p.Thr434Arg) rs761035278
NM_000553.6(WRN):c.1301C>T (p.Thr434Met) rs761035278
NM_000553.6(WRN):c.1309G>A (p.Val437Ile) rs562250010
NM_000553.6(WRN):c.1310_1315del (p.Val437_Ile438del) rs1813413382
NM_000553.6(WRN):c.1312A>G (p.Ile438Val)
NM_000553.6(WRN):c.1313T>C (p.Ile438Thr)
NM_000553.6(WRN):c.1316A>G (p.Glu439Gly)
NM_000553.6(WRN):c.1319G>A (p.Ser440Asn)
NM_000553.6(WRN):c.1320TGA[1] (p.Asp441del)
NM_000553.6(WRN):c.1324G>C (p.Glu442Gln) rs147669987
NM_000553.6(WRN):c.1327G>A (p.Asp443Asn) rs1287053714
NM_000553.6(WRN):c.1333G>A (p.Glu445Lys) rs2130133633
NM_000553.6(WRN):c.1337T>C (p.Met446Thr) rs2130133670
NM_000553.6(WRN):c.1338G>A (p.Met446Ile)
NM_000553.6(WRN):c.133C>G (p.Pro45Ala)
NM_000553.6(WRN):c.1341G>T (p.Glu447Asp)
NM_000553.6(WRN):c.1342A>C (p.Met448Leu) rs2130133720
NM_000553.6(WRN):c.1344G>A (p.Met448Ile) rs1563340544
NM_000553.6(WRN):c.1346T>C (p.Leu449Pro)
NM_000553.6(WRN):c.1348A>G (p.Lys450Glu)
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1350+6T>A rs1585431454
NM_000553.6(WRN):c.1351-5T>A rs1813480093
NM_000553.6(WRN):c.1351-8_1351-5del rs34499088
NM_000553.6(WRN):c.1352A>G (p.His451Arg) rs2130140205
NM_000553.6(WRN):c.1354T>G (p.Leu452Val)
NM_000553.6(WRN):c.135CTT[1] (p.Phe46del) rs768226589
NM_000553.6(WRN):c.1360C>A (p.Pro454Thr)
NM_000553.6(WRN):c.1360C>G (p.Pro454Ala)
NM_000553.6(WRN):c.1360C>T (p.Pro454Ser)
NM_000553.6(WRN):c.1366G>A (p.Asp456Asn) rs756908250
NM_000553.6(WRN):c.1367A>C (p.Asp456Ala) rs368120966
NM_000553.6(WRN):c.1379A>G (p.Asp460Gly) rs1315461183
NM_000553.6(WRN):c.1379A>T (p.Asp460Val) rs1315461183
NM_000553.6(WRN):c.1382_1383delinsTT (p.Thr461Ile) rs1563341342
NM_000553.6(WRN):c.1384T>A (p.Ser462Thr)
NM_000553.6(WRN):c.1384T>C (p.Ser462Pro) rs1813482200
NM_000553.6(WRN):c.1384T>G (p.Ser462Ala) rs1813482200
NM_000553.6(WRN):c.138C>G (p.Phe46Leu) rs1060500072
NM_000553.6(WRN):c.139T>G (p.Leu47Val) rs1812389244
NM_000553.6(WRN):c.1400G>A (p.Ser467Asn) rs1208825397
NM_000553.6(WRN):c.1408G>A (p.Asp470Asn)
NM_000553.6(WRN):c.1408G>T (p.Asp470Tyr) rs759321856
NM_000553.6(WRN):c.1411T>A (p.Leu471Ile) rs878854132
NM_000553.6(WRN):c.1413A>C (p.Leu471Phe) rs587778745
NM_000553.6(WRN):c.1414G>C (p.Glu472Gln) rs2130140682
NM_000553.6(WRN):c.1418T>A (p.Met473Lys) rs760571785
NM_000553.6(WRN):c.1418T>C (p.Met473Thr)
NM_000553.6(WRN):c.1419G>A (p.Met473Ile)
NM_000553.6(WRN):c.1421A>G (p.Glu474Gly)
NM_000553.6(WRN):c.1422G>T (p.Glu474Asp) rs2130140730
NM_000553.6(WRN):c.1431+3A>G rs2130140837
NM_000553.6(WRN):c.1431+5G>T
NM_000553.6(WRN):c.1431G>A (p.Lys477=) rs376705983
NM_000553.6(WRN):c.1431G>C (p.Lys477Asn) rs376705983
NM_000553.6(WRN):c.1431G>T (p.Lys477Asn)
NM_000553.6(WRN):c.1433C>A (p.Ser478Tyr) rs1585436633
NM_000553.6(WRN):c.1439A>G (p.Glu480Gly)
NM_000553.6(WRN):c.1441A>G (p.Asn481Asp)
NM_000553.6(WRN):c.1443C>A (p.Asn481Lys) rs760660037
NM_000553.6(WRN):c.1454G>A (p.Gly485Asp) rs994487409
NM_000553.6(WRN):c.145T>C (p.Phe49Leu) rs587778749
NM_000553.6(WRN):c.1463A>G (p.Glu488Gly) rs1813591234
NM_000553.6(WRN):c.1465C>G (p.Pro489Ala) rs1813591344
NM_000553.6(WRN):c.1465C>T (p.Pro489Ser) rs1813591344
NM_000553.6(WRN):c.1466C>A (p.Pro489Gln)
NM_000553.6(WRN):c.1468A>C (p.Thr490Pro) rs758101797
NM_000553.6(WRN):c.1469C>T (p.Thr490Ile) rs1563342978
NM_000553.6(WRN):c.1471C>A (p.His491Asn) rs2130155891
NM_000553.6(WRN):c.1474T>G (p.Ser492Ala) rs1813591846
NM_000553.6(WRN):c.1478A>G (p.Lys493Arg) rs1563342990
NM_000553.6(WRN):c.1478A>T (p.Lys493Ile) rs1563342990
NM_000553.6(WRN):c.1480T>G (p.Cys494Gly) rs1813592289
NM_000553.6(WRN):c.1481G>C (p.Cys494Ser)
NM_000553.6(WRN):c.1487A>G (p.Lys496Arg) rs2130156186
NM_000553.6(WRN):c.1489A>G (p.Met497Val)
NM_000553.6(WRN):c.1491G>C (p.Met497Ile) rs1813592863
NM_000553.6(WRN):c.1495A>G (p.Arg499Gly) rs1554522529
NM_000553.6(WRN):c.1501C>A (p.Leu501Met)
NM_000553.6(WRN):c.1513A>G (p.Thr505Ala)
NM_000553.6(WRN):c.1516A>G (p.Lys506Glu) rs1813594156
NM_000553.6(WRN):c.1516_1518del (p.Lys506del) rs1813594271
NM_000553.6(WRN):c.1518AGA[3] (p.Glu509_Glu510del) rs781777438
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del) rs781777438
NM_000553.6(WRN):c.1518AGA[6] (p.Glu510dup) rs781777438
NM_000553.6(WRN):c.1523A>C (p.Glu508Ala) rs1813594768
NM_000553.6(WRN):c.1525G>A (p.Glu509Lys)
NM_000553.6(WRN):c.1526A>G (p.Glu509Gly) rs913787461
NM_000553.6(WRN):c.1531G>T (p.Asp511Tyr) rs368413625
NM_000553.6(WRN):c.1532A>G (p.Asp511Gly)
NM_000553.6(WRN):c.1533T>A (p.Asp511Glu)
NM_000553.6(WRN):c.1533TGA[1] (p.Asp512del) rs746348167
NM_000553.6(WRN):c.1533TGA[3] (p.Asp512dup) rs746348167
NM_000553.6(WRN):c.1535A>T (p.Asp512Val) rs763266496
NM_000553.6(WRN):c.1536T>A (p.Asp512Glu)
NM_000553.6(WRN):c.1537G>A (p.Glu513Lys)
NM_000553.6(WRN):c.1538A>G (p.Glu513Gly)
NM_000553.6(WRN):c.1538A>T (p.Glu513Val) rs2130157028
NM_000553.6(WRN):c.1539_1571dup (p.Glu513_Asp523dup) rs1305909910
NM_000553.6(WRN):c.1540A>G (p.Asn514Asp) rs1813596844
NM_000553.6(WRN):c.1542T>G (p.Asn514Lys) rs1267432535
NM_000553.6(WRN):c.1547C>G (p.Ala516Gly) rs1585436958
NM_000553.6(WRN):c.1549A>G (p.Asn517Asp) rs2130157212
NM_000553.6(WRN):c.1551T>A (p.Asn517Lys) rs1813597925
NM_000553.6(WRN):c.1558G>A (p.Glu520Lys) rs1204739059
NM_000553.6(WRN):c.1559A>G (p.Glu520Gly)
NM_000553.6(WRN):c.155C>T (p.Ser52Phe) rs1812390262
NM_000553.6(WRN):c.1563A>T (p.Glu521Asp) rs747825738
NM_000553.6(WRN):c.1564GAT[2] (p.Asp524del) rs2130157485
NM_000553.6(WRN):c.1566T>A (p.Asp522Glu) rs751988233
NM_000553.6(WRN):c.1570G>A (p.Asp524Asn)
NM_000553.6(WRN):c.1571A>G (p.Asp524Gly) rs1386215142
NM_000553.6(WRN):c.1572T>G (p.Asp524Glu)
NM_000553.6(WRN):c.1573A>C (p.Lys525Gln)
NM_000553.6(WRN):c.1573A>G (p.Lys525Glu) rs1813600027
NM_000553.6(WRN):c.1576+3A>G rs2130157737
NM_000553.6(WRN):c.1576G>A (p.Asp526Asn)
NM_000553.6(WRN):c.1576G>T (p.Asp526Tyr) rs1813600127
NM_000553.6(WRN):c.1579T>G (p.Phe527Val)
NM_000553.6(WRN):c.157A>G (p.Ile53Val) rs772963859
NM_000553.6(WRN):c.1582T>A (p.Leu528Met) rs752994352
NM_000553.6(WRN):c.1588C>A (p.Pro530Thr) rs1554522734
NM_000553.6(WRN):c.1588C>T (p.Pro530Ser)
NM_000553.6(WRN):c.1589C>T (p.Pro530Leu) rs2130163552
NM_000553.6(WRN):c.1592C>A (p.Ala531Glu) rs1190792876
NM_000553.6(WRN):c.1595C>T (p.Pro532Leu)
NM_000553.6(WRN):c.1605G>C (p.Glu535Asp) rs1585438150
NM_000553.6(WRN):c.1606C>G (p.Gln536Glu) rs1060500075
NM_000553.6(WRN):c.160G>T (p.Val54Leu)
NM_000553.6(WRN):c.1612A>G (p.Thr538Ala) rs2130163847
NM_000553.6(WRN):c.1616G>A (p.Cys539Tyr)
NM_000553.6(WRN):c.1619T>G (p.Leu540Arg) rs1585438192
NM_000553.6(WRN):c.1621A>C (p.Lys541Gln) rs1554522745
NM_000553.6(WRN):c.1621A>G (p.Lys541Glu) rs1554522745
NM_000553.6(WRN):c.1624A>G (p.Met542Val) rs1813640209
NM_000553.6(WRN):c.1625T>C (p.Met542Thr)
NM_000553.6(WRN):c.1628A>G (p.Tyr543Cys) rs151001436
NM_000553.6(WRN):c.1639T>C (p.Ser547Pro) rs1455599932
NM_000553.6(WRN):c.1640C>T (p.Ser547Phe)
NM_000553.6(WRN):c.1643G>A (p.Ser548Asn) rs1813641310
NM_000553.6(WRN):c.164A>G (p.Tyr55Cys)
NM_000553.6(WRN):c.1652+3G>T
NM_000553.6(WRN):c.1652+5G>A rs377547394
NM_000553.6(WRN):c.1652C>A (p.Pro551Gln) rs781107893
NM_000553.6(WRN):c.1653A>C (p.Pro551=)
NM_000553.6(WRN):c.1654G>C (p.Val552Leu) rs1250329020
NM_000553.6(WRN):c.1657C>A (p.Gln553Lys) rs2130170949
NM_000553.6(WRN):c.1658A>G (p.Gln553Arg) rs1304090486
NM_000553.6(WRN):c.1663A>C (p.Lys555Gln)
NM_000553.6(WRN):c.1664A>C (p.Lys555Thr) rs2130171044
NM_000553.6(WRN):c.1665A>C (p.Lys555Asn) rs1060500061
NM_000553.6(WRN):c.1666G>A (p.Val556Met)
NM_000553.6(WRN):c.1669A>C (p.Ile557Leu)
NM_000553.6(WRN):c.166A>G (p.Ser56Gly)
NM_000553.6(WRN):c.1676C>T (p.Ser559Leu)
NM_000553.6(WRN):c.167G>C (p.Ser56Thr) rs1812390980
NM_000553.6(WRN):c.1682T>C (p.Leu561Ser)
NM_000553.6(WRN):c.1687G>A (p.Glu563Lys) rs1813704336
NM_000553.6(WRN):c.1688A>C (p.Glu563Ala) rs1813704488
NM_000553.6(WRN):c.1688A>G (p.Glu563Gly) rs1813704488
NM_000553.6(WRN):c.1691G>C (p.Arg564Thr) rs1813704825
NM_000553.6(WRN):c.1693A>G (p.Arg565Gly)
NM_000553.6(WRN):c.1695A>C (p.Arg565Ser) rs1813705147
NM_000553.6(WRN):c.1698T>G (p.Asp566Glu) rs571962311
NM_000553.6(WRN):c.1699_1701del (p.Asn567del) rs2130171395
NM_000553.6(WRN):c.16T>A (p.Leu6Met) rs202148988
NM_000553.6(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.6(WRN):c.1701T>A (p.Asn567Lys) rs1813705742
NM_000553.6(WRN):c.1702G>A (p.Val568Ile)
NM_000553.6(WRN):c.1703T>C (p.Val568Ala) rs1813705866
NM_000553.6(WRN):c.1706C>T (p.Ala569Val)
NM_000553.6(WRN):c.1708G>A (p.Val570Ile)
NM_000553.6(WRN):c.1713G>A (p.Met571Ile) rs2130171575
NM_000553.6(WRN):c.1717A>C (p.Thr573Pro) rs150148567
NM_000553.6(WRN):c.1718C>G (p.Thr573Ser) rs2130171655
NM_000553.6(WRN):c.1721-18T>G
NM_000553.6(WRN):c.1721G>T (p.Gly574Val) rs1563344853
NM_000553.6(WRN):c.1725_1726inv (p.Gly576Arg)
NM_000553.6(WRN):c.1726G>C (p.Gly576Arg) rs1396973081
NM_000553.6(WRN):c.172G>T (p.Asp58Tyr) rs773803207
NM_000553.6(WRN):c.1731G>C (p.Lys577Asn)
NM_000553.6(WRN):c.173A>G (p.Asp58Gly)
NM_000553.6(WRN):c.1745A>G (p.Gln582Arg) rs1554523021
NM_000553.6(WRN):c.1747T>G (p.Tyr583Asp)
NM_000553.6(WRN):c.1756G>C (p.Val586Leu) rs746690931
NM_000553.6(WRN):c.1757T>C (p.Val586Ala) rs1813720911
NM_000553.6(WRN):c.1760A>C (p.Tyr587Ser) rs137977751
NM_000553.6(WRN):c.1760A>G (p.Tyr587Cys) rs137977751
NM_000553.6(WRN):c.1762G>A (p.Val588Ile) rs587778747
NM_000553.6(WRN):c.1762G>C (p.Val588Leu) rs587778747
NM_000553.6(WRN):c.1763T>C (p.Val588Ala) rs1585440811
NM_000553.6(WRN):c.1765G>A (p.Gly589Ser)
NM_000553.6(WRN):c.1766G>T (p.Gly589Val) rs2130173745
NM_000553.6(WRN):c.1769A>G (p.Lys590Arg) rs1060500059
NM_000553.6(WRN):c.1771A>C (p.Ile591Leu) rs1813722003
NM_000553.6(WRN):c.1774G>A (p.Gly592Ser) rs1813722215
NM_000553.6(WRN):c.1781T>G (p.Val594Gly)
NM_000553.6(WRN):c.1783A>G (p.Ile595Val) rs763482212
NM_000553.6(WRN):c.1783A>T (p.Ile595Phe) rs763482212
NM_000553.6(WRN):c.1786T>C (p.Ser596Pro)
NM_000553.6(WRN):c.1787C>T (p.Ser596Phe)
NM_000553.6(WRN):c.1790C>G (p.Pro597Arg) rs1813723319
NM_000553.6(WRN):c.1790C>T (p.Pro597Leu)
NM_000553.6(WRN):c.1798T>C (p.Ser600Pro) rs1060500057
NM_000553.6(WRN):c.1801C>G (p.Leu601Val)
NM_000553.6(WRN):c.1803_1804insGGGAGAAGCACT (p.Leu601_Met602insGlyArgSerThr)
NM_000553.6(WRN):c.1804A>G (p.Met602Val) rs1343522586
NM_000553.6(WRN):c.1804A>T (p.Met602Leu) rs1343522586
NM_000553.6(WRN):c.1810G>A (p.Asp604Asn) rs1813724324
NM_000553.6(WRN):c.1810G>T (p.Asp604Tyr)
NM_000553.6(WRN):c.1813C>G (p.Gln605Glu)
NM_000553.6(WRN):c.1815A>T (p.Gln605His) rs1813724706
NM_000553.6(WRN):c.1825C>T (p.Leu609Phe) rs1813725361
NM_000553.6(WRN):c.1829+3A>G rs1813725952
NM_000553.6(WRN):c.1830A>G (p.Lys610=)
NM_000553.6(WRN):c.1833G>A (p.Met611Ile)
NM_000553.6(WRN):c.1835C>T (p.Ser612Phe)
NM_000553.6(WRN):c.1843C>G (p.Pro615Ala) rs2130178431
NM_000553.6(WRN):c.1844C>A (p.Pro615Gln) rs1304890222
NM_000553.6(WRN):c.1846G>C (p.Ala616Pro) rs1249084291
NM_000553.6(WRN):c.1847C>T (p.Ala616Val) rs1813758509
NM_000553.6(WRN):c.1853T>C (p.Phe618Ser) rs755746575
NM_000553.6(WRN):c.1853T>G (p.Phe618Cys) rs755746575
NM_000553.6(WRN):c.1856T>C (p.Leu619Pro) rs1563345519
NM_000553.6(WRN):c.1859_1864del (p.Gly620_Ser621del)
NM_000553.6(WRN):c.1861_1863dup (p.Ser621_Ala622insSer)
NM_000553.6(WRN):c.1867C>G (p.Gln623Glu)
NM_000553.6(WRN):c.1869G>C (p.Gln623His) rs1813759561
NM_000553.6(WRN):c.1870T>C (p.Ser624Pro) rs2130178743
NM_000553.6(WRN):c.1879G>T (p.Val627Phe) rs374688634
NM_000553.6(WRN):c.187T>A (p.Ser63Thr) rs1554518310
NM_000553.6(WRN):c.187T>C (p.Ser63Pro) rs1554518310
NM_000553.6(WRN):c.1882C>A (p.Leu628Ile) rs77969734
NM_000553.6(WRN):c.1885A>G (p.Thr629Ala) rs1585442087
NM_000553.6(WRN):c.1889A>G (p.Asp630Gly)
NM_000553.6(WRN):c.1889A>T (p.Asp630Val) rs779430282
NM_000553.6(WRN):c.188C>G (p.Ser63Cys) rs1812392808
NM_000553.6(WRN):c.1897T>A (p.Leu633Ile) rs2130179043
NM_000553.6(WRN):c.1897T>C (p.Leu633=)
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.1898+4A>G
NM_000553.6(WRN):c.1898+6T>A rs1813761851
NM_000553.6(WRN):c.1899-3C>T
NM_000553.6(WRN):c.1900G>A (p.Gly634Ser) rs1814001798
NM_000553.6(WRN):c.1903A>G (p.Lys635Glu)
NM_000553.6(WRN):c.1910G>T (p.Arg637Leu) rs1287408422
NM_000553.6(WRN):c.1912A>T (p.Ile638Phe) rs1814003280
NM_000553.6(WRN):c.1915G>A (p.Val639Ile) rs1585449230
NM_000553.6(WRN):c.1919A>G (p.Tyr640Cys) rs1585449246
NM_000553.6(WRN):c.191T>C (p.Phe64Ser) rs2130005674
NM_000553.6(WRN):c.1921G>C (p.Val641Leu) rs572026265
NM_000553.6(WRN):c.1921G>T (p.Val641Leu)
NM_000553.6(WRN):c.1922T>A (p.Val641Glu) rs1060500069
NM_000553.6(WRN):c.1922T>C (p.Val641Ala)
NM_000553.6(WRN):c.1936T>A (p.Cys646Ser)
NM_000553.6(WRN):c.1937G>C (p.Cys646Ser)
NM_000553.6(WRN):c.1942G>A (p.Gly648Ser) rs780657433
NM_000553.6(WRN):c.1946A>G (p.Asn649Ser)
NM_000553.6(WRN):c.1948A>G (p.Met650Val) rs1563348619
NM_000553.6(WRN):c.194T>C (p.Leu65Pro)
NM_000553.6(WRN):c.1952G>A (p.Gly651Asp) rs1814006055
NM_000553.6(WRN):c.1954C>G (p.Leu652Val) rs1814006433
NM_000553.6(WRN):c.1965A>T (p.Gln655His) rs1481338220
NM_000553.6(WRN):c.1975G>A (p.Asp659Asn)
NM_000553.6(WRN):c.1976A>T (p.Asp659Val) rs2130203598
NM_000553.6(WRN):c.1979T>C (p.Ile660Thr)
NM_000553.6(WRN):c.1981+4A>C rs2130203712
NM_000553.6(WRN):c.1982-2A>G rs1563351045
NM_000553.6(WRN):c.1982-3C>A rs1563351038
NM_000553.6(WRN):c.1982G>C (p.Gly661Ala)
NM_000553.6(WRN):c.1984A>G (p.Ile662Val) rs781397548
NM_000553.6(WRN):c.1985T>C (p.Ile662Thr) rs1814194283
NM_000553.6(WRN):c.1991T>C (p.Leu664Pro)
NM_000553.6(WRN):c.1A>G (p.Met1Val)
NM_000553.6(WRN):c.2000T>C (p.Val667Ala)
NM_000553.6(WRN):c.2000T>G (p.Val667Gly) rs1585455505
NM_000553.6(WRN):c.2006A>G (p.Glu669Gly) rs1814196046
NM_000553.6(WRN):c.2008G>T (p.Ala670Ser) rs1814196424
NM_000553.6(WRN):c.2009C>G (p.Ala670Gly)
NM_000553.6(WRN):c.2011C>T (p.His671Tyr) rs2130229162
NM_000553.6(WRN):c.2013C>G (p.His671Gln)
NM_000553.6(WRN):c.2023G>A (p.Glu675Lys)
NM_000553.6(WRN):c.2025G>T (p.Glu675Asp)
NM_000553.6(WRN):c.2026T>A (p.Trp676Arg) rs2130229303
NM_000553.6(WRN):c.2029G>C (p.Gly677Arg)
NM_000553.6(WRN):c.202G>T (p.Asp68Tyr) rs2130005767
NM_000553.6(WRN):c.2030_2035del (p.Gly677_His678del)
NM_000553.6(WRN):c.2035G>A (p.Asp679Asn)
NM_000553.6(WRN):c.203A>G (p.Asp68Gly)
NM_000553.6(WRN):c.2045A>G (p.Asp682Gly)
NM_000553.6(WRN):c.2050T>G (p.Phe684Val) rs1012302654
NM_000553.6(WRN):c.2053A>G (p.Arg685Gly)
NM_000553.6(WRN):c.2055G>C (p.Arg685Ser)
NM_000553.6(WRN):c.2055G>T (p.Arg685Ser) rs1397209481
NM_000553.6(WRN):c.205A>G (p.Ile69Val)
NM_000553.6(WRN):c.2061G>T (p.Leu687Phe)
NM_000553.6(WRN):c.2062G>A (p.Gly688Ser) rs1408654459
NM_000553.6(WRN):c.2065T>C (p.Ser689Pro) rs1814201472
NM_000553.6(WRN):c.2066C>T (p.Ser689Phe)
NM_000553.6(WRN):c.2068C>G (p.Leu690Val) rs1585455740
NM_000553.6(WRN):c.2069T>C (p.Leu690Pro)
NM_000553.6(WRN):c.206T>C (p.Ile69Thr) rs1024495075
NM_000553.6(WRN):c.2070_2072del (p.Lys691del) rs2130230017
NM_000553.6(WRN):c.2074A>T (p.Thr692Ser) rs1814201985
NM_000553.6(WRN):c.2075C>T (p.Thr692Ile)
NM_000553.6(WRN):c.2078C>G (p.Ala693Gly) rs760090174
NM_000553.6(WRN):c.2081T>C (p.Leu694Pro) rs1554524567
NM_000553.6(WRN):c.2088+3A>G rs1814203342
NM_000553.6(WRN):c.2088+4A>G rs764132856
NM_000553.6(WRN):c.2088+4A>T rs764132856
NM_000553.6(WRN):c.2088+5G>T rs1585455825
NM_000553.6(WRN):c.2088G>A (p.Met696Ile)
NM_000553.6(WRN):c.2089-17A>T
NM_000553.6(WRN):c.2089-18C>G
NM_000553.6(WRN):c.2089-3C>A rs2130282570
NM_000553.6(WRN):c.2089-8T>A rs1585471496
NM_000553.6(WRN):c.2092C>T (p.Pro698Ser) rs752740258
NM_000553.6(WRN):c.2099T>C (p.Val700Ala) rs921289350
NM_000553.6(WRN):c.209G>A (p.Ser70Asn)
NM_000553.6(WRN):c.20A>T (p.Glu7Val)
NM_000553.6(WRN):c.210-8C>G rs1812609160
NM_000553.6(WRN):c.210-8C>T rs1812609160
NM_000553.6(WRN):c.2101G>A (p.Ala701Thr)
NM_000553.6(WRN):c.2102C>G (p.Ala701Gly)
NM_000553.6(WRN):c.2102C>T (p.Ala701Val)
NM_000553.6(WRN):c.2104C>T (p.Leu702Phe) rs748745844
NM_000553.6(WRN):c.2108C>T (p.Thr703Ile) rs201384942
NM_000553.6(WRN):c.2110G>A (p.Ala704Thr) rs1801319325
NM_000553.6(WRN):c.2113A>G (p.Thr705Ala)
NM_000553.6(WRN):c.2114_2119del (p.703TA[1]) rs2130282936
NM_000553.6(WRN):c.2116G>T (p.Ala706Ser)
NM_000553.6(WRN):c.2117C>T (p.Ala706Val) rs2130283010
NM_000553.6(WRN):c.2120G>A (p.Ser707Asn) rs1287177952
NM_000553.6(WRN):c.2126C>T (p.Ser709Leu)
NM_000553.6(WRN):c.2132G>C (p.Arg711Pro) rs750658657
NM_000553.6(WRN):c.2132G>T (p.Arg711Leu) rs750658657
NM_000553.6(WRN):c.213G>A (p.Met71Ile) rs1812609606
NM_000553.6(WRN):c.2140A>G (p.Ile714Val) rs752472638
NM_000553.6(WRN):c.2143G>A (p.Val715Ile)
NM_000553.6(WRN):c.2149T>C (p.Cys717Arg) rs1060500078
NM_000553.6(WRN):c.2149T>G (p.Cys717Gly) rs1060500078
NM_000553.6(WRN):c.2150G>A (p.Cys717Tyr) rs1801322765
NM_000553.6(WRN):c.2154A>C (p.Leu718Phe)
NM_000553.6(WRN):c.2158C>A (p.Leu720Met) rs920563936
NM_000553.6(WRN):c.2159T>A (p.Leu720Gln) rs1801323239
NM_000553.6(WRN):c.2159T>G (p.Leu720Arg) rs1801323239
NM_000553.6(WRN):c.215G>A (p.Ser72Asn) rs1812609701
NM_000553.6(WRN):c.2162G>C (p.Arg721Thr) rs1554526744
NM_000553.6(WRN):c.2162G>T (p.Arg721Ile) rs1554526744
NM_000553.6(WRN):c.2164A>T (p.Asn722Tyr)
NM_000553.6(WRN):c.2165A>C (p.Asn722Thr)
NM_000553.6(WRN):c.2166T>C (p.Asn722=) rs1334120731
NM_000553.6(WRN):c.2168C>T (p.Pro723Leu) rs778467522
NM_000553.6(WRN):c.2176A>G (p.Thr726Ala) rs1801324401
NM_000553.6(WRN):c.2177C>T (p.Thr726Ile)
NM_000553.6(WRN):c.2179T>C (p.Cys727Arg)
NM_000553.6(WRN):c.2192A>C (p.Asp731Ala) rs747317429
NM_000553.6(WRN):c.2195G>A (p.Arg732Gln) rs777084325
NM_000553.6(WRN):c.2197C>T (p.Pro733Ser) rs1563357790
NM_000553.6(WRN):c.2201A>G (p.Asn734Ser) rs762358256
NM_000553.6(WRN):c.2204T>C (p.Leu735Pro)
NM_000553.6(WRN):c.2209T>G (p.Leu737Val)
NM_000553.6(WRN):c.221C>T (p.Ser74Leu) rs878854135
NM_000553.6(WRN):c.2222G>T (p.Arg741Leu) rs766561388
NM_000553.6(WRN):c.2224A>G (p.Lys742Glu) rs1294260404
NM_000553.6(WRN):c.2230G>A (p.Gly744Arg)
NM_000553.6(WRN):c.2233A>T (p.Asn745Tyr) rs763947488
NM_000553.6(WRN):c.2234A>G (p.Asn745Ser)
NM_000553.6(WRN):c.2243A>G (p.Gln748Arg) rs2130284608
NM_000553.6(WRN):c.2245G>A (p.Asp749Asn)
NM_000553.6(WRN):c.2245G>T (p.Asp749Tyr) rs1585472057
NM_000553.6(WRN):c.2248C>A (p.Leu750Met) rs1801328672
NM_000553.6(WRN):c.224A>T (p.Asp75Val)
NM_000553.6(WRN):c.2255C>T (p.Pro752Leu)
NM_000553.6(WRN):c.2260C>T (p.Leu754Phe) rs2130284783
NM_000553.6(WRN):c.2261T>C (p.Leu754Pro)
NM_000553.6(WRN):c.2264T>C (p.Val755Ala) rs1453298113
NM_000553.6(WRN):c.2272A>G (p.Ser758Gly)
NM_000553.6(WRN):c.2273+5G>A rs2130284927
NM_000553.6(WRN):c.2274-5T>A rs1801515852
NM_000553.6(WRN):c.2274T>C (p.Ser758=) rs1801515941
NM_000553.6(WRN):c.2275T>G (p.Ser759Ala) rs2130304602
NM_000553.6(WRN):c.2278C>T (p.His760Tyr) rs2130304621
NM_000553.6(WRN):c.2279A>C (p.His760Pro) rs1801516310
NM_000553.6(WRN):c.2279A>T (p.His760Leu) rs1801516310
NM_000553.6(WRN):c.227G>A (p.Gly76Glu)
NM_000553.6(WRN):c.2281T>C (p.Trp761Arg) rs200009031
NM_000553.6(WRN):c.2282G>C (p.Trp761Ser)
NM_000553.6(WRN):c.2297C>G (p.Pro766Arg) rs748486712
NM_000553.6(WRN):c.2299A>G (p.Thr767Ala) rs756597086
NM_000553.6(WRN):c.2303T>A (p.Ile768Asn)
NM_000553.6(WRN):c.2304C>G (p.Ile768Met) rs1801518772
NM_000553.6(WRN):c.2306T>C (p.Ile769Thr) rs1801519052
NM_000553.6(WRN):c.2309A>G (p.Tyr770Cys)
NM_000553.6(WRN):c.2310C>T (p.Tyr770=)
NM_000553.6(WRN):c.2312G>A (p.Cys771Tyr) rs746161973
NM_000553.6(WRN):c.2312G>C (p.Cys771Ser) rs746161973
NM_000553.6(WRN):c.2313T>G (p.Cys771Trp)
NM_000553.6(WRN):c.2314C>T (p.Pro772Ser)
NM_000553.6(WRN):c.2317T>A (p.Ser773Thr) rs1346693264
NM_000553.6(WRN):c.2317_2319del (p.Ser773del) rs1162450384
NM_000553.6(WRN):c.2320A>G (p.Arg774Gly) rs1801520297
NM_000553.6(WRN):c.2322A>T (p.Arg774Ser)
NM_000553.6(WRN):c.2328G>A (p.Met776Ile) rs555281600
NM_000553.6(WRN):c.2329A>G (p.Thr777Ala)
NM_000553.6(WRN):c.232G>T (p.Val78Leu)
NM_000553.6(WRN):c.2330C>G (p.Thr777Arg) rs1801520843
NM_000553.6(WRN):c.2332CAA[1] (p.Gln779del) rs1266745530
NM_000553.6(WRN):c.2335C>G (p.Gln779Glu)
NM_000553.6(WRN):c.2338G>A (p.Val780Ile) rs574787451
NM_000553.6(WRN):c.2341A>G (p.Thr781Ala) rs1425977829
NM_000553.6(WRN):c.2350C>T (p.Leu784Phe) rs1585478310
NM_000553.6(WRN):c.235G>C (p.Val79Leu)
NM_000553.6(WRN):c.2360T>G (p.Leu787Arg) rs1420748565
NM_000553.6(WRN):c.2360_2361delinsCT (p.Leu787Pro) rs1585478339
NM_000553.6(WRN):c.2361_2362delinsTG (p.Asn788Asp)
NM_000553.6(WRN):c.2365C>G (p.Leu789Val) rs2130305595
NM_000553.6(WRN):c.2366T>C (p.Leu789Pro) rs767108016
NM_000553.6(WRN):c.2369C>T (p.Ser790Phe) rs1585478391
NM_000553.6(WRN):c.2372G>C (p.Cys791Ser)
NM_000553.6(WRN):c.2377A>G (p.Thr793Ala)
NM_000553.6(WRN):c.2378C>A (p.Thr793Lys) rs2130305763
NM_000553.6(WRN):c.2379A>G (p.Thr793=) rs1801525077
NM_000553.6(WRN):c.2383C>A (p.His795Asn) rs2130305810
NM_000553.6(WRN):c.2384A>C (p.His795Pro) rs1563360963
NM_000553.6(WRN):c.2384A>G (p.His795Arg) rs1563360963
NM_000553.6(WRN):c.2387C>A (p.Ala796Glu) rs779140898
NM_000553.6(WRN):c.2390G>C (p.Gly797Ala)
NM_000553.6(WRN):c.2392A>T (p.Met798Leu) rs1585478471
NM_000553.6(WRN):c.2413G>C (p.Asp805His)
NM_000553.6(WRN):c.2416A>G (p.Ile806Val) rs200935416
NM_000553.6(WRN):c.2417T>G (p.Ile806Ser) rs2130306078
NM_000553.6(WRN):c.2419C>T (p.His807Tyr) rs1440588476
NM_000553.6(WRN):c.241T>C (p.Phe81Leu)
NM_000553.6(WRN):c.2425A>G (p.Arg809Gly) rs2130306139
NM_000553.6(WRN):c.2427G>T (p.Arg809Ser) rs1801528992
NM_000553.6(WRN):c.2428T>C (p.Phe810Leu) rs1801529159
NM_000553.6(WRN):c.2431G>T (p.Val811Leu) rs1563361058
NM_000553.6(WRN):c.2435G>T (p.Arg812Ile) rs1554527801
NM_000553.6(WRN):c.2437G>A (p.Asp813Asn) rs1801529689
NM_000553.6(WRN):c.243T>G (p.Phe81Leu) rs1194660232
NM_000553.6(WRN):c.2448+3A>G rs2130306375
NM_000553.6(WRN):c.2448+6A>G rs2130306402
NM_000553.6(WRN):c.2449-3C>T rs1801670868
NM_000553.6(WRN):c.2449-9T>C
NM_000553.6(WRN):c.2450G>A (p.Cys817Tyr)
NM_000553.6(WRN):c.2453T>A (p.Val818Asp) rs1801671388
NM_000553.6(WRN):c.2455A>T (p.Ile819Leu) rs1318783357
NM_000553.6(WRN):c.245A>G (p.Asp82Gly) rs2130032172
NM_000553.6(WRN):c.245A>T (p.Asp82Val)
NM_000553.6(WRN):c.2462C>T (p.Thr821Ile) rs1276836509
NM_000553.6(WRN):c.2464A>G (p.Ile822Val) rs1188633913
NM_000553.6(WRN):c.2466A>G (p.Ile822Met) rs1585483085
NM_000553.6(WRN):c.2467G>A (p.Ala823Thr) rs774855087
NM_000553.6(WRN):c.246C>G (p.Asp82Glu)
NM_000553.6(WRN):c.246C>T (p.Asp82=)
NM_000553.6(WRN):c.2472T>G (p.Phe824Leu)
NM_000553.6(WRN):c.247A>G (p.Met83Val) rs1812610683
NM_000553.6(WRN):c.2480G>A (p.Gly827Asp) rs1490787455
NM_000553.6(WRN):c.2481C>T (p.Gly827=)
NM_000553.6(WRN):c.2482A>G (p.Ile828Val) rs1585483118
NM_000553.6(WRN):c.2485A>C (p.Asn829His)
NM_000553.6(WRN):c.248T>C (p.Met83Thr) rs1812610778
NM_000553.6(WRN):c.2498T>C (p.Ile833Thr)
NM_000553.6(WRN):c.249G>A (p.Met83Ile)
NM_000553.6(WRN):c.2501G>T (p.Arg834Leu) rs201442356
NM_000553.6(WRN):c.2505A>C (p.Gln835His) rs1554528366
NM_000553.6(WRN):c.250G>C (p.Glu84Gln) rs1439455852
NM_000553.6(WRN):c.2512C>A (p.His838Asn)
NM_000553.6(WRN):c.2512C>T (p.His838Tyr)
NM_000553.6(WRN):c.2521G>C (p.Ala841Pro)
NM_000553.6(WRN):c.2522C>T (p.Ala841Val) rs755249893
NM_000553.6(WRN):c.2523T>G (p.Ala841=) rs1801674895
NM_000553.6(WRN):c.2524C>T (p.Pro842Ser) rs1801675024
NM_000553.6(WRN):c.2527A>G (p.Lys843Glu)
NM_000553.6(WRN):c.252_266del (p.Glu84_Tyr89delinsAsp) rs772594712
NM_000553.6(WRN):c.2530G>T (p.Asp844Tyr)
NM_000553.6(WRN):c.2531A>G (p.Asp844Gly)
NM_000553.6(WRN):c.2533A>G (p.Met845Val) rs1801675452
NM_000553.6(WRN):c.2536_2537delinsAT (p.Glu846Ile)
NM_000553.6(WRN):c.2537A>C (p.Glu846Ala)
NM_000553.6(WRN):c.2537A>G (p.Glu846Gly) rs886062890
NM_000553.6(WRN):c.2545T>C (p.Tyr849His) rs757089385
NM_000553.6(WRN):c.2546A>G (p.Tyr849Cys)
NM_000553.6(WRN):c.2548C>G (p.Gln850Glu)
NM_000553.6(WRN):c.2552A>G (p.Glu851Gly)
NM_000553.6(WRN):c.2557G>A (p.Gly853Ser) rs1554528396
NM_000553.6(WRN):c.2557G>C (p.Gly853Arg)
NM_000553.6(WRN):c.2558G>A (p.Gly853Asp)
NM_000553.6(WRN):c.2564C>G (p.Ala855Gly) rs1284001743
NM_000553.6(WRN):c.2569C>G (p.Arg857Gly) rs201188293
NM_000553.6(WRN):c.2569_2571dup (p.Arg857dup) rs775125764
NM_000553.6(WRN):c.2575G>A (p.Gly859Arg) rs1801678220
NM_000553.6(WRN):c.2576G>A (p.Gly859Glu)
NM_000553.6(WRN):c.2578C>G (p.Leu860Val) rs1801678444
NM_000553.6(WRN):c.2582A>T (p.Gln861Leu)
NM_000553.6(WRN):c.2584A>G (p.Ser862Gly) rs2130322964
NM_000553.6(WRN):c.2591G>C (p.Cys864Ser) rs1801679100
NM_000553.6(WRN):c.259C>G (p.Pro87Ala) rs1207207781
NM_000553.6(WRN):c.2600_2601delinsGT (p.Leu867Arg)
NM_000553.6(WRN):c.2605G>T (p.Ala869Ser)
NM_000553.6(WRN):c.2609C>T (p.Pro870Leu)
NM_000553.6(WRN):c.2614G>A (p.Asp872Asn) rs1554528417
NM_000553.6(WRN):c.2616C>G (p.Asp872Glu)
NM_000553.6(WRN):c.2629A>G (p.Arg877Gly) rs1801681446
NM_000553.6(WRN):c.2630+12T>G
NM_000553.6(WRN):c.2630+3A>G rs1224754548
NM_000553.6(WRN):c.2630+5A>C rs773710561
NM_000553.6(WRN):c.2630+6A>G rs1242715690
NM_000553.6(WRN):c.2630G>C (p.Arg877Thr) rs2130323327
NM_000553.6(WRN):c.2631-3C>T rs576879904
NM_000553.6(WRN):c.2631-5G>T
NM_000553.6(WRN):c.2631-6C>A rs776268892
NM_000553.6(WRN):c.2631-6C>G rs776268892
NM_000553.6(WRN):c.2631-8A>G rs552448152
NM_000553.6(WRN):c.2631G>T (p.Arg877Ser) rs913325260
NM_000553.6(WRN):c.2635CTT[1] (p.Leu880del) rs749180567
NM_000553.6(WRN):c.2642C>T (p.Thr881Ile) rs2130342542
NM_000553.6(WRN):c.2648T>A (p.Ile883Lys) rs978748975
NM_000553.6(WRN):c.2650C>G (p.Arg884Gly) rs763297475
NM_000553.6(WRN):c.2653A>G (p.Asn885Asp)
NM_000553.6(WRN):c.2654A>C (p.Asn885Thr) rs1166678420
NM_000553.6(WRN):c.2654A>G (p.Asn885Ser) rs1166678420
NM_000553.6(WRN):c.2655T>A (p.Asn885Lys) rs1368942610
NM_000553.6(WRN):c.2657A>G (p.Glu886Gly)
NM_000553.6(WRN):c.2671T>C (p.Tyr891His) rs377553274
NM_000553.6(WRN):c.2677T>G (p.Leu893Val) rs764367192
NM_000553.6(WRN):c.2683A>G (p.Met895Val) rs1585489649
NM_000553.6(WRN):c.2683A>T (p.Met895Leu) rs1585489649
NM_000553.6(WRN):c.2685G>A (p.Met895Ile)
NM_000553.6(WRN):c.2685G>C (p.Met895Ile) rs1801846868
NM_000553.6(WRN):c.2689G>T (p.Ala897Ser) rs760902935
NM_000553.6(WRN):c.268A>C (p.Asn90His)
NM_000553.6(WRN):c.2692A>C (p.Lys898Gln)
NM_000553.6(WRN):c.2695A>T (p.Met899Leu) rs1225450393
NM_000553.6(WRN):c.269A>G (p.Asn90Ser) rs1812611292
NM_000553.6(WRN):c.26C>T (p.Thr9Ile) rs1812358866
NM_000553.6(WRN):c.2701A>G (p.Lys901Glu)
NM_000553.6(WRN):c.2705A>G (p.Tyr902Cys) rs1341524063
NM_000553.6(WRN):c.2707C>G (p.Leu903Val) rs1563365632
NM_000553.6(WRN):c.270T>G (p.Asn90Lys) rs148758902
NM_000553.6(WRN):c.2713T>A (p.Ser905Thr) rs1554529187
NM_000553.6(WRN):c.2717G>A (p.Ser906Asn)
NM_000553.6(WRN):c.2718_2723del (p.Cys908_Arg909del) rs2130343046
NM_000553.6(WRN):c.271A>G (p.Arg91Gly) rs2130032437
NM_000553.6(WRN):c.2721A>T (p.Arg907Ser) rs751513363
NM_000553.6(WRN):c.2725A>G (p.Arg909Gly)
NM_000553.6(WRN):c.2732+11_2732+13del
NM_000553.6(WRN):c.2732+3A>G rs1801849792
NM_000553.6(WRN):c.2732+4T>G rs1262068970
NM_000553.6(WRN):c.2733-16A>G rs2130344195
NM_000553.6(WRN):c.2733-6G>A rs2130344241
NM_000553.6(WRN):c.2733-8T>G rs1801859029
NM_000553.6(WRN):c.2736C>T (p.Ile912=)
NM_000553.6(WRN):c.2738T>C (p.Ile913Thr) rs1801859882
NM_000553.6(WRN):c.2742G>T (p.Leu914Phe)
NM_000553.6(WRN):c.2744C>A (p.Ser915Tyr)
NM_000553.6(WRN):c.2750T>C (p.Phe917Ser) rs1801860436
NM_000553.6(WRN):c.2752G>A (p.Glu918Lys)
NM_000553.6(WRN):c.2756A>G (p.Asp919Gly)
NM_000553.6(WRN):c.275G>A (p.Gly92Glu) rs1554518986
NM_000553.6(WRN):c.2761C>G (p.Gln921Glu)
NM_000553.6(WRN):c.2765T>A (p.Val922Glu)
NM_000553.6(WRN):c.2768A>C (p.Gln923Pro) rs2130344539
NM_000553.6(WRN):c.2773G>T (p.Ala925Ser) rs1554529233
NM_000553.6(WRN):c.2776T>G (p.Ser926Ala) rs1585490248
NM_000553.6(WRN):c.2785A>G (p.Ile929Val) rs1801861589
NM_000553.6(WRN):c.2788A>G (p.Met930Val) rs2130344654
NM_000553.6(WRN):c.2790G>A (p.Met930Ile)
NM_000553.6(WRN):c.2791G>A (p.Gly931Arg) rs1801861810
NM_000553.6(WRN):c.2792G>A (p.Gly931Glu) rs1380038998
NM_000553.6(WRN):c.2806T>G (p.Cys936Gly) rs1801862418
NM_000553.6(WRN):c.2807G>A (p.Cys936Tyr) rs1801862577
NM_000553.6(WRN):c.280C>G (p.Leu94Val)
NM_000553.6(WRN):c.2816G>T (p.Cys939Phe) rs2130344789
NM_000553.6(WRN):c.281T>C (p.Leu94Pro)
NM_000553.6(WRN):c.2821T>C (p.Ser941Pro)
NM_000553.6(WRN):c.2826A>G (p.Arg942=)
NM_000553.6(WRN):c.2830G>A (p.Asp944Asn) rs1802213264
NM_000553.6(WRN):c.2831A>G (p.Asp944Gly) rs1311166394
NM_000553.6(WRN):c.2839T>C (p.Tyr947His) rs760584509
NM_000553.6(WRN):c.2847G>A (p.Met949Ile) rs1554530875
NM_000553.6(WRN):c.2850T>G (p.Asp950Glu) rs1012917204
NM_000553.6(WRN):c.2860G>A (p.Asp954Asn) rs1802214861
NM_000553.6(WRN):c.2861A>G (p.Asp954Gly)
NM_000553.6(WRN):c.2861A>T (p.Asp954Val)
NM_000553.6(WRN):c.2864C>T (p.Thr955Ile) rs2130376802
NM_000553.6(WRN):c.2867C>T (p.Ser956Phe) rs1223775311
NM_000553.6(WRN):c.2870G>T (p.Trp957Leu) rs1802215643
NM_000553.6(WRN):c.2879G>A (p.Gly960Asp) rs1554530888
NM_000553.6(WRN):c.2887G>A (p.Ala963Thr) rs1228313718
NM_000553.6(WRN):c.2887G>C (p.Ala963Pro)
NM_000553.6(WRN):c.2891T>G (p.Phe964Cys) rs1554530895
NM_000553.6(WRN):c.2893A>G (p.Lys965Glu)
NM_000553.6(WRN):c.289G>T (p.Val97Phe) rs757573403
NM_000553.6(WRN):c.28G>A (p.Ala10Thr)
NM_000553.6(WRN):c.2903C>T (p.Ser968Phe)
NM_000553.6(WRN):c.2911G>A (p.Asp971Asn) rs1412215836
NM_000553.6(WRN):c.2912A>C (p.Asp971Ala) rs1585502189
NM_000553.6(WRN):c.2915T>C (p.Ile972Thr) rs2130377284
NM_000553.6(WRN):c.2921G>T (p.Gly974Val)
NM_000553.6(WRN):c.2927A>C (p.Lys976Thr)
NM_000553.6(WRN):c.2927A>G (p.Lys976Arg) rs1802219508
NM_000553.6(WRN):c.292G>A (p.Ala98Thr) rs1812612414
NM_000553.6(WRN):c.292G>C (p.Ala98Pro) rs1812612414
NM_000553.6(WRN):c.2936T>C (p.Ile979Thr) rs775356894
NM_000553.6(WRN):c.2939G>A (p.Gly980Glu)
NM_000553.6(WRN):c.293C>T (p.Ala98Val) rs1812612522
NM_000553.6(WRN):c.2941C>T (p.Leu981Phe) rs2130377578
NM_000553.6(WRN):c.2942T>G (p.Leu981Arg) rs1802221223
NM_000553.6(WRN):c.2959C>G (p.Arg987Gly) rs747319628
NM_000553.6(WRN):c.295C>G (p.Leu99Val) rs1585408279
NM_000553.6(WRN):c.2963G>T (p.Gly988Val) rs1554530947
NM_000553.6(WRN):c.2967+5G>A
NM_000553.6(WRN):c.2967+6T>C
NM_000553.6(WRN):c.2968-3C>T rs1401784396
NM_000553.6(WRN):c.2968-5T>A
NM_000553.6(WRN):c.2968-6T>G rs2130414144
NM_000553.6(WRN):c.296T>C (p.Leu99Pro) rs1190256514
NM_000553.6(WRN):c.2972C>A (p.Ser991Tyr) rs1235144745
NM_000553.6(WRN):c.2972C>T (p.Ser991Phe) rs1235144745
NM_000553.6(WRN):c.2976G>T (p.Gln992His) rs1802623961
NM_000553.6(WRN):c.2977C>A (p.Arg993Ser) rs749330842
NM_000553.6(WRN):c.2977C>T (p.Arg993Cys) rs749330842
NM_000553.6(WRN):c.2980C>T (p.Leu994Phe) rs878854137
NM_000553.6(WRN):c.298A>G (p.Ile100Val) rs1812612923
NM_000553.6(WRN):c.2991A>C (p.Gln997His) rs1487585191
NM_000553.6(WRN):c.2991A>T (p.Gln997His) rs1487585191
NM_000553.6(WRN):c.2993A>G (p.Tyr998Cys) rs1802625349
NM_000553.6(WRN):c.2996G>C (p.Arg999Pro) rs769665299
NM_000553.6(WRN):c.2996G>T (p.Arg999Leu) rs769665299
NM_000553.6(WRN):c.3000G>C (p.Arg1000Ser) rs886062891
NM_000553.6(WRN):c.3002A>G (p.His1001Arg) rs2130414628
NM_000553.6(WRN):c.3003C>G (p.His1001Gln) rs1802626328
NM_000553.6(WRN):c.3005G>C (p.Ser1002Thr) rs1802626569
NM_000553.6(WRN):c.3011T>C (p.Phe1004Ser) rs796744821
NM_000553.6(WRN):c.3019G>A (p.Gly1007Ser) rs1585514384
NM_000553.6(WRN):c.3020G>C (p.Gly1007Ala) rs2130414792
NM_000553.6(WRN):c.3032C>T (p.Thr1011Ile) rs1802628055
NM_000553.6(WRN):c.3038G>C (p.Ser1013Thr) rs1802628625
NM_000553.6(WRN):c.303G>T (p.Gln101His)
NM_000553.6(WRN):c.3046A>G (p.Lys1016Glu) rs1585514476
NM_000553.6(WRN):c.3047A>G (p.Lys1016Arg) rs1585514485
NM_000553.6(WRN):c.3062A>G (p.Gln1021Arg) rs1802629716
NM_000553.6(WRN):c.3063G>T (p.Gln1021His) rs778382412
NM_000553.6(WRN):c.3070A>G (p.Thr1024Ala) rs1563376455
NM_000553.6(WRN):c.3071C>T (p.Thr1024Ile)
NM_000553.6(WRN):c.3076G>A (p.Gly1026Arg)
NM_000553.6(WRN):c.3078A>G (p.Gly1026=) rs886062892
NM_000553.6(WRN):c.3079T>C (p.Phe1027Leu) rs2130415539
NM_000553.6(WRN):c.307T>C (p.Cys103Arg) rs2130032852
NM_000553.6(WRN):c.3080T>A (p.Phe1027Tyr) rs1802630504
NM_000553.6(WRN):c.3080T>C (p.Phe1027Ser) rs1802630504
NM_000553.6(WRN):c.3084G>C (p.Leu1028Phe) rs1441989719
NM_000553.6(WRN):c.308G>A (p.Cys103Tyr) rs1812613422
NM_000553.6(WRN):c.3091G>A (p.Val1031Ile) rs138492730
NM_000553.6(WRN):c.3098G>T (p.Arg1033Leu) rs367789256
NM_000553.6(WRN):c.3101A>G (p.Tyr1034Cys)
NM_000553.6(WRN):c.3105C>G (p.Asn1035Lys)
NM_000553.6(WRN):c.3106A>G (p.Lys1036Glu)
NM_000553.6(WRN):c.3109T>G (p.Phe1037Val) rs2130415986
NM_000553.6(WRN):c.310G>C (p.Val104Leu)
NM_000553.6(WRN):c.3110T>G (p.Phe1037Cys)
NM_000553.6(WRN):c.3114G>A (p.Met1038Ile) rs1802634948
NM_000553.6(WRN):c.3121T>C (p.Cys1041Arg) rs2130416100
NM_000553.6(WRN):c.3122G>A (p.Cys1041Tyr) rs1802635322
NM_000553.6(WRN):c.3122G>C (p.Cys1041Ser)
NM_000553.6(WRN):c.3125C>A (p.Ala1042Asp) rs759240091
NM_000553.6(WRN):c.3131C>G (p.Thr1044Arg)
NM_000553.6(WRN):c.3133A>G (p.Lys1045Glu) rs1009990257
NM_000553.6(WRN):c.3138+4A>G rs1802637517
NM_000553.6(WRN):c.3139-4A>G
NM_000553.6(WRN):c.3139-8T>A
NM_000553.6(WRN):c.3140G>T (p.Gly1047Val) rs1802642530
NM_000553.6(WRN):c.3143G>A (p.Arg1048Lys)
NM_000553.6(WRN):c.3143G>C (p.Arg1048Thr) rs2130417043
NM_000553.6(WRN):c.3146A>G (p.Asn1049Ser) rs1463731424
NM_000553.6(WRN):c.3148T>C (p.Trp1050Arg) rs777537726
NM_000553.6(WRN):c.3148T>G (p.Trp1050Gly) rs777537726
NM_000553.6(WRN):c.3154C>T (p.His1052Tyr) rs1402031138
NM_000553.6(WRN):c.3163A>C (p.Asn1055His)
NM_000553.6(WRN):c.3163A>G (p.Asn1055Asp)
NM_000553.6(WRN):c.3169G>C (p.Glu1057Gln)
NM_000553.6(WRN):c.3172T>A (p.Ser1058Thr)
NM_000553.6(WRN):c.3173C>T (p.Ser1058Phe) rs147294573
NM_000553.6(WRN):c.3176A>G (p.Gln1059Arg) rs1802644502
NM_000553.6(WRN):c.3178A>G (p.Ser1060Gly)
NM_000553.6(WRN):c.3181C>T (p.Leu1061Phe)
NM_000553.6(WRN):c.3182T>C (p.Leu1061Pro) rs2130417378
NM_000553.6(WRN):c.3187C>T (p.Leu1063Phe)
NM_000553.6(WRN):c.3196A>G (p.Asn1066Asp) rs760392886
NM_000553.6(WRN):c.3199G>A (p.Glu1067Lys)
NM_000553.6(WRN):c.319A>C (p.Ser107Arg) rs1563329506
NM_000553.6(WRN):c.3201A>C (p.Glu1067Asp)
NM_000553.6(WRN):c.3208T>C (p.Cys1070Arg) rs1802646417
NM_000553.6(WRN):c.3209_3211delinsTTT (p.Cys1070_Pro1071delinsPheSer) rs878854138
NM_000553.6(WRN):c.320G>A (p.Ser107Asn) rs1812614058
NM_000553.6(WRN):c.3211C>A (p.Pro1071Thr) rs61761623
NM_000553.6(WRN):c.3214A>G (p.Lys1072Glu) rs1585515069
NM_000553.6(WRN):c.3216G>A (p.Lys1072=)
NM_000553.6(WRN):c.321C>G (p.Ser107Arg) rs1563329515
NM_000553.6(WRN):c.3223C>T (p.Leu1075Phe)
NM_000553.6(WRN):c.3224T>G (p.Leu1075Arg)
NM_000553.6(WRN):c.3232A>G (p.Ser1078Gly) rs543930395
NM_000553.6(WRN):c.3233+14T>G
NM_000553.6(WRN):c.3233+5A>G rs1802648496
NM_000553.6(WRN):c.3233G>A (p.Ser1078Asn)
NM_000553.6(WRN):c.3235T>A (p.Ser1079Thr) rs2130421699
NM_000553.6(WRN):c.3238A>G (p.Lys1080Glu) rs1288018118
NM_000553.6(WRN):c.323A>G (p.Lys108Arg) rs1585408352
NM_000553.6(WRN):c.3241A>G (p.Thr1081Ala) rs1563377311
NM_000553.6(WRN):c.3254G>C (p.Gly1085Ala) rs1585516331
NM_000553.6(WRN):c.3257C>G (p.Thr1086Ser)
NM_000553.6(WRN):c.3272A>G (p.Tyr1091Cys) rs1802691729
NM_000553.6(WRN):c.3277C>A (p.Gln1093Lys) rs1802691916
NM_000553.6(WRN):c.3280G>A (p.Val1094Ile) rs1177192583
NM_000553.6(WRN):c.3281T>G (p.Val1094Gly) rs1563377393
NM_000553.6(WRN):c.3283C>T (p.Pro1095Ser) rs779724704
NM_000553.6(WRN):c.3286G>C (p.Val1096Leu) rs987581093
NM_000553.6(WRN):c.3290A>G (p.Glu1097Gly)
NM_000553.6(WRN):c.3294A>T (p.Leu1098Phe) rs1802693310
NM_000553.6(WRN):c.3295A>G (p.Ser1099Gly) rs1802693462
NM_000553.6(WRN):c.329A>T (p.Tyr110Phe)
NM_000553.6(WRN):c.32A>C (p.Gln11Pro) rs1210013520
NM_000553.6(WRN):c.3304AAG[1] (p.Lys1103del) rs935598563
NM_000553.6(WRN):c.3305A>C (p.Lys1102Thr) rs1585516428
NM_000553.6(WRN):c.3306G>T (p.Lys1102Asn)
NM_000553.6(WRN):c.3307A>G (p.Lys1103Glu)
NM_000553.6(WRN):c.3309G>C (p.Lys1103Asn) rs770117143
NM_000553.6(WRN):c.3310-11T>C
NM_000553.6(WRN):c.3310-15T>C
NM_000553.6(WRN):c.3310-5T>C
NM_000553.6(WRN):c.3315C>G (p.Asn1105Lys)
NM_000553.6(WRN):c.3319G>A (p.Glu1107Lys)
NM_000553.6(WRN):c.3321G>T (p.Glu1107Asp) rs1228541145
NM_000553.6(WRN):c.3323A>G (p.Lys1108Arg) rs201274303
NM_000553.6(WRN):c.3325T>G (p.Leu1109Val) rs1802744516
NM_000553.6(WRN):c.3328T>G (p.Tyr1110Asp) rs368115321
NM_000553.6(WRN):c.3329A>T (p.Tyr1110Phe)
NM_000553.6(WRN):c.3339A>T (p.Lys1113Asn) rs1802745176
NM_000553.6(WRN):c.3344G>A (p.Cys1115Tyr) rs1802745669
NM_000553.6(WRN):c.3346G>A (p.Asp1116Asn)
NM_000553.6(WRN):c.334T>G (p.Phe112Val)
NM_000553.6(WRN):c.3350A>C (p.Lys1117Thr) rs771167567
NM_000553.6(WRN):c.3351G>C (p.Lys1117Asn) rs774886450
NM_000553.6(WRN):c.3352A>T (p.Ile1118Phe) rs1585517864
NM_000553.6(WRN):c.3356C>T (p.Ser1119Phe) rs1802746556
NM_000553.6(WRN):c.3361G>T (p.Gly1121Trp) rs2130427081
NM_000553.6(WRN):c.3362G>C (p.Gly1121Ala)
NM_000553.6(WRN):c.3364A>G (p.Ser1122Gly) rs2130427104
NM_000553.6(WRN):c.3364A>T (p.Ser1122Cys)
NM_000553.6(WRN):c.3365G>A (p.Ser1122Asn) rs772205458
NM_000553.6(WRN):c.3365G>C (p.Ser1122Thr) rs772205458
NM_000553.6(WRN):c.3374C>T (p.Ser1125Phe)
NM_000553.6(WRN):c.3377A>G (p.Lys1126Arg) rs1802747616
NM_000553.6(WRN):c.3382A>T (p.Ser1128Cys) rs1169330916
NM_000553.6(WRN):c.3383+11_3383+12delinsTT
NM_000553.6(WRN):c.3383+4C>A rs1802748636
NM_000553.6(WRN):c.3384-5T>G
NM_000553.6(WRN):c.3386T>A (p.Ile1129Asn)
NM_000553.6(WRN):c.3386T>C (p.Ile1129Thr) rs761932192
NM_000553.6(WRN):c.3386T>G (p.Ile1129Ser) rs761932192
NM_000553.6(WRN):c.3388A>C (p.Met1130Leu) rs532384887
NM_000553.6(WRN):c.3389T>C (p.Met1130Thr) rs774227681
NM_000553.6(WRN):c.3390G>A (p.Met1130Ile) rs2130438367
NM_000553.6(WRN):c.3391G>A (p.Val1131Ile)
NM_000553.6(WRN):c.3398C>T (p.Ser1133Leu) rs1802883306
NM_000553.6(WRN):c.3403G>A (p.Glu1135Lys)
NM_000553.6(WRN):c.3403G>C (p.Glu1135Gln) rs2130438517
NM_000553.6(WRN):c.3406A>G (p.Lys1136Glu) rs1563380061
NM_000553.6(WRN):c.3409G>A (p.Ala1137Thr) rs545826298
NM_000553.6(WRN):c.340G>C (p.Val114Leu) rs2230009
NM_000553.6(WRN):c.340G>T (p.Val114Phe) rs2230009
NM_000553.6(WRN):c.3416G>T (p.Ser1139Ile)
NM_000553.6(WRN):c.3418T>G (p.Ser1140Ala) rs1554533914
NM_000553.6(WRN):c.3419C>A (p.Ser1140Tyr) rs760280044
NM_000553.6(WRN):c.3419C>T (p.Ser1140Phe) rs760280044
NM_000553.6(WRN):c.341T>C (p.Val114Ala) rs1339754023
NM_000553.6(WRN):c.3426G>C (p.Gln1142His)
NM_000553.6(WRN):c.3427C>T (p.Pro1143Ser)
NM_000553.6(WRN):c.3430G>T (p.Val1144Phe) rs2130438955
NM_000553.6(WRN):c.3431T>C (p.Val1144Ala) rs1361927185
NM_000553.6(WRN):c.3433A>C (p.Ile1145Leu) rs756835995
NM_000553.6(WRN):c.3434T>C (p.Ile1145Thr) rs760910926
NM_000553.6(WRN):c.3439G>T (p.Ala1147Ser) rs868755903
NM_000553.6(WRN):c.3440C>A (p.Ala1147Glu)
NM_000553.6(WRN):c.3440C>T (p.Ala1147Val) rs1802887070
NM_000553.6(WRN):c.3445G>C (p.Glu1149Gln)
NM_000553.6(WRN):c.3449A>G (p.Gln1150Arg)
NM_000553.6(WRN):c.3451G>A (p.Glu1151Lys) rs1802887261
NM_000553.6(WRN):c.3452A>G (p.Glu1151Gly) rs1396993219
NM_000553.6(WRN):c.3454A>G (p.Thr1152Ala) rs1309001891
NM_000553.6(WRN):c.3455C>G (p.Thr1152Ser) rs200240557
NM_000553.6(WRN):c.3459+3A>G rs2130439428
NM_000553.6(WRN):c.3459+4A>C
NM_000553.6(WRN):c.3459+6G>A rs781501590
NM_000553.6(WRN):c.3459G>A (p.Gln1153=) rs1802888249
NM_000553.6(WRN):c.3461T>C (p.Ile1154Thr) rs1463812768
NM_000553.6(WRN):c.3468A>T (p.Leu1156Phe) rs576208057
NM_000553.6(WRN):c.3469T>C (p.Tyr1157His) rs1413539358
NM_000553.6(WRN):c.3472G>T (p.Gly1158Cys) rs1060500079
NM_000553.6(WRN):c.3476A>G (p.Lys1159Arg)
NM_000553.6(WRN):c.3477A>T (p.Lys1159Asn) rs1802900514
NM_000553.6(WRN):c.3481G>A (p.Val1161Ile)
NM_000553.6(WRN):c.3487G>A (p.Ala1163Thr) rs1802900868
NM_000553.6(WRN):c.3494A>C (p.Gln1165Pro)
NM_000553.6(WRN):c.3494A>G (p.Gln1165Arg) rs1308927977
NM_000553.6(WRN):c.3499C>T (p.His1167Tyr) rs1255250156
NM_000553.6(WRN):c.3506A>G (p.Asn1169Ser) rs587778750
NM_000553.6(WRN):c.3511A>G (p.Met1171Val) rs1802902197
NM_000553.6(WRN):c.3512T>C (p.Met1171Thr) rs1802902314
NM_000553.6(WRN):c.3513G>T (p.Met1171Ile)
NM_000553.6(WRN):c.3515A>C (p.Asp1172Ala)
NM_000553.6(WRN):c.3523C>A (p.Pro1175Thr)
NM_000553.6(WRN):c.3523C>G (p.Pro1175Ala)
NM_000553.6(WRN):c.3523C>T (p.Pro1175Ser) rs768430448
NM_000553.6(WRN):c.3526G>A (p.Ala1176Thr) rs1585522638
NM_000553.6(WRN):c.3527C>G (p.Ala1176Gly)
NM_000553.6(WRN):c.3527C>T (p.Ala1176Val)
NM_000553.6(WRN):c.3529A>G (p.Ile1177Val) rs761354888
NM_000553.6(WRN):c.3535G>A (p.Ala1179Thr) rs868438861
NM_000553.6(WRN):c.3535G>T (p.Ala1179Ser) rs868438861
NM_000553.6(WRN):c.3536C>A (p.Ala1179Glu) rs2130441083
NM_000553.6(WRN):c.3543C>A (p.Asn1181Lys) rs930514920
NM_000553.6(WRN):c.3544A>G (p.Lys1182Glu) rs2130441164
NM_000553.6(WRN):c.3547A>T (p.Ile1183Leu)
NM_000553.6(WRN):c.355+5G>A
NM_000553.6(WRN):c.3554T>C (p.Val1185Ala)
NM_000553.6(WRN):c.3557A>G (p.Asp1186Gly) rs1585522712
NM_000553.6(WRN):c.355G>T (p.Val119Phe)
NM_000553.6(WRN):c.356-3C>T rs1812634399
NM_000553.6(WRN):c.356-3_356-2del rs1812634282
NM_000553.6(WRN):c.356-4A>G rs1812634176
NM_000553.6(WRN):c.356-8T>G
NM_000553.6(WRN):c.3560T>G (p.Met1187Arg)
NM_000553.6(WRN):c.3561G>T (p.Met1187Ile)
NM_000553.6(WRN):c.3563C>T (p.Ala1188Val) rs2130441305
NM_000553.6(WRN):c.3570G>A (p.Met1190Ile)
NM_000553.6(WRN):c.3573A>G (p.Arg1191=)
NM_000553.6(WRN):c.3578C>A (p.Thr1193Asn) rs1267766243
NM_000553.6(WRN):c.3580A>G (p.Thr1194Ala) rs754007268
NM_000553.6(WRN):c.3582G>A (p.Thr1194=) rs762685242
NM_000553.6(WRN):c.3583G>A (p.Val1195Ile) rs1294563093
NM_000553.6(WRN):c.3590A>G (p.Asn1197Ser) rs1803072234
NM_000553.6(WRN):c.3591C>A (p.Asn1197Lys) rs151143960
NM_000553.6(WRN):c.3591C>G (p.Asn1197Lys) rs151143960
NM_000553.6(WRN):c.3592G>C (p.Val1198Leu) rs147116477
NM_000553.6(WRN):c.3596A>G (p.Lys1199Arg) rs1037681053
NM_000553.6(WRN):c.3598A>T (p.Arg1200Trp)
NM_000553.6(WRN):c.3599G>C (p.Arg1200Thr)
NM_000553.6(WRN):c.35A>C (p.Gln12Pro)
NM_000553.6(WRN):c.3600G>T (p.Arg1200Ser)
NM_000553.6(WRN):c.3601A>G (p.Ile1201Val)
NM_000553.6(WRN):c.3601A>T (p.Ile1201Phe) rs2130454038
NM_000553.6(WRN):c.3607G>A (p.Gly1203Ser) rs1803073662
NM_000553.6(WRN):c.3608G>A (p.Gly1203Asp) rs2130454089
NM_000553.6(WRN):c.3611T>C (p.Val1204Ala)
NM_000553.6(WRN):c.3616G>A (p.Glu1206Lys) rs746082406
NM_000553.6(WRN):c.3625G>T (p.Ala1209Ser)
NM_000553.6(WRN):c.3629C>T (p.Ala1210Val) rs2130454289
NM_000553.6(WRN):c.362C>G (p.Pro121Arg) rs768174465
NM_000553.6(WRN):c.3632T>A (p.Met1211Lys)
NM_000553.6(WRN):c.3632T>C (p.Met1211Thr) rs2130454327
NM_000553.6(WRN):c.3638C>T (p.Ala1213Val)
NM_000553.6(WRN):c.3640C>G (p.Pro1214Ala) rs371980000
NM_000553.6(WRN):c.3640C>T (p.Pro1214Ser) rs371980000
NM_000553.6(WRN):c.3641C>T (p.Pro1214Leu) rs1803076066
NM_000553.6(WRN):c.3643C>G (p.Leu1215Val) rs1563382539
NM_000553.6(WRN):c.3647T>G (p.Leu1216Trp) rs1803076697
NM_000553.6(WRN):c.3659A>C (p.Lys1220Thr) rs755045369
NM_000553.6(WRN):c.3659A>G (p.Lys1220Arg) rs755045369
NM_000553.6(WRN):c.3661C>T (p.His1221Tyr) rs1173875881
NM_000553.6(WRN):c.3664T>C (p.Phe1222Leu)
NM_000553.6(WRN):c.3668G>T (p.Cys1223Phe) rs773929985
NM_000553.6(WRN):c.3674C>A (p.Thr1225Lys)
NM_000553.6(WRN):c.3676A>G (p.Asn1226Asp) rs566277794
NM_000553.6(WRN):c.3679A>G (p.Ser1227Gly) rs1563382585
NM_000553.6(WRN):c.3679A>T (p.Ser1227Cys) rs1563382585
NM_000553.6(WRN):c.3683T>G (p.Val1228Gly)
NM_000553.6(WRN):c.3687+3A>G rs764656814
NM_000553.6(WRN):c.3687G>A (p.Gln1229=)
NM_000553.6(WRN):c.3688-3T>C rs1554535709
NM_000553.6(WRN):c.368G>A (p.Gly123Glu)
NM_000553.6(WRN):c.3692A>G (p.Asp1231Gly)
NM_000553.6(WRN):c.3694C>G (p.Leu1232Val)
NM_000553.6(WRN):c.3694C>T (p.Leu1232Phe)
NM_000553.6(WRN):c.3706A>G (p.Thr1236Ala)
NM_000553.6(WRN):c.3707C>T (p.Thr1236Ile)
NM_000553.6(WRN):c.3713C>T (p.Pro1238Leu) rs1060500070
NM_000553.6(WRN):c.3716A>C (p.Gln1239Pro) rs2130469868
NM_000553.6(WRN):c.3717A>T (p.Gln1239His)
NM_000553.6(WRN):c.3718GAA[1] (p.Glu1241del) rs1803302755
NM_000553.6(WRN):c.371T>C (p.Leu124Ser)
NM_000553.6(WRN):c.3724C>A (p.Gln1242Lys) rs762379051
NM_000553.6(WRN):c.3727A>C (p.Lys1243Gln) rs2130470007
NM_000553.6(WRN):c.3734G>T (p.Ser1245Ile) rs1803303742
NM_000553.6(WRN):c.3736C>G (p.Leu1246Val)
NM_000553.6(WRN):c.3737T>C (p.Leu1246Pro)
NM_000553.6(WRN):c.3739G>C (p.Val1247Leu)
NM_000553.6(WRN):c.3749A>G (p.Asn1250Ser) rs1444923615
NM_000553.6(WRN):c.3755T>C (p.Ile1252Thr) rs751754209
NM_000553.6(WRN):c.3757T>A (p.Cys1253Ser) rs1217555849
NM_000553.6(WRN):c.3758G>A (p.Cys1253Tyr) rs2130470272
NM_000553.6(WRN):c.3761C>T (p.Thr1254Ile) rs1248278851
NM_000553.6(WRN):c.3763C>G (p.Leu1255Val)
NM_000553.6(WRN):c.3766T>C (p.Ser1256Pro)
NM_000553.6(WRN):c.3767C>T (p.Ser1256Leu)
NM_000553.6(WRN):c.3769C>G (p.Gln1257Glu)
NM_000553.6(WRN):c.3772T>G (p.Ser1258Ala) rs1803305771
NM_000553.6(WRN):c.3773C>G (p.Ser1258Cys)
NM_000553.6(WRN):c.377T>A (p.Met126Lys) rs1465554767
NM_000553.6(WRN):c.3787T>A (p.Tyr1263Asn) rs2130470549
NM_000553.6(WRN):c.3790T>C (p.Ser1264Pro)
NM_000553.6(WRN):c.3803A>G (p.Glu1268Gly)
NM_000553.6(WRN):c.3814C>G (p.Pro1272Ala) rs776989868
NM_000553.6(WRN):c.3814C>T (p.Pro1272Ser) rs776989868
NM_000553.6(WRN):c.3819+14T>C rs886062894
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000553.6(WRN):c.3819+2dup rs1563385560
NM_000553.6(WRN):c.3819+5G>A rs770289356
NM_000553.6(WRN):c.3820-9T>G
NM_000553.6(WRN):c.3822G>C (p.Lys1274Asn) rs1803425444
NM_000553.6(WRN):c.3825C>G (p.Ser1275Arg)
NM_000553.6(WRN):c.3826A>G (p.Ile1276Val) rs1554536324
NM_000553.6(WRN):c.3828A>G (p.Ile1276Met) rs1585536578
NM_000553.6(WRN):c.3829G>A (p.Ala1277Thr) rs2130480095
NM_000553.6(WRN):c.382C>T (p.Leu128Phe) rs1812635765
NM_000553.6(WRN):c.3830C>T (p.Ala1277Val)
NM_000553.6(WRN):c.3835A>G (p.Ser1279Gly)
NM_000553.6(WRN):c.3848C>T (p.Pro1283Leu)
NM_000553.6(WRN):c.3851T>A (p.Leu1284His) rs2130480275
NM_000553.6(WRN):c.3854T>A (p.Met1285Lys)
NM_000553.6(WRN):c.3856A>G (p.Thr1286Ala) rs2130480368
NM_000553.6(WRN):c.3856A>T (p.Thr1286Ser) rs2130480368
NM_000553.6(WRN):c.3857C>A (p.Thr1286Lys)
NM_000553.6(WRN):c.3857C>T (p.Thr1286Ile) rs1248248259
NM_000553.6(WRN):c.3863G>A (p.Gly1288Asp) rs1803427777
NM_000553.6(WRN):c.3865A>G (p.Met1289Val)
NM_000553.6(WRN):c.3865A>T (p.Met1289Leu) rs1803428016
NM_000553.6(WRN):c.3866T>C (p.Met1289Thr)
NM_000553.6(WRN):c.3867G>A (p.Met1289Ile)
NM_000553.6(WRN):c.3867G>T (p.Met1289Ile)
NM_000553.6(WRN):c.3868C>A (p.His1290Asn) rs1474988209
NM_000553.6(WRN):c.3868C>T (p.His1290Tyr) rs1474988209
NM_000553.6(WRN):c.3875C>G (p.Ser1292Cys) rs142614369
NM_000553.6(WRN):c.3877C>G (p.Gln1293Glu) rs1803429007
NM_000553.6(WRN):c.3880G>A (p.Ala1294Thr) rs1554536365
NM_000553.6(WRN):c.3887A>C (p.Lys1296Thr)
NM_000553.6(WRN):c.3890C>T (p.Ala1297Val) rs1434549591
NM_000553.6(WRN):c.3892G>C (p.Gly1298Arg)
NM_000553.6(WRN):c.3897C>G (p.Cys1299Trp) rs773822420
NM_000553.6(WRN):c.3898C>T (p.Pro1300Ser) rs2130480825
NM_000553.6(WRN):c.38G>A (p.Arg13Gln) rs1006884728
NM_000553.6(WRN):c.3901C>T (p.Leu1301Phe)
NM_000553.6(WRN):c.3902T>G (p.Leu1301Arg) rs2130480900
NM_000553.6(WRN):c.3903T>A (p.Leu1301=) rs1803431098
NM_000553.6(WRN):c.3904G>T (p.Asp1302Tyr) rs1563387318
NM_000553.6(WRN):c.3914G>T (p.Arg1305Leu) rs775535952
NM_000553.6(WRN):c.3919G>A (p.Gly1307Ser) rs1563387347
NM_000553.6(WRN):c.3922C>G (p.Leu1308Val) rs2130481130
NM_000553.6(WRN):c.3929C>T (p.Pro1310Leu) rs375176583
NM_000553.6(WRN):c.3931G>A (p.Glu1311Lys)
NM_000553.6(WRN):c.3934G>A (p.Val1312Ile)
NM_000553.6(WRN):c.3934G>T (p.Val1312Phe)
NM_000553.6(WRN):c.3935T>C (p.Val1312Ala) rs1585536796
NM_000553.6(WRN):c.3938A>C (p.Gln1313Pro) rs1803433418
NM_000553.6(WRN):c.3941A>C (p.Lys1314Thr) rs1803433533
NM_000553.6(WRN):c.3946A>G (p.Ile1316Val) rs750389299
NM_000553.6(WRN):c.3947T>C (p.Ile1316Thr)
NM_000553.6(WRN):c.3949G>T (p.Ala1317Ser)
NM_000553.6(WRN):c.3954T>A (p.Asp1318Glu)
NM_000553.6(WRN):c.3955G>A (p.Val1319Ile) rs2130481374
NM_000553.6(WRN):c.3959T>A (p.Ile1320Asn)
NM_000553.6(WRN):c.3962G>C (p.Arg1321Pro)
NM_000553.6(WRN):c.3967C>A (p.Pro1323Thr)
NM_000553.6(WRN):c.3968C>G (p.Pro1323Arg)
NM_000553.6(WRN):c.3972C>T (p.Pro1324=) rs370253199
NM_000553.6(WRN):c.3974T>A (p.Val1325Asp) rs2130481555
NM_000553.6(WRN):c.3980C>T (p.Ser1327Leu)
NM_000553.6(WRN):c.3982+6A>G rs1803436301
NM_000553.6(WRN):c.3982+6A>T rs1803436301
NM_000553.6(WRN):c.3983-15_3983-12del
NM_000553.6(WRN):c.3983-3C>A
NM_000553.6(WRN):c.3983-6T>G
NM_000553.6(WRN):c.3986T>A (p.Met1329Lys)
NM_000553.6(WRN):c.3988A>C (p.Ser1330Arg) rs1803910656
NM_000553.6(WRN):c.4004T>G (p.Ile1335Ser) rs2130514189
NM_000553.6(WRN):c.4007G>A (p.Arg1336Lys) rs1199403170
NM_000553.6(WRN):c.4007G>T (p.Arg1336Ile)
NM_000553.6(WRN):c.4009A>G (p.Met1337Val) rs2130514224
NM_000553.6(WRN):c.4010T>C (p.Met1337Thr)
NM_000553.6(WRN):c.4011G>A (p.Met1337Ile) rs544317387
NM_000553.6(WRN):c.4011G>C (p.Met1337Ile) rs544317387
NM_000553.6(WRN):c.4013T>C (p.Leu1338Ser) rs2130514267
NM_000553.6(WRN):c.4015G>T (p.Val1339Phe)
NM_000553.6(WRN):c.4019C>T (p.Pro1340Leu)
NM_000553.6(WRN):c.4030G>A (p.Asp1344Asn) rs1554538565
NM_000553.6(WRN):c.4033A>C (p.Thr1345Pro)
NM_000553.6(WRN):c.4033A>G (p.Thr1345Ala) rs774438611
NM_000553.6(WRN):c.4034C>T (p.Thr1345Met) rs759390217
NM_000553.6(WRN):c.4042A>G (p.Ile1348Val) rs374028957
NM_000553.6(WRN):c.4043T>C (p.Ile1348Thr)
NM_000553.6(WRN):c.4044C>G (p.Ile1348Met) rs763768734
NM_000553.6(WRN):c.404A>C (p.Lys135Thr) rs1563329896
NM_000553.6(WRN):c.404A>G (p.Lys135Arg) rs1563329896
NM_000553.6(WRN):c.4050G>T (p.Met1350Ile)
NM_000553.6(WRN):c.4051G>A (p.Ala1351Thr) rs587778752
NM_000553.6(WRN):c.4055T>A (p.Ile1352Asn) rs1060500065
NM_000553.6(WRN):c.4055T>C (p.Ile1352Thr) rs1060500065
NM_000553.6(WRN):c.4055T>G (p.Ile1352Ser) rs1060500065
NM_000553.6(WRN):c.405G>C (p.Lys135Asn) rs2130036348
NM_000553.6(WRN):c.4063C>T (p.Leu1355Phe) rs757631368
NM_000553.6(WRN):c.4073G>A (p.Gly1358Asp) rs1465807315
NM_000553.6(WRN):c.4075C>A (p.Pro1359Thr) rs1803921475
NM_000553.6(WRN):c.407C>G (p.Ala136Gly)
NM_000553.6(WRN):c.4081A>G (p.Ser1361Gly)
NM_000553.6(WRN):c.4081del (p.Ser1361fs) rs1803921888
NM_000553.6(WRN):c.4092A>C (p.Gln1364His) rs1432031007
NM_000553.6(WRN):c.4099_4100delinsCC (p.Cys1367Pro) rs1563393557
NM_000553.6(WRN):c.4099_4100inv (p.Cys1367His)
NM_000553.6(WRN):c.4103A>T (p.Asp1368Val)
NM_000553.6(WRN):c.410G>C (p.Gly137Ala) rs1194837779
NM_000553.6(WRN):c.4111A>C (p.Lys1371Gln)
NM_000553.6(WRN):c.4111A>G (p.Lys1371Glu) rs774007667
NM_000553.6(WRN):c.4113_4114dup (p.Arg1372fs)
NM_000553.6(WRN):c.4114A>G (p.Arg1372Gly) rs1353846692
NM_000553.6(WRN):c.4114del (p.Arg1372fs) rs772047427
NM_000553.6(WRN):c.4116G>C (p.Arg1372Ser) rs1585550128
NM_000553.6(WRN):c.4116_4118del (p.Arg1373del) rs1803926590
NM_000553.6(WRN):c.4119A>T (p.Arg1373Ser)
NM_000553.6(WRN):c.4126C>T (p.Pro1376Ser) rs1554538654
NM_000553.6(WRN):c.4128del (p.Gly1377fs) rs766643585
NM_000553.6(WRN):c.4129G>T (p.Gly1377Cys) rs760127655
NM_000553.6(WRN):c.412G>A (p.Val138Ile)
NM_000553.6(WRN):c.4133C>T (p.Ser1378Phe) rs2130515172
NM_000553.6(WRN):c.4140G>T (p.Glu1380Asp) rs776270050
NM_000553.6(WRN):c.4143C>G (p.Ile1381Met)
NM_000553.6(WRN):c.4148C>A (p.Ser1383Ter) rs1060500080
NM_000553.6(WRN):c.4151G>C (p.Ser1384Thr)
NM_000553.6(WRN):c.4154C>A (p.Ser1385Tyr) rs993954914
NM_000553.6(WRN):c.4156A>G (p.Lys1386Glu)
NM_000553.6(WRN):c.4166A>C (p.Lys1389Thr) rs1803931913
NM_000553.6(WRN):c.4168G>A (p.Glu1390Lys)
NM_000553.6(WRN):c.4172A>C (p.Glu1391Ala) rs1426646860
NM_000553.6(WRN):c.4177G>A (p.Gly1393Ser) rs1803933445
NM_000553.6(WRN):c.4178G>A (p.Gly1393Asp) rs186424616
NM_000553.6(WRN):c.4178G>C (p.Gly1393Ala) rs186424616
NM_000553.6(WRN):c.4179C>T (p.Gly1393=) rs2130515498
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) rs545431480
NM_000553.6(WRN):c.4183A>G (p.Asn1395Asp) rs1585550300
NM_000553.6(WRN):c.4186A>T (p.Thr1396Ser)
NM_000553.6(WRN):c.418A>G (p.Ile140Val)
NM_000553.6(WRN):c.4191G>T (p.Glu1397Asp)
NM_000553.6(WRN):c.4192-2A>T rs760110948
NM_000553.6(WRN):c.4192-3C>A rs1311481126
NM_000553.6(WRN):c.4192-3C>T rs1311481126
NM_000553.6(WRN):c.4192A>G (p.Thr1398Ala)
NM_000553.6(WRN):c.4196C>T (p.Ser1399Leu)
NM_000553.6(WRN):c.4198T>G (p.Ser1400Ala)
NM_000553.6(WRN):c.419T>C (p.Ile140Thr) rs1812637187
NM_000553.6(WRN):c.4201G>A (p.Ala1401Thr)
NM_000553.6(WRN):c.4208G>T (p.Arg1403Ile)
NM_000553.6(WRN):c.4210_4213del (p.Lys1404fs) rs2130530010
NM_000553.6(WRN):c.4210_4215del (p.Lys1404_Arg1405del) rs1307086896
NM_000553.6(WRN):c.4217G>C (p.Arg1406Pro) rs758132889
NM_000553.6(WRN):c.4217_4222del (p.Arg1406_Leu1407del) rs2130530065
NM_000553.6(WRN):c.4225G>A (p.Val1409Met) rs1563396721
NM_000553.6(WRN):c.4226T>C (p.Val1409Ala)
NM_000553.6(WRN):c.4226T>G (p.Val1409Gly)
NM_000553.6(WRN):c.4231T>C (p.Phe1411Leu) rs1554539890
NM_000553.6(WRN):c.4240G>A (p.Gly1414Arg) rs747685773
NM_000553.6(WRN):c.4244G>A (p.Ser1415Asn)
NM_000553.6(WRN):c.4250C>A (p.Thr1417Asn) rs1804163340
NM_000553.6(WRN):c.4250C>G (p.Thr1417Ser)
NM_000553.6(WRN):c.4256A>G (p.Lys1419Arg) rs771261660
NM_000553.6(WRN):c.4271A>G (p.Lys1424Arg)
NM_000553.6(WRN):c.427G>A (p.Asp143Asn) rs1060500063
NM_000553.6(WRN):c.427G>C (p.Asp143His)
NM_000553.6(WRN):c.427G>T (p.Asp143Tyr) rs1060500063
NM_000553.6(WRN):c.4280G>A (p.Arg1427Lys) rs61751045
NM_000553.6(WRN):c.4281G>T (p.Arg1427Ser) rs1804164636
NM_000553.6(WRN):c.4282G>A (p.Gly1428Arg) rs2130530546
NM_000553.6(WRN):c.4284_4292del (p.Gly1429_Phe1431del)
NM_000553.6(WRN):c.4284del (p.Gly1429fs) rs2130530564
NM_000553.6(WRN):c.4285G>A (p.Gly1429Ser)
NM_000553.6(WRN):c.4286G>A (p.Gly1429Asp) rs1471724942
NM_000553.6(WRN):c.4288C>G (p.Leu1430Val)
NM_000553.6(WRN):c.4292T>C (p.Phe1431Ser)
NM_000553.6(WRN):c.4293T>G (p.Phe1431Leu)
NM_000553.6(WRN):c.4294A>G (p.Ser1432Gly) rs1804165240
NM_000553.6(WRN):c.431A>G (p.Gln144Arg) rs771444804
NM_000553.6(WRN):c.433T>G (p.Trp145Gly) rs1812638278
NM_000553.6(WRN):c.436A>C (p.Lys146Gln) rs752014453
NM_000553.6(WRN):c.437A>G (p.Lys146Arg)
NM_000553.6(WRN):c.43T>A (p.Cys15Ser) rs1812360431
NM_000553.6(WRN):c.443T>C (p.Leu148Pro) rs587778753
NM_000553.6(WRN):c.443_445del (p.Leu148del) rs1812639130
NM_000553.6(WRN):c.445C>G (p.Arg149Gly) rs752693894
NM_000553.6(WRN):c.446G>C (p.Arg149Pro) rs61761625
NM_000553.6(WRN):c.448G>T (p.Asp150Tyr)
NM_000553.6(WRN):c.461A>T (p.Lys154Ile) rs2130037105
NM_000553.6(WRN):c.464T>G (p.Leu155Trp) rs1585409238
NM_000553.6(WRN):c.466A>C (p.Lys156Gln) rs758208189
NM_000553.6(WRN):c.466A>G (p.Lys156Glu)
NM_000553.6(WRN):c.469A>G (p.Asn157Asp) rs2130037190
NM_000553.6(WRN):c.471T>G (p.Asn157Lys) rs1812640873
NM_000553.6(WRN):c.47C>T (p.Pro16Leu) rs1273920483
NM_000553.6(WRN):c.483G>C (p.Leu161Phe) rs2130037315
NM_000553.6(WRN):c.487G>C (p.Asp163His) rs368717487
NM_000553.6(WRN):c.488A>C (p.Asp163Ala) rs769495252
NM_000553.6(WRN):c.488A>T (p.Asp163Val) rs769495252
NM_000553.6(WRN):c.490G>A (p.Val164Ile)
NM_000553.6(WRN):c.499A>G (p.Lys167Glu) rs749679346
NM_000553.6(WRN):c.504+3A>G rs1585409315
NM_000553.6(WRN):c.506T>A (p.Leu169Gln) rs1812732644
NM_000553.6(WRN):c.506T>C (p.Leu169Pro)
NM_000553.6(WRN):c.508A>G (p.Lys170Glu) rs2130048823
NM_000553.6(WRN):c.511T>C (p.Cys171Arg)
NM_000553.6(WRN):c.511T>G (p.Cys171Gly) rs1812732898
NM_000553.6(WRN):c.512G>A (p.Cys171Tyr)
NM_000553.6(WRN):c.513_514delinsTT (p.Thr172Ser) rs1554519257
NM_000553.6(WRN):c.515C>T (p.Thr172Ile) rs777437332
NM_000553.6(WRN):c.520A>T (p.Thr174Ser) rs1585411657
NM_000553.6(WRN):c.523T>C (p.Trp175Arg) rs1554519269
NM_000553.6(WRN):c.523T>G (p.Trp175Gly) rs1554519269
NM_000553.6(WRN):c.525G>C (p.Trp175Cys)
NM_000553.6(WRN):c.527G>A (p.Ser176Asn)
NM_000553.6(WRN):c.528C>A (p.Ser176Arg) rs1554519273
NM_000553.6(WRN):c.532A>G (p.Asn178Asp) rs1812735120
NM_000553.6(WRN):c.533A>G (p.Asn178Ser)
NM_000553.6(WRN):c.534C>G (p.Asn178Lys) rs2130049265
NM_000553.6(WRN):c.536G>A (p.Ser179Asn) rs770545798
NM_000553.6(WRN):c.539T>C (p.Leu180Pro) rs1812735428
NM_000553.6(WRN):c.541G>A (p.Val181Ile) rs1812735533
NM_000553.6(WRN):c.545A>G (p.Lys182Arg) rs2130049458
NM_000553.6(WRN):c.548A>C (p.His183Pro) rs746210769
NM_000553.6(WRN):c.549C>A (p.His183Gln)
NM_000553.6(WRN):c.549C>G (p.His183Gln) rs772637078
NM_000553.6(WRN):c.550C>T (p.Leu184Phe)
NM_000553.6(WRN):c.551T>G (p.Leu184Arg) rs1812736168
NM_000553.6(WRN):c.552C>T (p.Leu184=)
NM_000553.6(WRN):c.555A>T (p.Leu185Phe)
NM_000553.6(WRN):c.556G>A (p.Gly186Ser)
NM_000553.6(WRN):c.557G>A (p.Gly186Asp)
NM_000553.6(WRN):c.559A>G (p.Lys187Glu)
NM_000553.6(WRN):c.560A>G (p.Lys187Arg) rs1394474527
NM_000553.6(WRN):c.562C>G (p.Gln188Glu) rs1812736560
NM_000553.6(WRN):c.569T>C (p.Leu190Pro)
NM_000553.6(WRN):c.571A>C (p.Lys191Gln) rs1812737120
NM_000553.6(WRN):c.572A>C (p.Lys191Thr)
NM_000553.6(WRN):c.573_575del (p.Lys191_Asp192delinsAsn) rs1288535419
NM_000553.6(WRN):c.575A>G (p.Asp192Gly)
NM_000553.6(WRN):c.581C>T (p.Ser194Phe)
NM_000553.6(WRN):c.585C>G (p.Ile195Met) rs927350912
NM_000553.6(WRN):c.587G>C (p.Arg196Pro)
NM_000553.6(WRN):c.587G>T (p.Arg196Leu) rs561603992
NM_000553.6(WRN):c.589T>A (p.Cys197Ser)
NM_000553.6(WRN):c.590G>A (p.Cys197Tyr) rs1812738619
NM_000553.6(WRN):c.590G>C (p.Cys197Ser) rs1812738619
NM_000553.6(WRN):c.594C>G (p.Ser198Arg)
NM_000553.6(WRN):c.596A>G (p.Asn199Ser) rs1812738746
NM_000553.6(WRN):c.599G>T (p.Trp200Leu)
NM_000553.6(WRN):c.59A>G (p.Asn20Ser) rs1554518179
NM_000553.6(WRN):c.59A>T (p.Asn20Ile) rs1554518179
NM_000553.6(WRN):c.605A>T (p.Lys202Ile) rs1205560435
NM_000553.6(WRN):c.609T>G (p.Phe203Leu)
NM_000553.6(WRN):c.60T>G (p.Asn20Lys) rs1368830510
NM_000553.6(WRN):c.611C>G (p.Pro204Arg) rs1563331362
NM_000553.6(WRN):c.611C>T (p.Pro204Leu) rs1563331362
NM_000553.6(WRN):c.622G>C (p.Asp208His) rs2130050397
NM_000553.6(WRN):c.628A>C (p.Lys210Gln) rs138037385
NM_000553.6(WRN):c.631C>G (p.Leu211Val) rs980659335
NM_000553.6(WRN):c.650C>T (p.Ala217Val) rs1812741778
NM_000553.6(WRN):c.652T>C (p.Tyr218His)
NM_000553.6(WRN):c.653A>G (p.Tyr218Cys) rs780640173
NM_000553.6(WRN):c.653A>T (p.Tyr218Phe) rs780640173
NM_000553.6(WRN):c.654+15A>G
NM_000553.6(WRN):c.654+5G>T rs776917867
NM_000553.6(WRN):c.655G>T (p.Ala219Ser)
NM_000553.6(WRN):c.659G>T (p.Gly220Val)
NM_000553.6(WRN):c.664ATT[1] (p.Ile223del) rs2130056327
NM_000553.6(WRN):c.667A>G (p.Ile223Val) rs587778754
NM_000553.6(WRN):c.66G>T (p.Gln22His) rs1812361355
NM_000553.6(WRN):c.670T>A (p.Tyr224Asn) rs1554519439
NM_000553.6(WRN):c.671A>G (p.Tyr224Cys) rs1585413126
NM_000553.6(WRN):c.674G>T (p.Arg225Leu) rs62506077
NM_000553.6(WRN):c.677A>T (p.Asn226Ile)
NM_000553.6(WRN):c.683A>G (p.Glu228Gly) rs1812784964
NM_000553.6(WRN):c.684G>T (p.Glu228Asp) rs1415117984
NM_000553.6(WRN):c.685A>G (p.Ile229Val) rs1554519444
NM_000553.6(WRN):c.690G>A (p.Leu230=)
NM_000553.6(WRN):c.690G>T (p.Leu230Phe) rs2130056605
NM_000553.6(WRN):c.698C>T (p.Thr233Ile) rs1554519446
NM_000553.6(WRN):c.69T>A (p.Asn23Lys) rs2130001206
NM_000553.6(WRN):c.6T>G (p.Ser2Arg) rs2130000474
NM_000553.6(WRN):c.700G>A (p.Val234Met) rs769291583
NM_000553.6(WRN):c.703C>G (p.Gln235Glu) rs2130056690
NM_000553.6(WRN):c.705A>G (p.Gln235=) rs2130056709
NM_000553.6(WRN):c.707G>C (p.Arg236Thr)
NM_000553.6(WRN):c.708G>T (p.Arg236Ser)
NM_000553.6(WRN):c.712G>C (p.Ala238Pro) rs1585413180
NM_000553.6(WRN):c.714_716del (p.Ile239del)
NM_000553.6(WRN):c.715A>G (p.Ile239Val) rs781741859
NM_000553.6(WRN):c.717A>G (p.Ile239Met)
NM_000553.6(WRN):c.71A>G (p.Lys24Arg) rs1357571487
NM_000553.6(WRN):c.721A>G (p.Lys241Glu) rs1812786248
NM_000553.6(WRN):c.723A>C (p.Lys241Asn)
NM_000553.6(WRN):c.724+3A>G rs1563332030
NM_000553.6(WRN):c.724+5G>A rs2130056926
NM_000553.6(WRN):c.724G>A (p.Glu242Lys)
NM_000553.6(WRN):c.724G>C (p.Glu242Gln) rs769959338
NM_000553.6(WRN):c.725-6C>T rs1554520258
NM_000553.6(WRN):c.725-7C>G rs2130094327
NM_000553.6(WRN):c.725A>C (p.Glu242Ala)
NM_000553.6(WRN):c.731A>G (p.Glu244Gly) rs2130094422
NM_000553.6(WRN):c.739C>A (p.Leu247Ile)
NM_000553.6(WRN):c.742A>G (p.Ser248Gly) rs1060500076
NM_000553.6(WRN):c.745G>T (p.Asp249Tyr) rs758055295
NM_000553.6(WRN):c.750G>T (p.Met250Ile)
NM_000553.6(WRN):c.754A>G (p.Lys252Glu) rs751986285
NM_000553.6(WRN):c.758A>G (p.Gln253Arg) rs2130094725
NM_000553.6(WRN):c.763A>G (p.Thr255Ala) rs1813087969
NM_000553.6(WRN):c.764C>G (p.Thr255Ser)
NM_000553.6(WRN):c.769A>G (p.Ile257Val) rs886044530
NM_000553.6(WRN):c.770T>C (p.Ile257Thr)
NM_000553.6(WRN):c.773C>T (p.Ser258Phe) rs2130094798
NM_000553.6(WRN):c.779A>G (p.Glu260Gly)
NM_000553.6(WRN):c.779_780insCTT (p.Glu260delinsAspLeu)
NM_000553.6(WRN):c.784A>G (p.Met262Val)
NM_000553.6(WRN):c.787G>C (p.Asp263His)
NM_000553.6(WRN):c.787G>T (p.Asp263Tyr) rs1813088802
NM_000553.6(WRN):c.788A>G (p.Asp263Gly) rs1813088906
NM_000553.6(WRN):c.791T>C (p.Leu264Pro) rs1585421771
NM_000553.6(WRN):c.793G>T (p.Ala265Ser) rs2130095011
NM_000553.6(WRN):c.796A>G (p.Lys266Glu)
NM_000553.6(WRN):c.79G>A (p.Ala27Thr) rs778355874
NM_000553.6(WRN):c.802C>A (p.Leu268Ile)
NM_000553.6(WRN):c.803_808dup (p.Leu268_Pro269dup) rs1431238343
NM_000553.6(WRN):c.809A>C (p.His270Pro) rs777770937
NM_000553.6(WRN):c.809A>G (p.His270Arg)
NM_000553.6(WRN):c.809A>T (p.His270Leu) rs777770937
NM_000553.6(WRN):c.812C>G (p.Ala271Gly) rs1813090020
NM_000553.6(WRN):c.812C>T (p.Ala271Val) rs1813090020
NM_000553.6(WRN):c.820A>G (p.Lys274Glu) rs2130095226
NM_000553.6(WRN):c.822A>G (p.Lys274=) rs1585421803
NM_000553.6(WRN):c.82G>A (p.Val28Ile) rs538314935
NM_000553.6(WRN):c.82G>C (p.Val28Leu) rs538314935
NM_000553.6(WRN):c.833C>T (p.Pro278Leu) rs2130095313
NM_000553.6(WRN):c.834_835delinsTT (p.Arg279Trp) rs1554520281
NM_000553.6(WRN):c.836G>C (p.Arg279Pro) rs768400363
NM_000553.6(WRN):c.838A>G (p.Arg280Gly)
NM_000553.6(WRN):c.839+11del rs886062886
NM_000553.6(WRN):c.839+25dup rs370040831
NM_000553.6(WRN):c.839G>T (p.Arg280Met) rs761786255
NM_000553.6(WRN):c.83T>C (p.Val28Ala)
NM_000553.6(WRN):c.840-3_840-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTTAATTTTTTTTTT
NM_000553.6(WRN):c.840G>C (p.Arg280Ser) rs1408343355
NM_000553.6(WRN):c.840G>T (p.Arg280Ser)
NM_000553.6(WRN):c.841G>A (p.Val281Ile) rs1060500055
NM_000553.6(WRN):c.841G>T (p.Val281Phe) rs1060500055
NM_000553.6(WRN):c.845C>A (p.Ser282Tyr)
NM_000553.6(WRN):c.847A>C (p.Ile283Leu) rs201643901
NM_000553.6(WRN):c.847A>T (p.Ile283Phe) rs201643901
NM_000553.6(WRN):c.859G>A (p.Asp287Asn) rs1813276206
NM_000553.6(WRN):c.862A>G (p.Ile288Val)
NM_000553.6(WRN):c.86A>G (p.Glu29Gly)
NM_000553.6(WRN):c.871A>G (p.Asn291Asp)
NM_000553.6(WRN):c.875T>C (p.Leu292Pro) rs1462123320
NM_000553.6(WRN):c.877T>C (p.Tyr293His)
NM_000553.6(WRN):c.884_885delinsAT (p.Leu295His) rs1813277416
NM_000553.6(WRN):c.889A>G (p.Arg297Gly)
NM_000553.6(WRN):c.890G>T (p.Arg297Met) rs1442789662
NM_000553.6(WRN):c.892A>G (p.Met298Val)
NM_000553.6(WRN):c.893T>C (p.Met298Thr) rs753112277
NM_000553.6(WRN):c.895A>G (p.Ile299Val) rs1813277773
NM_000553.6(WRN):c.899T>C (p.Ile300Thr) rs1813277885
NM_000553.6(WRN):c.902G>C (p.Gly301Ala) rs1563338580
NM_000553.6(WRN):c.908C>G (p.Thr303Ser) rs1813278615
NM_000553.6(WRN):c.914T>C (p.Ile305Thr) rs1813279085
NM_000553.6(WRN):c.918G>C (p.Glu306Asp)
NM_000553.6(WRN):c.920C>A (p.Thr307Asn)
NM_000553.6(WRN):c.926T>C (p.Leu309Pro) rs1813279492
NM_000553.6(WRN):c.926T>G (p.Leu309Arg)
NM_000553.6(WRN):c.92G>A (p.Arg31Lys) rs1812362679
NM_000553.6(WRN):c.92G>T (p.Arg31Ile) rs1812362679
NM_000553.6(WRN):c.932C>T (p.Pro311Leu)
NM_000553.6(WRN):c.934A>G (p.Ser312Gly) rs1813279974
NM_000553.6(WRN):c.935G>A (p.Ser312Asn)
NM_000553.6(WRN):c.936C>G (p.Ser312Arg) rs1813280266
NM_000553.6(WRN):c.943T>G (p.Leu315Val) rs2130118136
NM_000553.6(WRN):c.94A>G (p.Lys32Glu)
NM_000553.6(WRN):c.950TAT[1] (p.Leu318del) rs771474603
NM_000553.6(WRN):c.955T>C (p.Ser319Pro)
NM_000553.6(WRN):c.956C>T (p.Ser319Phe) rs1001988186
NM_000553.6(WRN):c.959T>C (p.Phe320Ser) rs2130118297
NM_000553.6(WRN):c.96+3A>G rs1812363250
NM_000553.6(WRN):c.96+6T>A rs770866944
NM_000553.6(WRN):c.962A>G (p.Glu321Gly) rs1813282417
NM_000553.6(WRN):c.965A>G (p.Asp322Gly) rs1813282566
NM_000553.6(WRN):c.967T>A (p.Ser323Thr)
NM_000553.6(WRN):c.96G>C (p.Lys32Asn) rs2130001536
NM_000553.6(WRN):c.97-10T>G rs754646679
NM_000553.6(WRN):c.97-14T>C
NM_000553.6(WRN):c.97-16A>G
NM_000553.6(WRN):c.97-2del rs2130004612
NM_000553.6(WRN):c.97-4C>T
NM_000553.6(WRN):c.97-7A>G rs1812385947
NM_000553.6(WRN):c.97-8A>T
NM_000553.6(WRN):c.971C>T (p.Thr324Ile)
NM_000553.6(WRN):c.973A>T (p.Thr325Ser) rs1585427688
NM_000553.6(WRN):c.974C>G (p.Thr325Ser)
NM_000553.6(WRN):c.979G>A (p.Gly327Arg) rs1813283817
NM_000553.6(WRN):c.97G>A (p.Ala33Thr) rs2130004641
NM_000553.6(WRN):c.982G>A (p.Val328Ile) rs1813284266
NM_000553.6(WRN):c.986A>G (p.Gln329Arg) rs4987237
NM_000553.6(WRN):c.994C>G (p.Gln332Glu)
NM_000553.6(WRN):c.997A>G (p.Ile333Val) rs2130118767
NM_000553.6(WRN):c.99A>G (p.Ala33=) rs753114305
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.29A>G (p.His10Arg) rs754630141
NM_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_000751.3(CHRND):c.*144_*145insAG rs530814490
NM_000751.3(CHRND):c.*623_*627dup rs886055785
NM_000760.4(CSF3R):c.1018A>G (p.Thr340Ala) rs1650787609
NM_000760.4(CSF3R):c.1037A>C (p.Gln346Pro) rs3917974
NM_000760.4(CSF3R):c.1044C>A (p.Asp348Glu) rs766845092
NM_000760.4(CSF3R):c.1071+1_1071+5dup rs770568094
NM_000760.4(CSF3R):c.1072-10T>C rs1557592278
NM_000760.4(CSF3R):c.1072-3C>T
NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser) rs751225562
NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg)
NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp)
NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr) rs1650741888
NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu)
NM_000760.4(CSF3R):c.1129C>T (p.Pro377Ser)
NM_000760.4(CSF3R):c.1140G>C (p.Gln380His)
NM_000760.4(CSF3R):c.1144G>A (p.Gly382Arg)
NM_000760.4(CSF3R):c.1156C>T (p.Pro386Ser) rs1650737288
NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) rs1163985254
NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg)
NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe)
NM_000760.4(CSF3R):c.1249T>A (p.Ser417Thr)
NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His)
NM_000760.4(CSF3R):c.1258A>G (p.Thr420Ala)
NM_000760.4(CSF3R):c.1266G>A (p.Val422=) rs746450541
NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu)
NM_000760.4(CSF3R):c.1285+3A>G
NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser) rs1650719908
NM_000760.4(CSF3R):c.1292C>T (p.Ala431Val)
NM_000760.4(CSF3R):c.1297A>T (p.Thr433Ser)
NM_000760.4(CSF3R):c.1307A>T (p.His436Leu) rs749559806
NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser) rs1260196968
NM_000760.4(CSF3R):c.1346G>T (p.Trp449Leu)
NM_000760.4(CSF3R):c.1348G>A (p.Glu450Lys) rs766441662
NM_000760.4(CSF3R):c.1348_1349delinsAT (p.Glu450Met)
NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) rs139862991
NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu)
NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg) rs2124111042
NM_000760.4(CSF3R):c.137_138delinsTT (p.Cys46Phe)
NM_000760.4(CSF3R):c.1384G>C (p.Glu462Gln)
NM_000760.4(CSF3R):c.1399C>A (p.Pro467Thr)
NM_000760.4(CSF3R):c.1399C>G (p.Pro467Ala) rs538923210
NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser) rs538923210
NM_000760.4(CSF3R):c.1406G>T (p.Ser469Ile)
NM_000760.4(CSF3R):c.1412_1413delinsAA (p.Ser471Lys) rs2124110365
NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg) rs879052375
NM_000760.4(CSF3R):c.1474+3G>A rs2124109417
NM_000760.4(CSF3R):c.1475-3C>A
NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala)
NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp)
NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala) rs2124107417
NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys)
NM_000760.4(CSF3R):c.1558_1559delinsAA (p.Ala520Asn)
NM_000760.4(CSF3R):c.1569A>T (p.Gln523His)
NM_000760.4(CSF3R):c.1575G>A (p.Met525Ile)
NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn) rs1196522809
NM_000760.4(CSF3R):c.160C>G (p.His54Asp) rs371768579
NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) rs375571657
NM_000760.4(CSF3R):c.1630C>G (p.Gln544Glu)
NM_000760.4(CSF3R):c.1646C>A (p.Pro549His) rs1650466012
NM_000760.4(CSF3R):c.1667A>G (p.Lys556Arg)
NM_000760.4(CSF3R):c.1670G>A (p.Ser557Asn)
NM_000760.4(CSF3R):c.1672C>T (p.Pro558Ser)
NM_000760.4(CSF3R):c.1681C>G (p.His561Asp) rs1198283969
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
NM_000760.4(CSF3R):c.1724-6T>G rs1217235164
NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp)
NM_000760.4(CSF3R):c.1765G>A (p.Gly589Ser)
NM_000760.4(CSF3R):c.1771G>A (p.Glu591Lys)
NM_000760.4(CSF3R):c.1772A>C (p.Glu591Ala)
NM_000760.4(CSF3R):c.1777G>A (p.Ala593Thr)
NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) rs1557587773
NM_000760.4(CSF3R):c.1793T>C (p.Ile598Thr)
NM_000760.4(CSF3R):c.1807G>T (p.Ala603Ser)
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) rs764132853
NM_000760.4(CSF3R):c.1864+7G>T rs1375923168
NM_000760.4(CSF3R):c.1865-19G>A
NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn) rs1334552669
NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu)
NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr)
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
NM_000760.4(CSF3R):c.1959-4C>G
NM_000760.4(CSF3R):c.2029A>G (p.Ile677Val)
NM_000760.4(CSF3R):c.2038G>A (p.Glu680Lys)
NM_000760.4(CSF3R):c.2039_2040del (p.Glu680fs) rs1420932797
NM_000760.4(CSF3R):c.203A>G (p.Glu68Gly) rs2124136821
NM_000760.4(CSF3R):c.2040+4A>G
NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)
NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)
NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)
NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) rs370491074
NM_000760.4(CSF3R):c.214G>A (p.Gly72Arg) rs375879178
NM_000760.4(CSF3R):c.214G>T (p.Gly72Trp) rs375879178
NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)
NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)
NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala) rs2124096799
NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser)
NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)
NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)
NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe) rs1296151274
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)
NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys) rs1436771935
NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg) rs2124096083
NM_000760.4(CSF3R):c.229C>T (p.Arg77Cys) rs2124136605
NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys)
NM_000760.4(CSF3R):c.2306G>A (p.Arg769His)
NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu)
NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)
NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) rs1183274433
NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr) rs1207837094
NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr) rs927190839
NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg)
NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)
NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly)
NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)
NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)
NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
NM_000760.4(CSF3R):c.2483A>G (p.His828Arg) rs1272584212
NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys) rs2124095140
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
NM_000760.4(CSF3R):c.263C>A (p.Thr88Asn)
NM_000760.4(CSF3R):c.263C>T (p.Thr88Ile)
NM_000760.4(CSF3R):c.274C>G (p.Leu92Val) rs1434762753
NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe)
NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del) rs1463924000
NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile)
NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) rs750132507
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro) rs1290014200
NM_000760.4(CSF3R):c.344T>G (p.Val115Gly) rs139022075
NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser)
NM_000760.4(CSF3R):c.362-27_362-18del
NM_000760.4(CSF3R):c.381C>A (p.His127Gln) rs1348822018
NM_000760.4(CSF3R):c.425G>T (p.Cys142Phe) rs2124129472
NM_000760.4(CSF3R):c.429G>T (p.Gln143His) rs766974881
NM_000760.4(CSF3R):c.445G>A (p.Glu149Lys) rs2124129371
NM_000760.4(CSF3R):c.463A>G (p.Ser155Gly)
NM_000760.4(CSF3R):c.464G>C (p.Ser155Thr)
NM_000760.4(CSF3R):c.484A>C (p.Lys162Gln)
NM_000760.4(CSF3R):c.485+6G>C
NM_000760.4(CSF3R):c.486-5G>A
NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser) rs1650924939
NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser)
NM_000760.4(CSF3R):c.532G>A (p.Val178Met) rs186379741
NM_000760.4(CSF3R):c.538A>C (p.Lys180Gln) rs1557595050
NM_000760.4(CSF3R):c.544G>A (p.Gly182Arg)
NM_000760.4(CSF3R):c.555C>G (p.His185Gln)
NM_000760.4(CSF3R):c.559T>G (p.Cys187Gly)
NM_000760.4(CSF3R):c.569G>A (p.Arg190His)
NM_000760.4(CSF3R):c.576C>A (p.His192Gln)
NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro)
NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly)
NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr)
NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu)
NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala) rs2124152542
NM_000760.4(CSF3R):c.634A>G (p.Ser212Gly)
NM_000760.4(CSF3R):c.64+3G>A
NM_000760.4(CSF3R):c.664A>G (p.Met222Val) rs1650909656
NM_000760.4(CSF3R):c.665T>C (p.Met222Thr)
NM_000760.4(CSF3R):c.673+4G>A
NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser)
NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu)
NM_000760.4(CSF3R):c.693G>A (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.693G>T (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.697C>T (p.Arg233Trp)
NM_000760.4(CSF3R):c.705G>A (p.Met235Ile)
NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn)
NM_000760.4(CSF3R):c.734A>T (p.Gln245Leu)
NM_000760.4(CSF3R):c.739G>C (p.Gly247Arg) rs1216927796
NM_000760.4(CSF3R):c.740G>C (p.Gly247Ala)
NM_000760.4(CSF3R):c.757T>G (p.Trp253Gly) rs2124124183
NM_000760.4(CSF3R):c.787A>C (p.Asn263His) rs2124124079
NM_000760.4(CSF3R):c.799G>A (p.Glu267Lys)
NM_000760.4(CSF3R):c.800A>T (p.Glu267Val) rs758364103
NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys) rs2124123972
NM_000760.4(CSF3R):c.806G>A (p.Arg269His)
NM_000760.4(CSF3R):c.815C>A (p.Pro272Gln) rs367774391
NM_000760.4(CSF3R):c.821G>A (p.Arg274His)
NM_000760.4(CSF3R):c.839C>T (p.Ala280Val)
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg)
NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg)
NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu) rs1489427982
NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn) rs201991840
NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) rs201991840
NM_000760.4(CSF3R):c.913C>G (p.Leu305Val)
NM_000760.4(CSF3R):c.931C>T (p.Arg311Cys)
NM_000760.4(CSF3R):c.932G>A (p.Arg311His)
NM_000760.4(CSF3R):c.934T>C (p.Trp312Arg)
NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) rs1426986770
NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys)
NM_000760.4(CSF3R):c.967C>T (p.Pro323Ser) rs1570588198
NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) rs559114400
NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
NM_000782.5(CYP24A1):c.*518A>G rs886056784
NM_000782.5(CYP24A1):c.*549A>T rs2092618847
NM_000782.5(CYP24A1):c.*688GT[7] rs147124541
NM_000782.5(CYP24A1):c.*702GT[5] rs372687331
NM_000782.5(CYP24A1):c.*80A>G rs560443324
NM_000782.5(CYP24A1):c.*838T>G rs886056782
NM_000782.5(CYP24A1):c.-112T>C rs2092703674
NM_000782.5(CYP24A1):c.-17C>T rs886056790
NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu) rs1227845728
NM_000782.5(CYP24A1):c.1254T>C (p.Asn418=) rs2092633894
NM_000782.5(CYP24A1):c.1268G>T (p.Gly423Val) rs2146464297
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu) rs886056786
NM_000782.5(CYP24A1):c.1513C>G (p.Arg505Gly) rs773181675
NM_000782.5(CYP24A1):c.1518A>T (p.Glu506Asp) rs775698372
NM_000782.5(CYP24A1):c.259-5T>C rs372360343
NM_000782.5(CYP24A1):c.295A>G (p.Met99Val) rs886056789
NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu) rs114476330
NM_000782.5(CYP24A1):c.366G>T (p.Glu122Asp)
NM_000782.5(CYP24A1):c.449+2dup rs2092698761
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.833T>C (p.Ile278Thr) rs2092663565
NM_000782.5(CYP24A1):c.861C>A (p.Asp287Glu) rs886056788
NM_000782.5(CYP24A1):c.948G>T (p.Leu316Phe)
NM_000782.5(CYP24A1):c.991-9G>A rs886056787
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) rs759622995
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
NM_000784.4(CYP27A1):c.1017+15_1017+18del rs1679085939
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro) rs2106479125
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn) rs2105980881
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys) rs760471205
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) rs1463950337
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) rs886043798
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) rs139426361
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu) rs2105980922
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp) rs1559384559
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) rs1943764288
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly) rs2105981100
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala) rs755343859
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) rs2106479143
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1263+5G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) rs1039198612
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys) rs2105981257
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp) rs777432192
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val) rs777432192
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu) rs2105981259
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) rs1024898619
NM_000784.4(CYP27A1):c.1477-3C>A rs78938783
NM_000784.4(CYP27A1):c.1477-3C>G rs78938783
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1477-8C>G
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) rs970661282
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) rs1333445399
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) rs144701596
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu) rs2105981476
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly) rs1943775075
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro) rs1191317525
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys) rs1943400890
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) rs2106479175
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) rs753981913
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met) rs374769409
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) rs1441761338
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg) rs531504325
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly) rs1943692342
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr) rs2105979908
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) rs759338714
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) rs59443548
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu) rs200753815
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr) rs2105980154
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) rs1943733556
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys) rs2105980216
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe) rs763461546
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
NM_000784.4(CYP27A1):c.844+4A>G rs1016174396
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
NM_000784.4(CYP27A1):c.844+6G>A rs1943737223
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) rs1417655712
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) rs1275043449
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_000899.5(KITLG):c.2T>A (p.Met1Lys)
NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)
NM_001005920.4(JMJD8):c.*1009T>C rs2151505130
NM_001005920.4(JMJD8):c.*903G>C rs1567281056
NM_001006657.1(WDR35):c.*3299C>T rs1669790644
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001009894.3(RLIG1):c.*995A>C
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009994.3(RIPPLY2):c.40G>A (p.Ala14Thr)
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs) rs756768331
NM_001013693.3(LDLRAD2):c.*1062G>T rs936423705
NM_001013693.3(LDLRAD2):c.*166G>C rs2097953957
NM_001013693.3(LDLRAD2):c.*197C>T rs886046025
NM_001013693.3(LDLRAD2):c.*1998A>T rs2152683273
NM_001013693.3(LDLRAD2):c.*2001C>G rs2152683279
NM_001013693.3(LDLRAD2):c.*2170G>A rs1459647807
NM_001013693.3(LDLRAD2):c.*551T>C rs1347707634
NM_001013693.3(LDLRAD2):c.*702G>T rs2097955662
NM_001013693.3(LDLRAD2):c.*797C>T rs1173808135
NM_001013693.3(LDLRAD2):c.*893C>G rs886046027
NM_001013838.3(CARMIL2):c.1546G>A (p.Val516Met)
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu) rs200219135
NM_001013838.3(CARMIL2):c.1681C>T (p.Arg561Trp)
NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr) rs2142908879
NM_001013838.3(CARMIL2):c.323C>G (p.Ala108Gly)
NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)
NM_001013838.3(CARMIL2):c.3827G>A (p.Arg1276Lys) rs779323055
NM_001013838.3(CARMIL2):c.473T>G (p.Phe158Cys)
NM_001013838.3(CARMIL2):c.745G>A (p.Glu249Lys) rs2052613710
NM_001017420.3(ESCO2):c.*112AC[10] rs56062620
NM_001017420.3(ESCO2):c.*112AC[11] rs56062620
NM_001017420.3(ESCO2):c.*112AC[12] rs56062620
NM_001017420.3(ESCO2):c.*112AC[14] rs56062620
NM_001017420.3(ESCO2):c.*112AC[6] rs56062620
NM_001017420.3(ESCO2):c.*112AC[7] rs56062620
NM_001017420.3(ESCO2):c.*130delinsACACACACACA rs869163244
NM_001017420.3(ESCO2):c.*1397T>A rs1805526154
NM_001017420.3(ESCO2):c.*155T>G rs886062867
NM_001017420.3(ESCO2):c.*266C>T rs1805505685
NM_001017420.3(ESCO2):c.*481dup rs111395487
NM_001017420.3(ESCO2):c.*503GT[1] rs374900624
NM_001017420.3(ESCO2):c.*73_*76del rs533417099
NM_001017420.3(ESCO2):c.*80del rs886062863
NM_001017420.3(ESCO2):c.*982T>C rs886062872
NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del) rs80359859
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=) rs140062105
NM_001017420.3(ESCO2):c.402G>A (p.Lys134=) rs1804800125
NM_001017420.3(ESCO2):c.53+8T>G rs1804771076
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) rs587783624
NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala) rs1804808385
NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly) rs886062859
NM_001017420.3(ESCO2):c.955+10A>G rs1421884058
NM_001017420.3(ESCO2):c.955+7_955+8del rs555057427
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu) rs532987681
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu)
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser)
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln)
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro)
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala)
NM_001023570.4(IQCB1):c.1181T>G (p.Ile394Ser) rs2108543749
NM_001023570.4(IQCB1):c.1184A>T (p.Gln395Leu)
NM_001023570.4(IQCB1):c.1190A>G (p.His397Arg)
NM_001023570.4(IQCB1):c.1210A>G (p.Arg404Gly) rs1354344876
NM_001023570.4(IQCB1):c.1226A>G (p.Gln409Arg) rs368525345
NM_001023570.4(IQCB1):c.1235A>T (p.Gln412Leu) rs199533438
NM_001023570.4(IQCB1):c.1240C>G (p.Leu414Val) rs1948818458
NM_001023570.4(IQCB1):c.1240C>T (p.Leu414Phe) rs1948818458
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) rs777697438
NM_001023570.4(IQCB1):c.1253A>C (p.Lys418Thr)
NM_001023570.4(IQCB1):c.1274G>A (p.Arg425Lys) rs1450149889
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1280C>A (p.Ala427Glu) rs138646990
NM_001023570.4(IQCB1):c.1280C>T (p.Ala427Val) rs138646990
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys)
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=) rs866982675
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln)
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly)
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu)
NM_001023570.4(IQCB1):c.1411-6T>A
NM_001023570.4(IQCB1):c.1418C>T (p.Pro473Leu)
NM_001023570.4(IQCB1):c.142A>G (p.Lys48Glu)
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr) rs2108507338
NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp)
NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser) rs1346401319
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys)
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly)
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn) rs2108507224
NM_001023570.4(IQCB1):c.153A>C (p.Gln51His) rs773874600
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp) rs139468837
NM_001023570.4(IQCB1):c.1567+2_*2del
NM_001023570.4(IQCB1):c.1567+4T>C
NM_001023570.4(IQCB1):c.1573C>T (p.Pro525Ser)
NM_001023570.4(IQCB1):c.1574_1576del (p.Pro525_Ser526delinsArg)
NM_001023570.4(IQCB1):c.1589C>A (p.Ala530Glu) rs2108503429
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.1655C>T (p.Ala552Val)
NM_001023570.4(IQCB1):c.1667C>T (p.Thr556Ile) rs2108503202
NM_001023570.4(IQCB1):c.1675C>G (p.His559Asp) rs1947924234
NM_001023570.4(IQCB1):c.1678A>G (p.Ile560Val)
NM_001023570.4(IQCB1):c.1687C>G (p.Pro563Ala)
NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg) rs767653545
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala) rs749733618
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala)
NM_001023570.4(IQCB1):c.1711G>T (p.Glu571Ter) rs2108503098
NM_001023570.4(IQCB1):c.1720G>A (p.Asp574Asn)
NM_001023570.4(IQCB1):c.1738A>C (p.Lys580Gln) rs2108503039
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter) rs1947917811
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.264-3C>T rs1950460725
NM_001023570.4(IQCB1):c.295G>A (p.Asp99Asn) rs1950459236
NM_001023570.4(IQCB1):c.298G>A (p.Ala100Thr)
NM_001023570.4(IQCB1):c.29T>A (p.Ile10Asn)
NM_001023570.4(IQCB1):c.314A>G (p.Asn105Ser) rs1950458495
NM_001023570.4(IQCB1):c.319T>A (p.Leu107Ile) rs2108637533
NM_001023570.4(IQCB1):c.332C>T (p.Ala111Val)
NM_001023570.4(IQCB1):c.340A>C (p.Asn114His) rs2108637450
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.362A>G (p.Gln121Arg) rs2108637383
NM_001023570.4(IQCB1):c.366A>C (p.Leu122Phe) rs766755059
NM_001023570.4(IQCB1):c.369A>T (p.Gln123His) rs970350621
NM_001023570.4(IQCB1):c.385G>C (p.Ala129Pro) rs767567960
NM_001023570.4(IQCB1):c.394-3A>G
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly)
NM_001023570.4(IQCB1):c.455T>G (p.Leu152Arg)
NM_001023570.4(IQCB1):c.461G>A (p.Gly154Glu) rs376120512
NM_001023570.4(IQCB1):c.479T>C (p.Ile160Thr)
NM_001023570.4(IQCB1):c.487+6A>G
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile)
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) rs746194022
NM_001023570.4(IQCB1):c.493C>G (p.Gln165Glu) rs781508757
NM_001023570.4(IQCB1):c.550G>A (p.Val184Ile)
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.588-18T>A
NM_001023570.4(IQCB1):c.623A>G (p.Tyr208Cys)
NM_001023570.4(IQCB1):c.634G>C (p.Asp212His)
NM_001023570.4(IQCB1):c.635A>G (p.Asp212Gly)
NM_001023570.4(IQCB1):c.64G>C (p.Glu22Gln) rs1473351493
NM_001023570.4(IQCB1):c.65A>G (p.Glu22Gly)
NM_001023570.4(IQCB1):c.664C>T (p.Pro222Ser)
NM_001023570.4(IQCB1):c.688G>A (p.Ala230Thr)
NM_001023570.4(IQCB1):c.704T>A (p.Leu235Gln) rs1949315817
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.772A>G (p.Arg258Gly) rs2108566176
NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln) rs199959360
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887
NM_001023570.4(IQCB1):c.861G>T (p.Gln287His)
NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys) rs1030791636
NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg)
NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser) rs1949147133
NM_001023570.4(IQCB1):c.904C>A (p.Gln302Lys) rs756776335
NM_001023570.4(IQCB1):c.917A>C (p.Lys306Thr) rs1471637477
NM_001023570.4(IQCB1):c.927G>C (p.Gln309His) rs2108561479
NM_001023570.4(IQCB1):c.975G>T (p.Gln325His)
NM_001031679.3(MSRB3):c.-51-1502G>A rs2136420609
NM_001031679.3(MSRB3):c.238GTT[1] (p.Val81del)
NM_001031679.3(MSRB3):c.383G>A (p.Cys128Tyr)
NM_001038603.3(MARVELD2):c.*157T>C rs374775664
NM_001038603.3(MARVELD2):c.*346C>G rs1767342960
NM_001038603.3(MARVELD2):c.*376C>T rs756402195
NM_001038603.3(MARVELD2):c.*8T>G rs1767331338
NM_001038603.3(MARVELD2):c.*97C>T rs568296893
NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala) rs886060733
NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn) rs886060734
NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile) rs1766998325
NM_001038603.3(MARVELD2):c.1554+286T>C
NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro) rs151176949
NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser) rs886060731
NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys) rs886060732
NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln) rs1766579334
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) rs747588173
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) rs752019502
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) rs1924587856
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu) rs2145866277
NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)
NM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu)
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)
NM_001039213.4(CEACAM16):c.-8G>A rs1355072516
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)
NM_001039958.2(MESP2):c.*210C>G rs886051548
NM_001039958.2(MESP2):c.1017C>G (p.Pro339=) rs370227491
NM_001039958.2(MESP2):c.1017dup (p.Gly340fs) rs772586292
NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs) rs1481361626
NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs) rs1555439287
NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter) rs1420321324
NM_001039958.2(MESP2):c.1155AGA[1] (p.Glu386del) rs543667424
NM_001039958.2(MESP2):c.157C>T (p.Gln53Ter)
NM_001039958.2(MESP2):c.189C>G (p.Ala63=) rs534821207
NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup) rs1468688261
NM_001039958.2(MESP2):c.220G>A (p.Ala74Thr)
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg) rs1968366047
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro) rs986299993
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg) rs1377497655
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro) rs1968366878
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser) rs1968368157
NM_001039958.2(MESP2):c.378C>G (p.Arg126=) rs748816022
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala) rs1968372166
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.531_550del (p.Glu178fs) rs1567149313
NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11]) rs397507446
NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs) rs1555439104
NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala) rs764078106
NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu) rs776642665
NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7]) rs771492607
NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9]) rs750330966
NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12]) rs1555439121
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr) rs781296717
NM_001039958.2(MESP2):c.640_643del (p.Val214fs) rs1468383573
NM_001039958.2(MESP2):c.718del (p.Val240fs) rs756232049
NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu) rs886051546
NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del) rs1555439163
NM_001039958.2(MESP2):c.918_919del (p.Tyr307fs) rs1428605825
NM_001039958.2(MESP2):c.948_949del (p.Cys317fs) rs757634059
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter) rs1555439250
NM_001040167.2(LFNG):c.1005_1013dup (p.Phe337_Glu338insAspMetPhe)
NM_001040167.2(LFNG):c.1008G>A (p.Met336Ile)
NM_001040167.2(LFNG):c.1013A>T (p.Glu338Val) rs770620949
NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly) rs1341252096
NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)
NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys)
NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile) rs1369297768
NM_001040167.2(LFNG):c.137C>T (p.Ala46Val)
NM_001040167.2(LFNG):c.140G>A (p.Gly47Asp) rs1322872527
NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val) rs1562551243
NM_001040167.2(LFNG):c.214C>T (p.His72Tyr) rs1779742939
NM_001040167.2(LFNG):c.245C>A (p.Thr82Asn) rs1405255261
NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser)
NM_001040167.2(LFNG):c.299A>T (p.Asp100Val)
NM_001040167.2(LFNG):c.306C>A (p.His102Gln)
NM_001040167.2(LFNG):c.307C>G (p.Pro103Ala) rs778333281
NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr)
NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly)
NM_001040167.2(LFNG):c.434C>A (p.Thr145Lys) rs1413169361
NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr) rs1779735531
NM_001040167.2(LFNG):c.508G>A (p.Ala170Thr)
NM_001040167.2(LFNG):c.566T>C (p.Ile189Thr) rs984175416
NM_001040167.2(LFNG):c.568G>A (p.Glu190Lys)
NM_001040167.2(LFNG):c.569A>T (p.Glu190Val)
NM_001040167.2(LFNG):c.620T>A (p.Leu207Gln)
NM_001040167.2(LFNG):c.659C>T (p.Thr220Met)
NM_001040167.2(LFNG):c.67G>T (p.Val23Leu) rs2128375068
NM_001040167.2(LFNG):c.716G>A (p.Arg239Gln)
NM_001040167.2(LFNG):c.761C>T (p.Thr254Met) rs2128377515
NM_001040167.2(LFNG):c.788G>A (p.Arg263His) rs201864741
NM_001040167.2(LFNG):c.788G>T (p.Arg263Leu) rs201864741
NM_001040167.2(LFNG):c.810C>A (p.Ser270Arg) rs764879786
NM_001040167.2(LFNG):c.822-19G>A
NM_001040167.2(LFNG):c.826G>C (p.Gly276Arg)
NM_001040167.2(LFNG):c.856C>T (p.Arg286Trp)
NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe)
NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu)
NM_001040167.2(LFNG):c.951C>A (p.Asn317Lys) rs1464471879
NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly) rs1596871384
NM_001040616.3(LINS1):c.1909G>A (p.Val637Met) rs376634257
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser) rs2037687560
NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)
NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln) rs2038477427
NM_001040616.3(LINS1):c.332A>C (p.His111Pro)
NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)
NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del) rs2038007278
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn) rs2037993710
NM_001042472.2(ABHD12):c.-260G>A rs886056566
NM_001042472.3(ABHD12):c.*331G>C rs927058842
NM_001042472.3(ABHD12):c.*414del rs886056561
NM_001042472.3(ABHD12):c.*45G>C rs200450758
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val) rs776381886
NM_001042472.3(ABHD12):c.542+6G>A rs752298031
NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg) rs2145961090
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val) rs2145936237
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=) rs911558545
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042517.2(DIAPH3):c.2084_2088del (p.Glu695fs) rs749068924
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter) rs781626494
NM_001042545.2(LTBP4):c.*125C>T rs569370832
NM_001042545.2(LTBP4):c.*126G>T rs567854760
NM_001042545.2(LTBP4):c.*185_*187del rs558641472
NM_001042545.2(LTBP4):c.*259C>G rs868829972
NM_001042545.2(LTBP4):c.*42G>A rs2081663869
NM_001042545.2(LTBP4):c.*59C>T rs1362204630
NM_001042545.2(LTBP4):c.*97G>T rs1242020458
NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)
NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=) rs770158909
NM_001042545.2(LTBP4):c.1611G>C (p.Glu537Asp)
NM_001042545.2(LTBP4):c.1636G>A (p.Val546Met) rs886054446
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) rs578204135
NM_001042545.2(LTBP4):c.2180-3C>A rs560687578
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg) rs559350666
NM_001042545.2(LTBP4):c.2835T>C (p.Tyr945=) rs762043638
NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu) rs544671195
NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu) rs886054448
NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg) rs886054449
NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala) rs886054450
NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu) rs886054451
NM_001042545.2(LTBP4):c.534G>A (p.Glu178=) rs2081452931
NM_001042545.2(LTBP4):c.564G>A (p.Ala188=) rs759941927
NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)
NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)
NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr) rs2146021507
NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala) rs2081460773
NM_001042545.2(LTBP4):c.999dup (p.Val334fs)
NM_001042702.5(PJVK):c.-49G>T rs886055211
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001042702.5(PJVK):c.450C>T (p.Ser150=) rs1684057503
NM_001042702.5(PJVK):c.525T>G (p.Ala175=) rs1684063153
NM_001042702.5(PJVK):c.753C>A (p.Ile251=) rs886055212
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) rs17304212
NM_001042702.5(PJVK):c.880C>A (p.His294Asn) rs2154126353
NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro) rs532114292
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1436G>T rs528180812
NM_001044385.3(TMEM237):c.*1606T>C rs1000633418
NM_001044385.3(TMEM237):c.*1879G>A rs1301264448
NM_001044385.3(TMEM237):c.*1890G>A rs191383267
NM_001044385.3(TMEM237):c.*2307A>G rs1957712077
NM_001044385.3(TMEM237):c.*2448C>A rs1234909902
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C rs1957709069
NM_001044385.3(TMEM237):c.*2652A>G rs1957708713
NM_001044385.3(TMEM237):c.*2670C>T rs1559581980
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T rs1957734276
NM_001044385.3(TMEM237):c.*3350A>T rs561312621
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*62A>G rs1957736360
NM_001044385.3(TMEM237):c.*663G>C rs940503609
NM_001044385.3(TMEM237):c.*781G>A rs1957729006
NM_001044385.3(TMEM237):c.*895C>G rs1957727656
NM_001044385.3(TMEM237):c.*940A>C rs1957727275
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu) rs1957756642
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu) rs138509553
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala) rs1957756375
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
NM_001044385.3(TMEM237):c.1159+3A>G rs754717992
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser) rs1957737864
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) rs765428296
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser) rs1376540567
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu) rs562984785
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) rs1687306098
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His) rs768568104
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser) rs376226585
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val) rs1369476710
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) rs367728637
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln) rs778373105
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln) rs2105906100
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile) rs1324625933
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn) rs1687222402
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys) rs1319201699
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr) rs2105900828
NM_001044385.3(TMEM237):c.42+6C>T
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) rs2105900282
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) rs2105900253
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser) rs772074875
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) rs1957812548
NM_001044385.3(TMEM237):c.553+2dup rs1957812399
NM_001044385.3(TMEM237):c.553+3dup rs1957812369
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu) rs1202199961
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile) rs767769973
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe) rs2105899190
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) rs769861092
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg) rs1163877651
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser) rs763431945
NM_001044385.3(TMEM237):c.74+12_74+14del
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) rs2105898977
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro) rs992818026
NM_001044385.3(TMEM237):c.79+5G>C
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) rs1015591586
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr) rs1343901400
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
NM_001044385.3(TMEM237):c.870-8T>G rs2105898458
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly) rs2105898418
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg) rs1380123430
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro) rs2105898403
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp) rs1043186259
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val) rs2105898068
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg) rs1957768968
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg) rs1057148787
NM_001048166.1(STIL):c.*252A>G rs765271015
NM_001048166.1(STIL):c.-121C>G rs541027571
NM_001048166.1(STIL):c.-121C>T rs541027571
NM_001048166.1(STIL):c.1011A>C (p.Leu337Phe)
NM_001048166.1(STIL):c.1137T>C (p.Ser379=) rs587784447
NM_001048166.1(STIL):c.1421A>G (p.His474Arg) rs886046391
NM_001048166.1(STIL):c.1550A>G (p.His517Arg) rs1645140047
NM_001048166.1(STIL):c.1667C>T (p.Ser556Phe) rs752376811
NM_001048166.1(STIL):c.2016C>T (p.Gly672=) rs1645124235
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del) rs587784448
NM_001048166.1(STIL):c.2058A>C (p.Ala686=) rs981021442
NM_001048166.1(STIL):c.2372C>T (p.Ala791Val)
NM_001048166.1(STIL):c.2951C>T (p.Thr984Ile) rs587784450
NM_001048166.1(STIL):c.3491A>T (p.Gln1164Leu) rs1644182557
NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)
NM_001048166.1(STIL):c.3563G>T (p.Gly1188Val) rs1644179901
NM_001048166.1(STIL):c.3579G>A (p.Thr1193=) rs749339741
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
NM_001048166.1(STIL):c.417A>G (p.Ile139Met)
NM_001048166.1(STIL):c.443C>T (p.Ser148Leu) rs2149198646
NM_001048166.1(STIL):c.460C>A (p.Gln154Lys) rs1437830511
NM_001048166.1(STIL):c.481G>T (p.Asp161Tyr) rs1645760249
NM_001048166.1(STIL):c.640C>A (p.Leu214Met) rs2149181327
NM_001048166.1(STIL):c.66del (p.Pro23fs) rs1645910850
NM_001048166.1(STIL):c.708T>C (p.Leu236=) rs886046392
NM_001048166.1(STIL):c.731T>G (p.Leu244Trp)
NM_001048166.1(STIL):c.893A>T (p.Asn298Ile) rs562083602
NM_001048174.2(MUTYH):c.*34GTT[1] rs373507005
NM_001048174.2(MUTYH):c.-6-3C>T rs1196822993
NM_001048174.2(MUTYH):c.1000G>A (p.Ala334Thr) rs1570385510
NM_001048174.2(MUTYH):c.1001C>T (p.Ala334Val) rs753207020
NM_001048174.2(MUTYH):c.1009A>G (p.Lys337Glu) rs2149127392
NM_001048174.2(MUTYH):c.1010A>T (p.Lys337Met) rs1553126588
NM_001048174.2(MUTYH):c.1011G>C (p.Lys337Asn) rs1644913465
NM_001048174.2(MUTYH):c.1011G>T (p.Lys337Asn) rs1644913465
NM_001048174.2(MUTYH):c.1011_1012delinsTT (p.Lys337_Pro338delinsAsnSer) rs1570384879
NM_001048174.2(MUTYH):c.1012C>A (p.Pro338Thr) rs267598622
NM_001048174.2(MUTYH):c.1013C>A (p.Pro338His) rs1557464361
NM_001048174.2(MUTYH):c.1013C>T (p.Pro338Leu) rs1557464361
NM_001048174.2(MUTYH):c.1015C>T (p.Pro339Ser)
NM_001048174.2(MUTYH):c.1016C>T (p.Pro339Leu) rs764941200
NM_001048174.2(MUTYH):c.1018A>G (p.Arg340Gly)
NM_001048174.2(MUTYH):c.1019G>A (p.Arg340Lys) rs1060501340
NM_001048174.2(MUTYH):c.1021G>C (p.Glu341Gln)
NM_001048174.2(MUTYH):c.1026G>C (p.Glu342Asp)
NM_001048174.2(MUTYH):c.1030T>C (p.Ser344Pro) rs587782261
NM_001048174.2(MUTYH):c.1030T>G (p.Ser344Ala) rs587782261
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1033G>A (p.Ala345Thr)
NM_001048174.2(MUTYH):c.1033G>T (p.Ala345Ser) rs1553126489
NM_001048174.2(MUTYH):c.1048G>A (p.Glu350Lys) rs772113192
NM_001048174.2(MUTYH):c.104C>G (p.Ser35Cys)
NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=) rs886046366
NM_001048174.2(MUTYH):c.1054C>G (p.Pro352Ala) rs876658699
NM_001048174.2(MUTYH):c.1055C>G (p.Pro352Arg) rs774441289
NM_001048174.2(MUTYH):c.1057G>C (p.Gly353Arg)
NM_001048174.2(MUTYH):c.1058G>C (p.Gly353Ala)
NM_001048174.2(MUTYH):c.1060G>A (p.Ala354Thr) rs1570381741
NM_001048174.2(MUTYH):c.1061C>T (p.Ala354Val) rs1570381679
NM_001048174.2(MUTYH):c.1066G>A (p.Gly356Arg)
NM_001048174.2(MUTYH):c.1067G>A (p.Gly356Glu) rs1553126383
NM_001048174.2(MUTYH):c.1069G>A (p.Ala357Thr) rs876659232
NM_001048174.2(MUTYH):c.1069G>C (p.Ala357Pro) rs876659232
NM_001048174.2(MUTYH):c.1069G>T (p.Ala357Ser) rs876659232
NM_001048174.2(MUTYH):c.106G>A (p.Ala36Thr) rs876660488
NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu) rs878854183
NM_001048174.2(MUTYH):c.1075A>C (p.Ile359Leu) rs2149125378
NM_001048174.2(MUTYH):c.1084G>A (p.Val362Met) rs1644891144
NM_001048174.2(MUTYH):c.1084G>T (p.Val362Leu) rs1644891144
NM_001048174.2(MUTYH):c.1088A>G (p.Gln363Arg) rs984795084
NM_001048174.2(MUTYH):c.1094C>T (p.Pro365Leu) rs1570380627
NM_001048174.2(MUTYH):c.1096A>G (p.Asn366Asp) rs1644888393
NM_001048174.2(MUTYH):c.1102+5C>A
NM_001048174.2(MUTYH):c.1102G>C (p.Gly368Arg)
NM_001048174.2(MUTYH):c.1103-3C>T rs1644865329
NM_001048174.2(MUTYH):c.1103G>T (p.Gly368Val) rs36053993
NM_001048174.2(MUTYH):c.1111G>A (p.Ala371Thr) rs876658372
NM_001048174.2(MUTYH):c.1111G>T (p.Ala371Ser) rs876658372
NM_001048174.2(MUTYH):c.1114G>A (p.Gly372Arg) rs1644862174
NM_001048174.2(MUTYH):c.1115G>A (p.Gly372Glu) rs2149121800
NM_001048174.2(MUTYH):c.1117C>A (p.Leu373Met) rs1060501334
NM_001048174.2(MUTYH):c.1118T>A (p.Leu373Gln) rs1557461836
NM_001048174.2(MUTYH):c.1118T>C (p.Leu373Pro)
NM_001048174.2(MUTYH):c.1120T>C (p.Trp374Arg) rs1644859886
NM_001048174.2(MUTYH):c.1123G>A (p.Glu375Lys) rs1644859056
NM_001048174.2(MUTYH):c.1125G>C (p.Glu375Asp) rs876660199
NM_001048174.2(MUTYH):c.1125G>T (p.Glu375Asp) rs876660199
NM_001048174.2(MUTYH):c.1128_1130dup (p.Pro377dup) rs1553126007
NM_001048174.2(MUTYH):c.1129C>T (p.Pro377Ser) rs121908382
NM_001048174.2(MUTYH):c.1132T>C (p.Ser378Pro) rs2149121171
NM_001048174.2(MUTYH):c.1135_1140del (p.Val379_Thr380del) rs2149120850
NM_001048174.2(MUTYH):c.1136T>C (p.Val379Ala) rs1644853541
NM_001048174.2(MUTYH):c.1139C>T (p.Thr380Ile)
NM_001048174.2(MUTYH):c.1147C>A (p.Pro383Thr) rs2149120668
NM_001048174.2(MUTYH):c.1147C>T (p.Pro383Ser)
NM_001048174.2(MUTYH):c.1148_1156del (p.Pro383_Glu385del)
NM_001048174.2(MUTYH):c.114T>C (p.Asp38=)
NM_001048174.2(MUTYH):c.115+3A>G rs1553131280
NM_001048174.2(MUTYH):c.115+5G>A rs1570463324
NM_001048174.2(MUTYH):c.115+6G>A
NM_001048174.2(MUTYH):c.115+9C>G
NM_001048174.2(MUTYH):c.1153G>C (p.Glu385Gln) rs1371096605
NM_001048174.2(MUTYH):c.1159C>G (p.Leu387Val)
NM_001048174.2(MUTYH):c.1159C>T (p.Leu387Phe) rs1557460984
NM_001048174.2(MUTYH):c.116-2A>T
NM_001048174.2(MUTYH):c.116-45C>T
NM_001048174.2(MUTYH):c.116-55C>T rs1316542179
NM_001048174.2(MUTYH):c.1167C>T (p.Arg389=) rs786202141
NM_001048174.2(MUTYH):c.1168A>G (p.Lys390Glu) rs864622671
NM_001048174.2(MUTYH):c.1171G>C (p.Ala391Pro) rs587780744
NM_001048174.2(MUTYH):c.1172C>T (p.Ala391Val) rs369299948
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1178T>C (p.Leu393Pro) rs1553125786
NM_001048174.2(MUTYH):c.1181A>G (p.Gln394Arg) rs1644839551
NM_001048174.2(MUTYH):c.1183G>A (p.Glu395Lys)
NM_001048174.2(MUTYH):c.1184A>G (p.Glu395Gly) rs1553125769
NM_001048174.2(MUTYH):c.1189C>G (p.Gln397Glu) rs2149119069
NM_001048174.2(MUTYH):c.1190A>G (p.Gln397Arg) rs1205029214
NM_001048174.2(MUTYH):c.1192C>A (p.Arg398Ser) rs150792276
NM_001048174.2(MUTYH):c.1193G>A (p.Arg398His) rs748700385
NM_001048174.2(MUTYH):c.1193G>T (p.Arg398Leu) rs748700385
NM_001048174.2(MUTYH):c.1196G>T (p.Trp399Leu) rs876658787
NM_001048174.2(MUTYH):c.1197G>T (p.Trp399Cys)
NM_001048174.2(MUTYH):c.1198G>C (p.Ala400Pro)
NM_001048174.2(MUTYH):c.1199C>G (p.Ala400Gly) rs1060501326
NM_001048174.2(MUTYH):c.1202G>A (p.Gly401Glu) rs1570372277
NM_001048174.2(MUTYH):c.1202G>C (p.Gly401Ala)
NM_001048174.2(MUTYH):c.1204C>A (p.Pro402Thr) rs1553125687
NM_001048174.2(MUTYH):c.1204C>G (p.Pro402Ala) rs1553125687
NM_001048174.2(MUTYH):c.1205C>G (p.Pro402Arg) rs587780079
NM_001048174.2(MUTYH):c.1207C>G (p.Leu403Val) rs1280648051
NM_001048174.2(MUTYH):c.1207C>T (p.Leu403Phe)
NM_001048174.2(MUTYH):c.1208T>A (p.Leu403His) rs2149118243
NM_001048174.2(MUTYH):c.1211C>A (p.Pro404Gln)
NM_001048174.2(MUTYH):c.1211C>T (p.Pro404Leu)
NM_001048174.2(MUTYH):c.1213G>T (p.Ala405Ser)
NM_001048174.2(MUTYH):c.1214C>G (p.Ala405Gly) rs1557459395
NM_001048174.2(MUTYH):c.1214C>T (p.Ala405Val) rs1557459395
NM_001048174.2(MUTYH):c.1220_1225del (p.His407_Leu408del) rs2149117529
NM_001048174.2(MUTYH):c.1221C>A (p.His407Gln)
NM_001048174.2(MUTYH):c.1222C>T (p.Leu408Phe)
NM_001048174.2(MUTYH):c.1223T>A (p.Leu408His) rs1570370748
NM_001048174.2(MUTYH):c.1223T>G (p.Leu408Arg)
NM_001048174.2(MUTYH):c.1225C>A (p.Arg409=) rs587778540
NM_001048174.2(MUTYH):c.1225C>G (p.Arg409Gly)
NM_001048174.2(MUTYH):c.1226G>T (p.Arg409Leu) rs587782120
NM_001048174.2(MUTYH):c.122C>T (p.Ala41Val) rs786203354
NM_001048174.2(MUTYH):c.1230C>A (p.His410Gln)
NM_001048174.2(MUTYH):c.1232T>C (p.Leu411Pro) rs587780745
NM_001048174.2(MUTYH):c.1232T>G (p.Leu411Arg)
NM_001048174.2(MUTYH):c.1234G>C (p.Gly412Arg) rs1644819961
NM_001048174.2(MUTYH):c.1235G>C (p.Gly412Ala) rs1557458862
NM_001048174.2(MUTYH):c.1237G>A (p.Glu413Lys) rs2149117001
NM_001048174.2(MUTYH):c.1239+10C>T
NM_001048174.2(MUTYH):c.1239+3A>C rs1553125444
NM_001048174.2(MUTYH):c.1239+4dup rs2149116805
NM_001048174.2(MUTYH):c.1239+6T>C rs1060501341
NM_001048174.2(MUTYH):c.1239+6_1239+12del rs1060501332
NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=) rs587782564
NM_001048174.2(MUTYH):c.1240-3C>T rs2149115137
NM_001048174.2(MUTYH):c.1250C>T (p.Thr417Ile)
NM_001048174.2(MUTYH):c.1253_1255del (p.Phe418del) rs747232389
NM_001048174.2(MUTYH):c.1254C>G (p.Phe418Leu)
NM_001048174.2(MUTYH):c.1256C>T (p.Ser419Phe)
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_001048174.2(MUTYH):c.1258C>T (p.His420Tyr) rs786202133
NM_001048174.2(MUTYH):c.1259A>T (p.His420Leu)
NM_001048174.2(MUTYH):c.125G>A (p.Arg42Lys) rs1645382242
NM_001048174.2(MUTYH):c.1260C>G (p.His420Gln)
NM_001048174.2(MUTYH):c.1261A>G (p.Ile421Val) rs2149114449
NM_001048174.2(MUTYH):c.1264A>C (p.Lys422Gln) rs1644794654
NM_001048174.2(MUTYH):c.1264A>G (p.Lys422Glu) rs1644794654
NM_001048174.2(MUTYH):c.1265A>T (p.Lys422Met) rs1644794295
NM_001048174.2(MUTYH):c.1268T>A (p.Leu423Gln)
NM_001048174.2(MUTYH):c.1271C>T (p.Thr424Ile) rs2149114074
NM_001048174.2(MUTYH):c.1274A>G (p.Tyr425Cys) rs1553125235
NM_001048174.2(MUTYH):c.1283A>T (p.Tyr428Phe) rs1399651154
NM_001048174.2(MUTYH):c.1286G>A (p.Gly429Glu) rs1553125193
NM_001048174.2(MUTYH):c.1288C>G (p.Leu430Val)
NM_001048174.2(MUTYH):c.1291G>A (p.Ala431Thr) rs1644787002
NM_001048174.2(MUTYH):c.1295T>C (p.Leu432Ser) rs1553125160
NM_001048174.2(MUTYH):c.1296G>A (p.Leu432=) rs1553125152
NM_001048174.2(MUTYH):c.129G>C (p.Gln43His)
NM_001048174.2(MUTYH):c.1302G>A (p.Gly434=)
NM_001048174.2(MUTYH):c.1304A>T (p.Gln435Leu) rs2149113301
NM_001048174.2(MUTYH):c.1305G>C (p.Gln435His) rs1434384304
NM_001048174.2(MUTYH):c.1307C>A (p.Thr436Asn)
NM_001048174.2(MUTYH):c.1309C>T (p.Pro437Ser) rs375597447
NM_001048174.2(MUTYH):c.1313T>G (p.Val438Gly)
NM_001048174.2(MUTYH):c.1319C>T (p.Thr440Ile) rs1644780151
NM_001048174.2(MUTYH):c.1322T>C (p.Val441Ala)
NM_001048174.2(MUTYH):c.1325C>T (p.Pro442Leu) rs786202930
NM_001048174.2(MUTYH):c.1327C>A (p.Pro443Thr) rs864622204
NM_001048174.2(MUTYH):c.1327C>G (p.Pro443Ala)
NM_001048174.2(MUTYH):c.132G>T (p.Pro44=)
NM_001048174.2(MUTYH):c.1330G>A (p.Gly444Ser) rs758262369
NM_001048174.2(MUTYH):c.1330G>C (p.Gly444Arg) rs758262369
NM_001048174.2(MUTYH):c.1331G>A (p.Gly444Asp) rs1553125016
NM_001048174.2(MUTYH):c.1331G>T (p.Gly444Val) rs1553125016
NM_001048174.2(MUTYH):c.1332T>G (p.Gly444=)
NM_001048174.2(MUTYH):c.1337G>A (p.Arg446His) rs764276907
NM_001048174.2(MUTYH):c.1337G>C (p.Arg446Pro) rs764276907
NM_001048174.2(MUTYH):c.1337G>T (p.Arg446Leu) rs764276907
NM_001048174.2(MUTYH):c.1339T>C (p.Trp447Arg) rs1570364144
NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys) rs1064794128
NM_001048174.2(MUTYH):c.1343T>A (p.Leu448Gln)
NM_001048174.2(MUTYH):c.1343T>C (p.Leu448Pro) rs756405535
NM_001048174.2(MUTYH):c.1345A>G (p.Thr449Ala) rs1553124948
NM_001048174.2(MUTYH):c.1345A>T (p.Thr449Ser) rs1553124948
NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met) rs767747402
NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg) rs774607582
NM_001048174.2(MUTYH):c.1349A>T (p.Gln450Leu)
NM_001048174.2(MUTYH):c.1355A>T (p.Glu452Val) rs1644769384
NM_001048174.2(MUTYH):c.1357T>A (p.Phe453Ile)
NM_001048174.2(MUTYH):c.1357T>C (p.Phe453Leu)
NM_001048174.2(MUTYH):c.135A>T (p.Glu45Asp)
NM_001048174.2(MUTYH):c.1361A>G (p.His454Arg) rs1644768697
NM_001048174.2(MUTYH):c.1363A>G (p.Thr455Ala)
NM_001048174.2(MUTYH):c.1363A>T (p.Thr455Ser) rs1570363119
NM_001048174.2(MUTYH):c.1366G>A (p.Ala456Thr) rs1441591597
NM_001048174.2(MUTYH):c.1367C>T (p.Ala456Val)
NM_001048174.2(MUTYH):c.136G>C (p.Glu46Gln) rs2149175619
NM_001048174.2(MUTYH):c.1372G>C (p.Val458Leu) rs151144295
NM_001048174.2(MUTYH):c.1375T>C (p.Ser459Pro) rs1570362767
NM_001048174.2(MUTYH):c.1376C>G (p.Ser459Cys) rs1644764817
NM_001048174.2(MUTYH):c.1378A>G (p.Thr460Ala) rs768222428
NM_001048174.2(MUTYH):c.1379C>T (p.Thr460Ile)
NM_001048174.2(MUTYH):c.137A>C (p.Glu46Ala) rs1471949219
NM_001048174.2(MUTYH):c.1384A>G (p.Met462Val) rs771655808
NM_001048174.2(MUTYH):c.1385T>C (p.Met462Thr) rs1570362145
NM_001048174.2(MUTYH):c.1386G>T (p.Met462Ile) rs1570362086
NM_001048174.2(MUTYH):c.1387A>G (p.Lys463Glu) rs876660774
NM_001048174.2(MUTYH):c.1388A>G (p.Lys463Arg) rs1431036902
NM_001048174.2(MUTYH):c.1392+3A>G rs1064796189
NM_001048174.2(MUTYH):c.1392+4C>T rs1557455162
NM_001048174.2(MUTYH):c.1392+6A>G rs4660848
NM_001048174.2(MUTYH):c.1392G>C (p.Lys464Asn) rs878854185
NM_001048174.2(MUTYH):c.1393-11T>G rs868701952
NM_001048174.2(MUTYH):c.1393-4C>G rs1553124158
NM_001048174.2(MUTYH):c.1393G>A (p.Val465Ile) rs587782228
NM_001048174.2(MUTYH):c.1396T>C (p.Phe466Leu) rs535102558
NM_001048174.2(MUTYH):c.13C>G (p.Arg5Gly) rs587780088
NM_001048174.2(MUTYH):c.1400G>C (p.Arg467Pro) rs144111588
NM_001048174.2(MUTYH):c.1402G>A (p.Val468Met) rs587781385
NM_001048174.2(MUTYH):c.1406A>G (p.Tyr469Cys) rs2149103640
NM_001048174.2(MUTYH):c.1411G>A (p.Gly471Ser) rs1553124088
NM_001048174.2(MUTYH):c.1414_1418inv (p.Gln472_Gln473delinsCysTrp)
NM_001048174.2(MUTYH):c.1415A>C (p.Gln472Pro) rs1557451662
NM_001048174.2(MUTYH):c.1418A>G (p.Gln473Arg) rs1454804175
NM_001048174.2(MUTYH):c.1420C>A (p.Pro474Thr) rs1644621336
NM_001048174.2(MUTYH):c.1421C>T (p.Pro474Leu) rs774287215
NM_001048174.2(MUTYH):c.1423G>T (p.Gly475Trp) rs1475081112
NM_001048174.2(MUTYH):c.1424G>T (p.Gly475Val) rs3219494
NM_001048174.2(MUTYH):c.1427C>T (p.Thr476Ile) rs1553124014
NM_001048174.2(MUTYH):c.1429T>C (p.Cys477Arg) rs876659488
NM_001048174.2(MUTYH):c.142G>A (p.Val48Ile)
NM_001048174.2(MUTYH):c.142G>T (p.Val48Leu) rs1553130405
NM_001048174.2(MUTYH):c.1430G>A (p.Cys477Tyr) rs1064793656
NM_001048174.2(MUTYH):c.1430G>C (p.Cys477Ser)
NM_001048174.2(MUTYH):c.1434+2dup rs2149102694
NM_001048174.2(MUTYH):c.1434+3A>G rs1553123967
NM_001048174.2(MUTYH):c.1434+3A>T rs1553123967
NM_001048174.2(MUTYH):c.1434+4_1434+5del rs2149102589
NM_001048174.2(MUTYH):c.1434+5G>A rs1114167686
NM_001048174.2(MUTYH):c.1434G>A (p.Met478Ile)
NM_001048174.2(MUTYH):c.1435-11T>G rs1064793775
NM_001048174.2(MUTYH):c.1435-2A>C rs1553123105
NM_001048174.2(MUTYH):c.1435-2A>T rs1553123105
NM_001048174.2(MUTYH):c.1435-3C>T rs776766717
NM_001048174.2(MUTYH):c.1435-4A>T
NM_001048174.2(MUTYH):c.1435-4_1439del rs2149090197
NM_001048174.2(MUTYH):c.1435-5C>A rs886046365
NM_001048174.2(MUTYH):c.1435-84_1512del
NM_001048174.2(MUTYH):c.1435G>C (p.Gly479Arg) rs1644383406
NM_001048174.2(MUTYH):c.1441A>G (p.Lys481Glu) rs563885946
NM_001048174.2(MUTYH):c.1442A>G (p.Lys481Arg) rs2149090096
NM_001048174.2(MUTYH):c.1445G>A (p.Arg482Lys) rs2149090030
NM_001048174.2(MUTYH):c.1446G>T (p.Arg482Ser)
NM_001048174.2(MUTYH):c.1447T>A (p.Ser483Thr)
NM_001048174.2(MUTYH):c.1450C>G (p.Gln484Glu) rs1644379783
NM_001048174.2(MUTYH):c.1451A>C (p.Gln484Pro) rs1553123054
NM_001048174.2(MUTYH):c.1451A>G (p.Gln484Arg) rs1553123054
NM_001048174.2(MUTYH):c.1456T>C (p.Ser486Pro)
NM_001048174.2(MUTYH):c.1462C>G (p.Pro488Ala) rs1553123034
NM_001048174.2(MUTYH):c.1463C>A (p.Pro488Gln)
NM_001048174.2(MUTYH):c.1463C>G (p.Pro488Arg)
NM_001048174.2(MUTYH):c.1465T>C (p.Cys489Arg) rs2149089530
NM_001048174.2(MUTYH):c.1466G>A (p.Cys489Tyr)
NM_001048174.2(MUTYH):c.1466G>C (p.Cys489Ser)
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.1468A>T (p.Ser490Cys)
NM_001048174.2(MUTYH):c.1469G>A (p.Ser490Asn)
NM_001048174.2(MUTYH):c.1472_1520del (p.Arg491fs) rs1064794411
NM_001048174.2(MUTYH):c.1475A>G (p.Lys492Arg) rs1644370527
NM_001048174.2(MUTYH):c.1479G>T (p.Lys493Asn) rs1644368705
NM_001048174.2(MUTYH):c.1480C>A (p.Pro494Thr) rs2149089064
NM_001048174.2(MUTYH):c.1480C>T (p.Pro494Ser) rs2149089064
NM_001048174.2(MUTYH):c.1481C>T (p.Pro494Leu) rs1553122949
NM_001048174.2(MUTYH):c.1483C>G (p.Arg495Gly)
NM_001048174.2(MUTYH):c.1484G>C (p.Arg495Pro) rs374655042
NM_001048174.2(MUTYH):c.1486A>C (p.Met496Leu) rs587780080
NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val) rs587780080
NM_001048174.2(MUTYH):c.1486A>T (p.Met496Leu) rs587780080
NM_001048174.2(MUTYH):c.1487T>C (p.Met496Thr) rs1570312788
NM_001048174.2(MUTYH):c.1488G>A (p.Met496Ile) rs1570312735
NM_001048174.2(MUTYH):c.1489G>A (p.Gly497Ser) rs2149088733
NM_001048174.2(MUTYH):c.148C>G (p.Gln50Glu) rs1645377813
NM_001048174.2(MUTYH):c.1490G>A (p.Gly497Asp)
NM_001048174.2(MUTYH):c.1492C>A (p.Gln498Lys)
NM_001048174.2(MUTYH):c.1494G>T (p.Gln498His)
NM_001048174.2(MUTYH):c.1498G>A (p.Val500Ile) rs1570312447
NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro) rs587780081
NM_001048174.2(MUTYH):c.14G>T (p.Arg5Leu) rs587780081
NM_001048174.2(MUTYH):c.14_16dup (p.Arg5_Ala6insGly) rs2149189490
NM_001048174.2(MUTYH):c.1504G>C (p.Asp502His) rs147923905
NM_001048174.2(MUTYH):c.1505A>C (p.Asp502Ala) rs1553122883
NM_001048174.2(MUTYH):c.1507_1509del (p.Asn503del) rs1557444203
NM_001048174.2(MUTYH):c.150G>C (p.Gln50His) rs1645377413
NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu) rs1557444106
NM_001048174.2(MUTYH):c.1516del (p.Arg506fs)
NM_001048174.2(MUTYH):c.1517G>C (p.Arg506Pro) rs3219497
NM_001048174.2(MUTYH):c.1519T>A (p.Ser507Thr) rs2149088099
NM_001048174.2(MUTYH):c.1519T>G (p.Ser507Ala) rs2149088099
NM_001048174.2(MUTYH):c.151G>A (p.Ala51Thr) rs1645377017
NM_001048174.2(MUTYH):c.151G>C (p.Ala51Pro) rs1645377017
NM_001048174.2(MUTYH):c.151G>T (p.Ala51Ser) rs1645377017
NM_001048174.2(MUTYH):c.1525A>C (p.Ile509Leu) rs757615745
NM_001048174.2(MUTYH):c.1525A>G (p.Ile509Val) rs757615745
NM_001048174.2(MUTYH):c.1526T>A (p.Ile509Asn)
NM_001048174.2(MUTYH):c.1527C>T (p.Ile509=)
NM_001048174.2(MUTYH):c.1528T>C (p.Ser510Pro)
NM_001048174.2(MUTYH):c.1529C>T (p.Ser510Phe)
NM_001048174.2(MUTYH):c.152C>A (p.Ala51Asp) rs1557487125
NM_001048174.2(MUTYH):c.152C>G (p.Ala51Gly) rs1557487125
NM_001048174.2(MUTYH):c.1536T>G (p.Asp512Glu) rs1570310709
NM_001048174.2(MUTYH):c.1537G>A (p.Ala513Thr)
NM_001048174.2(MUTYH):c.1537del (p.Ala513fs) rs1644350830
NM_001048174.2(MUTYH):c.1538C>A (p.Ala513Glu) rs751053826
NM_001048174.2(MUTYH):c.1538C>G (p.Ala513Gly) rs751053826
NM_001048174.2(MUTYH):c.1544G>A (p.Ser515Asn) rs1553122804
NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val) rs930407042
NM_001048174.2(MUTYH):c.1546C>T (p.Leu516Phe) rs930407042
NM_001048174.2(MUTYH):c.1549A>G (p.Asn517Asp) rs2149087458
NM_001048174.2(MUTYH):c.154T>G (p.Ser52Ala) rs2149175120
NM_001048174.2(MUTYH):c.1550A>G (p.Asn517Ser)
NM_001048174.2(MUTYH):c.1552A>G (p.Ser518Gly) rs1553122801
NM_001048174.2(MUTYH):c.1552dup (p.Ser518fs) rs1644347050
NM_001048174.2(MUTYH):c.1553G>A (p.Ser518Asn) rs2149087335
NM_001048174.2(MUTYH):c.1553G>C (p.Ser518Thr) rs2149087335
NM_001048174.2(MUTYH):c.1554T>G (p.Ser518Arg) rs1553122794
NM_001048174.2(MUTYH):c.1555G>A (p.Ala519Thr) rs1644345586
NM_001048174.2(MUTYH):c.1556C>A (p.Ala519Glu) rs1553122784
NM_001048174.2(MUTYH):c.1556C>T (p.Ala519Val) rs1553122784
NM_001048174.2(MUTYH):c.1561C>T (p.Gln521Ter) rs765990397
NM_001048174.2(MUTYH):c.1562A>C (p.Gln521Pro)
NM_001048174.2(MUTYH):c.157G>C (p.Val53Leu) rs946755892
NM_001048174.2(MUTYH):c.157G>T (p.Val53Phe) rs946755892
NM_001048174.2(MUTYH):c.159CTC[1] (p.Ser55del) rs1645373048
NM_001048174.2(MUTYH):c.161C>G (p.Ser54Cys) rs876658645
NM_001048174.2(MUTYH):c.163T>C (p.Ser55Pro) rs1570444542
NM_001048174.2(MUTYH):c.164C>T (p.Ser55Leu) rs370124822
NM_001048174.2(MUTYH):c.169C>T (p.His57Tyr) rs1645370714
NM_001048174.2(MUTYH):c.16G>T (p.Ala6Ser)
NM_001048174.2(MUTYH):c.172C>A (p.Leu58Ile)
NM_001048174.2(MUTYH):c.172C>G (p.Leu58Val) rs781163298
NM_001048174.2(MUTYH):c.178A>C (p.Arg60=)
NM_001048174.2(MUTYH):c.181G>C (p.Asp61His) rs1557486724
NM_001048174.2(MUTYH):c.187G>A (p.Ala63Thr) rs1553130284
NM_001048174.2(MUTYH):c.188C>T (p.Ala63Val)
NM_001048174.2(MUTYH):c.190G>A (p.Glu64Lys) rs1570443687
NM_001048174.2(MUTYH):c.193G>A (p.Val65Ile) rs2149174007
NM_001048174.2(MUTYH):c.194T>G (p.Val65Gly)
NM_001048174.2(MUTYH):c.194_199del (p.Val65_Thr66del) rs1553130269
NM_001048174.2(MUTYH):c.197C>T (p.Thr66Ile) rs1553130271
NM_001048174.2(MUTYH):c.19G>C (p.Ala7Pro) rs943979644
NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp) rs1645363196
NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly) rs1645363196
NM_001048174.2(MUTYH):c.202T>C (p.Phe68Leu) rs1553130266
NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr) rs750954949
NM_001048174.2(MUTYH):c.208G>A (p.Gly70Arg)
NM_001048174.2(MUTYH):c.208G>C (p.Gly70Arg) rs1570443086
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val) rs1057517460
NM_001048174.2(MUTYH):c.212G>A (p.Ser71Asn) rs1645359691
NM_001048174.2(MUTYH):c.213C>A (p.Ser71Arg) rs752209909
NM_001048174.2(MUTYH):c.218T>C (p.Leu73Pro) rs876660011
NM_001048174.2(MUTYH):c.220A>T (p.Ser74Cys) rs1645356863
NM_001048174.2(MUTYH):c.221G>A (p.Ser74Asn) rs863224697
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.225G>T (p.Trp75Cys) rs748170941
NM_001048174.2(MUTYH):c.226T>C (p.Tyr76His) rs1060501344
NM_001048174.2(MUTYH):c.226T>G (p.Tyr76Asp) rs1060501344
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.229G>C (p.Asp77His) rs587780746
NM_001048174.2(MUTYH):c.229G>T (p.Asp77Tyr) rs587780746
NM_001048174.2(MUTYH):c.22G>T (p.Val8Leu) rs3219484
NM_001048174.2(MUTYH):c.230A>G (p.Asp77Gly) rs1557485832
NM_001048174.2(MUTYH):c.231C>A (p.Asp77Glu)
NM_001048174.2(MUTYH):c.232C>A (p.Gln78Lys)
NM_001048174.2(MUTYH):c.233A>T (p.Gln78Leu) rs1553130148
NM_001048174.2(MUTYH):c.234A>C (p.Gln78His) rs2149172789
NM_001048174.2(MUTYH):c.235G>A (p.Glu79Lys) rs773108803
NM_001048174.2(MUTYH):c.235G>C (p.Glu79Gln) rs773108803
NM_001048174.2(MUTYH):c.236A>G (p.Glu79Gly) rs1060501339
NM_001048174.2(MUTYH):c.237G>T (p.Glu79Asp)
NM_001048174.2(MUTYH):c.238A>G (p.Lys80Glu) rs876658237
NM_001048174.2(MUTYH):c.242G>A (p.Arg81Gln) rs761763725
NM_001048174.2(MUTYH):c.242G>T (p.Arg81Leu)
NM_001048174.2(MUTYH):c.244G>T (p.Asp82Tyr) rs1553130091
NM_001048174.2(MUTYH):c.245A>T (p.Asp82Val)
NM_001048174.2(MUTYH):c.246C>A (p.Asp82Glu) rs1553130086
NM_001048174.2(MUTYH):c.247C>A (p.Leu83Ile) rs2149172338
NM_001048174.2(MUTYH):c.250C>A (p.Pro84Thr)
NM_001048174.2(MUTYH):c.253T>C (p.Trp85Arg) rs776719541
NM_001048174.2(MUTYH):c.257G>A (p.Arg86Lys) rs1557485377
NM_001048174.2(MUTYH):c.261A>T (p.Arg87Ser)
NM_001048174.2(MUTYH):c.262C>G (p.Arg88Gly) rs373766973
NM_001048174.2(MUTYH):c.263G>C (p.Arg88Pro) rs587782683
NM_001048174.2(MUTYH):c.264+4G>A rs1553130029
NM_001048174.2(MUTYH):c.264+5del rs1645340004
NM_001048174.2(MUTYH):c.264G>A (p.Arg88=) rs1292833913
NM_001048174.2(MUTYH):c.264G>T (p.Arg88=) rs1292833913
NM_001048174.2(MUTYH):c.265-3C>G
NM_001048174.2(MUTYH):c.265-3C>T rs534010336
NM_001048174.2(MUTYH):c.265-6T>A rs1645322283
NM_001048174.2(MUTYH):c.265G>A (p.Ala89Thr) rs1304163797
NM_001048174.2(MUTYH):c.268G>A (p.Glu90Lys) rs1553129892
NM_001048174.2(MUTYH):c.277A>G (p.Met93Val) rs1553129862
NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr) rs1557484437
NM_001048174.2(MUTYH):c.279G>A (p.Met93Ile) rs1557484399
NM_001048174.2(MUTYH):c.281_295del (p.Asp94_Arg98del)
NM_001048174.2(MUTYH):c.289A>G (p.Arg97Gly) rs2149169403
NM_001048174.2(MUTYH):c.28A>G (p.Ser10Gly) rs386833408
NM_001048174.2(MUTYH):c.28A>T (p.Ser10Cys)
NM_001048174.2(MUTYH):c.295G>A (p.Ala99Thr) rs746112825
NM_001048174.2(MUTYH):c.295G>T (p.Ala99Ser)
NM_001048174.2(MUTYH):c.298T>C (p.Tyr100His) rs1645311915
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615
NM_001048174.2(MUTYH):c.29G>A (p.Ser10Asn) rs876659143
NM_001048174.2(MUTYH):c.2T>G (p.Met1Arg) rs201163858
NM_001048174.2(MUTYH):c.301G>A (p.Ala101Thr) rs1553129798
NM_001048174.2(MUTYH):c.301G>C (p.Ala101Pro) rs1553129798
NM_001048174.2(MUTYH):c.302C>T (p.Ala101Val) rs1645310232
NM_001048174.2(MUTYH):c.304+4A>G
NM_001048174.2(MUTYH):c.304+4A>T
NM_001048174.2(MUTYH):c.304+6T>C rs864622067
NM_001048174.2(MUTYH):c.305-15A>G rs2149167066
NM_001048174.2(MUTYH):c.305-4C>G rs767717597
NM_001048174.2(MUTYH):c.305-5C>G rs1645283565
NM_001048174.2(MUTYH):c.305-7C>G rs863224698
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309G>C (p.Trp103Cys) rs587781295
NM_001048174.2(MUTYH):c.30T>A (p.Ser10Arg) rs1570466003
NM_001048174.2(MUTYH):c.310G>T (p.Val104Phe) rs763273196
NM_001048174.2(MUTYH):c.311T>A (p.Val104Asp) rs876660804
NM_001048174.2(MUTYH):c.316G>C (p.Glu106Gln) rs1645276297
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val) rs864622450
NM_001048174.2(MUTYH):c.324G>A (p.Met108Ile)
NM_001048174.2(MUTYH):c.326T>C (p.Leu109Pro) rs2149165922
NM_001048174.2(MUTYH):c.328_333del (p.Gln110_Gln111del)
NM_001048174.2(MUTYH):c.333G>C (p.Gln111His) rs1557482691
NM_001048174.2(MUTYH):c.335C>T (p.Thr112Ile)
NM_001048174.2(MUTYH):c.338A>C (p.Gln113Pro)
NM_001048174.2(MUTYH):c.339G>C (p.Gln113His)
NM_001048174.2(MUTYH):c.339G>T (p.Gln113His) rs371317117
NM_001048174.2(MUTYH):c.340G>A (p.Val114Ile) rs1454101217
NM_001048174.2(MUTYH):c.340G>C (p.Val114Leu)
NM_001048174.2(MUTYH):c.343G>A (p.Ala115Thr) rs1570433288
NM_001048174.2(MUTYH):c.344C>T (p.Ala115Val) rs2149165354
NM_001048174.2(MUTYH):c.346A>G (p.Thr116Ala)
NM_001048174.2(MUTYH):c.349G>C (p.Val117Leu) rs876660791
NM_001048174.2(MUTYH):c.34C>G (p.His12Asp) rs2149188841
NM_001048174.2(MUTYH):c.354C>G (p.Ile118Met)
NM_001048174.2(MUTYH):c.355A>G (p.Asn119Asp) rs1645267570
NM_001048174.2(MUTYH):c.358T>C (p.Tyr120His) rs1645266736
NM_001048174.2(MUTYH):c.359A>G (p.Tyr120Cys) rs1570433085
NM_001048174.2(MUTYH):c.365C>A (p.Thr122Asn)
NM_001048174.2(MUTYH):c.365C>T (p.Thr122Ile) rs745507536
NM_001048174.2(MUTYH):c.367G>C (p.Gly123Arg) rs587782165
NM_001048174.2(MUTYH):c.368G>T (p.Gly123Val) rs2149164661
NM_001048174.2(MUTYH):c.370T>A (p.Trp124Arg) rs1261588058
NM_001048174.2(MUTYH):c.373A>T (p.Met125Leu) rs1553129535
NM_001048174.2(MUTYH):c.375G>A (p.Met125Ile) rs1060501328
NM_001048174.2(MUTYH):c.378+13G>T rs1553129511
NM_001048174.2(MUTYH):c.378+3G>T rs373939052
NM_001048174.2(MUTYH):c.378+5C>T rs1645258363
NM_001048174.2(MUTYH):c.378G>A (p.Gln126=) rs1645260006
NM_001048174.2(MUTYH):c.379-3T>C rs770203030
NM_001048174.2(MUTYH):c.379-4A>G rs1553129371
NM_001048174.2(MUTYH):c.379-7G>A rs1553129378
NM_001048174.2(MUTYH):c.379-8G>A
NM_001048174.2(MUTYH):c.380A>C (p.Lys127Thr)
NM_001048174.2(MUTYH):c.383G>T (p.Trp128Leu) rs762307622
NM_001048174.2(MUTYH):c.385C>A (p.Pro129Thr)
NM_001048174.2(MUTYH):c.385C>T (p.Pro129Ser) rs1114167684
NM_001048174.2(MUTYH):c.38G>A (p.Arg13Lys) rs587782693
NM_001048174.2(MUTYH):c.391C>A (p.Leu131Met) rs199862273
NM_001048174.2(MUTYH):c.398A>T (p.Asp133Val) rs587782132
NM_001048174.2(MUTYH):c.3G>A (p.Met1Ile) rs1570467004
NM_001048174.2(MUTYH):c.403G>A (p.Ala135Thr) rs1570427764
NM_001048174.2(MUTYH):c.404C>A (p.Ala135Asp) rs1570427705
NM_001048174.2(MUTYH):c.404C>T (p.Ala135Val) rs1570427705
NM_001048174.2(MUTYH):c.407G>A (p.Ser136Asn) rs1557480827
NM_001048174.2(MUTYH):c.410C>T (p.Ala137Val) rs2149160813
NM_001048174.2(MUTYH):c.412T>C (p.Ser138Pro) rs1570427458
NM_001048174.2(MUTYH):c.418G>A (p.Glu140Lys) rs1553129230
NM_001048174.2(MUTYH):c.419A>G (p.Glu140Gly) rs2149160660
NM_001048174.2(MUTYH):c.420+27A>G rs2149160071
NM_001048174.2(MUTYH):c.420+3G>A rs2149160561
NM_001048174.2(MUTYH):c.420+5G>A
NM_001048174.2(MUTYH):c.420+5G>C
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=) rs876658641
NM_001048174.2(MUTYH):c.421-3C>T rs2149159013
NM_001048174.2(MUTYH):c.421-6C>G rs1645204406
NM_001048174.2(MUTYH):c.421G>A (p.Glu141Lys) rs1553129083
NM_001048174.2(MUTYH):c.421G>C (p.Glu141Gln) rs1553129083
NM_001048174.2(MUTYH):c.422A>C (p.Glu141Ala) rs1553129078
NM_001048174.2(MUTYH):c.424G>A (p.Val142Met) rs786203212
NM_001048174.2(MUTYH):c.428A>G (p.Asn143Ser) rs587781528
NM_001048174.2(MUTYH):c.433C>G (p.Leu145Val)
NM_001048174.2(MUTYH):c.433C>T (p.Leu145Phe) rs1466705435
NM_001048174.2(MUTYH):c.436T>C (p.Trp146Arg) rs1404599487
NM_001048174.2(MUTYH):c.437G>C (p.Trp146Ser) rs1306473047
NM_001048174.2(MUTYH):c.439G>C (p.Ala147Pro) rs770478980
NM_001048174.2(MUTYH):c.442G>A (p.Gly148Ser)
NM_001048174.2(MUTYH):c.443G>A (p.Gly148Asp) rs1060501345
NM_001048174.2(MUTYH):c.443G>T (p.Gly148Val)
NM_001048174.2(MUTYH):c.449G>C (p.Gly150Ala) rs1553128962
NM_001048174.2(MUTYH):c.450CTA[3] (p.Tyr152dup) rs1645192232
NM_001048174.2(MUTYH):c.457T>A (p.Ser153Thr) rs769684812
NM_001048174.2(MUTYH):c.457T>C (p.Ser153Pro) rs769684812
NM_001048174.2(MUTYH):c.457T>G (p.Ser153Ala) rs769684812
NM_001048174.2(MUTYH):c.458C>T (p.Ser153Phe) rs876658906
NM_001048174.2(MUTYH):c.458_459delinsTC (p.Ser153Phe) rs1570422674
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly) rs747993448
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro) rs143353451
NM_001048174.2(MUTYH):c.463G>A (p.Gly155Ser) rs1645188053
NM_001048174.2(MUTYH):c.46G>T (p.Ala16Ser) rs1557492581
NM_001048174.2(MUTYH):c.472_473delinsTG (p.Leu158Trp) rs1060501337
NM_001048174.2(MUTYH):c.473T>G (p.Leu158Arg) rs1309501452
NM_001048174.2(MUTYH):c.476A>G (p.Gln159Arg) rs757503642
NM_001048174.2(MUTYH):c.477G>T (p.Gln159His)
NM_001048174.2(MUTYH):c.479A>T (p.Glu160Val) rs1553128788
NM_001048174.2(MUTYH):c.479_492+1del rs766553845
NM_001048174.2(MUTYH):c.47C>T (p.Ala16Val) rs1570465480
NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp) rs1335408660
NM_001048174.2(MUTYH):c.482G>A (p.Gly161Glu)
NM_001048174.2(MUTYH):c.484G>A (p.Ala162Thr) rs764458059
NM_001048174.2(MUTYH):c.484G>C (p.Ala162Pro) rs764458059
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser) rs764458059
NM_001048174.2(MUTYH):c.485C>T (p.Ala162Val) rs1553128757
NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly) rs761101420
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001048174.2(MUTYH):c.490A>G (p.Lys164Glu) rs1557478342
NM_001048174.2(MUTYH):c.492+6G>A rs762573043
NM_001048174.2(MUTYH):c.492+6G>T rs762573043
NM_001048174.2(MUTYH):c.492G>T (p.Lys164Asn) rs876660092
NM_001048174.2(MUTYH):c.493-3C>G
NM_001048174.2(MUTYH):c.493-3C>T
NM_001048174.2(MUTYH):c.493-5A>T rs758377868
NM_001048174.2(MUTYH):c.494T>C (p.Val165Ala) rs879254293
NM_001048174.2(MUTYH):c.496G>T (p.Val166Leu) rs1553128642
NM_001048174.2(MUTYH):c.49G>A (p.Ala17Thr) rs1553131489
NM_001048174.2(MUTYH):c.4A>T (p.Arg2Trp) rs1570466955
NM_001048174.2(MUTYH):c.502G>A (p.Glu168Lys) rs745921592
NM_001048174.2(MUTYH):c.502G>C (p.Glu168Gln) rs745921592
NM_001048174.2(MUTYH):c.508G>A (p.Gly170Arg)
NM_001048174.2(MUTYH):c.508G>C (p.Gly170Arg)
NM_001048174.2(MUTYH):c.509G>A (p.Gly170Glu) rs1645156886
NM_001048174.2(MUTYH):c.50C>A (p.Ala17Asp) rs1645573077
NM_001048174.2(MUTYH):c.511G>A (p.Gly171Ser) rs1645156181
NM_001048174.2(MUTYH):c.518T>C (p.Met173Thr) rs1553128600
NM_001048174.2(MUTYH):c.518T>G (p.Met173Arg)
NM_001048174.2(MUTYH):c.519_520delinsAT (p.Met173_Pro174delinsIleSer) rs1553128595
NM_001048174.2(MUTYH):c.521C>T (p.Pro174Leu) rs778104957
NM_001048174.2(MUTYH):c.523C>G (p.Arg175Gly) rs587780748
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro) rs538383136
NM_001048174.2(MUTYH):c.524G>T (p.Arg175Leu) rs538383136
NM_001048174.2(MUTYH):c.527C>G (p.Thr176Arg) rs2149151950
NM_001048174.2(MUTYH):c.529G>A (p.Ala177Thr) rs759988845
NM_001048174.2(MUTYH):c.530C>T (p.Ala177Val) rs2149151820
NM_001048174.2(MUTYH):c.533A>G (p.Glu178Gly) rs1553128548
NM_001048174.2(MUTYH):c.534G>C (p.Glu178Asp) rs1645149413
NM_001048174.2(MUTYH):c.536C>A (p.Thr179Asn) rs749896967
NM_001048174.2(MUTYH):c.53G>T (p.Ser18Ile) rs786202903
NM_001048174.2(MUTYH):c.541C>A (p.Gln181Lys) rs2149151527
NM_001048174.2(MUTYH):c.544C>G (p.Gln182Glu)
NM_001048174.2(MUTYH):c.545A>G (p.Gln182Arg) rs1570416757
NM_001048174.2(MUTYH):c.548T>C (p.Leu183Pro)
NM_001048174.2(MUTYH):c.548T>G (p.Leu183Arg) rs1645145092
NM_001048174.2(MUTYH):c.551T>C (p.Leu184Pro) rs1570416435
NM_001048174.2(MUTYH):c.559G>C (p.Val187Leu) rs776487884
NM_001048174.2(MUTYH):c.55C>T (p.Gln19Ter) rs886046367
NM_001048174.2(MUTYH):c.565C>A (p.Arg189Ser) rs537292657
NM_001048174.2(MUTYH):c.568T>A (p.Tyr190Asn) rs745808534
NM_001048174.2(MUTYH):c.568T>C (p.Tyr190His) rs745808534
NM_001048174.2(MUTYH):c.569A>G (p.Tyr190Cys) rs1570415740
NM_001048174.2(MUTYH):c.56A>G (p.Gln19Arg) rs863224701
NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala) rs771064557
NM_001048174.2(MUTYH):c.571A>T (p.Thr191Ser) rs771064557
NM_001048174.2(MUTYH):c.574G>A (p.Ala192Thr) rs1489217206
NM_001048174.2(MUTYH):c.574G>C (p.Ala192Pro) rs1489217206
NM_001048174.2(MUTYH):c.578G>A (p.Gly193Glu) rs1064793779
NM_001048174.2(MUTYH):c.578G>C (p.Gly193Ala) rs1064793779
NM_001048174.2(MUTYH):c.57G>C (p.Gln19His)
NM_001048174.2(MUTYH):c.580G>A (p.Ala194Thr) rs1114167683
NM_001048174.2(MUTYH):c.581C>T (p.Ala194Val) rs1557476104
NM_001048174.2(MUTYH):c.586G>A (p.Ala196Thr) rs878854192
NM_001048174.2(MUTYH):c.586G>T (p.Ala196Ser) rs878854192
NM_001048174.2(MUTYH):c.58G>C (p.Glu20Gln) rs1557492431
NM_001048174.2(MUTYH):c.590C>G (p.Ser197Cys) rs1645132762
NM_001048174.2(MUTYH):c.596C>T (p.Ala199Val) rs11545695
NM_001048174.2(MUTYH):c.5G>A (p.Arg2Lys)
NM_001048174.2(MUTYH):c.604C>G (p.Gln202Glu) rs1064796630
NM_001048174.2(MUTYH):c.605A>G (p.Gln202Arg) rs1645128943
NM_001048174.2(MUTYH):c.605A>T (p.Gln202Leu)
NM_001048174.2(MUTYH):c.606+3G>C rs1553128340
NM_001048174.2(MUTYH):c.606G>C (p.Gln202His) rs199989617
NM_001048174.2(MUTYH):c.607-8T>A
NM_001048174.2(MUTYH):c.607G>A (p.Ala203Thr) rs2149146140
NM_001048174.2(MUTYH):c.608C>G (p.Ala203Gly) rs781551140
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser) rs587782351
NM_001048174.2(MUTYH):c.613G>A (p.Gly205Ser) rs377639760
NM_001048174.2(MUTYH):c.613G>C (p.Gly205Arg) rs377639760
NM_001048174.2(MUTYH):c.61G>A (p.Gly21Arg) rs876658745
NM_001048174.2(MUTYH):c.622G>T (p.Asp208Tyr)
NM_001048174.2(MUTYH):c.626G>A (p.Gly209Asp) rs1570409596
NM_001048174.2(MUTYH):c.629A>C (p.Asn210Thr) rs1057517765
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.631G>T (p.Val211Leu)
NM_001048174.2(MUTYH):c.635C>G (p.Ala212Gly)
NM_001048174.2(MUTYH):c.640G>A (p.Val214Met) rs769766446
NM_001048174.2(MUTYH):c.641T>C (p.Val214Ala) rs1645090735
NM_001048174.2(MUTYH):c.644T>C (p.Leu215Pro) rs1645090090
NM_001048174.2(MUTYH):c.644T>G (p.Leu215Arg) rs1645090090
NM_001048174.2(MUTYH):c.647G>A (p.Cys216Tyr) rs375346290
NM_001048174.2(MUTYH):c.647G>T (p.Cys216Phe) rs375346290
NM_001048174.2(MUTYH):c.650G>T (p.Arg217Leu)
NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile) rs587780749
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.653T>C (p.Val218Ala) rs864622114
NM_001048174.2(MUTYH):c.656G>T (p.Arg219Leu)
NM_001048174.2(MUTYH):c.659C>T (p.Ala220Val)
NM_001048174.2(MUTYH):c.65G>A (p.Arg22Lys) rs1376695165
NM_001048174.2(MUTYH):c.661A>T (p.Ile221Phe)
NM_001048174.2(MUTYH):c.662T>A (p.Ile221Asn)
NM_001048174.2(MUTYH):c.662T>G (p.Ile221Ser)
NM_001048174.2(MUTYH):c.664G>A (p.Gly222Ser) rs2149143906
NM_001048174.2(MUTYH):c.665G>A (p.Gly222Asp) rs587781529
NM_001048174.2(MUTYH):c.671A>G (p.Asp224Gly) rs876659465
NM_001048174.2(MUTYH):c.673C>A (p.Pro225Thr) rs2149143657
NM_001048174.2(MUTYH):c.674C>T (p.Pro225Leu)
NM_001048174.2(MUTYH):c.677G>C (p.Ser226Thr) rs754652471
NM_001048174.2(MUTYH):c.679A>G (p.Ser227Gly) rs1570407081
NM_001048174.2(MUTYH):c.680G>A (p.Ser227Asn) rs1553128005
NM_001048174.2(MUTYH):c.682A>G (p.Thr228Ala) rs1570406957
NM_001048174.2(MUTYH):c.683C>A (p.Thr228Asn) rs766173546
NM_001048174.2(MUTYH):c.683C>G (p.Thr228Ser) rs766173546
NM_001048174.2(MUTYH):c.688G>A (p.Val230Ile)
NM_001048174.2(MUTYH):c.694C>A (p.Gln232Lys) rs773087549
NM_001048174.2(MUTYH):c.697C>A (p.Gln233Lys) rs1645074800
NM_001048174.2(MUTYH):c.699G>C (p.Gln233His) rs765339120
NM_001048174.2(MUTYH):c.699G>T (p.Gln233His) rs765339120
NM_001048174.2(MUTYH):c.700C>G (p.Leu234Val)
NM_001048174.2(MUTYH):c.701T>G (p.Leu234Arg) rs2149142810
NM_001048174.2(MUTYH):c.702C>T (p.Leu234=) rs863224699
NM_001048174.2(MUTYH):c.703T>C (p.Trp235Arg) rs1557472871
NM_001048174.2(MUTYH):c.704+12G>A
NM_001048174.2(MUTYH):c.704+3A>G
NM_001048174.2(MUTYH):c.705-3T>C
NM_001048174.2(MUTYH):c.707G>A (p.Gly236Asp) rs1570404090
NM_001048174.2(MUTYH):c.707G>T (p.Gly236Val) rs1570404090
NM_001048174.2(MUTYH):c.709C>G (p.Leu237Val) rs878854194
NM_001048174.2(MUTYH):c.713C>T (p.Ala238Val) rs750344996
NM_001048174.2(MUTYH):c.716A>C (p.Gln239Pro) rs1553127846
NM_001048174.2(MUTYH):c.719A>C (p.Gln240Pro) rs1645052808
NM_001048174.2(MUTYH):c.71A>G (p.Lys24Arg) rs1570464856
NM_001048174.2(MUTYH):c.721_726del (p.Leu241_Val242del) rs2149140459
NM_001048174.2(MUTYH):c.724G>C (p.Val242Leu) rs765046399
NM_001048174.2(MUTYH):c.725T>A (p.Val242Glu) rs1331273811
NM_001048174.2(MUTYH):c.727G>A (p.Asp243Asn)
NM_001048174.2(MUTYH):c.72G>T (p.Lys24Asn)
NM_001048174.2(MUTYH):c.730C>G (p.Pro244Ala)
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser) rs786201772
NM_001048174.2(MUTYH):c.733G>C (p.Ala245Pro) rs1645047324
NM_001048174.2(MUTYH):c.733G>T (p.Ala245Ser)
NM_001048174.2(MUTYH):c.734C>T (p.Ala245Val) rs1553127798
NM_001048174.2(MUTYH):c.739C>A (p.Pro247Thr) rs2149139904
NM_001048174.2(MUTYH):c.73_81dup (p.Lys27_Asn28insHisAlaLys)
NM_001048174.2(MUTYH):c.740_745dup (p.Gly248_Asp249insAlaGly)
NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu) rs1557471507
NM_001048174.2(MUTYH):c.745G>A (p.Asp249Asn) rs1553127779
NM_001048174.2(MUTYH):c.745G>T (p.Asp249Tyr) rs1553127779
NM_001048174.2(MUTYH):c.74A>G (p.His25Arg) rs2149187814
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser) rs587778534
NM_001048174.2(MUTYH):c.753C>A (p.Asn251Lys) rs587781953
NM_001048174.2(MUTYH):c.755A>C (p.Gln252Pro) rs2149139623
NM_001048174.2(MUTYH):c.758C>G (p.Ala253Gly) rs1060501329
NM_001048174.2(MUTYH):c.760G>A (p.Ala254Thr) rs1570402446
NM_001048174.2(MUTYH):c.763A>C (p.Met255Leu) rs876659676
NM_001048174.2(MUTYH):c.763A>T (p.Met255Leu) rs876659676
NM_001048174.2(MUTYH):c.764T>C (p.Met255Thr) rs1060501327
NM_001048174.2(MUTYH):c.769C>G (p.Leu257Val) rs1570402068
NM_001048174.2(MUTYH):c.76G>C (p.Ala26Pro) rs1432929984
NM_001048174.2(MUTYH):c.770T>G (p.Leu257Arg) rs2149139156
NM_001048174.2(MUTYH):c.772G>A (p.Gly258Arg) rs772540425
NM_001048174.2(MUTYH):c.773G>T (p.Gly258Val) rs730881833
NM_001048174.2(MUTYH):c.775G>A (p.Ala259Thr) rs786204085
NM_001048174.2(MUTYH):c.778A>G (p.Thr260Ala) rs587778535
NM_001048174.2(MUTYH):c.77C>A (p.Ala26Asp) rs1060501338
NM_001048174.2(MUTYH):c.780A>G (p.Thr260=) rs1557470829
NM_001048174.2(MUTYH):c.781G>A (p.Val261Met)
NM_001048174.2(MUTYH):c.782_790del (p.Val261_Pro264delinsAla) rs1570400946
NM_001048174.2(MUTYH):c.785G>A (p.Cys262Tyr) rs1064795466
NM_001048174.2(MUTYH):c.787A>G (p.Thr263Ala) rs1570401055
NM_001048174.2(MUTYH):c.790C>G (p.Pro264Ala) rs587781949
NM_001048174.2(MUTYH):c.790C>T (p.Pro264Ser) rs587781949
NM_001048174.2(MUTYH):c.791C>A (p.Pro264Gln) rs780500491
NM_001048174.2(MUTYH):c.791C>T (p.Pro264Leu) rs780500491
NM_001048174.2(MUTYH):c.794A>G (p.Gln265Arg)
NM_001048174.2(MUTYH):c.799C>T (p.Pro267Ser) rs1553127634
NM_001048174.2(MUTYH):c.805T>A (p.Cys269Ser) rs1645027632
NM_001048174.2(MUTYH):c.806G>A (p.Cys269Tyr) rs879254257
NM_001048174.2(MUTYH):c.80A>G (p.Lys27Arg)
NM_001048174.2(MUTYH):c.810C>G (p.Ser270Arg) rs937766053
NM_001048174.2(MUTYH):c.815G>T (p.Cys272Phe) rs1645025596
NM_001048174.2(MUTYH):c.816C>G (p.Cys272Trp) rs753883191
NM_001048174.2(MUTYH):c.818_835dup (p.Pro273_Cys278dup) rs1645020416
NM_001048174.2(MUTYH):c.820G>A (p.Val274Met) rs760889663
NM_001048174.2(MUTYH):c.824A>G (p.Glu275Gly) rs2149137337
NM_001048174.2(MUTYH):c.826A>G (p.Ser276Gly) rs2149137273
NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn) rs1553127574
NM_001048174.2(MUTYH):c.827G>T (p.Ser276Ile) rs1553127574
NM_001048174.2(MUTYH):c.82A>C (p.Asn28His) rs2149187667
NM_001048174.2(MUTYH):c.832T>C (p.Cys278Arg)
NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) rs786204112
NM_001048174.2(MUTYH):c.833G>T (p.Cys278Phe) rs786204112
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.835C>G (p.Arg279Gly) rs759822330
NM_001048174.2(MUTYH):c.835_836delinsAT (p.Arg279Met) rs1645019518
NM_001048174.2(MUTYH):c.838G>A (p.Ala280Thr)
NM_001048174.2(MUTYH):c.83ACA[1] (p.Asn29del) rs1645564054
NM_001048174.2(MUTYH):c.842G>T (p.Arg281Leu) rs587782727
NM_001048174.2(MUTYH):c.845A>C (p.Gln282Pro)
NM_001048174.2(MUTYH):c.845A>G (p.Gln282Arg) rs2149136707
NM_001048174.2(MUTYH):c.849+5G>T
NM_001048174.2(MUTYH):c.849+6C>A rs1570398280
NM_001048174.2(MUTYH):c.849A>G (p.Arg283=) rs369973885
NM_001048174.2(MUTYH):c.84C>G (p.Asn28Lys) rs200514222
NM_001048174.2(MUTYH):c.850-10T>A rs1570396447
NM_001048174.2(MUTYH):c.850-20C>G
NM_001048174.2(MUTYH):c.850G>A (p.Val284Met) rs1570396086
NM_001048174.2(MUTYH):c.851T>C (p.Val284Ala)
NM_001048174.2(MUTYH):c.854A>T (p.Glu285Val) rs1644998333
NM_001048174.2(MUTYH):c.855G>T (p.Glu285Asp)
NM_001048174.2(MUTYH):c.859G>A (p.Glu287Lys) rs1644997083
NM_001048174.2(MUTYH):c.85_90del (p.Asn29_Ser30del)
NM_001048174.2(MUTYH):c.860A>G (p.Glu287Gly) rs1557468846
NM_001048174.2(MUTYH):c.862C>G (p.Gln288Glu) rs1423565685
NM_001048174.2(MUTYH):c.865C>T (p.Leu289Phe) rs1644995145
NM_001048174.2(MUTYH):c.866T>C (p.Leu289Pro) rs878854195
NM_001048174.2(MUTYH):c.868T>G (p.Leu290Val) rs2149134539
NM_001048174.2(MUTYH):c.86A>G (p.Asn29Ser)
NM_001048174.2(MUTYH):c.870A>C (p.Leu290Phe) rs1553127406
NM_001048174.2(MUTYH):c.872C>T (p.Ala291Val) rs1570395209
NM_001048174.2(MUTYH):c.875C>T (p.Ser292Leu) rs1553127397
NM_001048174.2(MUTYH):c.877G>C (p.Gly293Arg) rs765686051
NM_001048174.2(MUTYH):c.881G>A (p.Ser294Asn) rs587781810
NM_001048174.2(MUTYH):c.881G>C (p.Ser294Thr) rs587781810
NM_001048174.2(MUTYH):c.882C>A (p.Ser294Arg) rs138833473
NM_001048174.2(MUTYH):c.882C>G (p.Ser294Arg) rs138833473
NM_001048174.2(MUTYH):c.88A>T (p.Ser30Cys) rs2149187418
NM_001048174.2(MUTYH):c.893G>A (p.Ser298Asn)
NM_001048174.2(MUTYH):c.893G>T (p.Ser298Ile)
NM_001048174.2(MUTYH):c.895C>T (p.Pro299Ser) rs867991237
NM_001048174.2(MUTYH):c.900C>A (p.Asp300Glu) rs587780752
NM_001048174.2(MUTYH):c.901G>C (p.Val301Leu) rs147718169
NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu) rs147718169
NM_001048174.2(MUTYH):c.904G>A (p.Glu302Lys) rs1570394120
NM_001048174.2(MUTYH):c.906G>T (p.Glu302Asp) rs1553127290
NM_001048174.2(MUTYH):c.907G>A (p.Glu303Lys)
NM_001048174.2(MUTYH):c.908A>G (p.Glu303Gly)
NM_001048174.2(MUTYH):c.909G>T (p.Glu303Asp) rs376830217
NM_001048174.2(MUTYH):c.910T>A (p.Cys304Ser)
NM_001048174.2(MUTYH):c.910T>C (p.Cys304Arg)
NM_001048174.2(MUTYH):c.913+3G>T rs864622394
NM_001048174.2(MUTYH):c.913+4A>G
NM_001048174.2(MUTYH):c.913+5G>A rs1553127245
NM_001048174.2(MUTYH):c.913+84G>T
NM_001048174.2(MUTYH):c.914-10C>G rs2149130507
NM_001048174.2(MUTYH):c.914-3C>T
NM_001048174.2(MUTYH):c.914-7T>A rs1644941284
NM_001048174.2(MUTYH):c.914-8_914-4del rs1644940240
NM_001048174.2(MUTYH):c.914C>G (p.Ala305Gly) rs1374768333
NM_001048174.2(MUTYH):c.914C>T (p.Ala305Val) rs1374768333
NM_001048174.2(MUTYH):c.916C>A (p.Pro306Thr) rs587778537
NM_001048174.2(MUTYH):c.916C>T (p.Pro306Ser) rs587778537
NM_001048174.2(MUTYH):c.917C>T (p.Pro306Leu) rs1553127049
NM_001048174.2(MUTYH):c.919A>G (p.Asn307Asp) rs1570388553
NM_001048174.2(MUTYH):c.920A>G (p.Asn307Ser) rs765808018
NM_001048174.2(MUTYH):c.922A>G (p.Thr308Ala) rs1553127030
NM_001048174.2(MUTYH):c.925G>A (p.Gly309Arg) rs587782438
NM_001048174.2(MUTYH):c.92A>G (p.Gln31Arg) rs1557491929
NM_001048174.2(MUTYH):c.931T>C (p.Cys311Arg) rs1570387815
NM_001048174.2(MUTYH):c.932G>A (p.Cys311Tyr) rs2149129573
NM_001048174.2(MUTYH):c.936C>G (p.His312Gln)
NM_001048174.2(MUTYH):c.941G>A (p.Cys314Tyr)
NM_001048174.2(MUTYH):c.944T>C (p.Leu315Pro) rs1553126942
NM_001048174.2(MUTYH):c.947C>T (p.Pro316Leu) rs1644929092
NM_001048174.2(MUTYH):c.950C>A (p.Pro317His) rs2149129071
NM_001048174.2(MUTYH):c.950C>T (p.Pro317Leu)
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_001048174.2(MUTYH):c.956A>G (p.Glu319Gly)
NM_001048174.2(MUTYH):c.961T>A (p.Trp321Arg) rs1557465355
NM_001048174.2(MUTYH):c.964G>A (p.Asp322Asn)
NM_001048174.2(MUTYH):c.966C>A (p.Asp322Glu) rs772199096
NM_001048174.2(MUTYH):c.966C>G (p.Asp322Glu)
NM_001048174.2(MUTYH):c.971C>A (p.Thr324Asn) rs587781703
NM_001048174.2(MUTYH):c.971C>T (p.Thr324Ile) rs587781703
NM_001048174.2(MUTYH):c.97A>C (p.Lys33Gln) rs1645561128
NM_001048174.2(MUTYH):c.982G>A (p.Val328Ile) rs966143902
NM_001048174.2(MUTYH):c.983T>G (p.Val328Gly) rs1644920219
NM_001048174.2(MUTYH):c.987C>A (p.Asn329Lys)
NM_001048174.2(MUTYH):c.988T>G (p.Phe330Val) rs587781601
NM_001048174.2(MUTYH):c.989T>A (p.Phe330Tyr) rs1553126738
NM_001048174.2(MUTYH):c.991C>T (p.Pro331Ser)
NM_001048174.2(MUTYH):c.994A>G (p.Arg332Gly) rs2149127726
NM_001048174.2(MUTYH):c.995G>C (p.Arg332Thr) rs786202371
NM_001048174.2(MUTYH):c.99G>T (p.Lys33Asn) rs375084663
NM_001077365.2(POMT1):c.*330G>A rs556148765
NM_001077365.2(POMT1):c.*370C>G rs1950358020
NM_001077365.2(POMT1):c.*381G>A rs57955153
NM_001077365.2(POMT1):c.-83C>T rs550740786
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu) rs1292313849
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser) rs2131707245
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=) rs766759606
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp) rs2131555907
NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=) rs1588427953
NM_001077365.2(POMT1):c.1181A>G (p.Asp394Gly) rs2131748341
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser) rs1948110753
NM_001077365.2(POMT1):c.1252G>T (p.Ala418Ser) rs142057517
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
NM_001077365.2(POMT1):c.1273-11del
NM_001077365.2(POMT1):c.1273-17G>C
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=) rs1949210371
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu) rs2131848570
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
NM_001077365.2(POMT1):c.1348A>T (p.Thr450Ser) rs2131848872
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg) rs746412899
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) rs1347678628
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) rs376126988
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp) rs770668718
NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp) rs1945758260
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val) rs1949310812
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala) rs1949313840
NM_001077365.2(POMT1):c.1441C>A (p.His481Asn)
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del) rs1949322859
NM_001077365.2(POMT1):c.1469A>C (p.Glu490Ala) rs2131857011
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu) rs761439623
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys) rs2131866665
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) rs1949610411
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg) rs1588482215
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg) rs2131881044
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1664C>T (p.Thr555Ile)
NM_001077365.2(POMT1):c.1667A>G (p.Asn556Ser)
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1698+2dup
NM_001077365.2(POMT1):c.1699-11T>G
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1825+3_1825+16del
NM_001077365.2(POMT1):c.1825+4A>C
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
NM_001077365.2(POMT1):c.183G>A (p.Leu61=) rs1945769344
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) rs1322926242
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu) rs2131922893
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg) rs775109154
NM_001077365.2(POMT1):c.1985T>A (p.Ile662Asn) rs2131923569
NM_001077365.2(POMT1):c.2000G>A (p.Cys667Tyr) rs1219770866
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=) rs985023011
NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.2053T>A (p.Ser685Thr) rs1588513928
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser) rs1945776583
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2068G>T (p.Val690Leu)
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2093C>T (p.Thr698Ile)
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) rs912556508
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe) rs2131946967
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr) rs147143094
NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
NM_001077365.2(POMT1):c.295G>A (p.Val99Met) rs1449103987
NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
NM_001077365.2(POMT1):c.418A>G (p.Met140Val) rs2131607251
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) rs770239141
NM_001077365.2(POMT1):c.540-3C>T
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met) rs2131641762
NM_001077365.2(POMT1):c.605+4A>G
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.687G>C (p.Gln229His) rs1946741782
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+14T>G rs370038491
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.699+26T>G rs2131645042
NM_001077365.2(POMT1):c.699+40A>G
NM_001077365.2(POMT1):c.699+49A>T
NM_001077365.2(POMT1):c.699+5G>T
NM_001077365.2(POMT1):c.699+64G>C rs746958804
NM_001077365.2(POMT1):c.699+66G>T
NM_001077365.2(POMT1):c.699+6T>G
NM_001077365.2(POMT1):c.724G>T (p.Ala242Ser) rs779771679
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg) rs1946833127
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu) rs1947076473
NM_001077365.2(POMT1):c.879G>T (p.Gln293His) rs1947080431
NM_001077365.2(POMT1):c.880G>A (p.Gly294Ser) rs145395372
NM_001077365.2(POMT1):c.881G>A (p.Gly294Asp) rs1947081771
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln) rs2131555430
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) rs2131673494
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
NM_001077418.3(TMEM231):c.-16C>A
NM_001077418.3(TMEM231):c.-17G>T rs768513169
NM_001077418.3(TMEM231):c.-22G>C
NM_001077418.3(TMEM231):c.-25C>T
NM_001077418.3(TMEM231):c.-38T>C rs758946916
NM_001077418.3(TMEM231):c.-41A>C rs765256905
NM_001077418.3(TMEM231):c.-8C>T rs780752063
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
NM_001077418.3(TMEM231):c.139+14G>A
NM_001077418.3(TMEM231):c.139+28G>A rs370005084
NM_001077418.3(TMEM231):c.139+44G>T
NM_001077418.3(TMEM231):c.140-10T>C rs2151710900
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.140-39G>A
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu) rs2151710882
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys) rs772102451
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp) rs1350319069
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val) rs2151710764
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val) rs2080804915
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn) rs753709447
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile) rs2151710524
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.310-18C>T
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly) rs1415195367
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) rs1202833405
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
NM_001077418.3(TMEM231):c.438+3G>A rs1183368030
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg) rs2080678228
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe) rs1280264089
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu) rs2151702535
NM_001077418.3(TMEM231):c.583-3C>G
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) rs2080639506
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
NM_001077418.3(TMEM231):c.664+1G>A
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu) rs397514753
NM_001077418.3(TMEM231):c.665-19_665-13del
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val) rs1567441268
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr) rs139236786
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu) rs1277858041
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G rs2080625882
NM_001077418.3(TMEM231):c.770+6C>G
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) rs758048238
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) rs2151697774
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr) rs2151697600
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267
NM_001079827.2(CLRN2):c.236G>T (p.Arg79Leu) rs200144103
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) rs2106333049
NM_001080414.4(CCDC88C):c.161+5G>A rs1887078001
NM_001080414.4(CCDC88C):c.3072C>A (p.Phe1024Leu) rs762288121
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) rs1407640264
NM_001080414.4(CCDC88C):c.3647T>G (p.Met1216Arg) rs1891200660
NM_001080449.3(DNA2):c.2156G>T (p.Arg719Ile) rs2051805505
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr) rs759464271
NM_001080449.3(DNA2):c.916A>T (p.Asn306Tyr) rs2133413753
NM_001080476.3(GRXCR1):c.385-7C>T rs748066741
NM_001080476.3(GRXCR1):c.604T>C (p.Phe202Leu) rs886059418
NM_001080476.3(GRXCR1):c.745C>G (p.Pro249Ala) rs886059419
NM_001080476.3(GRXCR1):c.858G>T (p.Lys286Asn) rs886059420
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del) rs773937309
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys) rs2077335572
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr) rs138247613
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val) rs1395171597
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001083961.2(WDR62):c.*45G>A rs769679657
NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)
NM_001083961.2(WDR62):c.1129G>T (p.Val377Leu) rs761204875
NM_001083961.2(WDR62):c.1138G>A (p.Asp380Asn) rs755050401
NM_001083961.2(WDR62):c.1183G>A (p.Gly395Ser) rs1971408601
NM_001083961.2(WDR62):c.1487G>A (p.Arg496Gln)
NM_001083961.2(WDR62):c.1489G>A (p.Val497Ile) rs886054358
NM_001083961.2(WDR62):c.1535G>T (p.Arg512Leu) rs375417358
NM_001083961.2(WDR62):c.1598A>G (p.His533Arg) rs1972100904
NM_001083961.2(WDR62):c.159G>A (p.Glu53=) rs1970284041
NM_001083961.2(WDR62):c.1669C>T (p.Arg557Trp)
NM_001083961.2(WDR62):c.1681A>T (p.Ile561Phe) rs587784545
NM_001083961.2(WDR62):c.1750A>C (p.Thr584Pro) rs76456648
NM_001083961.2(WDR62):c.1836+15C>A rs1972432279
NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)
NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)
NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)
NM_001083961.2(WDR62):c.242G>A (p.Gly81Asp)
NM_001083961.2(WDR62):c.2584G>T (p.Gly862Cys) rs587784548
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001083961.2(WDR62):c.2624C>T (p.Thr875Ile) rs749258743
NM_001083961.2(WDR62):c.2728C>A (p.Leu910Met) rs1279068945
NM_001083961.2(WDR62):c.272G>A (p.Cys91Tyr) rs1970561947
NM_001083961.2(WDR62):c.2782C>T (p.Leu928=) rs12610991
NM_001083961.2(WDR62):c.2787C>T (p.Pro929=) rs886054359
NM_001083961.2(WDR62):c.2945G>A (p.Ser982Asn) rs11540047
NM_001083961.2(WDR62):c.3073del (p.His1025fs) rs1372708280
NM_001083961.2(WDR62):c.3083-2A>T
NM_001083961.2(WDR62):c.3121G>A (p.Glu1041Lys)
NM_001083961.2(WDR62):c.3220+4G>C rs199678831
NM_001083961.2(WDR62):c.3221-13G>T rs753800840
NM_001083961.2(WDR62):c.3221-15G>A rs766253275
NM_001083961.2(WDR62):c.32G>C (p.Arg11Pro) rs587784552
NM_001083961.2(WDR62):c.3336-6C>G
NM_001083961.2(WDR62):c.3360G>A (p.Arg1120=) rs886054361
NM_001083961.2(WDR62):c.3406C>G (p.Arg1136Gly) rs587784556
NM_001083961.2(WDR62):c.3948G>A (p.Gln1316=) rs4375791
NM_001083961.2(WDR62):c.3950C>T (p.Pro1317Leu) rs772328050
NM_001083961.2(WDR62):c.423T>C (p.Asp141=) rs1174425209
NM_001083961.2(WDR62):c.4283T>C (p.Phe1428Ser) rs1599851829
NM_001083961.2(WDR62):c.4312-1G>C rs1973640822
NM_001083961.2(WDR62):c.4381T>G (p.Trp1461Gly) rs61734910
NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln) rs2145889410
NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)
NM_001083961.2(WDR62):c.570C>T (p.Ile190=) rs374729985
NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)
NM_001083961.2(WDR62):c.64A>C (p.Met22Leu) rs1970273180
NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)
NM_001083961.2(WDR62):c.699+11G>C rs886054356
NM_001083961.2(WDR62):c.75dup (p.Pro26fs) rs1568560516
NM_001083961.2(WDR62):c.803G>C (p.Ser268Thr) rs756848014
NM_001083961.2(WDR62):c.821A>G (p.Tyr274Cys) rs886054357
NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly) rs200283315
NM_001083961.2(WDR62):c.964G>C (p.Ala322Pro) rs587784561
NM_001098484.3(SLC4A4):c.*1028A>G rs867289166
NM_001098484.3(SLC4A4):c.*1450C>T rs886059605
NM_001098484.3(SLC4A4):c.*1617C>A rs886059606
NM_001098484.3(SLC4A4):c.*1821del rs886059608
NM_001098484.3(SLC4A4):c.*2126A>G rs1737801354
NM_001098484.3(SLC4A4):c.*2184C>T rs886059610
NM_001098484.3(SLC4A4):c.*2281dup rs569665634
NM_001098484.3(SLC4A4):c.*26G>A rs200777620
NM_001098484.3(SLC4A4):c.*26G>T rs200777620
NM_001098484.3(SLC4A4):c.*3016T>C rs1737886382
NM_001098484.3(SLC4A4):c.*3080T>C rs886059615
NM_001098484.3(SLC4A4):c.*3574A>G rs1737924001
NM_001098484.3(SLC4A4):c.*3615C>T rs886059616
NM_001098484.3(SLC4A4):c.*3747G>A rs886059618
NM_001098484.3(SLC4A4):c.*517G>A rs886059599
NM_001098484.3(SLC4A4):c.*552A>C rs553403475
NM_001098484.3(SLC4A4):c.*748T>C rs1217826942
NM_001098484.3(SLC4A4):c.*815C>T rs886059601
NM_001098484.3(SLC4A4):c.*880T>A rs748345541
NM_001098484.3(SLC4A4):c.*989T>C rs34921070
NM_001098484.3(SLC4A4):c.1132A>C (p.Ile378Leu) rs886059595
NM_001098484.3(SLC4A4):c.1235A>G (p.Asn412Ser) rs886059596
NM_001098484.3(SLC4A4):c.254-187G>A rs1728681523
NM_001098484.3(SLC4A4):c.2547T>G (p.Ile849Met) rs1735529581
NM_001098484.3(SLC4A4):c.2612T>G (p.Leu871Arg) rs1735535325
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His) rs1736599400
NM_001098484.3(SLC4A4):c.290G>A (p.Gly97Glu) rs781030949
NM_001098484.3(SLC4A4):c.2951T>C (p.Val984Ala)
NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr) rs1737540024
NM_001098484.3(SLC4A4):c.390-5C>T rs181184794
NM_001098484.3(SLC4A4):c.808-4G>T rs886059594
NM_001098484.3(SLC4A4):c.915A>G (p.Leu305=) rs776706481
NM_001099287.1(NIPAL4):c.63G>A (p.Leu21=) rs886060336
NM_001099287.2(NIPAL4):c.*1208T>C rs1754520474
NM_001099287.2(NIPAL4):c.*135T>C rs1011045044
NM_001099287.2(NIPAL4):c.*1392GAA[1] rs886060346
NM_001099287.2(NIPAL4):c.*1494_*1499dup rs565912301
NM_001099287.2(NIPAL4):c.*1706C>A rs886060350
NM_001099287.2(NIPAL4):c.*227_*228delinsAG rs886060340
NM_001099287.2(NIPAL4):c.*385CCT[1] rs886060341
NM_001099287.2(NIPAL4):c.*405GTT[8] rs527401652
NM_001099287.2(NIPAL4):c.*576G>C rs1754500956
NM_001099287.2(NIPAL4):c.*874_*878del rs751375892
NM_001099287.2(NIPAL4):c.*903G>A rs148733170
NM_001099287.2(NIPAL4):c.*97A>G rs542842127
NM_001099287.2(NIPAL4):c.1057G>A (p.Ala353Thr) rs367993555
NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser) rs367993555
NM_001099287.2(NIPAL4):c.145A>C (p.Arg49=) rs886060337
NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val) rs1754294654
NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=) rs375721791
NM_001099287.2(NIPAL4):c.783C>A (p.His261Gln) rs886060338
NM_001099287.2(NIPAL4):c.828C>T (p.Ser276=) rs886060339
NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His) rs2113670374
NM_001099287.2(NIPAL4):c.872C>T (p.Thr291Ile) rs772312298
NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile) rs1173787317
NM_001101426.4(CRPPA):c.-14_10del (p.Met1_Gly4del)
NM_001101426.4(CRPPA):c.101G>A (p.Ser34Asn)
NM_001101426.4(CRPPA):c.1026+5G>C rs762349005
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val) rs1583472575
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn) rs2128412318
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
NM_001101426.4(CRPPA):c.1119+3A>G rs1783701192
NM_001101426.4(CRPPA):c.1120-3C>G
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) rs1391543167
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile) rs747075828
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His) rs758393771
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg) rs1782301148
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly) rs957843384
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe) rs931469039
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) rs1415518757
NM_001101426.4(CRPPA):c.1252-3C>T rs2128361106
NM_001101426.4(CRPPA):c.1252G>T (p.Asp418Tyr) rs1781843954
NM_001101426.4(CRPPA):c.1272G>C (p.Glu424Asp) rs2064970438
NM_001101426.4(CRPPA):c.1275T>A (p.Ser425Arg) rs1781843424
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) rs1781841345
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.172G>A (p.Glu58Lys)
NM_001101426.4(CRPPA):c.178A>T (p.Met60Leu)
NM_001101426.4(CRPPA):c.181G>C (p.Gly61Arg)
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
NM_001101426.4(CRPPA):c.21_44del (p.Ser8_Gly15del)
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly) rs1788324318
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met) rs1292380177
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro) rs949985964
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg) rs949985964
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser) rs2128321450
NM_001101426.4(CRPPA):c.258-3T>G rs899936625
NM_001101426.4(CRPPA):c.25G>A (p.Ala9Thr) rs909976918
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) rs1384501487
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys) rs1787953727
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) rs1190661385
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu) rs192925278
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp) rs1281479457
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val) rs2128318458
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del) rs990740417
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly) rs1472549168
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr) rs2128318452
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser) rs1787948983
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) rs1554363950
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys) rs1314652586
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) rs573488291
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile) rs2128318425
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile) rs762819997
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys) rs2128318414
NM_001101426.4(CRPPA):c.52C>G (p.Leu18Val) rs886043287
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=) rs200798632
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) rs370499190
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) rs1786881434
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser) rs1275411039
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) rs1198960792
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala) rs2128312067
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) rs1786876478
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly) rs769223335
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) rs1786875241
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr) rs2128424737
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His) rs1784967390
NM_001101426.4(CRPPA):c.6G>T (p.Glu2Asp) rs2128321553
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser) rs397515409
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe) rs1784965639
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg) rs1583508021
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala) rs2128424716
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro) rs886044190
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu) rs1784787407
NM_001101426.4(CRPPA):c.82G>C (p.Ala28Pro) rs2128321512
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn) rs1784249249
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) rs764380983
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys) rs373890080
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
NM_001101426.4(CRPPA):c.934-14T>A
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr) rs369141466
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu) rs376909665
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001103146.3(GIGYF2):c.532+5018dup rs746052279
NM_001103146.3(GIGYF2):c.532+6575_532+6576del rs758195599
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val) rs1697885743
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1009A>G (p.Met337Val)
NM_001111.5(ADAR):c.1025A>T (p.Asp342Val)
NM_001111.5(ADAR):c.1027G>A (p.Val343Ile)
NM_001111.5(ADAR):c.1034G>A (p.Arg345Lys)
NM_001111.5(ADAR):c.1041G>T (p.Gly347=) rs2101640517
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala) rs1456341426
NM_001111.5(ADAR):c.1042A>T (p.Thr348Ser) rs1456341426
NM_001111.5(ADAR):c.1046C>T (p.Thr349Ile)
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser) rs1557886901
NM_001111.5(ADAR):c.1055T>C (p.Ile352Thr)
NM_001111.5(ADAR):c.1056A>G (p.Ile352Met)
NM_001111.5(ADAR):c.1063T>A (p.Leu355Met)
NM_001111.5(ADAR):c.1072AAG[1] (p.Lys359del)
NM_001111.5(ADAR):c.1073A>G (p.Lys358Arg)
NM_001111.5(ADAR):c.107C>T (p.Pro36Leu)
NM_001111.5(ADAR):c.1081G>A (p.Glu361Lys)
NM_001111.5(ADAR):c.1085G>A (p.Arg362Lys) rs2101640193
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile) rs1697874197
NM_001111.5(ADAR):c.1099A>G (p.Arg367Gly)
NM_001111.5(ADAR):c.1103A>G (p.Asn368Ser)
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1106C>G (p.Thr369Arg) rs958924655
NM_001111.5(ADAR):c.1106C>T (p.Thr369Met) rs958924655
NM_001111.5(ADAR):c.1108A>G (p.Asn370Asp)
NM_001111.5(ADAR):c.110G>T (p.Ser37Ile)
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys) rs1222101959
NM_001111.5(ADAR):c.1112G>A (p.Ser371Asn)
NM_001111.5(ADAR):c.1126G>A (p.Ala376Thr)
NM_001111.5(ADAR):c.1126G>T (p.Ala376Ser)
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala) rs1571107810
NM_001111.5(ADAR):c.112A>T (p.Ser38Cys)
NM_001111.5(ADAR):c.1132G>T (p.Ala378Ser)
NM_001111.5(ADAR):c.1138A>G (p.Ile380Val)
NM_001111.5(ADAR):c.1146G>C (p.Glu382Asp)
NM_001111.5(ADAR):c.1154G>A (p.Arg385Lys)
NM_001111.5(ADAR):c.115T>G (p.Phe39Val) rs1697956017
NM_001111.5(ADAR):c.1163A>G (p.Glu388Gly)
NM_001111.5(ADAR):c.1168C>T (p.Leu390Phe)
NM_001111.5(ADAR):c.116T>G (p.Phe39Cys)
NM_001111.5(ADAR):c.1171A>G (p.Thr391Ala)
NM_001111.5(ADAR):c.1175G>A (p.Cys392Tyr)
NM_001111.5(ADAR):c.1178A>G (p.Asn393Ser) rs1697865468
NM_001111.5(ADAR):c.1180A>G (p.Ile394Val)
NM_001111.5(ADAR):c.1193A>G (p.Asn398Ser)
NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)
NM_001111.5(ADAR):c.1208T>C (p.Met403Thr) rs2101639346
NM_001111.5(ADAR):c.1209G>A (p.Met403Ile)
NM_001111.5(ADAR):c.1210G>A (p.Val404Ile)
NM_001111.5(ADAR):c.1211T>C (p.Val404Ala) rs2101639317
NM_001111.5(ADAR):c.1213A>G (p.Thr405Ala)
NM_001111.5(ADAR):c.1217C>G (p.Thr406Arg) rs1571107399
NM_001111.5(ADAR):c.1222A>G (p.Lys408Glu)
NM_001111.5(ADAR):c.1223A>G (p.Lys408Arg)
NM_001111.5(ADAR):c.122T>C (p.Leu41Pro)
NM_001111.5(ADAR):c.1232A>C (p.Asn411Thr)
NM_001111.5(ADAR):c.1241A>C (p.Glu414Ala)
NM_001111.5(ADAR):c.1246G>A (p.Val416Ile)
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe) rs1697861504
NM_001111.5(ADAR):c.1267C>G (p.Gln423Glu) rs1697861124
NM_001111.5(ADAR):c.1274C>T (p.Ala425Val)
NM_001111.5(ADAR):c.127C>G (p.Gln43Glu) rs1697954006
NM_001111.5(ADAR):c.1300C>G (p.Pro434Ala)
NM_001111.5(ADAR):c.1304C>T (p.Pro435Leu)
NM_001111.5(ADAR):c.130A>G (p.Ile44Val)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys) rs1571107070
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp) rs1274234563
NM_001111.5(ADAR):c.1319G>T (p.Gly440Val)
NM_001111.5(ADAR):c.1322C>T (p.Pro441Leu)
NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu) rs1697857226
NM_001111.5(ADAR):c.134A>T (p.Glu45Val)
NM_001111.5(ADAR):c.1370A>G (p.Asp457Gly)
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn) rs759763367
NM_001111.5(ADAR):c.1399C>T (p.Arg467Cys)
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser) rs761708272
NM_001111.5(ADAR):c.1405G>T (p.Ala469Ser) rs886045343
NM_001111.5(ADAR):c.142A>G (p.Lys48Glu)
NM_001111.5(ADAR):c.1437G>T (p.Met479Ile) rs2101638407
NM_001111.5(ADAR):c.1445T>C (p.Phe482Ser)
NM_001111.5(ADAR):c.1450A>G (p.Ser484Gly) rs886045342
NM_001111.5(ADAR):c.1454A>G (p.His485Arg)
NM_001111.5(ADAR):c.1462C>A (p.Pro488Thr)
NM_001111.5(ADAR):c.1465C>T (p.Arg489Trp)
NM_001111.5(ADAR):c.1466G>C (p.Arg489Pro)
NM_001111.5(ADAR):c.1468T>A (p.Cys490Ser)
NM_001111.5(ADAR):c.1472C>T (p.Ser491Leu)
NM_001111.5(ADAR):c.1475C>T (p.Pro492Leu) rs1697847597
NM_001111.5(ADAR):c.1478A>G (p.Tyr493Cys) rs1697847223
NM_001111.5(ADAR):c.1480A>G (p.Lys494Glu) rs2101638093
NM_001111.5(ADAR):c.1490C>T (p.Thr497Ile)
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
NM_001111.5(ADAR):c.15+4A>G rs2101670089
NM_001111.5(ADAR):c.15+6C>G
NM_001111.5(ADAR):c.15+6C>T rs1698312357
NM_001111.5(ADAR):c.1526T>C (p.Leu509Ser) rs1697844160
NM_001111.5(ADAR):c.1534G>A (p.Ala512Thr) rs2101637881
NM_001111.5(ADAR):c.1543G>A (p.Ala515Thr) rs200830156
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn) rs1457807318
NM_001111.5(ADAR):c.1565A>G (p.Asn522Ser)
NM_001111.5(ADAR):c.1569G>A (p.Met523Ile)
NM_001111.5(ADAR):c.1570A>G (p.Ile524Val)
NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg) rs770224427
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg) rs1571096481
NM_001111.5(ADAR):c.1631G>A (p.Arg544Gln)
NM_001111.5(ADAR):c.1634A>G (p.Glu545Gly)
NM_001111.5(ADAR):c.1636T>C (p.Phe546Leu)
NM_001111.5(ADAR):c.1645G>A (p.Ala549Thr) rs892495161
NM_001111.5(ADAR):c.1646C>G (p.Ala549Gly)
NM_001111.5(ADAR):c.1660A>G (p.Lys554Glu)
NM_001111.5(ADAR):c.1667T>C (p.Val556Ala)
NM_001111.5(ADAR):c.1679A>T (p.Asp560Val)
NM_001111.5(ADAR):c.1681G>A (p.Ala561Thr)
NM_001111.5(ADAR):c.1687A>C (p.Met563Leu)
NM_001111.5(ADAR):c.1687A>G (p.Met563Val)
NM_001111.5(ADAR):c.1696A>T (p.Met566Leu) rs777616553
NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys) rs1205545887
NM_001111.5(ADAR):c.1700C>G (p.Thr567Arg)
NM_001111.5(ADAR):c.1705C>G (p.Leu569Val)
NM_001111.5(ADAR):c.1735G>A (p.Gly579Arg) rs2101626436
NM_001111.5(ADAR):c.1739A>G (p.Lys580Arg)
NM_001111.5(ADAR):c.1740A>T (p.Lys580Asn) rs2101626421
NM_001111.5(ADAR):c.1749ATC[1] (p.Ser585del) rs17843870
NM_001111.5(ADAR):c.1754C>T (p.Ser585Phe)
NM_001111.5(ADAR):c.1757A>G (p.His586Arg)
NM_001111.5(ADAR):c.1760A>C (p.Tyr587Ser)
NM_001111.5(ADAR):c.1760A>T (p.Tyr587Phe) rs17843865
NM_001111.5(ADAR):c.1768G>C (p.Glu590Gln) rs772602893
NM_001111.5(ADAR):c.1774G>A (p.Glu592Lys)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+3A>G
NM_001111.5(ADAR):c.1785+4G>A rs1571095587
NM_001111.5(ADAR):c.1785G>A (p.Lys595=)
NM_001111.5(ADAR):c.1795_1806del (p.Ser599_Pro602del)
NM_001111.5(ADAR):c.17G>C (p.Gly6Ala)
NM_001111.5(ADAR):c.1820C>T (p.Thr607Ile)
NM_001111.5(ADAR):c.1824CTT[1] (p.Phe610del) rs759833046
NM_001111.5(ADAR):c.1825T>C (p.Phe609Leu)
NM_001111.5(ADAR):c.1826T>C (p.Phe609Ser)
NM_001111.5(ADAR):c.1833T>A (p.Ser611=)
NM_001111.5(ADAR):c.1835G>A (p.Gly612Glu)
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn) rs766823464
NM_001111.5(ADAR):c.1846G>T (p.Val616Phe) rs570647049
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr) rs776484151
NM_001111.5(ADAR):c.1871A>G (p.His624Arg) rs1423795702
NM_001111.5(ADAR):c.1874A>G (p.Lys625Arg)
NM_001111.5(ADAR):c.1888T>C (p.Cys630Arg)
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.1897C>G (p.Arg633Gly) rs1222149445
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg) rs886045341
NM_001111.5(ADAR):c.1912G>C (p.Glu638Gln)
NM_001111.5(ADAR):c.1916G>T (p.Gly639Val) rs979268518
NM_001111.5(ADAR):c.1924C>T (p.His642Tyr)
NM_001111.5(ADAR):c.1925A>G (p.His642Arg)
NM_001111.5(ADAR):c.1934+4T>C
NM_001111.5(ADAR):c.1934+8C>G
NM_001111.5(ADAR):c.1944C>T (p.Tyr648=)
NM_001111.5(ADAR):c.1946G>A (p.Cys649Tyr)
NM_001111.5(ADAR):c.1981A>C (p.Ser661Arg)
NM_001111.5(ADAR):c.1984G>A (p.Ala662Thr)
NM_001111.5(ADAR):c.1987C>T (p.Pro663Ser) rs763748775
NM_001111.5(ADAR):c.1993A>C (p.Lys665Gln)
NM_001111.5(ADAR):c.1999G>A (p.Val667Met)
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.2018C>A (p.Ala673Glu) rs2101620970
NM_001111.5(ADAR):c.2026G>A (p.Ala676Thr) rs2101620927
NM_001111.5(ADAR):c.202C>G (p.Leu68Val) rs1280361409
NM_001111.5(ADAR):c.2030T>C (p.Met677Thr)
NM_001111.5(ADAR):c.2034G>C (p.Lys678Asn)
NM_001111.5(ADAR):c.2035G>A (p.Ala679Thr)
NM_001111.5(ADAR):c.2051C>T (p.Ala684Val) rs776658787
NM_001111.5(ADAR):c.2054C>T (p.Thr685Ile)
NM_001111.5(ADAR):c.205C>T (p.Pro69Ser)
NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe) rs1697555171
NM_001111.5(ADAR):c.2071G>A (p.Asp691Asn)
NM_001111.5(ADAR):c.2080-11T>G
NM_001111.5(ADAR):c.2080-3T>C rs372190707
NM_001111.5(ADAR):c.2080-6C>T
NM_001111.5(ADAR):c.2082T>A (p.Pro694=)
NM_001111.5(ADAR):c.2083G>C (p.Glu695Gln) rs1329989151
NM_001111.5(ADAR):c.2086G>A (p.Gly696Ser)
NM_001111.5(ADAR):c.2087G>A (p.Gly696Asp)
NM_001111.5(ADAR):c.2089A>G (p.Met697Val) rs754593004
NM_001111.5(ADAR):c.2099A>G (p.Glu700Gly) rs527888465
NM_001111.5(ADAR):c.20A>G (p.Tyr7Cys)
NM_001111.5(ADAR):c.2104C>T (p.Leu702Phe) rs2101619925
NM_001111.5(ADAR):c.2108A>C (p.Asp703Ala) rs2101619884
NM_001111.5(ADAR):c.2112C>G (p.Asn704Lys)
NM_001111.5(ADAR):c.2115G>C (p.Leu705Phe)
NM_001111.5(ADAR):c.2122A>C (p.Met708Leu) rs548493468
NM_001111.5(ADAR):c.2130CAA[1] (p.Asn711del)
NM_001111.5(ADAR):c.2131A>C (p.Asn711His) rs2101619763
NM_001111.5(ADAR):c.214C>T (p.Arg72Trp)
NM_001111.5(ADAR):c.2156T>C (p.Leu719Pro)
NM_001111.5(ADAR):c.2158G>A (p.Val720Met)
NM_001111.5(ADAR):c.2158G>C (p.Val720Leu) rs759837017
NM_001111.5(ADAR):c.2179C>T (p.Pro727Ser) rs2101619511
NM_001111.5(ADAR):c.2191C>G (p.Leu731Val)
NM_001111.5(ADAR):c.2199G>T (p.Glu733Asp)
NM_001111.5(ADAR):c.2203G>A (p.Ala735Thr) rs2101619399
NM_001111.5(ADAR):c.2213A>G (p.His738Arg)
NM_001111.5(ADAR):c.2216G>A (p.Gly739Asp) rs2101619310
NM_001111.5(ADAR):c.221G>A (p.Arg74Lys)
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr) rs2101619298
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2270A>G (p.Lys757Arg) rs1159795340
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu) rs1181329844
NM_001111.5(ADAR):c.2282A>T (p.Gln761Leu)
NM_001111.5(ADAR):c.229G>A (p.Val77Ile)
NM_001111.5(ADAR):c.22T>A (p.Ser8Thr)
NM_001111.5(ADAR):c.2302T>C (p.Trp768Arg) rs1697065372
NM_001111.5(ADAR):c.2306T>A (p.Phe769Tyr)
NM_001111.5(ADAR):c.2321C>T (p.Ala774Val)
NM_001111.5(ADAR):c.232C>G (p.Leu78Val)
NM_001111.5(ADAR):c.2359G>A (p.Ala787Thr)
NM_001111.5(ADAR):c.2376G>T (p.Leu792Phe)
NM_001111.5(ADAR):c.2378T>C (p.Ile793Thr)
NM_001111.5(ADAR):c.2384A>G (p.Glu795Gly)
NM_001111.5(ADAR):c.2388C>A (p.Asn796Lys) rs1251582638
NM_001111.5(ADAR):c.2388C>G (p.Asn796Lys)
NM_001111.5(ADAR):c.2398G>A (p.Glu800Lys)
NM_001111.5(ADAR):c.2399A>G (p.Glu800Gly) rs1697057806
NM_001111.5(ADAR):c.2401C>G (p.Arg801Gly)
NM_001111.5(ADAR):c.2401C>T (p.Arg801Cys)
NM_001111.5(ADAR):c.2402G>A (p.Arg801His) rs1697057369
NM_001111.5(ADAR):c.2410T>A (p.Phe804Ile)
NM_001111.5(ADAR):c.2413A>G (p.Thr805Ala)
NM_001111.5(ADAR):c.2413A>T (p.Thr805Ser) rs1325328855
NM_001111.5(ADAR):c.2453C>G (p.Thr818Ser) rs2101588346
NM_001111.5(ADAR):c.2458CTC[2] (p.Leu822del)
NM_001111.5(ADAR):c.2467T>G (p.Ser823Ala)
NM_001111.5(ADAR):c.2476C>T (p.Pro826Ser)
NM_001111.5(ADAR):c.2488C>T (p.Pro830Ser)
NM_001111.5(ADAR):c.2489C>T (p.Pro830Leu) rs1232214809
NM_001111.5(ADAR):c.2497-3C>T
NM_001111.5(ADAR):c.2501C>T (p.Pro834Leu)
NM_001111.5(ADAR):c.2509G>A (p.Gly837Ser)
NM_001111.5(ADAR):c.2513G>C (p.Ser838Thr) rs2101585930
NM_001111.5(ADAR):c.2524G>C (p.Asp842His) rs2101585854
NM_001111.5(ADAR):c.2536A>G (p.Met846Val)
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val) rs2101585739
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser) rs1697011861
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)
NM_001111.5(ADAR):c.258G>C (p.Arg86Ser)
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)
NM_001111.5(ADAR):c.2597G>A (p.Arg866His) rs770937947
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val) rs748430309
NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr) rs2101585327
NM_001111.5(ADAR):c.261A>G (p.Gln87=)
NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg)
NM_001111.5(ADAR):c.2643G>C (p.Met881Ile)
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)
NM_001111.5(ADAR):c.2668+4A>G rs2101584990
NM_001111.5(ADAR):c.2668+6T>G
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)
NM_001111.5(ADAR):c.2699G>T (p.Ser900Ile) rs1415969306
NM_001111.5(ADAR):c.271A>G (p.Arg91Gly)
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser) rs1696974967
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)
NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr)
NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly) rs2101582935
NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)
NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln) rs754785131
NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu)
NM_001111.5(ADAR):c.2758A>G (p.Ile920Val)
NM_001111.5(ADAR):c.275G>T (p.Gly92Val)
NM_001111.5(ADAR):c.2762+6C>G rs371450928
NM_001111.5(ADAR):c.2762+9G>A
NM_001111.5(ADAR):c.2763-10_2763-7del rs2101579220
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln) rs1696926150
NM_001111.5(ADAR):c.2786A>C (p.Lys929Thr)
NM_001111.5(ADAR):c.2788T>C (p.Tyr930His)
NM_001111.5(ADAR):c.2795C>G (p.Ser932Cys) rs886082285
NM_001111.5(ADAR):c.2795C>T (p.Ser932Phe) rs886082285
NM_001111.5(ADAR):c.2798A>G (p.Gln933Arg) rs1696924755
NM_001111.5(ADAR):c.2799G>T (p.Gln933His)
NM_001111.5(ADAR):c.2803G>C (p.Ala935Pro) rs1435318350
NM_001111.5(ADAR):c.2824C>T (p.Pro942Ser) rs1054969472
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln) rs373564780
NM_001111.5(ADAR):c.2832G>T (p.Lys944Asn)
NM_001111.5(ADAR):c.283A>G (p.Arg95Gly)
NM_001111.5(ADAR):c.2840A>C (p.Glu947Ala)
NM_001111.5(ADAR):c.2842A>G (p.Lys948Glu) rs2101578630
NM_001111.5(ADAR):c.2872C>T (p.His958Tyr)
NM_001111.5(ADAR):c.2879A>G (p.Tyr960Cys)
NM_001111.5(ADAR):c.287G>C (p.Gly96Ala)
NM_001111.5(ADAR):c.287G>T (p.Gly96Val)
NM_001111.5(ADAR):c.2893C>T (p.Pro965Ser)
NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)
NM_001111.5(ADAR):c.289G>A (p.Val97Met)
NM_001111.5(ADAR):c.2908G>A (p.Ala970Thr)
NM_001111.5(ADAR):c.2912T>G (p.Leu971Arg)
NM_001111.5(ADAR):c.2926_2928del (p.Cys976del) rs2101576453
NM_001111.5(ADAR):c.292C>T (p.His98Tyr)
NM_001111.5(ADAR):c.2939C>T (p.Ala980Val)
NM_001111.5(ADAR):c.293A>G (p.His98Arg)
NM_001111.5(ADAR):c.2941A>G (p.Met981Val)
NM_001111.5(ADAR):c.2945A>C (p.Glu982Ala)
NM_001111.5(ADAR):c.2951C>G (p.Thr984Arg)
NM_001111.5(ADAR):c.2954A>G (p.Glu985Gly)
NM_001111.5(ADAR):c.2957C>T (p.Ser986Phe) rs777129140
NM_001111.5(ADAR):c.2959C>T (p.Arg987Cys)
NM_001111.5(ADAR):c.2963A>G (p.His988Arg)
NM_001111.5(ADAR):c.2966A>G (p.Tyr989Cys)
NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)
NM_001111.5(ADAR):c.3001C>T (p.Arg1001Cys)
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His) rs1571058184
NM_001111.5(ADAR):c.3007A>G (p.Lys1003Glu)
NM_001111.5(ADAR):c.3019+4A>G rs2101575711
NM_001111.5(ADAR):c.3020-10T>G
NM_001111.5(ADAR):c.3025G>T (p.Gly1009Cys) rs2101567036
NM_001111.5(ADAR):c.3029C>T (p.Thr1010Ile)
NM_001111.5(ADAR):c.303T>G (p.Ser101Arg)
NM_001111.5(ADAR):c.3049G>A (p.Asp1017Asn)
NM_001111.5(ADAR):c.3052A>G (p.Ile1018Val) rs1696761288
NM_001111.5(ADAR):c.3055G>A (p.Val1019Met) rs1696760657
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg) rs1697938546
NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met) rs772773296
NM_001111.5(ADAR):c.3064T>C (p.Trp1022Arg)
NM_001111.5(ADAR):c.3067G>A (p.Asp1023Asn) rs1696759083
NM_001111.5(ADAR):c.3076C>T (p.Arg1026Trp)
NM_001111.5(ADAR):c.3077G>A (p.Arg1026Gln)
NM_001111.5(ADAR):c.308G>A (p.Gly103Glu)
NM_001111.5(ADAR):c.3092T>G (p.Leu1031Arg) rs2101566565
NM_001111.5(ADAR):c.3094_3095delinsTA (p.Arg1032Tyr) rs2101566531
NM_001111.5(ADAR):c.3101T>C (p.Met1034Thr) rs2101566489
NM_001111.5(ADAR):c.3107G>A (p.Cys1036Tyr) rs761590986
NM_001111.5(ADAR):c.3116A>C (p.Lys1039Thr)
NM_001111.5(ADAR):c.3116A>G (p.Lys1039Arg)
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys) rs779004315
NM_001111.5(ADAR):c.3152C>G (p.Ala1051Gly)
NM_001111.5(ADAR):c.3168C>G (p.Phe1056Leu)
NM_001111.5(ADAR):c.3188A>G (p.Lys1063Arg)
NM_001111.5(ADAR):c.3202+6G>A
NM_001111.5(ADAR):c.320G>A (p.Gly107Glu)
NM_001111.5(ADAR):c.320G>T (p.Gly107Val)
NM_001111.5(ADAR):c.3223C>T (p.His1075Tyr) rs2101563703
NM_001111.5(ADAR):c.3230C>A (p.Thr1077Asn)
NM_001111.5(ADAR):c.3233G>A (p.Arg1078His)
NM_001111.5(ADAR):c.3233G>C (p.Arg1078Pro)
NM_001111.5(ADAR):c.3248G>A (p.Arg1083His) rs1363826622
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly) rs1696719202
NM_001111.5(ADAR):c.3279T>G (p.Asp1093Glu)
NM_001111.5(ADAR):c.3286C>G (p.Arg1096Gly) rs769148365
NM_001111.5(ADAR):c.3287G>A (p.Arg1096Gln) rs747462052
NM_001111.5(ADAR):c.3289C>T (p.His1097Tyr) rs200537032
NM_001111.5(ADAR):c.328C>T (p.His110Tyr)
NM_001111.5(ADAR):c.3290A>G (p.His1097Arg)
NM_001111.5(ADAR):c.329A>G (p.His110Arg)
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
NM_001111.5(ADAR):c.3301G>T (p.Val1101Phe) rs2101563031
NM_001111.5(ADAR):c.3315+6A>C
NM_001111.5(ADAR):c.3331A>G (p.Ile1111Val) rs536100209
NM_001111.5(ADAR):c.3334T>C (p.Tyr1112His)
NM_001111.5(ADAR):c.3340T>A (p.Ser1114Thr)
NM_001111.5(ADAR):c.3343A>C (p.Lys1115Gln)
NM_001111.5(ADAR):c.3344A>G (p.Lys1115Arg)
NM_001111.5(ADAR):c.335C>T (p.Ser112Leu)
NM_001111.5(ADAR):c.3360G>C (p.Lys1120Asn) rs1696677352
NM_001111.5(ADAR):c.3376G>C (p.Val1126Leu) rs1571046840
NM_001111.5(ADAR):c.337C>G (p.Pro113Ala)
NM_001111.5(ADAR):c.3380A>G (p.Asn1127Ser)
NM_001111.5(ADAR):c.3386G>A (p.Cys1129Tyr)
NM_001111.5(ADAR):c.3386G>T (p.Cys1129Phe)
NM_001111.5(ADAR):c.3404A>G (p.Asp1135Gly)
NM_001111.5(ADAR):c.3421G>A (p.Gly1141Ser)
NM_001111.5(ADAR):c.3430G>A (p.Gly1144Ser)
NM_001111.5(ADAR):c.3443+3A>T rs746915200
NM_001111.5(ADAR):c.3444G>A (p.Gly1148=) rs2101558286
NM_001111.5(ADAR):c.3445C>T (p.Pro1149Ser) rs2101558262
NM_001111.5(ADAR):c.3452A>G (p.Asn1151Ser)
NM_001111.5(ADAR):c.3454G>A (p.Glu1152Lys)
NM_001111.5(ADAR):c.3464G>A (p.Arg1155Gln) rs1304875258
NM_001111.5(ADAR):c.3466G>A (p.Val1156Ile)
NM_001111.5(ADAR):c.3467T>C (p.Val1156Ala)
NM_001111.5(ADAR):c.3471C>T (p.Ser1157=)
NM_001111.5(ADAR):c.3476del (p.Lys1159fs)
NM_001111.5(ADAR):c.3487C>T (p.Leu1163Phe)
NM_001111.5(ADAR):c.348G>C (p.Arg116Ser)
NM_001111.5(ADAR):c.3490C>T (p.Leu1164=)
NM_001111.5(ADAR):c.3491T>G (p.Leu1164Arg)
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.3509C>T (p.Ser1170Phe) rs1696650377
NM_001111.5(ADAR):c.3516_3519del (p.Tyr1173fs)
NM_001111.5(ADAR):c.3541T>C (p.Ser1181Pro) rs374282086
NM_001111.5(ADAR):c.3543del (p.Tyr1182fs)
NM_001111.5(ADAR):c.3547G>C (p.Gly1183Arg)
NM_001111.5(ADAR):c.3548G>T (p.Gly1183Val)
NM_001111.5(ADAR):c.3566C>T (p.Ala1189Val)
NM_001111.5(ADAR):c.3568C>G (p.Arg1190Gly) rs979532140
NM_001111.5(ADAR):c.3569G>A (p.Arg1190His) rs1302098873
NM_001111.5(ADAR):c.3571G>C (p.Asp1191His)
NM_001111.5(ADAR):c.3574T>G (p.Tyr1192Asp)
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.3598A>C (p.Lys1200Gln) rs2101556953
NM_001111.5(ADAR):c.3599A>G (p.Lys1200Arg)
NM_001111.5(ADAR):c.35A>C (p.Tyr12Ser) rs1475258937
NM_001111.5(ADAR):c.3605G>C (p.Gly1202Ala)
NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)
NM_001111.5(ADAR):c.3632G>T (p.Trp1211Leu) rs2101556867
NM_001111.5(ADAR):c.3633del (p.Asn1210_Trp1211insTer)
NM_001111.5(ADAR):c.3634A>G (p.Ile1212Val)
NM_001111.5(ADAR):c.3641A>G (p.Lys1214Arg)
NM_001111.5(ADAR):c.3647A>G (p.Gln1216Arg)
NM_001111.5(ADAR):c.3657G>T (p.Lys1219Asn) rs2101556653
NM_001111.5(ADAR):c.365G>A (p.Gly122Asp)
NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)
NM_001111.5(ADAR):c.3673C>G (p.Pro1225Ala)
NM_001111.5(ADAR):c.377T>C (p.Leu126Pro)
NM_001111.5(ADAR):c.382T>A (p.Ser128Thr)
NM_001111.5(ADAR):c.38A>T (p.Tyr13Phe)
NM_001111.5(ADAR):c.400A>C (p.Ser134Arg)
NM_001111.5(ADAR):c.403A>G (p.Ile135Val) rs1697932885
NM_001111.5(ADAR):c.406T>C (p.Tyr136His) rs2101644128
NM_001111.5(ADAR):c.418G>C (p.Glu140Gln) rs2101644028
NM_001111.5(ADAR):c.41C>G (p.Thr14Ser)
NM_001111.5(ADAR):c.422A>G (p.Gln141Arg)
NM_001111.5(ADAR):c.44A>C (p.His15Pro) rs1697961105
NM_001111.5(ADAR):c.452G>A (p.Gly151Glu)
NM_001111.5(ADAR):c.470C>T (p.Thr157Ile)
NM_001111.5(ADAR):c.475C>G (p.His159Asp) rs921496664
NM_001111.5(ADAR):c.478G>C (p.Asp160His)
NM_001111.5(ADAR):c.487G>T (p.Gly163Trp) rs762094056
NM_001111.5(ADAR):c.494T>A (p.Leu165His) rs1697924081
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr) rs1571111089
NM_001111.5(ADAR):c.503C>T (p.Pro168Leu)
NM_001111.5(ADAR):c.511G>A (p.Glu171Lys) rs2101643546
NM_001111.5(ADAR):c.529T>C (p.Tyr177His) rs2101643438
NM_001111.5(ADAR):c.530A>G (p.Tyr177Cys)
NM_001111.5(ADAR):c.532T>A (p.Ser178Thr) rs1235906378
NM_001111.5(ADAR):c.533C>T (p.Ser178Phe) rs1697921275
NM_001111.5(ADAR):c.559A>G (p.Lys187Glu) rs1697919383
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu) rs1697917766
NM_001111.5(ADAR):c.593C>A (p.Ala198Glu)
NM_001111.5(ADAR):c.593C>T (p.Ala198Val)
NM_001111.5(ADAR):c.595G>A (p.Val199Ile)
NM_001111.5(ADAR):c.599C>G (p.Ser200Cys)
NM_001111.5(ADAR):c.605A>G (p.Gln202Arg)
NM_001111.5(ADAR):c.615C>A (p.Asn205Lys) rs770367924
NM_001111.5(ADAR):c.621C>G (p.His207Gln)
NM_001111.5(ADAR):c.622A>G (p.Ser208Gly)
NM_001111.5(ADAR):c.629T>A (p.Val210Glu)
NM_001111.5(ADAR):c.640G>A (p.Asp214Asn)
NM_001111.5(ADAR):c.641A>G (p.Asp214Gly) rs2101642759
NM_001111.5(ADAR):c.643G>C (p.Gly215Arg)
NM_001111.5(ADAR):c.643_789del (p.Gly215_Asp263del) rs2101641836
NM_001111.5(ADAR):c.651C>G (p.Ser217Arg)
NM_001111.5(ADAR):c.658G>A (p.Ala220Thr)
NM_001111.5(ADAR):c.658_804del (p.Ala220_Gly268del)
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.670G>A (p.Asp224Asn)
NM_001111.5(ADAR):c.672C>A (p.Asp224Glu)
NM_001111.5(ADAR):c.673C>T (p.Pro225Ser) rs759905537
NM_001111.5(ADAR):c.674C>T (p.Pro225Leu)
NM_001111.5(ADAR):c.677G>A (p.Ser226Asn)
NM_001111.5(ADAR):c.686C>G (p.Pro229Arg)
NM_001111.5(ADAR):c.694A>G (p.Arg232Gly)
NM_001111.5(ADAR):c.701C>A (p.Ser234Tyr) rs769223848
NM_001111.5(ADAR):c.718G>C (p.Asp240His) rs1374526080
NM_001111.5(ADAR):c.721C>T (p.Leu241Phe)
NM_001111.5(ADAR):c.721CTT[1] (p.Leu242del)
NM_001111.5(ADAR):c.722T>G (p.Leu241Arg)
NM_001111.5(ADAR):c.734T>C (p.Phe245Ser)
NM_001111.5(ADAR):c.737T>G (p.Ile246Ser)
NM_001111.5(ADAR):c.73C>T (p.Leu25Phe)
NM_001111.5(ADAR):c.749C>T (p.Ala250Val)
NM_001111.5(ADAR):c.769A>C (p.Ser257Arg)
NM_001111.5(ADAR):c.771C>G (p.Ser257Arg)
NM_001111.5(ADAR):c.779T>A (p.Val260Glu)
NM_001111.5(ADAR):c.785C>T (p.Pro262Leu)
NM_001111.5(ADAR):c.790A>G (p.Ser264Gly) rs1451687174
NM_001111.5(ADAR):c.792T>G (p.Ser264Arg)
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala) rs1313399962
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser) rs1313399962
NM_001111.5(ADAR):c.805T>G (p.Ser269Ala)
NM_001111.5(ADAR):c.811A>G (p.Asn271Asp) rs1223076895
NM_001111.5(ADAR):c.823G>T (p.Gly275Cys) rs867384981
NM_001111.5(ADAR):c.824G>A (p.Gly275Asp)
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436
NM_001111.5(ADAR):c.851C>T (p.Thr284Ile)
NM_001111.5(ADAR):c.865G>C (p.Asp289His)
NM_001111.5(ADAR):c.867T>G (p.Asp289Glu)
NM_001111.5(ADAR):c.879T>G (p.Phe293Leu)
NM_001111.5(ADAR):c.89C>G (p.Pro30Arg) rs2101645907
NM_001111.5(ADAR):c.906A>T (p.Lys302Asn)
NM_001111.5(ADAR):c.915C>G (p.Asp305Glu)
NM_001111.5(ADAR):c.925A>G (p.Asn309Asp)
NM_001111.5(ADAR):c.926A>G (p.Asn309Ser)
NM_001111.5(ADAR):c.931T>A (p.Ser311Thr) rs1697893231
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) rs765669048
NM_001111.5(ADAR):c.946C>G (p.Leu316Val)
NM_001111.5(ADAR):c.947T>C (p.Leu316Pro)
NM_001111.5(ADAR):c.968G>A (p.Gly323Asp)
NM_001111.5(ADAR):c.988A>G (p.Ile330Val) rs2101640846
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu) rs1571113228
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.1101C>T (p.Asp367=) rs1769766843
NM_001122769.3(LCA5):c.1267G>C (p.Glu423Gln) rs777920075
NM_001122769.3(LCA5):c.165T>G (p.Thr55=) rs534076319
NM_001122769.3(LCA5):c.1805C>G (p.Ala602Gly) rs1769692203
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val) rs901281230
NM_001122769.3(LCA5):c.484T>C (p.Phe162Leu) rs533963525
NM_001127453.2(GSDME):c.*239T>C rs1788738667
NM_001127453.2(GSDME):c.*260A>G rs886062223
NM_001127453.2(GSDME):c.*299A>G rs577672103
NM_001127453.2(GSDME):c.*326C>A rs554412975
NM_001127453.2(GSDME):c.*333T>G rs534617327
NM_001127453.2(GSDME):c.*583T>G rs886062222
NM_001127453.2(GSDME):c.1016C>G (p.Ser339Trp) rs755785416
NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer) rs757421220
NM_001127453.2(GSDME):c.1253A>G (p.His418Arg) rs886062225
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg) rs865905505
NM_001127453.2(GSDME):c.314dup (p.Ser106fs) rs755613828
NM_001127453.2(GSDME):c.356G>A (p.Arg119Lys) rs1349632914
NM_001127453.2(GSDME):c.358A>C (p.Lys120Gln) rs886062227
NM_001127453.2(GSDME):c.685G>A (p.Asp229Asn) rs775179954
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
NM_001127649.3(PEX26):c.*112C>T rs761715161
NM_001127649.3(PEX26):c.*1136G>A rs886057251
NM_001127649.3(PEX26):c.*1488T>C rs1926993079
NM_001127649.3(PEX26):c.*1623GTTT[7] rs375436648
NM_001127649.3(PEX26):c.*1639G>T rs12484897
NM_001127649.3(PEX26):c.*1957G>T rs11913772
NM_001127649.3(PEX26):c.*2070del rs886057256
NM_001127649.3(PEX26):c.*2282G>A rs183054849
NM_001127649.3(PEX26):c.*2452G>C rs886057258
NM_001127649.3(PEX26):c.*2523C>T rs752154886
NM_001127649.3(PEX26):c.*2647G>A rs886057259
NM_001127649.3(PEX26):c.*2799dup rs751296123
NM_001127649.3(PEX26):c.*2904T>C rs555003472
NM_001127649.3(PEX26):c.*533A>C rs886057247
NM_001127649.3(PEX26):c.*568G>A rs886057248
NM_001127649.3(PEX26):c.*609GA[3] rs886057249
NM_001127649.3(PEX26):c.*802A>G rs1046921426
NM_001127649.3(PEX26):c.*829A>T rs362057
NM_001127649.3(PEX26):c.-375G>A rs752393777
NM_001127649.3(PEX26):c.-80C>T rs1926378615
NM_001127649.3(PEX26):c.103G>A (p.Val35Met)
NM_001127649.3(PEX26):c.107A>G (p.Asp36Gly)
NM_001127649.3(PEX26):c.109C>T (p.Leu37Phe) rs1926397048
NM_001127649.3(PEX26):c.119A>C (p.Glu40Ala) rs1158271855
NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)
NM_001127649.3(PEX26):c.121G>A (p.Ala41Thr)
NM_001127649.3(PEX26):c.122C>T (p.Ala41Val) rs1926398102
NM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del) rs1926398431
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.145C>G (p.Leu49Val)
NM_001127649.3(PEX26):c.148G>C (p.Asp50His) rs1926400002
NM_001127649.3(PEX26):c.155G>A (p.Arg52Gln) rs746924588
NM_001127649.3(PEX26):c.174C>G (p.Cys58Trp)
NM_001127649.3(PEX26):c.175G>A (p.Glu59Lys)
NM_001127649.3(PEX26):c.179G>A (p.Arg60Gln)
NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu) rs770013891
NM_001127649.3(PEX26):c.205G>C (p.Ala69Pro) rs372192286
NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile) rs1273090730
NM_001127649.3(PEX26):c.211G>T (p.Ala71Ser) rs1329985456
NM_001127649.3(PEX26):c.214G>A (p.Glu72Lys) rs754081996
NM_001127649.3(PEX26):c.218A>T (p.Glu73Val)
NM_001127649.3(PEX26):c.224C>G (p.Ala75Gly)
NM_001127649.3(PEX26):c.224C>T (p.Ala75Val)
NM_001127649.3(PEX26):c.227G>A (p.Gly76Asp) rs751562812
NM_001127649.3(PEX26):c.227G>T (p.Gly76Val)
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.230+8C>T rs886057245
NM_001127649.3(PEX26):c.236T>C (p.Leu79Ser)
NM_001127649.3(PEX26):c.237G>C (p.Leu79Phe)
NM_001127649.3(PEX26):c.245A>G (p.Lys82Arg)
NM_001127649.3(PEX26):c.250T>A (p.Ser84Thr) rs1482137285
NM_001127649.3(PEX26):c.262G>A (p.Val88Met) rs555951210
NM_001127649.3(PEX26):c.267G>T (p.Gly89=) rs1926480417
NM_001127649.3(PEX26):c.274G>A (p.Ala92Thr)
NM_001127649.3(PEX26):c.283G>A (p.Glu95Lys)
NM_001127649.3(PEX26):c.331C>A (p.Gln111Lys)
NM_001127649.3(PEX26):c.333G>T (p.Gln111His)
NM_001127649.3(PEX26):c.334G>C (p.Val112Leu) rs1926486603
NM_001127649.3(PEX26):c.337C>T (p.Pro113Ser)
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.352C>G (p.Pro118Ala) rs1196346206
NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser) rs1196346206
NM_001127649.3(PEX26):c.353C>A (p.Pro118His) rs61752135
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.356A>G (p.Lys119Arg)
NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)
NM_001127649.3(PEX26):c.371+6T>C rs1769569086
NM_001127649.3(PEX26):c.374T>C (p.Ile125Thr) rs2123654101
NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe) rs781745366
NM_001127649.3(PEX26):c.388A>C (p.Lys130Gln) rs2123654132
NM_001127649.3(PEX26):c.393G>A (p.Met131Ile)
NM_001127649.3(PEX26):c.401C>T (p.Pro134Leu) rs1223290401
NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg) rs1926389027
NM_001127649.3(PEX26):c.412C>A (p.Leu138Met)
NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)
NM_001127649.3(PEX26):c.448A>G (p.Asn150Asp)
NM_001127649.3(PEX26):c.472G>A (p.Ala158Thr)
NM_001127649.3(PEX26):c.473C>A (p.Ala158Asp)
NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu) rs1321820881
NM_001127649.3(PEX26):c.493C>A (p.Gln165Lys)
NM_001127649.3(PEX26):c.494A>G (p.Gln165Arg)
NM_001127649.3(PEX26):c.515G>C (p.Gly172Ala) rs2123654402
NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr) rs924635830
NM_001127649.3(PEX26):c.563G>C (p.Gly188Ala)
NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly) rs201867828
NM_001127649.3(PEX26):c.577C>A (p.Leu193Met)
NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly) rs1215836822
NM_001127649.3(PEX26):c.598C>T (p.His200Tyr)
NM_001127649.3(PEX26):c.59G>A (p.Arg20His)
NM_001127649.3(PEX26):c.601A>G (p.Thr201Ala) rs866813788
NM_001127649.3(PEX26):c.620A>C (p.Lys207Thr)
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.629A>G (p.His210Arg)
NM_001127649.3(PEX26):c.641A>G (p.Glu214Gly) rs2123654686
NM_001127649.3(PEX26):c.662T>A (p.Leu221Gln) rs767345970
NM_001127649.3(PEX26):c.667G>A (p.Gly223Ser) rs899632797
NM_001127649.3(PEX26):c.668-3C>G
NM_001127649.3(PEX26):c.692C>T (p.Ser231Leu) rs2123657386
NM_001127649.3(PEX26):c.697C>T (p.Pro233Ser) rs1488593497
NM_001127649.3(PEX26):c.71C>T (p.Pro24Leu) rs771847925
NM_001127649.3(PEX26):c.721G>A (p.Asp241Asn)
NM_001127649.3(PEX26):c.732G>A (p.Val244=)
NM_001127649.3(PEX26):c.738C>A (p.His246Gln) rs1380881201
NM_001127649.3(PEX26):c.745T>C (p.Ser249Pro) rs1926792505
NM_001127649.3(PEX26):c.748C>G (p.Leu250Val) rs1049902849
NM_001127649.3(PEX26):c.74T>G (p.Val25Gly) rs2123644052
NM_001127649.3(PEX26):c.751C>G (p.Pro251Ala) rs2123657589
NM_001127649.3(PEX26):c.761A>T (p.Lys254Met) rs2123657617
NM_001127649.3(PEX26):c.773C>A (p.Ala258Asp)
NM_001127649.3(PEX26):c.77G>A (p.Arg26His) rs770555305
NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro) rs770555305
NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu) rs770555305
NM_001127649.3(PEX26):c.784C>G (p.Leu262Val)
NM_001127649.3(PEX26):c.784C>T (p.Leu262Phe) rs776346270
NM_001127649.3(PEX26):c.814+15C>T rs1926797835
NM_001127649.3(PEX26):c.832C>T (p.His278Tyr)
NM_001127649.3(PEX26):c.855G>C (p.Gln285His)
NM_001127649.3(PEX26):c.856C>G (p.Leu286Val)
NM_001127649.3(PEX26):c.872G>A (p.Arg291Gln)
NM_001127649.3(PEX26):c.887C>A (p.Ser296Tyr)
NM_001127649.3(PEX26):c.900G>C (p.Gln300His)
NM_001127649.3(PEX26):c.904C>G (p.Arg302Gly)
NM_001127649.3(PEX26):c.905G>A (p.Arg302His)
NM_001127649.3(PEX26):c.913G>A (p.Asp305Asn)
NM_001127649.3(PEX26):c.98C>G (p.Pro33Arg) rs368118099
NM_001127671.2(LIFR):c.*1291G>A rs767087396
NM_001127671.2(LIFR):c.*1464dup rs560124949
NM_001127671.2(LIFR):c.*1854C>T rs886060619
NM_001127671.2(LIFR):c.*1855A>T rs886060618
NM_001127671.2(LIFR):c.*1952A>G rs558503590
NM_001127671.2(LIFR):c.*1972C>T rs1227741988
NM_001127671.2(LIFR):c.*2138dup rs141563662
NM_001127671.2(LIFR):c.*2360A>C rs1461084870
NM_001127671.2(LIFR):c.*2910G>A rs368109984
NM_001127671.2(LIFR):c.*2981TATTT[1] rs540513218
NM_001127671.2(LIFR):c.*3074A>G rs2112340433
NM_001127671.2(LIFR):c.*3163T>A rs142495539
NM_001127671.2(LIFR):c.*3163T>C rs142495539
NM_001127671.2(LIFR):c.*3302T>C rs868197411
NM_001127671.2(LIFR):c.*3302T>G rs868197411
NM_001127671.2(LIFR):c.*3850T>G rs886060616
NM_001127671.2(LIFR):c.*4417A>G rs886060614
NM_001127671.2(LIFR):c.*4428T>C rs10056657
NM_001127671.2(LIFR):c.*4926_*4927del rs764162435
NM_001127671.2(LIFR):c.*4927del rs764162435
NM_001127671.2(LIFR):c.*5017A>G rs886060610
NM_001127671.2(LIFR):c.*5206A>G rs1347465930
NM_001127671.2(LIFR):c.*5542G>A rs886060608
NM_001127671.2(LIFR):c.*5768A>C rs886060606
NM_001127671.2(LIFR):c.*5793C>G rs556240742
NM_001127671.2(LIFR):c.*5796A>C rs886060605
NM_001127671.2(LIFR):c.*5986T>C rs886060604
NM_001127671.2(LIFR):c.*6386A>G rs2112328487
NM_001127671.2(LIFR):c.*6491A>G rs2112328232
NM_001127671.2(LIFR):c.*9C>A rs1743984823
NM_001127671.2(LIFR):c.-19-10C>T rs775849083
NM_001127671.2(LIFR):c.-19G>C rs2112571693
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=) rs1424683209
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly) rs121912501
NM_001127671.2(LIFR):c.183A>C (p.Gln61His) rs1243202901
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys) rs1744714439
NM_001127671.2(LIFR):c.2262C>A (p.Gly754=) rs886060630
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val) rs769684275
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) rs886060629
NM_001127671.2(LIFR):c.2750T>A (p.Phe917Tyr) rs886060628
NM_001127671.2(LIFR):c.2807G>A (p.Arg936His)
NM_001127671.2(LIFR):c.2852C>T (p.Pro951Leu) rs886060627
NM_001127671.2(LIFR):c.3082T>A (p.Tyr1028Asn) rs886060626
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) rs1745754747
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) rs2112493238
NM_001127671.2(LIFR):c.935C>A (p.Thr312Lys) rs886060631
NM_001127671.2(LIFR):c.991+10T>C rs2112491503
NM_001127671.2(LIFR):c.992-8dup rs773048780
NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu) rs746821182
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.1003T>C (p.Cys335Arg) rs112297047
NM_001128178.3(NPHP1):c.1016C>A (p.Pro339His) rs746482479
NM_001128178.3(NPHP1):c.1022C>G (p.Pro341Arg)
NM_001128178.3(NPHP1):c.1033A>C (p.Ile345Leu) rs1365124220
NM_001128178.3(NPHP1):c.1047C>A (p.Ser349Arg) rs2104542406
NM_001128178.3(NPHP1):c.1049G>A (p.Arg350Lys) rs754768821
NM_001128178.3(NPHP1):c.1083+6G>T
NM_001128178.3(NPHP1):c.1091G>A (p.Ser364Asn) rs1681364664
NM_001128178.3(NPHP1):c.1097T>C (p.Ile366Thr)
NM_001128178.3(NPHP1):c.1099C>T (p.His367Tyr)
NM_001128178.3(NPHP1):c.1130A>C (p.Lys377Thr) rs1441711189
NM_001128178.3(NPHP1):c.1154C>T (p.Pro385Leu)
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly) rs375907280
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1166G>A (p.Arg389His) rs140979636
NM_001128178.3(NPHP1):c.1166G>C (p.Arg389Pro) rs140979636
NM_001128178.3(NPHP1):c.1177T>C (p.Cys393Arg)
NM_001128178.3(NPHP1):c.1190G>T (p.Gly397Val) rs1681189257
NM_001128178.3(NPHP1):c.11G>A (p.Arg4Lys)
NM_001128178.3(NPHP1):c.1211A>G (p.Asn404Ser) rs1681187580
NM_001128178.3(NPHP1):c.1211_1213del (p.Asn404_Ser405delinsThr) rs1681187208
NM_001128178.3(NPHP1):c.1229T>C (p.Leu410Pro) rs765450176
NM_001128178.3(NPHP1):c.1231G>A (p.Gly411Arg) rs759936705
NM_001128178.3(NPHP1):c.1247T>G (p.Leu416Arg)
NM_001128178.3(NPHP1):c.1263T>G (p.Ile421Met) rs2104496731
NM_001128178.3(NPHP1):c.1264C>T (p.Arg422Cys)
NM_001128178.3(NPHP1):c.1265G>A (p.Arg422His) rs773810185
NM_001128178.3(NPHP1):c.1265G>T (p.Arg422Leu) rs773810185
NM_001128178.3(NPHP1):c.1268A>G (p.Asn423Ser)
NM_001128178.3(NPHP1):c.1269+17A>G
NM_001128178.3(NPHP1):c.1269T>C (p.Asn423=)
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu) rs2104492226
NM_001128178.3(NPHP1):c.1352+5G>A rs1681080526
NM_001128178.3(NPHP1):c.1363C>T (p.Leu455Phe)
NM_001128178.3(NPHP1):c.1371G>T (p.Leu457Phe) rs2104483940
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1384C>T (p.Pro462Ser)
NM_001128178.3(NPHP1):c.1412C>T (p.Pro471Leu)
NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys)
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys) rs779393628
NM_001128178.3(NPHP1):c.144-6A>G rs2104616583
NM_001128178.3(NPHP1):c.1441G>A (p.Val481Ile)
NM_001128178.3(NPHP1):c.1460C>A (p.Thr487Lys) rs1680806014
NM_001128178.3(NPHP1):c.1460C>T (p.Thr487Ile) rs1680806014
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.146G>A (p.Cys49Tyr)
NM_001128178.3(NPHP1):c.1470G>T (p.Arg490Ser) rs1680804337
NM_001128178.3(NPHP1):c.1474C>A (p.Pro492Thr)
NM_001128178.3(NPHP1):c.1475C>T (p.Pro492Leu)
NM_001128178.3(NPHP1):c.1521T>G (p.Asn507Lys) rs2104479969
NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile)
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1528A>T (p.Ser510Cys) rs995292402
NM_001128178.3(NPHP1):c.152A>C (p.Gln51Pro)
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1559T>A (p.Met520Lys) rs1318488822
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr) rs1318488822
NM_001128178.3(NPHP1):c.1577T>G (p.Leu526Trp) rs1314119987
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu) rs1559045921
NM_001128178.3(NPHP1):c.1599T>A (p.Leu533=) rs2104437967
NM_001128178.3(NPHP1):c.1641T>C (p.Thr547=)
NM_001128178.3(NPHP1):c.1652G>A (p.Ser551Asn)
NM_001128178.3(NPHP1):c.1660A>G (p.Met554Val) rs1679599536
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) rs746510153
NM_001128178.3(NPHP1):c.1672T>C (p.Phe558Leu) rs2104428780
NM_001128178.3(NPHP1):c.1679T>G (p.Met560Arg)
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala) rs147090619
NM_001128178.3(NPHP1):c.1699G>A (p.Val567Met)
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1716+4G>A
NM_001128178.3(NPHP1):c.1716+5G>A
NM_001128178.3(NPHP1):c.1716+5G>T
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1747A>G (p.Lys583Glu) rs1188653340
NM_001128178.3(NPHP1):c.1753T>C (p.Ser585Pro)
NM_001128178.3(NPHP1):c.1762-1G>A rs2104409792
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu) rs1679177926
NM_001128178.3(NPHP1):c.1784C>T (p.Ser595Phe)
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg)
NM_001128178.3(NPHP1):c.1807G>C (p.Asp603His) rs745639828
NM_001128178.3(NPHP1):c.1807G>T (p.Asp603Tyr) rs745639828
NM_001128178.3(NPHP1):c.1810T>G (p.Cys604Gly) rs2104409598
NM_001128178.3(NPHP1):c.1816C>T (p.Leu606Phe)
NM_001128178.3(NPHP1):c.1835C>T (p.Thr612Ile) rs2104409447
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His) rs566866150
NM_001128178.3(NPHP1):c.1838G>C (p.Arg613Pro)
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr) rs886043591
NM_001128178.3(NPHP1):c.1863A>C (p.Glu621Asp)
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1891G>T (p.Val631Phe)
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe)
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
NM_001128178.3(NPHP1):c.1955C>T (p.Pro652Leu)
NM_001128178.3(NPHP1):c.1966C>T (p.His656Tyr) rs1679151001
NM_001128178.3(NPHP1):c.1990dup (p.Gln664fs)
NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile)
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly) rs1683747045
NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly)
NM_001128178.3(NPHP1):c.200G>A (p.Ser67Asn) rs1206786239
NM_001128178.3(NPHP1):c.2019A>C (p.Arg673Ser) rs2104408356
NM_001128178.3(NPHP1):c.205G>C (p.Ala69Pro) rs753950057
NM_001128178.3(NPHP1):c.220C>G (p.Pro74Ala)
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys) rs1373708368
NM_001128178.3(NPHP1):c.236A>T (p.Asn79Ile) rs2104612175
NM_001128178.3(NPHP1):c.263T>C (p.Leu88Pro)
NM_001128178.3(NPHP1):c.28C>G (p.Leu10Val) rs1422250227
NM_001128178.3(NPHP1):c.292G>C (p.Gly98Arg) rs1273570018
NM_001128178.3(NPHP1):c.304A>G (p.Thr102Ala) rs2104611760
NM_001128178.3(NPHP1):c.307A>C (p.Ile103Leu) rs778905635
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.335G>A (p.Gly112Glu)
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser) rs1683007830
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.378T>G (p.Ser126Arg) rs1683002730
NM_001128178.3(NPHP1):c.386G>C (p.Ser129Thr)
NM_001128178.3(NPHP1):c.389G>A (p.Gly130Asp) rs2104578629
NM_001128178.3(NPHP1):c.395A>G (p.Glu132Gly)
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.410A>T (p.Glu137Val)
NM_001128178.3(NPHP1):c.415G>C (p.Glu139Gln)
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys) rs1011754227
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.452G>C (p.Trp151Ser) rs894279022
NM_001128178.3(NPHP1):c.472A>T (p.Ile158Phe)
NM_001128178.3(NPHP1):c.475G>T (p.Ala159Ser) rs372855293
NM_001128178.3(NPHP1):c.482G>C (p.Gly161Ala)
NM_001128178.3(NPHP1):c.49A>G (p.Asn17Asp)
NM_001128178.3(NPHP1):c.522+4G>C
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.523-14T>A
NM_001128178.3(NPHP1):c.526G>C (p.Gly176Arg)
NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro)
NM_001128178.3(NPHP1):c.545T>C (p.Ile182Thr)
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly)
NM_001128178.3(NPHP1):c.562G>A (p.Gly188Ser) rs1682878259
NM_001128178.3(NPHP1):c.568T>C (p.Trp190Arg) rs1682877562
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)
NM_001128178.3(NPHP1):c.608C>G (p.Pro203Arg)
NM_001128178.3(NPHP1):c.629A>G (p.Tyr210Cys) rs1273893174
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.644_645delinsGC (p.Glu215Gly) rs1682631627
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.670A>G (p.Ser224Gly) rs2104562029
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.681T>G (p.Asp227Glu) rs2104561993
NM_001128178.3(NPHP1):c.68A>T (p.Gln23Leu)
NM_001128178.3(NPHP1):c.695A>T (p.Asp232Val)
NM_001128178.3(NPHP1):c.706G>C (p.Asp236His) rs2104561811
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.722A>C (p.Lys241Thr)
NM_001128178.3(NPHP1):c.736C>T (p.Pro246Ser) rs2104560350
NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu)
NM_001128178.3(NPHP1):c.770A>T (p.Glu257Val) rs1291806248
NM_001128178.3(NPHP1):c.771+101C>G rs1352920059
NM_001128178.3(NPHP1):c.771+104G>C
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+136C>T
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+158C>T rs2104559150
NM_001128178.3(NPHP1):c.771+172A>C
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.771+23A>C
NM_001128178.3(NPHP1):c.771+26A>G
NM_001128178.3(NPHP1):c.771+52C>G
NM_001128178.3(NPHP1):c.771+65G>A rs2104559817
NM_001128178.3(NPHP1):c.771+65G>T
NM_001128178.3(NPHP1):c.771+76G>A rs772549591
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val)
NM_001128178.3(NPHP1):c.804G>A (p.Met268Ile)
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001128178.3(NPHP1):c.845A>G (p.Gln282Arg)
NM_001128178.3(NPHP1):c.845A>T (p.Gln282Leu)
NM_001128178.3(NPHP1):c.847C>G (p.Leu283Val) rs757063331
NM_001128178.3(NPHP1):c.883T>G (p.Phe295Val) rs2104548598
NM_001128178.3(NPHP1):c.890A>G (p.Gln297Arg) rs747172399
NM_001128178.3(NPHP1):c.8C>G (p.Ala3Gly) rs1685843048
NM_001128178.3(NPHP1):c.910C>A (p.Gln304Lys) rs1335925956
NM_001128178.3(NPHP1):c.913C>G (p.Leu305Val) rs748446911
NM_001128178.3(NPHP1):c.916G>T (p.Ala306Ser)
NM_001128178.3(NPHP1):c.937G>T (p.Asp313Tyr)
NM_001128178.3(NPHP1):c.954+5G>T rs1242271896
NM_001128178.3(NPHP1):c.959G>A (p.Arg320Lys)
NM_001128178.3(NPHP1):c.962C>T (p.Ser321Leu)
NM_001128178.3(NPHP1):c.976A>G (p.Ile326Val)
NM_001128178.3(NPHP1):c.983T>C (p.Leu328Ser)
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) rs794727018
NM_001128425.1(MUTYH):c.(?_-1)_(*1_?)dup
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe) rs587782404
NM_001128425.2(MUTYH):c.13G>A (p.Val5Ile) rs786201933
NM_001128425.2(MUTYH):c.13G>C (p.Val5Leu) rs786201933
NM_001128425.2(MUTYH):c.14T>C (p.Val5Ala) rs1553137063
NM_001128425.2(MUTYH):c.14_36+4dup
NM_001128425.2(MUTYH):c.158C>G (p.Ala53Gly)
NM_001128425.2(MUTYH):c.160T>A (p.Cys54Ser) rs2149177428
NM_001128425.2(MUTYH):c.163G>T (p.Ala55Ser) rs1557487984
NM_001128425.2(MUTYH):c.164C>T (p.Ala55Val) rs1553130580
NM_001128425.2(MUTYH):c.166G>A (p.Gly56Arg) rs1060501331
NM_001128425.2(MUTYH):c.167G>T (p.Gly56Val) rs587781374
NM_001128425.2(MUTYH):c.169A>C (p.Met57Leu)
NM_001128425.2(MUTYH):c.170T>G (p.Met57Arg) rs1557487867
NM_001128425.2(MUTYH):c.171G>T (p.Met57Ile)
NM_001128425.2(MUTYH):c.171_172delinsTT (p.Met57_Ile58delinsIlePhe) rs1645395987
NM_001128425.2(MUTYH):c.175G>A (p.Ala59Thr)
NM_001128425.2(MUTYH):c.175G>C (p.Ala59Pro) rs1570447125
NM_001128425.2(MUTYH):c.179A>G (p.Glu60Gly) rs878854187
NM_001128425.2(MUTYH):c.17C>G (p.Ser6Cys) rs587782837
NM_001128425.2(MUTYH):c.180G>A (p.Glu60=)
NM_001128425.2(MUTYH):c.182G>A (p.Cys61Tyr) rs1372337348
NM_001128425.2(MUTYH):c.182G>T (p.Cys61Phe) rs1372337348
NM_001128425.2(MUTYH):c.184C>T (p.Pro62Ser) rs1279830238
NM_001128425.2(MUTYH):c.185C>G (p.Pro62Arg) rs1570446625
NM_001128425.2(MUTYH):c.187G>A (p.Gly63Arg) rs541110664
NM_001128425.2(MUTYH):c.188G>A (p.Gly63Glu) rs763693540
NM_001128425.2(MUTYH):c.188G>T (p.Gly63Val) rs763693540
NM_001128425.2(MUTYH):c.190G>A (p.Ala64Thr) rs1645387931
NM_001128425.2(MUTYH):c.190G>T (p.Ala64Ser) rs1645387931
NM_001128425.2(MUTYH):c.191C>A (p.Ala64Asp) rs1570446268
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=) rs760321509
NM_001128425.2(MUTYH):c.193C>T (p.Pro65Ser) rs1553130504
NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr) rs1064793421
NM_001128425.2(MUTYH):c.197C>T (p.Ala66Val)
NM_001128425.2(MUTYH):c.19C>T (p.Arg7Cys) rs1382218222
NM_001128425.2(MUTYH):c.20G>A (p.Arg7His) rs1114167687
NM_001128425.2(MUTYH):c.20G>T (p.Arg7Leu) rs1114167687
NM_001128425.2(MUTYH):c.22C>G (p.Leu8Val)
NM_001128425.2(MUTYH):c.23T>C (p.Leu8Pro)
NM_001128425.2(MUTYH):c.23T>G (p.Leu8Arg) rs1570591840
NM_001128425.2(MUTYH):c.26G>A (p.Ser9Asn) rs1570591736
NM_001128425.2(MUTYH):c.27T>A (p.Ser9Arg)
NM_001128425.2(MUTYH):c.29G>A (p.Arg10His) rs755928199
NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro) rs755928199
NM_001128425.2(MUTYH):c.31C>G (p.Leu11Val) rs878854188
NM_001128425.2(MUTYH):c.32T>C (p.Leu11Pro)
NM_001128425.2(MUTYH):c.32T>G (p.Leu11Arg) rs752665489
NM_001128425.2(MUTYH):c.33G>A (p.Leu11=)
NM_001128425.2(MUTYH):c.34T>A (p.Trp12Arg) rs1060501343
NM_001128425.2(MUTYH):c.34T>C (p.Trp12Arg) rs1060501343
NM_001128425.2(MUTYH):c.35G>C (p.Trp12Ser) rs1064795596
NM_001128425.2(MUTYH):c.36G>C (p.Trp12Cys) rs767402084
NM_001128425.2(MUTYH):c.36G>T (p.Trp12Cys) rs767402084
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr) rs375349172
NM_001128425.2(MUTYH):c.40A>G (p.Ile14Val) rs1570467299
NM_001128425.2(MUTYH):c.4A>C (p.Thr2Pro) rs1646822689
NM_001128425.2(MUTYH):c.5C>T (p.Thr2Ile) rs2149249222
NM_001128425.2(MUTYH):c.8C>T (p.Pro3Leu) rs745424307
NM_001128425.2(MUTYH):c.9_10delinsAA (p.Leu4Ile) rs1064794772
NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)
NM_001129.5(AEBP1):c.2117A>T (p.Asn706Ile)
NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp) rs913206509
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) rs781380886
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) rs776036392
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg) rs767800266
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del) rs1553531818
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys) rs398123766
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.1577-25T>C rs769185336
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) rs541663451
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) rs1368149283
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) rs773168782
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=) rs2090960824
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln) rs546679270
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) rs376652699
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) rs1326126736
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) rs146819460
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) rs199543257
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=) rs1465061221
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=) rs775337850
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) rs2092226553
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) rs1553553762
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) rs759171890
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup) rs1172863089
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) rs774307376
NM_001130987.2(DYSF):c.2864+5G>A rs886044131
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) rs775907195
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn) rs2152814096
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) rs1316197789
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) rs778316824
NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly)
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) rs1553555901
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) rs1237272381
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) rs2092365476
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile) rs2092366716
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) rs770883682
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4]) rs398123779
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup) rs1553361783
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) rs779680055
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) rs1553361884
NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser)
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) rs959125009
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) rs778088008
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) rs761528558
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) rs1442583354
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del) rs1173583014
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del) rs748683903
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) rs1385670493
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) rs2152855991
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) rs370620594
NM_001130987.2(DYSF):c.3928-10T>C rs1558589946
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=) rs781449138
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys) rs760074198
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His) rs61742872
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) rs1404000468
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) rs775254512
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe) rs775254512
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) rs138268837
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del) rs765090357
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) rs761337469
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu) rs139654844
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser) rs757346544
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) rs1471848144
NM_001130987.2(DYSF):c.4387+3_4387+28del rs1553383255
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4465-1G>A rs1553389041
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) rs562261472
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.461-1G>A rs1553520795
NM_001130987.2(DYSF):c.4626+10C>T rs1420815050
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro) rs2094765878
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp) rs2094766394
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro) rs751126464
NM_001130987.2(DYSF):c.4755+5A>C rs2094768502
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val) rs768130248
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) rs1298041271
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) rs141704244
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del) rs1163037004
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) rs771735871
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5174+6_5174+7dup rs1553412837
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe) rs575920691
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser) rs1573078295
NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg)
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala) rs753644501
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) rs762675721
NM_001130987.2(DYSF):c.5546+7T>C rs1573092033
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala) rs886043339
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln) rs768704227
NM_001130987.2(DYSF):c.5642+3dup rs1341734203
NM_001130987.2(DYSF):c.5643-15A>G
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) rs886044266
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) rs886043028
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser) rs775578484
NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys)
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp) rs1395588065
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del) rs1553422765
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser) rs1442725303
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp) rs768820090
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser) rs759455142
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) rs752497222
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) rs201980470
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly) rs373585652
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC rs1553521641
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) rs1553522164
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001130987.2(DYSF):c.952-3C>G
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr) rs1314586455
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr) rs539484245
NM_001134793.2(HYLS1):c.-26+10_-26+11dup rs1555099863
NM_001134793.2(HYLS1):c.-26+10_-26+11insA rs886047939
NM_001134793.2(HYLS1):c.-26+10_-26+11insAA rs886047939
NM_001134793.2(HYLS1):c.-26+10_-26+11insTA rs886047939
NM_001134793.2(HYLS1):c.-26+10dup rs1555099865
NM_001134793.2(HYLS1):c.-26+28dup rs11382127
NM_001134793.2(HYLS1):c.-65dup rs60408033
NM_001134793.2(HYLS1):c.-67_-65dup rs60408033
NM_001134793.2(HYLS1):c.103G>C (p.Gly35Arg) rs1944692233
NM_001134793.2(HYLS1):c.145_147del (p.Asp49del) rs1211996582
NM_001134793.2(HYLS1):c.167_169del (p.Val56del) rs774246149
NM_001134793.2(HYLS1):c.183A>G (p.Arg61=) rs1944695435
NM_001134793.2(HYLS1):c.200A>G (p.Gln67Arg) rs1944696406
NM_001134793.2(HYLS1):c.220_221del (p.Glu74fs) rs1555102458
NM_001134793.2(HYLS1):c.234T>A (p.Pro78=) rs1944697741
NM_001134793.2(HYLS1):c.278TGA[1] (p.Met94del) rs1944700447
NM_001134793.2(HYLS1):c.284_286dup (p.Lys95dup) rs1555102499
NM_001134793.2(HYLS1):c.459del (p.Lys153fs) rs1555102572
NM_001134793.2(HYLS1):c.536_544del (p.Ser179_Ala181del) rs1319206829
NM_001134793.2(HYLS1):c.73_78del (p.Thr25_Ala26del) rs1555102367
NM_001134793.2(HYLS1):c.846C>T (p.Asp282=) rs1944726159
NM_001134793.2(HYLS1):c.851_859del (p.Ala284_Gly286del) rs1555102865
NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del) rs771348153
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.*216G>A rs1781565852
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*484G>A rs1045439496
NM_001134831.2(AHI1):c.*981C>T rs376956056
NM_001134831.2(AHI1):c.-332C>G rs944668049
NM_001134831.2(AHI1):c.-53A>G rs1461027288
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.1622A>G (p.Asp541Gly) rs1787553194
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg) rs750115460
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001136035.4(TRMT1):c.1019+9G>C rs375881785
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser) rs753225455
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter) rs1357887994
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp) rs1006351159
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala) rs759911177
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) rs1675655979
NM_001136219.3(FCGR2A):c.780+1G>A rs409763
NM_001139.3(ALOX12B):c.*118dup rs558690816
NM_001139.3(ALOX12B):c.-110C>A rs886053574
NM_001139.3(ALOX12B):c.-157C>T rs886053575
NM_001139.3(ALOX12B):c.-201C>G rs886053577
NM_001139.3(ALOX12B):c.-2C>T rs1978306048
NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg) rs886053565
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1101C>T (p.Pro367=) rs753070490
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) rs1567981916
NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser) rs369593974
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val) rs772257172
NM_001139.3(ALOX12B):c.1408G>T (p.Ala470Ser) rs1977079586
NM_001139.3(ALOX12B):c.1413G>A (p.Leu471=) rs886053564
NM_001139.3(ALOX12B):c.1460A>G (p.Glu487Gly) rs1335655652
NM_001139.3(ALOX12B):c.147+13G>A rs1978304239
NM_001139.3(ALOX12B):c.1570G>A (p.Asp524Asn) rs886053563
NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp) rs1977064087
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001139.3(ALOX12B):c.1926+9C>T rs762902391
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001139.3(ALOX12B):c.1966G>A (p.Glu656Lys) rs1357604679
NM_001139.3(ALOX12B):c.228C>A (p.Phe76Leu) rs1978297242
NM_001139.3(ALOX12B):c.235A>T (p.Lys79Ter) rs1567985312
NM_001139.3(ALOX12B):c.345G>T (p.Glu115Asp) rs368442508
NM_001139.3(ALOX12B):c.39C>T (p.Asp13=) rs201251213
NM_001139.3(ALOX12B):c.46_48del (p.Ser16del) rs886053573
NM_001139.3(ALOX12B):c.628TTC[1] (p.Phe211del) rs1026084346
NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu) rs1567982884
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001139.3(ALOX12B):c.927+5G>A rs933038014
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001142279.2(RNASEH2B):c.-293A>G rs1879223372
NM_001142279.2(RNASEH2B):c.-294C>T rs1879223150
NM_001142279.2(RNASEH2B):c.-313C>G rs886050287
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) rs1428846232
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile) rs1333304296
NM_001143985.1(BANF1):c.-86G>A rs886048514
NM_001143992.2(WRAP53):c.-1-5T>C rs2074054532
NM_001143992.2(WRAP53):c.-1-5T>G rs2074054532
NM_001143992.2(WRAP53):c.-2+2T>C rs886053517
NM_001143992.2(WRAP53):c.-23C>G rs2074051591
NM_001143992.2(WRAP53):c.-52C>T rs79199718
NM_001143992.2(WRAP53):c.1049del (p.Gly350fs) rs759174078
NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr) rs2151097173
NM_001143992.2(WRAP53):c.1403+6C>T rs886053518
NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp) rs2074302817
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) rs967111874
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser) rs2074304991
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) rs372166304
NM_001144758.3(PHLDB1):c.2603G>A (p.Arg868His)
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243
NM_001145308.4(LRTOMT):c.-409G>A rs886048624
NM_001145308.4(LRTOMT):c.-481G>T rs886048623
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001145809.2(MYH14):c.*142C>G rs770209944
NM_001145809.2(MYH14):c.*531C>T rs886054598
NM_001145809.2(MYH14):c.*604G>A rs2036823566
NM_001145809.2(MYH14):c.-15C>G rs2031567286
NM_001145809.2(MYH14):c.-17G>T rs905967494
NM_001145809.2(MYH14):c.-31C>T rs989700100
NM_001145809.2(MYH14):c.10G>A (p.Val4Met) rs532458856
NM_001145809.2(MYH14):c.1114+13C>G rs11666328
NM_001145809.2(MYH14):c.1586A>C (p.Glu529Ala) rs2034291097
NM_001145809.2(MYH14):c.1843G>T (p.Ala615Ser) rs1322815305
NM_001145809.2(MYH14):c.192G>A (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.2068C>G (p.Gln690Glu) rs370124751
NM_001145809.2(MYH14):c.2251C>T (p.Arg751Trp) rs772570358
NM_001145809.2(MYH14):c.2257G>T (p.Val753Leu) rs367822041
NM_001145809.2(MYH14):c.2279A>G (p.Asn760Ser) rs886054589
NM_001145809.2(MYH14):c.2383C>A (p.Pro795Thr) rs2034792345
NM_001145809.2(MYH14):c.2429A>C (p.Gln810Pro) rs2034872038
NM_001145809.2(MYH14):c.2505G>A (p.Gln835=) rs781160513
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.2748C>T (p.Ala916=) rs886054590
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
NM_001145809.2(MYH14):c.2941G>A (p.Val981Met) rs886054591
NM_001145809.2(MYH14):c.3490C>A (p.Arg1164=) rs984856121
NM_001145809.2(MYH14):c.3603C>T (p.Asp1201=) rs757735473
NM_001145809.2(MYH14):c.4152G>A (p.Glu1384=) rs727504965
NM_001145809.2(MYH14):c.440C>T (p.Pro147Leu) rs886054587
NM_001145809.2(MYH14):c.4624C>T (p.Arg1542Trp) rs553628577
NM_001145809.2(MYH14):c.4645G>A (p.Ala1549Thr) rs2035897043
NM_001145809.2(MYH14):c.4681G>A (p.Glu1561Lys) rs761025607
NM_001145809.2(MYH14):c.4693C>A (p.Arg1565=) rs769989306
NM_001145809.2(MYH14):c.5380G>A (p.Gly1794Arg)
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)
NM_001145809.2(MYH14):c.595G>C (p.Glu199Gln) rs1263172577
NM_001145809.2(MYH14):c.5961-4A>C rs1258855314
NM_001145809.2(MYH14):c.5965G>C (p.Gly1989Arg) rs1409838865
NM_001145809.2(MYH14):c.5981C>A (p.Thr1994Asn)
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001145809.2(MYH14):c.825C>T (p.Arg275=) rs2033134813
NM_001145809.2(MYH14):c.866T>C (p.Ile289Thr) rs777836668
NM_001146079.2(CLDN14):c.*222T>C rs2086555750
NM_001146079.2(CLDN14):c.-187C>T rs886057054
NM_001146079.2(CLDN14):c.-531G>A rs372584176
NM_001146079.2(CLDN14):c.-645G>T rs886057057
NM_001146079.2(CLDN14):c.-75G>T rs537529014
NM_001146079.2(CLDN14):c.-82+9G>C rs886057052
NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) rs756218341
NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) rs886057049
NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) rs746102559
NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) rs756847536
NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) rs2086563574
NM_001146079.2(CLDN14):c.664del (p.Ala222fs) rs761918152
NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) rs886057050
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
NM_001160372.4(TRAPPC9):c.1099T>G (p.Phe367Val)
NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His) rs1247214249
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
NM_001160372.4(TRAPPC9):c.1496-3C>T rs942972668
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg) rs550423753
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp) rs759330508
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro) rs1829977055
NM_001160372.4(TRAPPC9):c.3280-8C>G rs752940904
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
NM_001160372.4(TRAPPC9):c.584+1G>A rs1292031022
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs) rs886062727
NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)
NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa)
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)
NM_001161403.3(LIMS2):c.11+1287G>T
NM_001161403.3(LIMS2):c.11+1291C>G
NM_001161403.3(LIMS2):c.11+1305G>T rs991541495
NM_001161403.3(LIMS2):c.11+1332_11+1333dup rs140836565
NM_001161403.3(LIMS2):c.116_119dup (p.Cys40Ter)
NM_001161403.3(LIMS2):c.130G>A (p.Ala44Thr) rs1296516266
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)
NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)
NM_001161403.3(LIMS2):c.161T>C (p.Leu54Pro) rs1476186407
NM_001161403.3(LIMS2):c.17T>C (p.Met6Thr) rs2105304195
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)
NM_001161403.3(LIMS2):c.189C>G (p.Tyr63Ter) rs35765118
NM_001161403.3(LIMS2):c.190T>C (p.Cys64Arg) rs1684148003
NM_001161403.3(LIMS2):c.221C>T (p.Pro74Leu)
NM_001161403.3(LIMS2):c.238+15A>G
NM_001161403.3(LIMS2):c.238+1G>A
NM_001161403.3(LIMS2):c.238+4A>G
NM_001161403.3(LIMS2):c.246C>A (p.Phe82Leu)
NM_001161403.3(LIMS2):c.246CAT[1] (p.Ile84del)
NM_001161403.3(LIMS2):c.24C>A (p.Asp8Glu)
NM_001161403.3(LIMS2):c.271A>G (p.Met91Val)
NM_001161403.3(LIMS2):c.319G>A (p.Val107Met)
NM_001161403.3(LIMS2):c.329C>T (p.Ala110Val)
NM_001161403.3(LIMS2):c.334C>G (p.Leu112Val) rs1684103396
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del) rs762526323
NM_001161403.3(LIMS2):c.378C>G (p.Cys126Trp) rs1226628972
NM_001161403.3(LIMS2):c.385C>G (p.Arg129Gly) rs145123078
NM_001161403.3(LIMS2):c.386G>A (p.Arg129His)
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)
NM_001161403.3(LIMS2):c.442G>A (p.Asp148Asn)
NM_001161403.3(LIMS2):c.454C>T (p.Leu152Phe) rs1573757070
NM_001161403.3(LIMS2):c.457A>G (p.Met153Val)
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)
NM_001161403.3(LIMS2):c.461T>G (p.Phe154Cys)
NM_001161403.3(LIMS2):c.471C>G (p.Asp157Glu)
NM_001161403.3(LIMS2):c.496T>C (p.Cys166Arg)
NM_001161403.3(LIMS2):c.497G>A (p.Cys166Tyr)
NM_001161403.3(LIMS2):c.509+3A>G rs746495081
NM_001161403.3(LIMS2):c.539T>C (p.Leu180Pro) rs1682491108
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)
NM_001161403.3(LIMS2):c.577A>G (p.Met193Val) rs1469506308
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)
NM_001161403.3(LIMS2):c.589A>T (p.Ile197Phe) rs1558868736
NM_001161403.3(LIMS2):c.595G>C (p.Gly199Arg)
NM_001161403.3(LIMS2):c.5C>G (p.Thr2Arg)
NM_001161403.3(LIMS2):c.602G>A (p.Cys201Tyr) rs112682507
NM_001161403.3(LIMS2):c.608G>A (p.Arg203Gln) rs779326413
NM_001161403.3(LIMS2):c.61C>A (p.Arg21Ser)
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)
NM_001161403.3(LIMS2):c.635C>A (p.Ala212Glu) rs138275119
NM_001161403.3(LIMS2):c.655G>A (p.Val219Met)
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs) rs750940675
NM_001161403.3(LIMS2):c.666T>G (p.Phe222Leu)
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs) rs746910960
NM_001161403.3(LIMS2):c.68C>T (p.Ser23Phe)
NM_001161403.3(LIMS2):c.6G>A (p.Thr2=) rs1685444261
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)
NM_001161403.3(LIMS2):c.713A>C (p.Glu238Ala)
NM_001161403.3(LIMS2):c.736G>A (p.Glu246Lys)
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr) rs201527546
NM_001161403.3(LIMS2):c.754-2A>G
NM_001161403.3(LIMS2):c.760G>A (p.Gly254Arg)
NM_001161403.3(LIMS2):c.764A>C (p.Asp255Ala) rs1682280712
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)
NM_001161403.3(LIMS2):c.802G>T (p.Val268Leu) rs1682276394
NM_001161403.3(LIMS2):c.803-3C>T
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)
NM_001161403.3(LIMS2):c.833T>A (p.Val278Glu)
NM_001161403.3(LIMS2):c.878+5G>C
NM_001161403.3(LIMS2):c.879-1G>A rs1682170683
NM_001161403.3(LIMS2):c.882C>G (p.Asn294Lys) rs149101001
NM_001161403.3(LIMS2):c.882_884del (p.Asn294del)
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)
NM_001161403.3(LIMS2):c.898G>A (p.Asp300Asn)
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)
NM_001161403.3(LIMS2):c.89A>G (p.Asn30Ser)
NM_001161403.3(LIMS2):c.91A>G (p.Ser31Gly)
NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter) rs368451336
NM_001161403.3(LIMS2):c.928G>A (p.Glu310Lys)
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met) rs1682159709
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup) rs752066748
NM_001161403.3(LIMS2):c.960_961insT (p.Lys321Ter)
NM_001161403.3(LIMS2):c.982T>C (p.Ser328Pro)
NM_001161403.3(LIMS2):c.985C>T (p.Arg329Cys)
NM_001161403.3(LIMS2):c.985del (p.Arg329fs)
NM_001161403.3(LIMS2):c.994C>G (p.Gln332Glu)
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) rs1915232687
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) rs1915315281
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) rs748793270
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) rs374149596
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) rs150784268
NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser) rs560545893
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
NM_001164688.2(RD3):c.*1305del rs886045896
NM_001164688.2(RD3):c.*1582del rs879756831
NM_001164688.2(RD3):c.*1582dup rs879756831
NM_001164688.2(RD3):c.*1583del rs775682217
NM_001164688.2(RD3):c.-166GA[1] rs886045903
NM_001164688.2(RD3):c.-292_-291del rs1553282313
NM_001164688.2(RD3):c.-302_-294delinsC rs886045910
NM_001164688.2(RD3):c.-304_-294delinsC rs886045911
NM_001164688.2(RD3):c.-336AC[16] rs34485370
NM_001164688.2(RD3):c.-336AC[19] rs34485370
NM_001164688.2(RD3):c.-336AC[20] rs34485370
NM_001164688.2(RD3):c.-336AC[21] rs34485370
NM_001164688.2(RD3):c.-336AC[23] rs34485370
NM_001164688.2(RD3):c.-336AC[24] rs34485370
NM_001164688.2(RD3):c.-337_-336del rs886045915
NM_001164688.2(RD3):c.-340_-337del rs886045916
NM_001165967.2(HES7):c.173T>G (p.Ile58Arg)
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro) rs2023576110
NM_001171.5(ABCC6):c.144_795-3del
NM_001171.5(ABCC6):c.220_222del rs72664225
NM_001171.5(ABCC6):c.2996-1724_4209-478del
NM_001171.5(ABCC6):c.2996-?_4208+?del
NM_001171.5(ABCC6):c.3307-?_3735+?del
NM_001171.5(ABCC6):c.3307-?_3882+?del
NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro) rs1555518390
NM_001171.6(ABCC6):c.1176G>C (p.Lys392Asn) rs72653763
NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser) rs778544828
NM_001171.6(ABCC6):c.11C>A (p.Pro4His) rs1555523872
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.6(ABCC6):c.1244T>C (p.Val415Ala) rs72653765
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1363G>C (p.Ala455Pro) rs67996819
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His) rs72653767
NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr) rs1555515781
NM_001171.6(ABCC6):c.1432-22C>A rs72664297
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro) rs1555514945
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) rs772952563
NM_001171.6(ABCC6):c.1505A>T (p.Lys502Met) rs72653771
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp) rs1555514899
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) rs143588929
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) rs143588929
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro) rs774648925
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.1780-2A>G rs1555514089
NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu) rs761433545
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) rs74315110
NM_001171.6(ABCC6):c.182G>A (p.Gly61Asp) rs72657696
NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val) rs1555513604
NM_001171.6(ABCC6):c.1964A>G (p.Gln655Arg) rs72653779
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly) rs1555513103
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) rs200800189
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) rs200800189
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro) rs1555513073
NM_001171.6(ABCC6):c.2248-12_2248-11del rs111113623
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys) rs1555512420
NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly) rs72653793
NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro) rs1555512158
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) rs72653799
NM_001171.6(ABCC6):c.2631C>A (p.Thr877=) rs72664285
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu) rs1555523855
NM_001171.6(ABCC6):c.2784C>T (p.Gly928=) rs749125777
NM_001171.6(ABCC6):c.2831C>T (p.Thr944Ile) rs72653801
NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro) rs1555510407
NM_001171.6(ABCC6):c.2855T>G (p.Phe952Cys) rs72657690
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg) rs1555510357
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His) rs368465318
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro) rs1555509515
NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu) rs1555509485
NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser) rs1555509477
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3188T>C (p.Leu1063Pro) rs72657695
NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro) rs369518454
NM_001171.6(ABCC6):c.3306+5G>C rs369806278
NM_001171.6(ABCC6):c.3307-1006_3883-1050del
NM_001171.6(ABCC6):c.3307-38_3307-3delinsAGA rs1555508993
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly) rs772050759
NM_001171.6(ABCC6):c.3608G>A (p.Gly1203Asp) rs63750607
NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile) rs63750125
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.37-21_37-12del rs1555523540
NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His) rs63749992
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=) rs281865557
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys) rs63750209
NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del) rs74315128
NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys) rs63750625
NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del) rs72664235
NM_001171.6(ABCC6):c.3883-10C>G rs965791272
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu) rs63750992
NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr) rs766105758
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu) rs63750622
NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu) rs72664288
NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=) rs63750798
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr) rs63750295
NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=) rs72664289
NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr) rs1462269230
NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=) rs63750763
NM_001171.6(ABCC6):c.4403+11C>G rs72664215
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) rs63750135
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.549G>A (p.Leu183=) rs72664281
NM_001171.6(ABCC6):c.619G>A (p.Gly207Arg) rs72657697
NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser) rs1235912910
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg) rs1555520136
NM_001171.6(ABCC6):c.795-131_795-3del rs1555518941
NM_001171.6(ABCC6):c.865_889del (p.Leu289fs) rs74315139
NM_001173990.2(TMEM216):c.-128A>C rs886048411
NM_001173990.2(TMEM216):c.-285A>G rs139151563
NM_001173990.3(TMEM216):c.*190A>G rs1858851501
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*393C>T rs1858858010
NM_001173990.3(TMEM216):c.*548T>A rs1858863107
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.137-7T>C rs1554972545
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
NM_001173990.3(TMEM216):c.230-9dup rs1554972934
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) rs1554972964
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg) rs1938280351
NM_001184.4(ATR):c.-29_-9delinsT rs1577732214
NM_001184.4(ATR):c.1142A>T (p.Asp381Val) rs746692662
NM_001184.4(ATR):c.1328G>A (p.Arg443Lys) rs28367453
NM_001184.4(ATR):c.1403A>G (p.Gln468Arg) rs2034833475
NM_001184.4(ATR):c.1478T>C (p.Ile493Thr) rs2108482764
NM_001184.4(ATR):c.1589T>C (p.Val530Ala) rs2108480297
NM_001184.4(ATR):c.1611G>C (p.Leu537Phe) rs2108480149
NM_001184.4(ATR):c.1620C>T (p.Tyr540=) rs763088062
NM_001184.4(ATR):c.1835C>T (p.Thr612Ile) rs2108477446
NM_001184.4(ATR):c.1846A>G (p.Asn616Asp) rs2108477346
NM_001184.4(ATR):c.1848TCT[1] (p.Leu618del) rs757490543
NM_001184.4(ATR):c.1856C>T (p.Thr619Ile) rs2034769700
NM_001184.4(ATR):c.1860A>C (p.Leu620Phe) rs762564926
NM_001184.4(ATR):c.1877A>G (p.Asp626Gly) rs1020231215
NM_001184.4(ATR):c.1903C>T (p.Arg635Ter) rs1378333855
NM_001184.4(ATR):c.1991A>G (p.His664Arg) rs1458351462
NM_001184.4(ATR):c.2130A>G (p.Ile710Met) rs2034661720
NM_001184.4(ATR):c.214A>G (p.Ile72Val) rs1394561249
NM_001184.4(ATR):c.2158G>C (p.Gly720Arg) rs143633875
NM_001184.4(ATR):c.2162T>C (p.Met721Thr) rs377450037
NM_001184.4(ATR):c.2261C>T (p.Ser754Leu) rs749078940
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile) rs1489808838
NM_001184.4(ATR):c.2327G>C (p.Ser776Thr) rs979155439
NM_001184.4(ATR):c.2360A>G (p.His787Arg) rs779898609
NM_001184.4(ATR):c.2419G>A (p.Gly807Arg) rs200582541
NM_001184.4(ATR):c.2493A>G (p.Ile831Met) rs756567587
NM_001184.4(ATR):c.2503T>G (p.Leu835Val) rs377134163
NM_001184.4(ATR):c.2532+8A>G rs553507944
NM_001184.4(ATR):c.2678T>C (p.Leu893Ser) rs2034545465
NM_001184.4(ATR):c.292+15T>G rs886058058
NM_001184.4(ATR):c.3025G>A (p.Ala1009Thr) rs2034402314
NM_001184.4(ATR):c.3161A>G (p.His1054Arg) rs1000929934
NM_001184.4(ATR):c.3193G>A (p.Gly1065Arg) rs1577675053
NM_001184.4(ATR):c.3275A>G (p.Asn1092Ser) rs2034328286
NM_001184.4(ATR):c.3339_3341del (p.Ile1114del) rs779715723
NM_001184.4(ATR):c.3457A>G (p.Asn1153Asp) rs1442649106
NM_001184.4(ATR):c.3497A>C (p.His1166Pro) rs201438783
NM_001184.4(ATR):c.3524T>C (p.Met1175Thr) rs2108438183
NM_001184.4(ATR):c.3559G>T (p.Asp1187Tyr) rs765890919
NM_001184.4(ATR):c.3586T>G (p.Trp1196Gly) rs2108433026
NM_001184.4(ATR):c.384T>G (p.Cys128Trp) rs754728006
NM_001184.4(ATR):c.390A>T (p.Leu130Phe) rs2108488701
NM_001184.4(ATR):c.3925G>A (p.Glu1309Lys) rs947429668
NM_001184.4(ATR):c.4007T>A (p.Val1336Glu) rs2033272014
NM_001184.4(ATR):c.4043C>T (p.Ser1348Phe) rs2108399551
NM_001184.4(ATR):c.4057C>A (p.Leu1353Ile) rs766616536
NM_001184.4(ATR):c.4130A>G (p.Gln1377Arg) rs2108399250
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.4382+6T>C rs758074436
NM_001184.4(ATR):c.4442G>A (p.Ser1481Asn) rs2032818637
NM_001184.4(ATR):c.4562A>C (p.Asp1521Ala) rs2032702060
NM_001184.4(ATR):c.4639G>A (p.Glu1547Lys) rs1386387112
NM_001184.4(ATR):c.4703A>T (p.Asp1568Val) rs929755679
NM_001184.4(ATR):c.4706T>A (p.Ile1569Asn) rs2108372168
NM_001184.4(ATR):c.4792G>A (p.Ala1598Thr) rs187734529
NM_001184.4(ATR):c.4792G>T (p.Ala1598Ser) rs187734529
NM_001184.4(ATR):c.4846T>C (p.Ser1616Pro) rs201492267
NM_001184.4(ATR):c.4855T>C (p.Ser1619Pro) rs760429299
NM_001184.4(ATR):c.4897C>A (p.Leu1633Ile) rs4282075
NM_001184.4(ATR):c.489T>C (p.Asn163=) rs886058057
NM_001184.4(ATR):c.5004T>C (p.Asn1668=) rs2032341763
NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn) rs1375119564
NM_001184.4(ATR):c.539G>A (p.Ser180Asn) rs2034933781
NM_001184.4(ATR):c.5733C>A (p.Asn1911Lys) rs766428193
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_001184.4(ATR):c.5739-14_5739-6delinsT rs886058054
NM_001184.4(ATR):c.5852G>A (p.Arg1951Gln) rs745882886
NM_001184.4(ATR):c.5857G>A (p.Ala1953Thr) rs2031648536
NM_001184.4(ATR):c.5899-8del rs538488507
NM_001184.4(ATR):c.590T>C (p.Met197Thr) rs2108488175
NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg) rs2108326114
NM_001184.4(ATR):c.5971C>A (p.Pro1991Thr) rs757634741
NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln) rs145569221
NM_001184.4(ATR):c.6078+10T>C rs762754313
NM_001184.4(ATR):c.6079-6T>A rs2030840898
NM_001184.4(ATR):c.6198G>C (p.Arg2066=) rs758666784
NM_001184.4(ATR):c.6376A>G (p.Ile2126Val) rs370244617
NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp) rs2071170618
NM_001184.4(ATR):c.6635T>C (p.Val2212Ala) rs2108275967
NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe) rs2071168591
NM_001184.4(ATR):c.6880G>T (p.Ala2294Ser) rs370379866
NM_001184.4(ATR):c.7250T>C (p.Leu2417Ser) rs2070974907
NM_001184.4(ATR):c.7356TAG[3] (p.Ser2453dup) rs756975919
NM_001184.4(ATR):c.7399G>A (p.Val2467Ile) rs144887641
NM_001184.4(ATR):c.7408A>G (p.Ile2470Val) rs2070968355
NM_001184.4(ATR):c.7426C>A (p.Arg2476Ser) rs376735982
NM_001184.4(ATR):c.7732A>T (p.Asn2578Tyr) rs1309520394
NM_001184.4(ATR):c.7780G>C (p.Asp2594His) rs1227410272
NM_001184.4(ATR):c.847A>C (p.Met283Leu) rs1559998542
NM_001184.4(ATR):c.943C>G (p.Pro315Ala) rs2034917114
NM_001184.4(ATR):c.965T>C (p.Leu322Pro) rs2108487258
NM_001194998.2(CEP152):c.-105G>A rs886051267
NM_001194998.2(CEP152):c.-10C>G rs886051266
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.1111G>A (p.Glu371Lys) rs538717531
NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe) rs886051265
NM_001194998.2(CEP152):c.1329A>G (p.Val443=) rs587783415
NM_001194998.2(CEP152):c.133G>C (p.Asp45His) rs200227733
NM_001194998.2(CEP152):c.1516A>G (p.Thr506Ala) rs587783416
NM_001194998.2(CEP152):c.1768A>G (p.Ser590Gly) rs75994436
NM_001194998.2(CEP152):c.1769G>A (p.Ser590Asn) rs76252090
NM_001194998.2(CEP152):c.192A>C (p.Gln64His) rs1340289334
NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_001194998.2(CEP152):c.2563-11A>G
NM_001194998.2(CEP152):c.2647G>A (p.Glu883Lys) rs1894576215
NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) rs886051262
NM_001194998.2(CEP152):c.3014A>T (p.Lys1005Ile) rs587783422
NM_001194998.2(CEP152):c.3071G>A (p.Arg1024His) rs199914670
NM_001194998.2(CEP152):c.3683T>C (p.Met1228Thr) rs886051261
NM_001194998.2(CEP152):c.3880G>A (p.Glu1294Lys) rs12441978
NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) rs886051260
NM_001194998.2(CEP152):c.3989+12C>T rs59594811
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455
NM_001194998.2(CEP152):c.4625T>A (p.Met1542Lys) rs587783426
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met) rs909160279
NM_001194998.2(CEP152):c.87G>A (p.Glu29=) rs1897931321
NM_001194998.2(CEP152):c.981G>A (p.Lys327=) rs17339589
NM_001195248.2(APTX):c.742T>C (p.Leu248=) rs141195622
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg) rs1852358426
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His) rs1852354254
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) rs1025144704
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) rs758884514
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001195305.3(BBIP1):c.-57+4A>C
NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup) rs991079395
NM_001195305.3(BBIP1):c.187_188del (p.Leu63fs)
NM_001195305.3(BBIP1):c.38-6071C>G rs760064445
NM_001195794.1(CLRN1):c.-186A>G rs1715627039
NM_001195794.1(CLRN1):c.-229A>G rs575451901
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) rs1159971280
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) rs2141874280
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) rs769656369
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) rs2141874400
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) rs2065761961
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) rs2141874469
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) rs752216831
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
NM_001199107.2(TBC1D24):c.1205A>C (p.Glu402Ala) rs2065771759
NM_001199107.2(TBC1D24):c.1207-19A>G
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) rs2065776034
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) rs776176742
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
NM_001199107.2(TBC1D24):c.1303-5C>A rs1468286638
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) rs2065781206
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) rs2065781840
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
NM_001199107.2(TBC1D24):c.1459C>T (p.His487Tyr)
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) rs1326854687
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) rs2141877364
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) rs2065783244
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) rs2065783330
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
NM_001199107.2(TBC1D24):c.1525+6C>A
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) rs755313242
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) rs971385188
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) rs2065787303
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) rs2065788002
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) rs952274725
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) rs371245371
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) rs2141870575
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) rs2141871042
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) rs747915584
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) rs2065739166
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) rs2065739166
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) rs2065739291
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) rs2065739388
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) rs1457138817
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) rs752594126
NM_001199107.2(TBC1D24):c.370C>A (p.Gln124Lys) rs2141871461
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) rs777604231
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) rs2065741608
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) rs2065741689
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) rs200263150
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) rs1274130724
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) rs2141871675
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) rs2065742678
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) rs1169312508
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
NM_001199107.2(TBC1D24):c.523G>C (p.Ala175Pro) rs2141871916
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) rs2065744128
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) rs2065744128
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) rs2141872095
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) rs1441237124
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) rs2065745991
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) rs2141870701
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) rs190306450
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) rs1440897868
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) rs369120050
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) rs2065735848
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) rs2065747894
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) rs2065747955
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) rs772768393
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) rs1328684138
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) rs2141872549
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) rs2141872557
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) rs2065735946
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) rs2065736000
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu) rs760666914
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) rs2141872755
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) rs2141872821
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) rs2141872825
NM_001199107.2(TBC1D24):c.965+4G>C rs781629915
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410
NM_001199107.2(TBC1D24):c.966-10T>A rs1217245218
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) rs1567412736
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) rs2141873571
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) rs774492330
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)
NM_001199563.2(BVES):c.1033G>A (p.Val345Ile)
NM_001199563.2(BVES):c.1073A>G (p.Gln358Arg)
NM_001199563.2(BVES):c.184C>G (p.Leu62Val)
NM_001199563.2(BVES):c.199A>G (p.Ile67Val)
NM_001199563.2(BVES):c.244G>A (p.Val82Ile)
NM_001199563.2(BVES):c.263G>A (p.Arg88Gln)
NM_001199563.2(BVES):c.386G>A (p.Arg129Gln)
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001199563.2(BVES):c.467A>G (p.Lys156Arg)
NM_001199563.2(BVES):c.471G>T (p.Lys157Asn)
NM_001199563.2(BVES):c.515G>A (p.Arg172His)
NM_001199563.2(BVES):c.551C>T (p.Ser184Phe)
NM_001199563.2(BVES):c.569T>C (p.Leu190Pro)
NM_001199563.2(BVES):c.572A>G (p.His191Arg)
NM_001199563.2(BVES):c.64G>C (p.Glu22Gln)
NM_001199563.2(BVES):c.74T>C (p.Ile25Thr)
NM_001199563.2(BVES):c.758T>C (p.Ile253Thr)
NM_001199563.2(BVES):c.771C>G (p.Ile257Met)
NM_001199563.2(BVES):c.807A>T (p.Leu269Phe)
NM_001199563.2(BVES):c.841C>G (p.Leu281Val)
NM_001199563.2(BVES):c.876G>A (p.Met292Ile)
NM_001199563.2(BVES):c.931C>T (p.Arg311Trp)
NM_001199563.2(BVES):c.932G>A (p.Arg311Gln)
NM_001199563.2(BVES):c.937A>G (p.Thr313Ala)
NM_001199563.2(BVES):c.938C>T (p.Thr313Ile)
NM_001199563.2(BVES):c.938_939insT (p.Ser314fs)
NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu) rs760257421
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
NM_001199799.2(ILDR1):c.779-6A>G
NM_001205254.2(OCLN):c.1216G>A (p.Gly406Ser)
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001205254.2(OCLN):c.175A>C (p.Thr59Pro)
NM_001205254.2(OCLN):c.215T>G (p.Ile72Ser)
NM_001205254.2(OCLN):c.472A>G (p.Thr158Ala)
NM_001205254.2(OCLN):c.4T>C (p.Ser2Pro) rs113706384
NM_001205254.2(OCLN):c.811A>G (p.Met271Val)
NM_001205254.2(OCLN):c.944A>T (p.Tyr315Phe)
NM_001206999.2(CIT):c.1049A>G (p.Lys350Arg) rs1252357911
NM_001206999.2(CIT):c.1121C>A (p.Pro374His)
NM_001206999.2(CIT):c.2086C>T (p.Arg696Cys)
NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp)
NM_001206999.2(CIT):c.2357A>G (p.Asn786Ser)
NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) rs1593597170
NM_001206999.2(CIT):c.3157-5T>G rs1958639710
NM_001206999.2(CIT):c.3350+5G>A rs1565958864
NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp)
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) rs1593442207
NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys)
NM_001206999.2(CIT):c.644T>C (p.Met215Thr) rs1968834418
NM_001206999.2(CIT):c.731C>T (p.Ala244Val)
NM_001206999.2(CIT):c.938A>G (p.Asn313Ser)
NM_001218.5(CA12):c.355C>T (p.His119Tyr) rs905385980
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) rs2039037448
NM_001242481.2(EIF1AD):c.-297T>C rs886048511
NM_001242481.2(EIF1AD):c.-316C>T rs886048513
NM_001242481.2(EIF1AD):c.-322_-321dup rs373907315
NM_001242882.2(NAXD):c.181G>C (p.Val61Leu) rs770832128
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile) rs1886017898
NM_001242882.2(NAXD):c.591C>G (p.Asp197Glu)
NM_001242882.2(NAXD):c.736G>A (p.Glu246Lys)
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr) rs201499112
NM_001244189.2(KIAA0586):c.9+4A>C rs1029046238
NM_001244189.2(KIAA0586):c.9+5G>C
NM_001254.4(CDC6):c.*358GTT[3] rs771752103
NM_001254.4(CDC6):c.*635G>T rs532345721
NM_001254.4(CDC6):c.-14+8G>C rs886052901
NM_001254.4(CDC6):c.1020G>A (p.Leu340=) rs181925915
NM_001254.4(CDC6):c.1084-15A>G rs2032841757
NM_001254.4(CDC6):c.129C>T (p.Thr43=) rs2032718073
NM_001254.4(CDC6):c.134CTC[1] (p.Pro46del) rs776043160
NM_001254.4(CDC6):c.464C>T (p.Thr155Ile) rs771381953
NM_001254.4(CDC6):c.508G>A (p.Asp170Asn) rs1156429588
NM_001256317.3(TMPRSS3):c.*177A>C rs886057093
NM_001256317.3(TMPRSS3):c.*397C>A rs886057092
NM_001256317.3(TMPRSS3):c.*576G>A rs886057091
NM_001256317.3(TMPRSS3):c.*750C>A rs2052343735
NM_001256317.3(TMPRSS3):c.*782G>A rs1413686744
NM_001256317.3(TMPRSS3):c.-131G>C rs56369547
NM_001256317.3(TMPRSS3):c.1048+5G>A rs1209308277
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1192G>A (p.Gly398Arg)
NM_001256317.3(TMPRSS3):c.1235G>A (p.Trp412Ter) rs778939088
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.133C>A (p.Pro45Thr)
NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=) rs141682398
NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=) rs2052620435
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.620G>A (p.Cys207Tyr)
NM_001256850.1(TTN):c.19885+5G>A rs1064796629
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys) rs397517716
NM_001267547.3(ARFRP1):c.*1796A>G rs1555816562
NM_001267550.2(TTN):c.*274G>A rs886055215
NM_001267550.2(TTN):c.*913C>A rs886055213
NM_001267550.2(TTN):c.-225G>A rs886055312
NM_001267550.2(TTN):c.-38T>G rs886055309
NM_001267550.2(TTN):c.-76A>G rs1575064539
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu) rs879221791
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg) rs1060500454
NM_001267550.2(TTN):c.100171+3G>A
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100172-3T>C rs1312922352
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn) rs1060500553
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100436G>A (p.Ser33479Asn) rs1553501815
NM_001267550.2(TTN):c.10062del (p.Val3355fs) rs1553983844
NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro) rs373484505
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.100779A>G (p.Ile33593Met)
NM_001267550.2(TTN):c.100786C>T (p.Pro33596Ser) rs927922351
NM_001267550.2(TTN):c.100787C>T (p.Pro33596Leu)
NM_001267550.2(TTN):c.100790A>G (p.Lys33597Arg)
NM_001267550.2(TTN):c.100796T>C (p.Leu33599Pro) rs775361062
NM_001267550.2(TTN):c.100800A>C (p.Glu33600Asp) rs1575299834
NM_001267550.2(TTN):c.100804A>G (p.Met33602Val) rs759368043
NM_001267550.2(TTN):c.100811C>T (p.Ala33604Val)
NM_001267550.2(TTN):c.100820C>T (p.Ala33607Val)
NM_001267550.2(TTN):c.100829G>T (p.Gly33610Val) rs373754986
NM_001267550.2(TTN):c.100832A>T (p.Glu33611Val) rs2154136906
NM_001267550.2(TTN):c.100850T>C (p.Ile33617Thr)
NM_001267550.2(TTN):c.100858A>C (p.Ser33620Arg) rs1553500669
NM_001267550.2(TTN):c.100880T>C (p.Ile33627Thr) rs1553500627
NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile) rs200085900
NM_001267550.2(TTN):c.100900G>T (p.Asp33634Tyr) rs1691138917
NM_001267550.2(TTN):c.100907T>C (p.Ile33636Thr)
NM_001267550.2(TTN):c.100919G>T (p.Gly33640Val)
NM_001267550.2(TTN):c.100921C>T (p.His33641Tyr) rs1357251504
NM_001267550.2(TTN):c.100923C>G (p.His33641Gln) rs1691127745
NM_001267550.2(TTN):c.100934T>C (p.Ile33645Thr)
NM_001267550.2(TTN):c.100957C>T (p.Leu33653Phe) rs1178063403
NM_001267550.2(TTN):c.100958T>C (p.Leu33653Pro) rs1691110010
NM_001267550.2(TTN):c.100970A>G (p.Asn33657Ser) rs769340667
NM_001267550.2(TTN):c.100973G>C (p.Gly33658Ala) rs2154136811
NM_001267550.2(TTN):c.100976T>C (p.Val33659Ala) rs2154136807
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp) rs727503536
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.101003T>C (p.Val33668Ala) rs372534712
NM_001267550.2(TTN):c.101008T>C (p.Cys33670Arg) rs1575296634
NM_001267550.2(TTN):c.101009G>A (p.Cys33670Tyr) rs749219080
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.101045T>C (p.Val33682Ala)
NM_001267550.2(TTN):c.101047G>A (p.Glu33683Lys)
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val) rs775824162
NM_001267550.2(TTN):c.101053G>A (p.Asp33685Asn) rs1575295828
NM_001267550.2(TTN):c.101055T>A (p.Asp33685Glu)
NM_001267550.2(TTN):c.101056G>A (p.Val33686Met)
NM_001267550.2(TTN):c.101060C>G (p.Ala33687Gly)
NM_001267550.2(TTN):c.101062G>T (p.Asp33688Tyr)
NM_001267550.2(TTN):c.101068C>A (p.Pro33690Thr) rs886055225
NM_001267550.2(TTN):c.101068C>G (p.Pro33690Ala)
NM_001267550.2(TTN):c.101075C>G (p.Pro33692Arg)
NM_001267550.2(TTN):c.101081G>A (p.Arg33694Lys) rs747732590
NM_001267550.2(TTN):c.101084G>A (p.Gly33695Glu) rs1553499879
NM_001267550.2(TTN):c.101090A>C (p.Lys33697Thr) rs1691033741
NM_001267550.2(TTN):c.101117T>C (p.Val33706Ala) rs1261733710
NM_001267550.2(TTN):c.10112C>T (p.Thr3371Ile) rs1060500429
NM_001267550.2(TTN):c.101130G>T (p.Trp33710Cys)
NM_001267550.2(TTN):c.101134G>A (p.Glu33712Lys)
NM_001267550.2(TTN):c.101136G>C (p.Glu33712Asp) rs1060503937
NM_001267550.2(TTN):c.101137C>T (p.Pro33713Ser)
NM_001267550.2(TTN):c.10114+1G>T rs2154339650
NM_001267550.2(TTN):c.10114+5G>T rs115985443
NM_001267550.2(TTN):c.101140G>C (p.Ala33714Pro)
NM_001267550.2(TTN):c.101146G>A (p.Asp33716Asn)
NM_001267550.2(TTN):c.10115-2A>G
NM_001267550.2(TTN):c.10115-6T>C rs886055298
NM_001267550.2(TTN):c.101153G>A (p.Gly33718Asp)
NM_001267550.2(TTN):c.101155A>T (p.Ser33719Cys) rs2154136682
NM_001267550.2(TTN):c.101174T>C (p.Ile33725Thr)
NM_001267550.2(TTN):c.101179G>C (p.Glu33727Gln)
NM_001267550.2(TTN):c.101184A>T (p.Lys33728Asn)
NM_001267550.2(TTN):c.101191A>G (p.Thr33731Ala) rs746383312
NM_001267550.2(TTN):c.101194A>G (p.Thr33732Ala) rs1690986189
NM_001267550.2(TTN):c.101200G>C (p.Glu33734Gln)
NM_001267550.2(TTN):c.101206T>G (p.Trp33736Gly) rs1690982138
NM_001267550.2(TTN):c.10122del (p.Val3375fs)
NM_001267550.2(TTN):c.101233A>G (p.Thr33745Ala)
NM_001267550.2(TTN):c.101233A>T (p.Thr33745Ser) rs1690964903
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.101248A>T (p.Ile33750Phe) rs1690954165
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
NM_001267550.2(TTN):c.101256_101258del (p.Leu33752del) rs1690948347
NM_001267550.2(TTN):c.101258T>C (p.Phe33753Ser)
NM_001267550.2(TTN):c.101291C>G (p.Ala33764Gly) rs773542514
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.10129del (p.Trp3377fs) rs2088238871
NM_001267550.2(TTN):c.101305_101306delinsTC (p.Gly33769Ser)
NM_001267550.2(TTN):c.101306G>A (p.Gly33769Asp) rs1553499045
NM_001267550.2(TTN):c.101313C>T (p.Ser33771=) rs2154136571
NM_001267550.2(TTN):c.101323G>A (p.Glu33775Lys) rs1690927632
NM_001267550.2(TTN):c.101330C>T (p.Ser33777Leu)
NM_001267550.2(TTN):c.101339C>T (p.Thr33780Ile) rs2154136558
NM_001267550.2(TTN):c.101341A>G (p.Ile33781Val)
NM_001267550.2(TTN):c.101350G>C (p.Glu33784Gln)
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
NM_001267550.2(TTN):c.101355T>A (p.Asp33785Glu)
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) rs876658097
NM_001267550.2(TTN):c.101374T>C (p.Tyr33792His)
NM_001267550.2(TTN):c.101377G>A (p.Asp33793Asn)
NM_001267550.2(TTN):c.101405T>G (p.Val33802Gly)
NM_001267550.2(TTN):c.101417A>C (p.Lys33806Thr)
NM_001267550.2(TTN):c.101420C>T (p.Ala33807Val) rs1351679447
NM_001267550.2(TTN):c.101446T>C (p.Tyr33816His)
NM_001267550.2(TTN):c.101447A>T (p.Tyr33816Phe) rs2154136483
NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)
NM_001267550.2(TTN):c.101472T>A (p.Asp33824Glu) rs1575290013
NM_001267550.2(TTN):c.101476G>C (p.Gly33826Arg)
NM_001267550.2(TTN):c.101479C>A (p.Arg33827Ser)
NM_001267550.2(TTN):c.101486A>T (p.Glu33829Val)
NM_001267550.2(TTN):c.101500C>T (p.His33834Tyr)
NM_001267550.2(TTN):c.101503C>A (p.Arg33835Ser) rs781516399
NM_001267550.2(TTN):c.101506_101508del (p.Cys33836del) rs1690847769
NM_001267550.2(TTN):c.101521T>C (p.Ser33841Pro)
NM_001267550.2(TTN):c.101528A>C (p.Lys33843Thr) rs1690840610
NM_001267550.2(TTN):c.101533T>A (p.Tyr33845Asn)
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His) rs1227515280
NM_001267550.2(TTN):c.101538G>A (p.Met33846Ile) rs1690830241
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val) rs1690813389
NM_001267550.2(TTN):c.101573T>C (p.Val33858Ala) rs1172459056
NM_001267550.2(TTN):c.101576T>G (p.Leu33859Trp)
NM_001267550.2(TTN):c.101590A>G (p.Ile33864Val)
NM_001267550.2(TTN):c.101591T>C (p.Ile33864Thr)
NM_001267550.2(TTN):c.101613G>T (p.Arg33871Ser)
NM_001267550.2(TTN):c.101614C>A (p.His33872Asn) rs1690791818
NM_001267550.2(TTN):c.101629C>A (p.His33877Asn) rs1690786587
NM_001267550.2(TTN):c.101629C>T (p.His33877Tyr) rs1690786587
NM_001267550.2(TTN):c.101632C>T (p.Leu33878Phe)
NM_001267550.2(TTN):c.101635C>T (p.His33879Tyr)
NM_001267550.2(TTN):c.101645T>C (p.Phe33882Ser)
NM_001267550.2(TTN):c.101665G>C (p.Val33889Leu) rs34924609
NM_001267550.2(TTN):c.101675T>C (p.Phe33892Ser) rs1275405365
NM_001267550.2(TTN):c.101683A>G (p.Ile33895Val)
NM_001267550.2(TTN):c.101685A>G (p.Ile33895Met) rs2154136307
NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe) rs371930491
NM_001267550.2(TTN):c.101693T>C (p.Leu33898Pro) rs1575286611
NM_001267550.2(TTN):c.101696A>G (p.Asp33899Gly) rs794729560
NM_001267550.2(TTN):c.101706G>C (p.Glu33902Asp) rs1559042152
NM_001267550.2(TTN):c.101707C>G (p.Arg33903Gly) rs772574722
NM_001267550.2(TTN):c.101737G>A (p.Glu33913Lys)
NM_001267550.2(TTN):c.101747T>C (p.Ile33916Thr) rs2154136265
NM_001267550.2(TTN):c.101747T>G (p.Ile33916Ser)
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg) rs952080555
NM_001267550.2(TTN):c.101761C>T (p.His33921Tyr)
NM_001267550.2(TTN):c.101766G>T (p.Gln33922His)
NM_001267550.2(TTN):c.101768T>C (p.Val33923Ala)
NM_001267550.2(TTN):c.10178C>T (p.Thr3393Ile) rs752227022
NM_001267550.2(TTN):c.101792A>G (p.His33931Arg)
NM_001267550.2(TTN):c.101804T>C (p.Ile33935Thr)
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
NM_001267550.2(TTN):c.101830A>T (p.Asn33944Tyr)
NM_001267550.2(TTN):c.101831A>G (p.Asn33944Ser) rs2154136201
NM_001267550.2(TTN):c.101833A>G (p.Ile33945Val)
NM_001267550.2(TTN):c.101837T>C (p.Ile33946Thr)
NM_001267550.2(TTN):c.101845A>G (p.Thr33949Ala)
NM_001267550.2(TTN):c.10186_10192delinsATCATT (p.Glu3396fs) rs1553972275
NM_001267550.2(TTN):c.101870T>C (p.Ile33957Thr)
NM_001267550.2(TTN):c.101887G>A (p.Ala33963Thr)
NM_001267550.2(TTN):c.101888C>T (p.Ala33963Val) rs2154136158
NM_001267550.2(TTN):c.101902C>A (p.Pro33968Thr)
NM_001267550.2(TTN):c.101911A>C (p.Asn33971His) rs2154136145
NM_001267550.2(TTN):c.101912A>T (p.Asn33971Ile) rs1553497184
NM_001267550.2(TTN):c.101945A>G (p.Tyr33982Cys)
NM_001267550.2(TTN):c.101947_101948delinsAA (p.Ala33983Lys) rs1690652304
NM_001267550.2(TTN):c.101948C>T (p.Ala33983Val) rs1553497101
NM_001267550.2(TTN):c.101959C>T (p.His33987Tyr)
NM_001267550.2(TTN):c.101964G>C (p.Gln33988His)
NM_001267550.2(TTN):c.101971G>T (p.Val33991Phe)
NM_001267550.2(TTN):c.101972T>A (p.Val33991Asp)
NM_001267550.2(TTN):c.101978G>A (p.Ser33993Asn)
NM_001267550.2(TTN):c.101986A>G (p.Thr33996Ala) rs1690632346
NM_001267550.2(TTN):c.101993T>C (p.Met33998Thr) rs1559039438
NM_001267550.2(TTN):c.101997G>C (p.Trp33999Cys) rs764821435
NM_001267550.2(TTN):c.102002T>C (p.Leu34001Pro) rs2154136066
NM_001267550.2(TTN):c.102005G>A (p.Gly34002Glu)
NM_001267550.2(TTN):c.102013G>A (p.Val34005Ile) rs1690621219
NM_001267550.2(TTN):c.102038A>C (p.Asn34013Thr) rs1559038960
NM_001267550.2(TTN):c.102040C>T (p.Pro34014Ser)
NM_001267550.2(TTN):c.102041C>A (p.Pro34014Gln)
NM_001267550.2(TTN):c.102043T>C (p.Phe34015Leu)
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
NM_001267550.2(TTN):c.102071T>C (p.Ile34024Thr)
NM_001267550.2(TTN):c.102073G>A (p.Glu34025Lys)
NM_001267550.2(TTN):c.102085A>C (p.Asn34029His) rs1690593497
NM_001267550.2(TTN):c.102087T>A (p.Asn34029Lys) rs1690590871
NM_001267550.2(TTN):c.102094T>A (p.Tyr34032Asn)
NM_001267550.2(TTN):c.102106G>A (p.Glu34036Lys)
NM_001267550.2(TTN):c.102112G>A (p.Ala34038Thr) rs1690579265
NM_001267550.2(TTN):c.102115T>C (p.Phe34039Leu) rs1178807411
NM_001267550.2(TTN):c.102118A>G (p.Lys34040Glu)
NM_001267550.2(TTN):c.102129C>A (p.Ser34043Arg) rs2154135970
NM_001267550.2(TTN):c.102130A>C (p.Ile34044Leu) rs1690568887
NM_001267550.2(TTN):c.102130A>G (p.Ile34044Val)
NM_001267550.2(TTN):c.102140T>C (p.Met34047Thr) rs745563787
NM_001267550.2(TTN):c.102142G>T (p.Asp34048Tyr)
NM_001267550.2(TTN):c.102148G>A (p.Val34050Ile) rs1575280335
NM_001267550.2(TTN):c.102152A>T (p.Asp34051Val)
NM_001267550.2(TTN):c.102154C>T (p.Arg34052Trp) rs756924372
NM_001267550.2(TTN):c.102171G>C (p.Glu34057Asp)
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro) rs1690528772
NM_001267550.2(TTN):c.102202C>T (p.Leu34068Phe) rs999356407
NM_001267550.2(TTN):c.102212C>G (p.Pro34071Arg)
NM_001267550.2(TTN):c.102221A>G (p.Lys34074Arg)
NM_001267550.2(TTN):c.102222G>C (p.Lys34074Asn)
NM_001267550.2(TTN):c.102230T>C (p.Ile34077Thr) rs1290306844
NM_001267550.2(TTN):c.102232_102233inv (p.Glu34078Ser)
NM_001267550.2(TTN):c.102234A>T (p.Glu34078Asp) rs1043486033
NM_001267550.2(TTN):c.102242G>C (p.Ser34081Thr) rs1690505739
NM_001267550.2(TTN):c.102245C>A (p.Thr34082Asn)
NM_001267550.2(TTN):c.102269A>C (p.His34090Pro)
NM_001267550.2(TTN):c.102280T>C (p.Tyr34094His)
NM_001267550.2(TTN):c.102281A>C (p.Tyr34094Ser)
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn) rs375002174
NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn) rs1480810435
NM_001267550.2(TTN):c.102314T>A (p.Val34105Asp)
NM_001267550.2(TTN):c.102316G>C (p.Val34106Leu)
NM_001267550.2(TTN):c.102329G>C (p.Arg34110Pro) rs565347600
NM_001267550.2(TTN):c.102339T>G (p.Cys34113Trp) rs794729561
NM_001267550.2(TTN):c.102344G>A (p.Gly34115Asp) rs1342246182
NM_001267550.2(TTN):c.102365G>T (p.Gly34122Val)
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
NM_001267550.2(TTN):c.102373G>A (p.Val34125Ile)
NM_001267550.2(TTN):c.102374T>C (p.Val34125Ala)
NM_001267550.2(TTN):c.102381A>C (p.Lys34127Asn)
NM_001267550.2(TTN):c.102403A>G (p.Ile34135Val)
NM_001267550.2(TTN):c.102404T>C (p.Ile34135Thr) rs917268577
NM_001267550.2(TTN):c.10241del (p.Tyr3414fs) rs2154336829
NM_001267550.2(TTN):c.102421C>A (p.Gln34141Lys)
NM_001267550.2(TTN):c.102423G>T (p.Gln34141His) rs1553495068
NM_001267550.2(TTN):c.102426A>G (p.Ile34142Met)
NM_001267550.2(TTN):c.102430C>T (p.His34144Tyr) rs560027565
NM_001267550.2(TTN):c.102431A>G (p.His34144Arg) rs1553495003
NM_001267550.2(TTN):c.102437T>C (p.Val34146Ala) rs1690411709
NM_001267550.2(TTN):c.102442G>A (p.Glu34148Lys) rs1372227820
NM_001267550.2(TTN):c.102445G>C (p.Glu34149Gln)
NM_001267550.2(TTN):c.102446A>C (p.Glu34149Ala)
NM_001267550.2(TTN):c.102448G>A (p.Gly34150Arg)
NM_001267550.2(TTN):c.102452G>A (p.Gly34151Glu)
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
NM_001267550.2(TTN):c.102456T>A (p.His34152Gln) rs758384544
NM_001267550.2(TTN):c.102456T>G (p.His34152Gln)
NM_001267550.2(TTN):c.102458T>A (p.Val34153Asp) rs2154135691
NM_001267550.2(TTN):c.102464A>G (p.Tyr34155Cys)
NM_001267550.2(TTN):c.102469T>G (p.Cys34157Gly)
NM_001267550.2(TTN):c.102476T>C (p.Ile34159Thr) rs1690397017
NM_001267550.2(TTN):c.102481A>T (p.Asn34161Tyr)
NM_001267550.2(TTN):c.102488A>G (p.Asp34163Gly)
NM_001267550.2(TTN):c.102491A>G (p.Gln34164Arg)
NM_001267550.2(TTN):c.102502G>A (p.Val34168Met) rs2154135668
NM_001267550.2(TTN):c.102503T>C (p.Val34168Ala)
NM_001267550.2(TTN):c.102508T>G (p.Trp34170Gly) rs778786999
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys) rs1559033550
NM_001267550.2(TTN):c.102512A>T (p.Tyr34171Phe)
NM_001267550.2(TTN):c.102529C>A (p.Leu34177Met)
NM_001267550.2(TTN):c.102538_102539inv (p.Ser34180Leu)
NM_001267550.2(TTN):c.102540T>A (p.Ser34180Arg)
NM_001267550.2(TTN):c.102541G>A (p.Glu34181Lys) rs1559033148
NM_001267550.2(TTN):c.102545A>C (p.Lys34182Thr) rs1348175807
NM_001267550.2(TTN):c.102551A>C (p.Glu34184Ala) rs920777916
NM_001267550.2(TTN):c.102554T>C (p.Ile34185Thr) rs1280013764
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly) rs1266502582
NM_001267550.2(TTN):c.10255_10256delinsGA (p.Ser3419Asp) rs2088203924
NM_001267550.2(TTN):c.102566A>T (p.Asp34189Val) rs2154135620
NM_001267550.2(TTN):c.102575C>T (p.Ala34192Val) rs1690350047
NM_001267550.2(TTN):c.102591A>C (p.Lys34197Asn)
NM_001267550.2(TTN):c.102592G>A (p.Asp34198Asn) rs948836784
NM_001267550.2(TTN):c.102607G>C (p.Asp34203His) rs1189437049
NM_001267550.2(TTN):c.102607_102615del (p.Asp34203_Gly34205del) rs1559032218
NM_001267550.2(TTN):c.102610G>A (p.Asp34204Asn)
NM_001267550.2(TTN):c.102612T>A (p.Asp34204Glu) rs2154135586
NM_001267550.2(TTN):c.102626G>A (p.Cys34209Tyr) rs2154135569
NM_001267550.2(TTN):c.102628A>G (p.Lys34210Glu) rs1690321634
NM_001267550.2(TTN):c.102632T>C (p.Val34211Ala) rs2154135563
NM_001267550.2(TTN):c.102642C>G (p.Asp34214Glu) rs766760792
NM_001267550.2(TTN):c.102646G>A (p.Gly34216Ser)
NM_001267550.2(TTN):c.102646G>T (p.Gly34216Cys)
NM_001267550.2(TTN):c.102659C>T (p.Ser34220Phe)
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
NM_001267550.2(TTN):c.102674T>C (p.Phe34225Ser)
NM_001267550.2(TTN):c.102676G>C (p.Val34226Leu)
NM_001267550.2(TTN):c.102694G>C (p.Val34232Leu) rs2154135535
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=) rs1690297479
NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)
NM_001267550.2(TTN):c.102721A>G (p.Met34241Val) rs1690291255
NM_001267550.2(TTN):c.102725A>C (p.Lys34242Thr) rs1553493858
NM_001267550.2(TTN):c.102725A>G (p.Lys34242Arg) rs1553493858
NM_001267550.2(TTN):c.102743C>T (p.Thr34248Ile)
NM_001267550.2(TTN):c.102745G>C (p.Asp34249His) rs1575271973
NM_001267550.2(TTN):c.102749C>A (p.Thr34250Lys) rs1575271907
NM_001267550.2(TTN):c.102752T>C (p.Met34251Thr) rs750864230
NM_001267550.2(TTN):c.102772C>T (p.Pro34258Ser) rs752360286
NM_001267550.2(TTN):c.102794A>G (p.Tyr34265Cys) rs1559030437
NM_001267550.2(TTN):c.102797A>G (p.Asn34266Ser)
NM_001267550.2(TTN):c.102800A>T (p.Lys34267Met)
NM_001267550.2(TTN):c.102803C>G (p.Thr34268Arg)
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) rs794727542
NM_001267550.2(TTN):c.102811G>T (p.Val34271Leu) rs794727542
NM_001267550.2(TTN):c.102815G>A (p.Gly34272Asp)
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu) rs758945559
NM_001267550.2(TTN):c.102853C>T (p.Pro34285Ser)
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs) rs2088191243
NM_001267550.2(TTN):c.102874T>C (p.Tyr34292His)
NM_001267550.2(TTN):c.102890A>C (p.Lys34297Thr) rs1559029083
NM_001267550.2(TTN):c.102891A>C (p.Lys34297Asn) rs1019464699
NM_001267550.2(TTN):c.102893T>C (p.Ile34298Thr) rs1690192341
NM_001267550.2(TTN):c.102911A>G (p.Asp34304Gly)
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del) rs762798421
NM_001267550.2(TTN):c.102917A>G (p.Lys34306Arg) rs2154135329
NM_001267550.2(TTN):c.102919T>A (p.Tyr34307Asn)
NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)
NM_001267550.2(TTN):c.102934G>A (p.Asp34312Asn) rs1690170603
NM_001267550.2(TTN):c.102938A>C (p.Lys34313Thr)
NM_001267550.2(TTN):c.102938A>G (p.Lys34313Arg) rs1027988280
NM_001267550.2(TTN):c.102940G>T (p.Gly34314Cys)
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.102982G>T (p.Asp34328Tyr)
NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val)
NM_001267550.2(TTN):c.102994A>G (p.Thr34332Ala)
NM_001267550.2(TTN):c.102997G>A (p.Val34333Ile) rs763815899
NM_001267550.2(TTN):c.103000G>A (p.Val34334Met)
NM_001267550.2(TTN):c.103015T>C (p.Tyr34339His)
NM_001267550.2(TTN):c.103018G>A (p.Gly34340Ser)
NM_001267550.2(TTN):c.103018G>T (p.Gly34340Cys)
NM_001267550.2(TTN):c.103019G>A (p.Gly34340Asp)
NM_001267550.2(TTN):c.103026C>G (p.Asp34342Glu) rs1690121378
NM_001267550.2(TTN):c.103048G>A (p.Val34350Ile) rs2154135237
NM_001267550.2(TTN):c.103052C>T (p.Thr34351Ile) rs772319019
NM_001267550.2(TTN):c.103059C>A (p.His34353Gln) rs2154135228
NM_001267550.2(TTN):c.103060C>A (p.Pro34354Thr)
NM_001267550.2(TTN):c.103066C>T (p.Pro34356Ser)
NM_001267550.2(TTN):c.103072G>T (p.Asp34358Tyr) rs1690109376
NM_001267550.2(TTN):c.103076G>C (p.Ser34359Thr)
NM_001267550.2(TTN):c.103084A>G (p.Arg34362Gly)
NM_001267550.2(TTN):c.103091T>C (p.Met34364Thr) rs1057273567
NM_001267550.2(TTN):c.103126G>A (p.Glu34376Lys)
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro) rs779618819
NM_001267550.2(TTN):c.103137T>A (p.Ser34379Arg)
NM_001267550.2(TTN):c.103138G>C (p.Val34380Leu)
NM_001267550.2(TTN):c.103145T>C (p.Phe34382Ser) rs2154135165
NM_001267550.2(TTN):c.103151T>A (p.Ile34384Asn)
NM_001267550.2(TTN):c.103156G>A (p.Val34386Met)
NM_001267550.2(TTN):c.103156G>C (p.Val34386Leu)
NM_001267550.2(TTN):c.103159T>C (p.Ser34387Pro)
NM_001267550.2(TTN):c.103166T>A (p.Ile34389Asn) rs1575265105
NM_001267550.2(TTN):c.103172C>A (p.Pro34391Gln) rs775343253
NM_001267550.2(TTN):c.103172C>T (p.Pro34391Leu)
NM_001267550.2(TTN):c.103183A>C (p.Lys34395Gln) rs368320079
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser) rs1361480669
NM_001267550.2(TTN):c.103220C>A (p.Pro34407His)
NM_001267550.2(TTN):c.103226T>C (p.Ile34409Thr) rs879013405
NM_001267550.2(TTN):c.103231A>C (p.Ile34411Leu)
NM_001267550.2(TTN):c.103232T>A (p.Ile34411Asn)
NM_001267550.2(TTN):c.103243G>C (p.Gly34415Arg) rs1170678153
NM_001267550.2(TTN):c.103271G>T (p.Arg34424Met)
NM_001267550.2(TTN):c.103276A>G (p.Thr34426Ala)
NM_001267550.2(TTN):c.103280T>C (p.Leu34427Ser)
NM_001267550.2(TTN):c.103292C>G (p.Thr34431Arg) rs192001910
NM_001267550.2(TTN):c.103309A>G (p.Thr34437Ala)
NM_001267550.2(TTN):c.103340G>A (p.Cys34447Tyr) rs770558110
NM_001267550.2(TTN):c.103351C>G (p.Leu34451Val) rs1559023612
NM_001267550.2(TTN):c.103352T>C (p.Leu34451Pro) rs2154135007
NM_001267550.2(TTN):c.103363C>A (p.Arg34455Ser) rs72629785
NM_001267550.2(TTN):c.103370G>A (p.Arg34457Lys)
NM_001267550.2(TTN):c.103373A>G (p.Tyr34458Cys)
NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr)
NM_001267550.2(TTN):c.103382A>T (p.Gln34461Leu)
NM_001267550.2(TTN):c.103390A>G (p.Lys34464Glu)
NM_001267550.2(TTN):c.103409A>T (p.Glu34470Val) rs1553491559
NM_001267550.2(TTN):c.103423A>G (p.Lys34475Glu)
NM_001267550.2(TTN):c.103436A>G (p.Lys34479Arg) rs747582398
NM_001267550.2(TTN):c.103439C>A (p.Thr34480Asn)
NM_001267550.2(TTN):c.103439C>T (p.Thr34480Ile)
NM_001267550.2(TTN):c.103441C>T (p.Leu34481Phe) rs1689951104
NM_001267550.2(TTN):c.103445G>T (p.Arg34482Ile) rs1689948996
NM_001267550.2(TTN):c.103449G>C (p.Met34483Ile) rs1470149812
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro) rs754949098
NM_001267550.2(TTN):c.103451C>T (p.Ala34484Val)
NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp) rs746863482
NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr) rs2154134918
NM_001267550.2(TTN):c.103476T>A (p.Ser34492Arg) rs878854283
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile) rs1166346683
NM_001267550.2(TTN):c.103478T>C (p.Val34493Ala) rs1553491321
NM_001267550.2(TTN):c.103492G>T (p.Val34498Leu)
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter) rs1574929972
NM_001267550.2(TTN):c.103502A>C (p.Glu34501Ala) rs1369317965
NM_001267550.2(TTN):c.103505C>A (p.Ala34502Asp)
NM_001267550.2(TTN):c.103523T>C (p.Val34508Ala)
NM_001267550.2(TTN):c.103537G>C (p.Ala34513Pro)
NM_001267550.2(TTN):c.103540G>T (p.Val34514Leu) rs769311670
NM_001267550.2(TTN):c.103543A>T (p.Ser34515Cys)
NM_001267550.2(TTN):c.103549A>C (p.Lys34517Gln)
NM_001267550.2(TTN):c.103564G>A (p.Glu34522Lys) rs1689887445
NM_001267550.2(TTN):c.103579A>C (p.Ile34527Leu) rs1689876003
NM_001267550.2(TTN):c.103582G>A (p.Glu34528Lys) rs2154134838
NM_001267550.2(TTN):c.103582G>C (p.Glu34528Gln)
NM_001267550.2(TTN):c.103597G>C (p.Glu34533Gln)
NM_001267550.2(TTN):c.103598A>G (p.Glu34533Gly) rs1484143627
NM_001267550.2(TTN):c.103612A>T (p.Met34538Leu) rs376233324
NM_001267550.2(TTN):c.103615C>T (p.Pro34539Ser)
NM_001267550.2(TTN):c.103623T>G (p.Asp34541Glu) rs1559020199
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu) rs1575257488
NM_001267550.2(TTN):c.103641G>T (p.Lys34547Asn) rs2154134776
NM_001267550.2(TTN):c.103648C>G (p.Gln34550Glu)
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.103662A>C (p.Glu34554Asp)
NM_001267550.2(TTN):c.103663G>A (p.Glu34555Lys)
NM_001267550.2(TTN):c.103665A>C (p.Glu34555Asp)
NM_001267550.2(TTN):c.103694T>C (p.Met34565Thr)
NM_001267550.2(TTN):c.103696T>A (p.Ser34566Thr)
NM_001267550.2(TTN):c.103696T>G (p.Ser34566Ala) rs556060586
NM_001267550.2(TTN):c.103699G>T (p.Asp34567Tyr)
NM_001267550.2(TTN):c.103702A>G (p.Met34568Val)
NM_001267550.2(TTN):c.103703T>C (p.Met34568Thr) rs1350583693
NM_001267550.2(TTN):c.103721T>G (p.Ile34574Arg) rs2154134707
NM_001267550.2(TTN):c.103723C>A (p.Arg34575Ser) rs190866742
NM_001267550.2(TTN):c.103726G>C (p.Asp34576His)
NM_001267550.2(TTN):c.103730A>T (p.Gln34577Leu)
NM_001267550.2(TTN):c.103736A>C (p.Glu34579Ala) rs1386348360
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg) rs775137392
NM_001267550.2(TTN):c.103742C>G (p.Pro34581Arg) rs1357155692
NM_001267550.2(TTN):c.103750C>T (p.Leu34584Phe) rs1559018367
NM_001267550.2(TTN):c.103759G>A (p.Val34587Ile) rs1188944324
NM_001267550.2(TTN):c.103774C>A (p.Pro34592Thr) rs748291093
NM_001267550.2(TTN):c.103774C>T (p.Pro34592Ser) rs748291093
NM_001267550.2(TTN):c.103777A>C (p.Lys34593Gln) rs1689768170
NM_001267550.2(TTN):c.103796G>C (p.Arg34599Thr) rs1362778188
NM_001267550.2(TTN):c.103801G>A (p.Glu34601Lys)
NM_001267550.2(TTN):c.103818G>A (p.Met34606Ile)
NM_001267550.2(TTN):c.10381dup (p.Leu3461fs)
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
NM_001267550.2(TTN):c.103831A>G (p.Ile34611Val)
NM_001267550.2(TTN):c.103840C>G (p.Gln34614Glu) rs2154134587
NM_001267550.2(TTN):c.103865C>T (p.Pro34622Leu) rs762716728
NM_001267550.2(TTN):c.103879G>C (p.Asp34627His)
NM_001267550.2(TTN):c.103882G>T (p.Asp34628Tyr) rs1553490035
NM_001267550.2(TTN):c.103888G>A (p.Glu34630Lys)
NM_001267550.2(TTN):c.103892T>C (p.Ile34631Thr) rs776709904
NM_001267550.2(TTN):c.103892T>G (p.Ile34631Arg) rs776709904
NM_001267550.2(TTN):c.103897A>G (p.Arg34633Gly)
NM_001267550.2(TTN):c.103901C>T (p.Pro34634Leu)
NM_001267550.2(TTN):c.103919C>T (p.Pro34640Leu) rs2154134518
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr) rs1553970272
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del) rs774574734
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
NM_001267550.2(TTN):c.103933G>A (p.Asp34645Asn)
NM_001267550.2(TTN):c.103936T>C (p.Phe34646Leu)
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly) rs1689696229
NM_001267550.2(TTN):c.103948C>A (p.Pro34650Thr) rs879134298
NM_001267550.2(TTN):c.103957C>A (p.Arg34653Ser) rs773002407
NM_001267550.2(TTN):c.103958G>T (p.Arg34653Leu) rs72629786
NM_001267550.2(TTN):c.10395del (p.Ser3466fs) rs2087781053
NM_001267550.2(TTN):c.103961C>T (p.Ser34654Phe) rs1689685184
NM_001267550.2(TTN):c.103963C>T (p.Leu34655Phe)
NM_001267550.2(TTN):c.103964T>C (p.Leu34655Pro)
NM_001267550.2(TTN):c.103973T>C (p.Ile34658Thr) rs1689681272
NM_001267550.2(TTN):c.103999A>G (p.Ile34667Val) rs749651526
NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter) rs1561470471
NM_001267550.2(TTN):c.104006A>C (p.Asp34669Ala)
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys) rs765125364
NM_001267550.2(TTN):c.104024G>C (p.Arg34675Thr)
NM_001267550.2(TTN):c.104031G>C (p.Glu34677Asp) rs2154134425
NM_001267550.2(TTN):c.104039G>A (p.Arg34680Lys) rs753652745
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
NM_001267550.2(TTN):c.104052AGA[1] (p.Glu34686del) rs1689633500
NM_001267550.2(TTN):c.104059C>A (p.Leu34687Ile) rs1575250160
NM_001267550.2(TTN):c.104060T>G (p.Leu34687Arg) rs2154134402
NM_001267550.2(TTN):c.104063A>G (p.Glu34688Gly)
NM_001267550.2(TTN):c.104069G>T (p.Gly34690Val) rs964554853
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser) rs886055223
NM_001267550.2(TTN):c.104080T>C (p.Ser34694Pro) rs768203673
NM_001267550.2(TTN):c.104080T>G (p.Ser34694Ala) rs768203673
NM_001267550.2(TTN):c.104090G>C (p.Ser34697Thr)
NM_001267550.2(TTN):c.104098C>A (p.Pro34700Thr) rs778877604
NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser) rs778877604
NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg)
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
NM_001267550.2(TTN):c.104113C>A (p.Leu34705Ile)
NM_001267550.2(TTN):c.104113C>T (p.Leu34705Phe)
NM_001267550.2(TTN):c.104119A>G (p.Ser34707Gly)
NM_001267550.2(TTN):c.104128T>C (p.Tyr34710His)
NM_001267550.2(TTN):c.104144C>T (p.Ala34715Val)
NM_001267550.2(TTN):c.104147A>G (p.His34716Arg)
NM_001267550.2(TTN):c.104155G>A (p.Val34719Met)
NM_001267550.2(TTN):c.104159A>T (p.Glu34720Val)
NM_001267550.2(TTN):c.10415C>G (p.Ser3472Ter)
NM_001267550.2(TTN):c.104161G>A (p.Glu34721Lys) rs1689557329
NM_001267550.2(TTN):c.104162A>C (p.Glu34721Ala)
NM_001267550.2(TTN):c.104174A>C (p.Asp34725Ala) rs771698375
NM_001267550.2(TTN):c.104174A>G (p.Asp34725Gly)
NM_001267550.2(TTN):c.104181G>T (p.Arg34727Ser)
NM_001267550.2(TTN):c.104188A>G (p.Thr34730Ala) rs949998241
NM_001267550.2(TTN):c.104200C>T (p.Pro34734Ser)
NM_001267550.2(TTN):c.104203A>G (p.Thr34735Ala) rs1451123812
NM_001267550.2(TTN):c.104204C>G (p.Thr34735Arg) rs755986938
NM_001267550.2(TTN):c.104209G>A (p.Ala34737Thr)
NM_001267550.2(TTN):c.104215G>C (p.Ala34739Pro) rs796476794
NM_001267550.2(TTN):c.104216C>G (p.Ala34739Gly)
NM_001267550.2(TTN):c.104221A>G (p.Thr34741Ala) rs2154134261
NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn) rs765636638
NM_001267550.2(TTN):c.104225G>T (p.Ser34742Ile)
NM_001267550.2(TTN):c.104237_104245del (p.Leu34746_Glu34748del) rs1689509779
NM_001267550.2(TTN):c.104258C>T (p.Ala34753Val) rs770515852
NM_001267550.2(TTN):c.104263T>A (p.Tyr34755Asn) rs1553488819
NM_001267550.2(TTN):c.104290A>G (p.Ile34764Val)
NM_001267550.2(TTN):c.104294T>C (p.Met34765Thr)
NM_001267550.2(TTN):c.104306A>T (p.Glu34769Val) rs2154134195
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys) rs2154134190
NM_001267550.2(TTN):c.104318T>C (p.Leu34773Ser)
NM_001267550.2(TTN):c.104323C>T (p.Arg34775Cys)
NM_001267550.2(TTN):c.104327C>T (p.Pro34776Leu)
NM_001267550.2(TTN):c.104332A>G (p.Thr34778Ala) rs765838260
NM_001267550.2(TTN):c.104343G>C (p.Gln34781His)
NM_001267550.2(TTN):c.104357A>G (p.Tyr34786Cys) rs1689457386
NM_001267550.2(TTN):c.104365G>C (p.Glu34789Gln) rs190565627
NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)
NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu) rs1302011604
NM_001267550.2(TTN):c.104390A>C (p.Glu34797Ala)
NM_001267550.2(TTN):c.104405A>T (p.Lys34802Ile) rs1689437836
NM_001267550.2(TTN):c.104413C>G (p.Arg34805Gly)
NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro) rs115150240
NM_001267550.2(TTN):c.104417A>C (p.Gln34806Pro)
NM_001267550.2(TTN):c.104420G>A (p.Arg34807Lys) rs973111888
NM_001267550.2(TTN):c.104421A>C (p.Arg34807Ser) rs2154134105
NM_001267550.2(TTN):c.104422G>A (p.Glu34808Lys)
NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val) rs1245438198
NM_001267550.2(TTN):c.104438C>A (p.Thr34813Lys)
NM_001267550.2(TTN):c.104447A>G (p.Glu34816Gly)
NM_001267550.2(TTN):c.104448_104450dup (p.Glu34818_Tyr34819insGlu)
NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys) rs1553488312
NM_001267550.2(TTN):c.104449GAA[1] (p.Glu34818del) rs780929362
NM_001267550.2(TTN):c.10444G>A (p.Val3482Ile) rs1553970119
NM_001267550.2(TTN):c.104450A>G (p.Glu34817Gly)
NM_001267550.2(TTN):c.104455T>C (p.Tyr34819His) rs1553488294
NM_001267550.2(TTN):c.104474C>G (p.Ala34825Gly) rs766157074
NM_001267550.2(TTN):c.104477A>G (p.Gln34826Arg) rs2154134073
NM_001267550.2(TTN):c.104483A>G (p.Glu34828Gly) rs975412383
NM_001267550.2(TTN):c.104498C>G (p.Ala34833Gly)
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val) rs1164350939
NM_001267550.2(TTN):c.104501C>G (p.Ser34834Cys)
NM_001267550.2(TTN):c.104503A>G (p.Arg34835Gly) rs938452034
NM_001267550.2(TTN):c.104504G>C (p.Arg34835Thr) rs2154134050
NM_001267550.2(TTN):c.104509C>G (p.Leu34837Val)
NM_001267550.2(TTN):c.104513G>A (p.Arg34838Lys)
NM_001267550.2(TTN):c.104531C>T (p.Ser34844Phe)
NM_001267550.2(TTN):c.104545G>A (p.Glu34849Lys)
NM_001267550.2(TTN):c.104546A>C (p.Glu34849Ala) rs1553487855
NM_001267550.2(TTN):c.104584C>T (p.Pro34862Ser) rs2154133959
NM_001267550.2(TTN):c.104599G>A (p.Glu34867Lys) rs1689335929
NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly) rs377594642
NM_001267550.2(TTN):c.104624G>A (p.Arg34875Lys)
NM_001267550.2(TTN):c.104638G>A (p.Glu34880Lys) rs1404462483
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln) rs1404462483
NM_001267550.2(TTN):c.104647C>T (p.Arg34883Cys) rs1003158162
NM_001267550.2(TTN):c.104657C>T (p.Ser34886Phe)
NM_001267550.2(TTN):c.104659C>T (p.Pro34887Ser) rs1689308742
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) rs774131659
NM_001267550.2(TTN):c.104664C>G (p.Ser34888Arg) rs1365150853
NM_001267550.2(TTN):c.104668G>C (p.Val34890Leu)
NM_001267550.2(TTN):c.104671T>A (p.Ser34891Thr)
NM_001267550.2(TTN):c.104675G>A (p.Ser34892Asn)
NM_001267550.2(TTN):c.104680A>G (p.Arg34894Gly)
NM_001267550.2(TTN):c.104693G>C (p.Arg34898Thr)
NM_001267550.2(TTN):c.104699A>T (p.Glu34900Val)
NM_001267550.2(TTN):c.104702G>A (p.Arg34901Lys) rs1689282112
NM_001267550.2(TTN):c.104711G>T (p.Arg34904Ile) rs780506196
NM_001267550.2(TTN):c.104712A>T (p.Arg34904Ser)
NM_001267550.2(TTN):c.104713T>C (p.Phe34905Leu) rs2154133865
NM_001267550.2(TTN):c.104717A>G (p.Asp34906Gly)
NM_001267550.2(TTN):c.104717A>T (p.Asp34906Val)
NM_001267550.2(TTN):c.104720T>C (p.Ile34907Thr)
NM_001267550.2(TTN):c.104726C>T (p.Ser34909Phe) rs755637336
NM_001267550.2(TTN):c.104731T>C (p.Tyr34911His)
NM_001267550.2(TTN):c.104738C>T (p.Ser34913Phe) rs2154133838
NM_001267550.2(TTN):c.104746G>A (p.Ala34916Thr)
NM_001267550.2(TTN):c.104747C>T (p.Ala34916Val)
NM_001267550.2(TTN):c.104758A>C (p.Thr34920Pro)
NM_001267550.2(TTN):c.104767A>T (p.Thr34923Ser) rs1689239806
NM_001267550.2(TTN):c.104776A>T (p.Arg34926Trp)
NM_001267550.2(TTN):c.104783A>G (p.Tyr34928Cys) rs1470980085
NM_001267550.2(TTN):c.104792T>G (p.Leu34931Trp)
NM_001267550.2(TTN):c.104794A>G (p.Ser34932Gly)
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg) rs794729566
NM_001267550.2(TTN):c.104800C>A (p.Gln34934Lys)
NM_001267550.2(TTN):c.104804C>T (p.Pro34935Leu)
NM_001267550.2(TTN):c.104815G>C (p.Asp34939His) rs752164427
NM_001267550.2(TTN):c.104830A>G (p.Ile34944Val)
NM_001267550.2(TTN):c.104837T>A (p.Leu34946Gln)
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg) rs1185207035
NM_001267550.2(TTN):c.104846G>A (p.Arg34949His)
NM_001267550.2(TTN):c.104854A>G (p.Arg34952Gly)
NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile) rs776593972
NM_001267550.2(TTN):c.104857G>T (p.Val34953Leu)
NM_001267550.2(TTN):c.104860C>T (p.Pro34954Ser)
NM_001267550.2(TTN):c.104861C>T (p.Pro34954Leu) rs1689198573
NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)
NM_001267550.2(TTN):c.104865T>G (p.Cys34955Trp)
NM_001267550.2(TTN):c.104876C>A (p.Thr34959Lys)
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu) rs934181908
NM_001267550.2(TTN):c.104888T>C (p.Leu34963Ser)
NM_001267550.2(TTN):c.104893G>A (p.Val34965Ile)
NM_001267550.2(TTN):c.104904G>C (p.Lys34968Asn) rs1274496471
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg) rs2154133728
NM_001267550.2(TTN):c.104922A>C (p.Lys34974Asn)
NM_001267550.2(TTN):c.104923T>C (p.Trp34975Arg)
NM_001267550.2(TTN):c.104929_104931del (p.His34977del) rs1689167981
NM_001267550.2(TTN):c.104932A>G (p.Asn34978Asp)
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp) rs376634193
NM_001267550.2(TTN):c.104945T>C (p.Leu34982Pro)
NM_001267550.2(TTN):c.104949A>C (p.Gln34983His)
NM_001267550.2(TTN):c.104954G>A (p.Ser34985Asn) rs1689156700
NM_001267550.2(TTN):c.104966A>G (p.His34989Arg)
NM_001267550.2(TTN):c.104968T>C (p.Tyr34990His)
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala) rs764200285
NM_001267550.2(TTN):c.104972C>T (p.Thr34991Ile)
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
NM_001267550.2(TTN):c.104987T>C (p.Val34996Ala) rs2154133672
NM_001267550.2(TTN):c.104993C>T (p.Thr34998Ile) rs397517794
NM_001267550.2(TTN):c.105000A>T (p.Glu35000Asp) rs866303280
NM_001267550.2(TTN):c.105017C>T (p.Thr35006Ile) rs2154133648
NM_001267550.2(TTN):c.10504C>T (p.Gln3502Ter) rs1411783753
NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)
NM_001267550.2(TTN):c.105074A>C (p.Asp35025Ala)
NM_001267550.2(TTN):c.105077A>G (p.Tyr35026Cys)
NM_001267550.2(TTN):c.105088G>A (p.Asp35030Asn)
NM_001267550.2(TTN):c.105091G>C (p.Val35031Leu)
NM_001267550.2(TTN):c.105103G>T (p.Asp35035Tyr) rs794729567
NM_001267550.2(TTN):c.105113C>T (p.Thr35038Ile)
NM_001267550.2(TTN):c.105130A>G (p.Arg35044Gly)
NM_001267550.2(TTN):c.105133G>C (p.Asp35045His)
NM_001267550.2(TTN):c.105138_105164del (p.Glu35047_Glu35055del)
NM_001267550.2(TTN):c.105142G>A (p.Val35048Ile) rs1689087953
NM_001267550.2(TTN):c.105145C>A (p.Pro35049Thr) rs2154133549
NM_001267550.2(TTN):c.105151T>G (p.Ser35051Ala)
NM_001267550.2(TTN):c.105152C>T (p.Ser35051Phe)
NM_001267550.2(TTN):c.105154G>C (p.Val35052Leu) rs751583336
NM_001267550.2(TTN):c.105166C>G (p.Leu35056Val)
NM_001267550.2(TTN):c.105174A>T (p.Arg35058Ser)
NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105180_105181delinsCA (p.Glu35060_Ala35061delinsAspThr) rs1689075044
NM_001267550.2(TTN):c.105182C>A (p.Ala35061Glu) rs762136167
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser) rs1689071281
NM_001267550.2(TTN):c.105187G>A (p.Ala35063Thr) rs1558998039
NM_001267550.2(TTN):c.105197C>T (p.Ser35066Leu) rs1346086554
NM_001267550.2(TTN):c.105200T>C (p.Phe35067Ser)
NM_001267550.2(TTN):c.105203A>T (p.Lys35068Met)
NM_001267550.2(TTN):c.105209C>T (p.Thr35070Ile)
NM_001267550.2(TTN):c.105214G>C (p.Glu35072Gln) rs2154133487
NM_001267550.2(TTN):c.105220G>C (p.Glu35074Gln)
NM_001267550.2(TTN):c.105224C>T (p.Ala35075Val)
NM_001267550.2(TTN):c.105235G>A (p.Val35079Ile) rs751678775
NM_001267550.2(TTN):c.105241G>C (p.Glu35081Gln)
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys) rs886055221
NM_001267550.2(TTN):c.10525A>T (p.Lys3509Ter) rs2154336016
NM_001267550.2(TTN):c.105266C>T (p.Thr35089Ile)
NM_001267550.2(TTN):c.105275G>A (p.Ser35092Asn) rs1689031111
NM_001267550.2(TTN):c.105286T>A (p.Tyr35096Asn)
NM_001267550.2(TTN):c.105291A>T (p.Glu35097Asp)
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
NM_001267550.2(TTN):c.105295T>A (p.Ser35099Thr) rs1311764657
NM_001267550.2(TTN):c.105304G>A (p.Ala35102Thr) rs794729568
NM_001267550.2(TTN):c.105314A>G (p.Lys35105Arg) rs2154133421
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn) rs1575229486
NM_001267550.2(TTN):c.105322G>A (p.Ala35108Thr) rs1689011295
NM_001267550.2(TTN):c.105326T>C (p.Leu35109Ser) rs1689008949
NM_001267550.2(TTN):c.105336_105350dup (p.35109LEEKS[3]) rs1558996383
NM_001267550.2(TTN):c.105340C>G (p.Leu35114Val)
NM_001267550.2(TTN):c.105341T>G (p.Leu35114Arg)
NM_001267550.2(TTN):c.105351A>C (p.Lys35117Asn) rs1689002120
NM_001267550.2(TTN):c.105352T>C (p.Ser35118Pro) rs1689001356
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
NM_001267550.2(TTN):c.105386C>G (p.Ala35129Gly) rs1688988300
NM_001267550.2(TTN):c.105389G>A (p.Arg35130Lys)
NM_001267550.2(TTN):c.105394C>G (p.Leu35132Val)
NM_001267550.2(TTN):c.105398C>T (p.Thr35133Ile)
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly) rs372875128
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) rs372875128
NM_001267550.2(TTN):c.105410C>T (p.Ser35137Phe)
NM_001267550.2(TTN):c.105415A>G (p.Thr35139Ala) rs1029303559
NM_001267550.2(TTN):c.105424G>C (p.Glu35142Gln) rs765274398
NM_001267550.2(TTN):c.105434C>A (p.Ser35145Tyr) rs1688961412
NM_001267550.2(TTN):c.105437C>T (p.Ala35146Val) rs2154133306
NM_001267550.2(TTN):c.105439A>G (p.Arg35147Gly) rs2154133304
NM_001267550.2(TTN):c.105497G>A (p.Gly35166Glu)
NM_001267550.2(TTN):c.105497G>T (p.Gly35166Val) rs1060500538
NM_001267550.2(TTN):c.105499C>G (p.Gln35167Glu) rs1558994144
NM_001267550.2(TTN):c.105500A>G (p.Gln35167Arg)
NM_001267550.2(TTN):c.105506T>C (p.Leu35169Pro)
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105515C>A (p.Ser35172Tyr) rs749354699
NM_001267550.2(TTN):c.105515C>T (p.Ser35172Phe)
NM_001267550.2(TTN):c.105525C>G (p.His35175Gln) rs1215297501
NM_001267550.2(TTN):c.105526C>A (p.Gln35176Lys)
NM_001267550.2(TTN):c.105539C>A (p.Thr35180Lys) rs1575225765
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) rs878913505
NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile) rs781567438
NM_001267550.2(TTN):c.105557T>C (p.Phe35186Ser)
NM_001267550.2(TTN):c.105577G>T (p.Ala35193Ser)
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg) rs1553485050
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly) rs2154133150
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp) rs1558992011
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly) rs2154133116
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser) rs1688850382
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu) rs2154133075
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp) rs1444816567
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val) rs370476812
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr) rs886055220
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln) rs373486593
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu) rs770730954
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile) rs2857271
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe) rs1688767942
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly) rs1553484434
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser) rs764713884
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly) rs569210689
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) rs886055219
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn) rs1553484229
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr) rs1553484229
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser) rs1688720188
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser) rs1688710616
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn) rs1391706140
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser) rs1391706140
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)
NM_001267550.2(TTN):c.105980A>G (p.Lys35327Arg) rs1164792965
NM_001267550.2(TTN):c.105991C>A (p.His35331Asn)
NM_001267550.2(TTN):c.106006T>G (p.Tyr35336Asp) rs935907208
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser) rs373610666
NM_001267550.2(TTN):c.106019G>C (p.Gly35340Ala)
NM_001267550.2(TTN):c.106019G>T (p.Gly35340Val)
NM_001267550.2(TTN):c.106022C>G (p.Thr35341Ser)
NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)
NM_001267550.2(TTN):c.106045C>A (p.Leu35349Ile) rs1220665174
NM_001267550.2(TTN):c.106046T>C (p.Leu35349Pro)
NM_001267550.2(TTN):c.106049C>T (p.Thr35350Ile) rs1688665396
NM_001267550.2(TTN):c.106051G>A (p.Glu35351Lys)
NM_001267550.2(TTN):c.106057G>A (p.Asp35353Asn) rs780037060
NM_001267550.2(TTN):c.106057G>C (p.Asp35353His) rs780037060
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys) rs886055218
NM_001267550.2(TTN):c.106070A>C (p.Tyr35357Ser)
NM_001267550.2(TTN):c.106072G>A (p.Val35358Ile) rs2154132826
NM_001267550.2(TTN):c.106073T>A (p.Val35358Asp) rs1172243981
NM_001267550.2(TTN):c.106075T>C (p.Cys35359Arg)
NM_001267550.2(TTN):c.106078G>C (p.Glu35360Gln)
NM_001267550.2(TTN):c.106087G>A (p.Gly35363Ser)
NM_001267550.2(TTN):c.106091A>G (p.Glu35364Gly) rs1688643496
NM_001267550.2(TTN):c.106092A>C (p.Glu35364Asp)
NM_001267550.2(TTN):c.10609T>C (p.Tyr3537His) rs1553969617
NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro) rs1688636055
NM_001267550.2(TTN):c.106103C>G (p.Ser35368Cys)
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
NM_001267550.2(TTN):c.106111A>G (p.Asn35371Asp)
NM_001267550.2(TTN):c.106126G>A (p.Gly35376Arg)
NM_001267550.2(TTN):c.106127G>T (p.Gly35376Val)
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly) rs555476312
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.106137_106139dup (p.Phe35379_Lys35380insAsn) rs2154132776
NM_001267550.2(TTN):c.106150G>A (p.Glu35384Lys) rs1170470596
NM_001267550.2(TTN):c.106179G>C (p.Lys35393Asn)
NM_001267550.2(TTN):c.106184C>T (p.Ser35395Leu)
NM_001267550.2(TTN):c.106186G>A (p.Asp35396Asn)
NM_001267550.2(TTN):c.106188T>A (p.Asp35396Glu) rs770681247
NM_001267550.2(TTN):c.106199C>G (p.Thr35400Ser) rs906681609
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys) rs2154132721
NM_001267550.2(TTN):c.106211T>C (p.Val35404Ala) rs1688584053
NM_001267550.2(TTN):c.106214C>G (p.Thr35405Ser) rs1688580203
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr) rs371304729
NM_001267550.2(TTN):c.106219A>G (p.Lys35407Glu) rs1688576388
NM_001267550.2(TTN):c.106223C>A (p.Thr35408Asn) rs1688573613
NM_001267550.2(TTN):c.106229C>G (p.Pro35410Arg) rs1553483445
NM_001267550.2(TTN):c.106234G>C (p.Ala35412Pro) rs766892661
NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg) rs1688567795
NM_001267550.2(TTN):c.106240G>C (p.Glu35414Gln) rs1558984927
NM_001267550.2(TTN):c.106253C>T (p.Ser35418Leu)
NM_001267550.2(TTN):c.106265T>C (p.Ile35422Thr) rs1688557044
NM_001267550.2(TTN):c.106274G>A (p.Gly35425Glu) rs1204851576
NM_001267550.2(TTN):c.106285A>T (p.Thr35429Ser)
NM_001267550.2(TTN):c.106289C>A (p.Thr35430Asn)
NM_001267550.2(TTN):c.106302C>G (p.Asp35434Glu)
NM_001267550.2(TTN):c.106325A>G (p.Lys35442Arg) rs1688520726
NM_001267550.2(TTN):c.106327G>A (p.Ala35443Thr)
NM_001267550.2(TTN):c.106330A>G (p.Thr35444Ala) rs1688516881
NM_001267550.2(TTN):c.106330A>T (p.Thr35444Ser) rs1688516881
NM_001267550.2(TTN):c.106349C>T (p.Thr35450Ile) rs371022420
NM_001267550.2(TTN):c.106365A>C (p.Lys35455Asn)
NM_001267550.2(TTN):c.106375-3C>T rs1688412007
NM_001267550.2(TTN):c.106378A>G (p.Ile35460Val) rs1688408023
NM_001267550.2(TTN):c.106397A>G (p.Tyr35466Cys)
NM_001267550.2(TTN):c.106402C>G (p.Leu35468Val)
NM_001267550.2(TTN):c.106415A>C (p.Lys35472Thr) rs1688385311
NM_001267550.2(TTN):c.106418G>A (p.Gly35473Glu) rs1688381864
NM_001267550.2(TTN):c.106439A>C (p.His35480Pro)
NM_001267550.2(TTN):c.106444A>T (p.Thr35482Ser) rs1423470146
NM_001267550.2(TTN):c.106451C>A (p.Thr35484Asn) rs754163825
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg) rs886039020
NM_001267550.2(TTN):c.106472C>A (p.Thr35491Asn) rs1461069852
NM_001267550.2(TTN):c.106472C>T (p.Thr35491Ile)
NM_001267550.2(TTN):c.106486A>C (p.Asn35496His) rs1688351717
NM_001267550.2(TTN):c.106487A>C (p.Asn35496Thr) rs2154132393
NM_001267550.2(TTN):c.106488T>A (p.Asn35496Lys)
NM_001267550.2(TTN):c.106492G>C (p.Ala35498Pro) rs878879036
NM_001267550.2(TTN):c.106495G>A (p.Gly35499Arg) rs779794234
NM_001267550.2(TTN):c.106496G>A (p.Gly35499Glu)
NM_001267550.2(TTN):c.106511G>T (p.Ser35504Ile)
NM_001267550.2(TTN):c.106514G>A (p.Cys35505Tyr) rs2154132356
NM_001267550.2(TTN):c.106525A>G (p.Ile35509Val) rs1553482514
NM_001267550.2(TTN):c.106526T>C (p.Ile35509Thr) rs1447572736
NM_001267550.2(TTN):c.106531+5G>T
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr) rs768786354
NM_001267550.2(TTN):c.106546G>A (p.Glu35516Lys)
NM_001267550.2(TTN):c.106558G>A (p.Val35520Ile)
NM_001267550.2(TTN):c.106565C>A (p.Thr35522Lys)
NM_001267550.2(TTN):c.106567C>A (p.Gln35523Lys) rs1019567796
NM_001267550.2(TTN):c.106573A>G (p.Thr35525Ala) rs1575198568
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer) rs768256269
NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val) rs386653129
NM_001267550.2(TTN):c.10657A>G (p.Thr3553Ala) rs1553969472
NM_001267550.2(TTN):c.106588C>A (p.Pro35530Thr)
NM_001267550.2(TTN):c.106592A>G (p.Gln35531Arg) rs1687861665
NM_001267550.2(TTN):c.106600G>A (p.Ala35534Thr)
NM_001267550.2(TTN):c.106601C>T (p.Ala35534Val) rs878854284
NM_001267550.2(TTN):c.106602TGT[1] (p.Val35536del)
NM_001267550.2(TTN):c.106603G>A (p.Val35535Ile) rs1553481274
NM_001267550.2(TTN):c.106607T>C (p.Val35536Ala)
NM_001267550.2(TTN):c.106610A>G (p.Gln35537Arg)
NM_001267550.2(TTN):c.106612G>C (p.Glu35538Gln) rs968812751
NM_001267550.2(TTN):c.106648A>G (p.Ile35550Val) rs1558973830
NM_001267550.2(TTN):c.106654A>T (p.Met35552Leu)
NM_001267550.2(TTN):c.106655T>G (p.Met35552Arg) rs2154131569
NM_001267550.2(TTN):c.106660G>C (p.Glu35554Gln) rs1165517840
NM_001267550.2(TTN):c.106661A>G (p.Glu35554Gly)
NM_001267550.2(TTN):c.106670C>T (p.Ser35557Phe) rs760531226
NM_001267550.2(TTN):c.106679A>T (p.Lys35560Met)
NM_001267550.2(TTN):c.106708G>A (p.Val35570Ile)
NM_001267550.2(TTN):c.106712T>C (p.Leu35571Pro)
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys) rs886055217
NM_001267550.2(TTN):c.106723G>C (p.Glu35575Gln)
NM_001267550.2(TTN):c.106724A>C (p.Glu35575Ala)
NM_001267550.2(TTN):c.106727T>G (p.Val35576Gly) rs144188176
NM_001267550.2(TTN):c.106735T>G (p.Ser35579Ala)
NM_001267550.2(TTN):c.106765G>A (p.Val35589Ile) rs745560169
NM_001267550.2(TTN):c.106766T>C (p.Val35589Ala)
NM_001267550.2(TTN):c.106770T>G (p.His35590Gln) rs1052651705
NM_001267550.2(TTN):c.106771G>C (p.Glu35591Gln) rs935554305
NM_001267550.2(TTN):c.106774G>A (p.Glu35592Lys)
NM_001267550.2(TTN):c.106783A>G (p.Lys35595Glu)
NM_001267550.2(TTN):c.106792C>G (p.Gln35598Glu) rs767339203
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.106835T>C (p.Phe35612Ser)
NM_001267550.2(TTN):c.106841C>G (p.Thr35614Ser) rs2154131436
NM_001267550.2(TTN):c.106852A>G (p.Ile35618Val) rs2154131431
NM_001267550.2(TTN):c.106854A>G (p.Ile35618Met)
NM_001267550.2(TTN):c.106857C>A (p.Asn35619Lys) rs116604145
NM_001267550.2(TTN):c.106889T>C (p.Ile35630Thr)
NM_001267550.2(TTN):c.106894G>A (p.Gly35632Ser)
NM_001267550.2(TTN):c.106894G>C (p.Gly35632Arg)
NM_001267550.2(TTN):c.106895G>T (p.Gly35632Val) rs1210557316
NM_001267550.2(TTN):c.106903G>A (p.Asp35635Asn)
NM_001267550.2(TTN):c.106910A>G (p.Lys35637Arg)
NM_001267550.2(TTN):c.106911A>T (p.Lys35637Asn) rs767045071
NM_001267550.2(TTN):c.106912T>C (p.Trp35638Arg) rs1408667252
NM_001267550.2(TTN):c.106915G>A (p.Val35639Ile) rs557752216
NM_001267550.2(TTN):c.106915G>C (p.Val35639Leu)
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro) rs750550267
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
NM_001267550.2(TTN):c.106928T>C (p.Val35643Ala)
NM_001267550.2(TTN):c.106930G>C (p.Glu35644Gln)
NM_001267550.2(TTN):c.106940A>C (p.Asn35647Thr)
NM_001267550.2(TTN):c.106948G>A (p.Glu35650Lys)
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp) rs886042500
NM_001267550.2(TTN):c.106969G>A (p.Gly35657Ser) rs2154131322
NM_001267550.2(TTN):c.106974C>A (p.Ser35658Arg)
NM_001267550.2(TTN):c.106984C>A (p.Leu35662Ile) rs2154131306
NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val) rs781108499
NM_001267550.2(TTN):c.106991T>G (p.Ile35664Ser) rs1060500501
NM_001267550.2(TTN):c.106996C>A (p.Gln35666Lys)
NM_001267550.2(TTN):c.1069del (p.Ala357fs) rs2154356210
NM_001267550.2(TTN):c.107002A>C (p.Ser35668Arg)
NM_001267550.2(TTN):c.107003G>A (p.Ser35668Asn) rs1687674300
NM_001267550.2(TTN):c.107009G>A (p.Arg35670Lys) rs534961012
NM_001267550.2(TTN):c.107023C>T (p.Leu35675Phe)
NM_001267550.2(TTN):c.107027C>T (p.Thr35676Ile)
NM_001267550.2(TTN):c.107046G>C (p.Lys35682Asn)
NM_001267550.2(TTN):c.107059A>C (p.Lys35687Gln) rs2154131240
NM_001267550.2(TTN):c.107066A>G (p.Gln35689Arg) rs1451601178
NM_001267550.2(TTN):c.107093T>A (p.Leu35698His)
NM_001267550.2(TTN):c.107098G>A (p.Asp35700Asn) rs1575190768
NM_001267550.2(TTN):c.107099A>G (p.Asp35700Gly) rs1060500391
NM_001267550.2(TTN):c.107101G>A (p.Ala35701Thr)
NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu) rs71423567
NM_001267550.2(TTN):c.107125A>G (p.Arg35709Gly)
NM_001267550.2(TTN):c.107126G>T (p.Arg35709Ile)
NM_001267550.2(TTN):c.107143G>A (p.Glu35715Lys)
NM_001267550.2(TTN):c.107158C>A (p.Leu35720Ile)
NM_001267550.2(TTN):c.107173A>G (p.Ile35725Val) rs1687594887
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.107181C>T (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.107191C>T (p.Pro35731Ser) rs1687589442
NM_001267550.2(TTN):c.107199C>G (p.Ile35733Met) rs776237176
NM_001267550.2(TTN):c.107209A>C (p.Lys35737Gln) rs1687580805
NM_001267550.2(TTN):c.107217C>A (p.Asn35739Lys)
NM_001267550.2(TTN):c.107221C>G (p.Pro35741Ala) rs1455118621
NM_001267550.2(TTN):c.107223+3A>C rs2154131091
NM_001267550.2(TTN):c.107223A>G (p.Pro35741=)
NM_001267550.2(TTN):c.107225T>C (p.Ile35742Thr) rs1553479315
NM_001267550.2(TTN):c.107234C>A (p.Ser35745Tyr) rs2154130964
NM_001267550.2(TTN):c.107239A>T (p.Asn35747Tyr)
NM_001267550.2(TTN):c.107248A>G (p.Ile35750Val)
NM_001267550.2(TTN):c.107261G>A (p.Arg35754Lys)
NM_001267550.2(TTN):c.107269T>C (p.Tyr35757His) rs2154130935
NM_001267550.2(TTN):c.107284C>A (p.Arg35762=) rs1477669354
NM_001267550.2(TTN):c.107288A>C (p.Asn35763Thr) rs1687455146
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser) rs879048717
NM_001267550.2(TTN):c.107292A>G (p.Ala35764=) rs1553479171
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
NM_001267550.2(TTN):c.107314T>C (p.Tyr35772His)
NM_001267550.2(TTN):c.107318C>A (p.Thr35773Lys)
NM_001267550.2(TTN):c.107321T>C (p.Ile35774Thr) rs2154130889
NM_001267550.2(TTN):c.107337C>G (p.Phe35779Leu) rs1687437542
NM_001267550.2(TTN):c.107342G>C (p.Gly35781Ala)
NM_001267550.2(TTN):c.107346G>C (p.Gln35782His)
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe) rs1473450556
NM_001267550.2(TTN):c.107353G>T (p.Ala35785Ser)
NM_001267550.2(TTN):c.107370G>C (p.Met35790Ile)
NM_001267550.2(TTN):c.107372T>C (p.Val35791Ala)
NM_001267550.2(TTN):c.107377+3A>G
NM_001267550.2(TTN):c.107377C>T (p.Pro35793Ser) rs1337678636
NM_001267550.2(TTN):c.107378-3C>G rs762133725
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala) rs1553478042
NM_001267550.2(TTN):c.107391A>C (p.Glu35797Asp)
NM_001267550.2(TTN):c.107392C>A (p.Pro35798Thr) rs780544430
NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser) rs780544430
NM_001267550.2(TTN):c.107393C>A (p.Pro35798His)
NM_001267550.2(TTN):c.107395T>C (p.Ser35799Pro)
NM_001267550.2(TTN):c.107405T>C (p.Val35802Ala)
NM_001267550.2(TTN):c.107411T>C (p.Leu35804Ser) rs2154130341
NM_001267550.2(TTN):c.107422G>A (p.Gly35808Ser) rs2154130329
NM_001267550.2(TTN):c.107429C>T (p.Thr35810Ile)
NM_001267550.2(TTN):c.107436G>T (p.Leu35812Phe)
NM_001267550.2(TTN):c.107446T>A (p.Phe35816Ile)
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
NM_001267550.2(TTN):c.107468T>C (p.Met35823Thr)
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
NM_001267550.2(TTN):c.107470T>C (p.Ser35824Pro)
NM_001267550.2(TTN):c.107481G>C (p.Lys35827Asn) rs1255811280
NM_001267550.2(TTN):c.107487G>C (p.Glu35829Asp) rs2154130286
NM_001267550.2(TTN):c.107498_107499delinsAA (p.Ser35833Lys) rs1687011687
NM_001267550.2(TTN):c.107504T>G (p.Phe35835Cys) rs1687009141
NM_001267550.2(TTN):c.107506A>C (p.Ser35836Arg) rs1687008231
NM_001267550.2(TTN):c.107509A>T (p.Ser35837Cys) rs1232738337
NM_001267550.2(TTN):c.107510G>A (p.Ser35837Asn) rs2154130270
NM_001267550.2(TTN):c.107512A>G (p.Ser35838Gly) rs1575176926
NM_001267550.2(TTN):c.107516G>A (p.Ser35839Asn)
NM_001267550.2(TTN):c.107524A>G (p.Ser35842Gly)
NM_001267550.2(TTN):c.107529G>A (p.Met35843Ile)
NM_001267550.2(TTN):c.107540A>G (p.Lys35847Arg) rs1575176578
NM_001267550.2(TTN):c.107552T>A (p.Met35851Lys)
NM_001267550.2(TTN):c.107557G>A (p.Ala35853Thr) rs1553477669
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile) rs1053387515
NM_001267550.2(TTN):c.107565C>G (p.Ser35855Arg) rs1469711405
NM_001267550.2(TTN):c.107577G>A (p.Met35859Ile) rs772602914
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del) rs751689670
NM_001267550.2(TTN):c.107590G>C (p.Val35864Leu) rs746430344
NM_001267550.2(TTN):c.107595A>C (p.Glu35865Asp) rs1686972976
NM_001267550.2(TTN):c.107614A>G (p.Met35872Val)
NM_001267550.2(TTN):c.107623T>C (p.Ser35875Pro)
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1575175498
NM_001267550.2(TTN):c.107631G>A (p.Met35877Ile) rs1686957619
NM_001267550.2(TTN):c.107632A>G (p.Thr35878Ala)
NM_001267550.2(TTN):c.107633C>T (p.Thr35878Ile) rs1686956801
NM_001267550.2(TTN):c.107642A>G (p.Glu35881Gly) rs1686954050
NM_001267550.2(TTN):c.107645G>T (p.Ser35882Ile)
NM_001267550.2(TTN):c.107653A>G (p.Ser35885Gly)
NM_001267550.2(TTN):c.107674A>C (p.Ile35892Leu)
NM_001267550.2(TTN):c.107680+4A>C
NM_001267550.2(TTN):c.107681-3A>C
NM_001267550.2(TTN):c.107684T>C (p.Ile35895Thr) rs2154130013
NM_001267550.2(TTN):c.107687C>T (p.Pro35896Leu) rs767565621
NM_001267550.2(TTN):c.107690C>G (p.Pro35897Arg) rs1558956138
NM_001267550.2(TTN):c.107690C>T (p.Pro35897Leu) rs1558956138
NM_001267550.2(TTN):c.107701_107844del (p.Ala35901_Glu35948del) rs1686739585
NM_001267550.2(TTN):c.107702C>T (p.Ala35901Val)
NM_001267550.2(TTN):c.107707C>T (p.Pro35903Ser)
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.107714A>G (p.Asp35905Gly) rs1558955826
NM_001267550.2(TTN):c.107716A>G (p.Ile35906Val) rs1558955770
NM_001267550.2(TTN):c.107717T>C (p.Ile35906Thr) rs1686809478
NM_001267550.2(TTN):c.107726A>G (p.Asp35909Gly) rs1686804657
NM_001267550.2(TTN):c.107741T>C (p.Leu35914Pro)
NM_001267550.2(TTN):c.107743A>C (p.Thr35915Pro)
NM_001267550.2(TTN):c.107746G>C (p.Val35916Leu) rs1686792927
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala) rs2154129959
NM_001267550.2(TTN):c.107762C>A (p.Thr35921Lys) rs749277200
NM_001267550.2(TTN):c.107768A>C (p.Glu35923Ala) rs2154129939
NM_001267550.2(TTN):c.107770C>G (p.Pro35924Ala)
NM_001267550.2(TTN):c.107774C>A (p.Thr35925Asn) rs755111765
NM_001267550.2(TTN):c.107777C>T (p.Pro35926Leu)
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
NM_001267550.2(TTN):c.107786C>A (p.Thr35929Lys)
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg) rs368277535
NM_001267550.2(TTN):c.107811C>G (p.Ile35937Met)
NM_001267550.2(TTN):c.107817T>G (p.Ser35939Arg)
NM_001267550.2(TTN):c.107821G>C (p.Glu35941Gln)
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile) rs1575169924
NM_001267550.2(TTN):c.107835C>G (p.Phe35945Leu) rs2154129860
NM_001267550.2(TTN):c.107836C>T (p.His35946Tyr) rs1686745897
NM_001267550.2(TTN):c.107839A>G (p.Ile35947Val) rs1553476576
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser) rs281864928
NM_001267550.2(TTN):c.107842_107844dup (p.Glu35948dup) rs2154129846
NM_001267550.2(TTN):c.107844A>C (p.Glu35948Asp)
NM_001267550.2(TTN):c.107851G>T (p.Asp35951Tyr) rs2154129841
NM_001267550.2(TTN):c.107861_107869del (p.Thr35954_Leu35956del)
NM_001267550.2(TTN):c.107864C>T (p.Thr35955Ile) rs370267738
NM_001267550.2(TTN):c.107870T>C (p.Ile35957Thr)
NM_001267550.2(TTN):c.107871C>G (p.Ile35957Met)
NM_001267550.2(TTN):c.107873T>A (p.Ile35958Asn)
NM_001267550.2(TTN):c.107875A>G (p.Met35959Val) rs1220326083
NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile) rs780886524
NM_001267550.2(TTN):c.107903T>C (p.Leu35968Pro) rs1686710377
NM_001267550.2(TTN):c.107903T>G (p.Leu35968Arg) rs1686710377
NM_001267550.2(TTN):c.107909C>T (p.Thr35970Ile) rs765869850
NM_001267550.2(TTN):c.107911_107912del (p.Leu35971fs) rs2154129791
NM_001267550.2(TTN):c.107912T>A (p.Leu35971Gln) rs1686706196
NM_001267550.2(TTN):c.107926G>T (p.Glu35976Ter) rs1259397789
NM_001267550.2(TTN):c.107933G>A (p.Gly35978Glu) rs2154129775
NM_001267550.2(TTN):c.107947A>C (p.Thr35983Pro)
NM_001267550.2(TTN):c.107960A>G (p.His35987Arg)
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter) rs770506970
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.10825G>T (p.Glu3609Ter)
NM_001267550.2(TTN):c.10834G>C (p.Val3612Leu) rs1352067592
NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)
NM_001267550.2(TTN):c.11191del (p.Ser3731fs)
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn) rs1243794346
NM_001267550.2(TTN):c.11252_11253delinsAA (p.Gly3751Glu) rs1553967105
NM_001267550.2(TTN):c.11288_11289del (p.Gln3763fs) rs1574322133
NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter) rs932770906
NM_001267550.2(TTN):c.11310del (p.Glu3771fs) rs2086020099
NM_001267550.2(TTN):c.11311+1G>T rs1553963537
NM_001267550.2(TTN):c.11324C>T (p.Ser3775Phe) rs892763465
NM_001267550.2(TTN):c.11412del (p.Pro3805fs) rs2082534727
NM_001267550.2(TTN):c.11421_11422delinsGT (p.Tyr3807_Pro3808delinsTer)
NM_001267550.2(TTN):c.11444del (p.Lys3815fs) rs1574099951
NM_001267550.2(TTN):c.11495del (p.Ser3832fs)
NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs) rs2154319069
NM_001267550.2(TTN):c.11637del (p.Leu3880fs) rs1560926034
NM_001267550.2(TTN):c.11754del (p.Asp3918fs) rs2154318864
NM_001267550.2(TTN):c.11825A>C (p.Lys3942Thr) rs1060500569
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)
NM_001267550.2(TTN):c.11843G>T (p.Arg3948Leu) rs775618077
NM_001267550.2(TTN):c.1185C>A (p.Ala395=) rs372346898
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr) rs200052202
NM_001267550.2(TTN):c.11871dup (p.Glu3958Ter) rs2082452692
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met) rs1017307763
NM_001267550.2(TTN):c.118T>C (p.Phe40Leu) rs1554045595
NM_001267550.2(TTN):c.11903C>T (p.Thr3968Ile) rs1416083040
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter) rs749961489
NM_001267550.2(TTN):c.12066T>G (p.Cys4022Trp) rs931245340
NM_001267550.2(TTN):c.1206del (p.Ser403fs)
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser) rs758968807
NM_001267550.2(TTN):c.12117del (p.Cys4040fs) rs1560918374
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12239del (p.Ile4079_Leu4080insTer) rs2082383767
NM_001267550.2(TTN):c.1224T>C (p.Ala408=) rs2093688642
NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)
NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter) rs2154318496
NM_001267550.2(TTN):c.12289del (p.Ile4097fs)
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter) rs1553940122
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12345del (p.Gln4115fs)
NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter) rs746184552
NM_001267550.2(TTN):c.12397_12505dup (p.Pro4169fs) rs1553939638
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)
NM_001267550.2(TTN):c.1246-2A>G rs2154355995
NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter) rs745720217
NM_001267550.2(TTN):c.12478del (p.Thr4160fs) rs2154318358
NM_001267550.2(TTN):c.12482del (p.Phe4161fs)
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) rs1553939605
NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)
NM_001267550.2(TTN):c.12583_12586del (p.Asn4195fs) rs2082328931
NM_001267550.2(TTN):c.12612_12625del (p.Thr4204_Leu4205insTer) rs1574081963
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser) rs1553939161
NM_001267550.2(TTN):c.12680C>A (p.Thr4227Asn) rs777055785
NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter) rs1253161767
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter) rs794729308
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs) rs2154318180
NM_001267550.2(TTN):c.12754_12755del (p.Leu4252fs)
NM_001267550.2(TTN):c.12766G>A (p.Glu4256Lys) rs1560908997
NM_001267550.2(TTN):c.12817G>A (p.Glu4273Lys) rs1553938808
NM_001267550.2(TTN):c.12823C>T (p.Leu4275Phe) rs773905874
NM_001267550.2(TTN):c.12869del (p.Leu4290fs)
NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)
NM_001267550.2(TTN):c.12895G>C (p.Glu4299Gln) rs1430420761
NM_001267550.2(TTN):c.12897dup (p.Gly4300fs) rs2082273335
NM_001267550.2(TTN):c.12937A>G (p.Asn4313Asp) rs1553938408
NM_001267550.2(TTN):c.12943_12950dup (p.Asp4317fs)
NM_001267550.2(TTN):c.1296del (p.Val433fs) rs2093669726
NM_001267550.2(TTN):c.12972del (p.Gly4325fs) rs2082260794
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val) rs1478114976
NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter) rs757979946
NM_001267550.2(TTN):c.13075T>C (p.Ser4359Pro) rs1060500434
NM_001267550.2(TTN):c.13083del (p.Glu4362fs) rs2154317986
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs) rs1553937967
NM_001267550.2(TTN):c.13115_13118dup (p.Gln4373fs)
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs) rs2082227467
NM_001267550.2(TTN):c.13128C>A (p.Asp4376Glu) rs759726422
NM_001267550.2(TTN):c.13144dup (p.Ser4382fs) rs1560902834
NM_001267550.2(TTN):c.13157del (p.Gly4386fs)
NM_001267550.2(TTN):c.1318G>A (p.Glu440Lys) rs747410439
NM_001267550.2(TTN):c.13201del (p.Arg4401fs)
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser) rs727503656
NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)
NM_001267550.2(TTN):c.13335del (p.Thr4446fs)
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)
NM_001267550.2(TTN):c.13382_13383del (p.Asp4461fs)
NM_001267550.2(TTN):c.13397del (p.Met4466fs)
NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter) rs903809826
NM_001267550.2(TTN):c.13435G>A (p.Ala4479Thr) rs776871094
NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)
NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)
NM_001267550.2(TTN):c.13459A>G (p.Ile4487Val) rs1553937057
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg) rs878854287
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)
NM_001267550.2(TTN):c.1360_1365delinsCATCCA (p.Thr454_Thr455delinsHisPro) rs2154355944
NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter) rs2154317658
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) rs200422152
NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter) rs2154317609
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
NM_001267550.2(TTN):c.13759_13772delinsTTCTTTGTTATTTTTAAACCAAGTAACCTGGATCACAGGTGAGCCTTTCAGCTTGCAATGGAGGCGTGCTGATTCACCTGGGAGCATTAAATAAGAGGGATCCACCTTCTTCACGAAGGATGGTGGCTCTACATGAAGTTTACAAA (p.Glu4587_Val4591delinsPhePheValIlePheLysProSerAsnLeuAspHisArgTer)
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)
NM_001267550.2(TTN):c.13821G>T (p.Met4607Ile) rs1553936266
NM_001267550.2(TTN):c.13838_13839del (p.Val4613fs) rs2154317516
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)
NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter) rs794729388
NM_001267550.2(TTN):c.13934C>A (p.Pro4645His) rs1553936055
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.13945A>G (p.Lys4649Glu) rs1060500392
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter) rs747289468
NM_001267550.2(TTN):c.1398+320_1624del
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14014C>A (p.Gln4672Lys) rs1553935908
NM_001267550.2(TTN):c.14092+1G>A
NM_001267550.2(TTN):c.14118C>G (p.Ile4706Met) rs267599072
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg) rs753558755
NM_001267550.2(TTN):c.14171A>G (p.Gln4724Arg) rs1553934896
NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter) rs2154355442
NM_001267550.2(TTN):c.14188C>A (p.Arg4730=) rs749719834
NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)
NM_001267550.2(TTN):c.14287del (p.Gln4763fs) rs1560880125
NM_001267550.2(TTN):c.14320G>A (p.Ala4774Thr) rs1404878972
NM_001267550.2(TTN):c.14337_14341dup (p.Val4781fs) rs2154316604
NM_001267550.2(TTN):c.14367_14368insT (p.Thr4790fs)
NM_001267550.2(TTN):c.14371+3A>G rs2154316576
NM_001267550.2(TTN):c.14371G>A (p.Glu4791Lys)
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe) rs2081388048
NM_001267550.2(TTN):c.14452dup (p.Val4818fs) rs2154314529
NM_001267550.2(TTN):c.14476del (p.Thr4826fs) rs1220176907
NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)
NM_001267550.2(TTN):c.14510C>G (p.Pro4837Arg)
NM_001267550.2(TTN):c.14513_14517del (p.Pro4837_Ser4838insTer) rs2154314476
NM_001267550.2(TTN):c.14676del (p.Glu4893fs)
NM_001267550.2(TTN):c.14709G>C (p.Lys4903Asn) rs1060500444
NM_001267550.2(TTN):c.1470del (p.Glu490fs) rs2093617332
NM_001267550.2(TTN):c.14710A>T (p.Lys4904Ter) rs1560853002
NM_001267550.2(TTN):c.14713G>T (p.Val4905Phe) rs774495507
NM_001267550.2(TTN):c.14753C>T (p.Thr4918Ile) rs749179515
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala) rs201744218
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His) rs1443901302
NM_001267550.2(TTN):c.15007T>A (p.Cys5003Ser) rs1553930348
NM_001267550.2(TTN):c.15177C>A (p.Asp5059Glu) rs74607159
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15181G>T (p.Gly5061Cys) rs1441268700
NM_001267550.2(TTN):c.15218-2A>G rs1004898711
NM_001267550.2(TTN):c.15224C>T (p.Pro5075Leu) rs1553929816
NM_001267550.2(TTN):c.15263G>A (p.Arg5088Lys) rs766300782
NM_001267550.2(TTN):c.15277C>G (p.Leu5093Val) rs764663290
NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter) rs755339616
NM_001267550.2(TTN):c.1536+1G>A rs2093614668
NM_001267550.2(TTN):c.1536+1G>T
NM_001267550.2(TTN):c.1536+3G>A rs1414333301
NM_001267550.2(TTN):c.1537-1G>C
NM_001267550.2(TTN):c.1545_1549del (p.Lys515fs)
NM_001267550.2(TTN):c.15464A>C (p.Lys5155Thr) rs727504207
NM_001267550.2(TTN):c.15475A>G (p.Met5159Val) rs1553929310
NM_001267550.2(TTN):c.15496+4A>G
NM_001267550.2(TTN):c.15496+5G>C
NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)
NM_001267550.2(TTN):c.15497-2A>G rs1232334931
NM_001267550.2(TTN):c.15497-4C>G rs2080975329
NM_001267550.2(TTN):c.1551_1552del (p.Glu518fs) rs2154354703
NM_001267550.2(TTN):c.15527del (p.Asp5176fs)
NM_001267550.2(TTN):c.15576del (p.Ser5194fs) rs1578202642
NM_001267550.2(TTN):c.15605T>C (p.Met5202Thr) rs764755768
NM_001267550.2(TTN):c.15615_15622del (p.Gln5205fs)
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=) rs1311178060
NM_001267550.2(TTN):c.15952del (p.Leu5318fs) rs778392667
NM_001267550.2(TTN):c.16023C>A (p.Ser5341Arg) rs1553927522
NM_001267550.2(TTN):c.16048del (p.Val5350fs)
NM_001267550.2(TTN):c.16055-3C>G
NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter) rs267599069
NM_001267550.2(TTN):c.16077del (p.Phe5359fs) rs2080842093
NM_001267550.2(TTN):c.16093A>C (p.Asn5365His) rs878854288
NM_001267550.2(TTN):c.16133G>A (p.Cys5378Tyr) rs754271006
NM_001267550.2(TTN):c.16138A>G (p.Ile5380Val) rs1280725528
NM_001267550.2(TTN):c.1621_1622insCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACTAGAATTTCTG (p.Glu541delinsAlaLeuLeuValPheLeuArgPheValLysAspGlnIleValValAspMetArgHisTyrPheTer) rs2093537697
NM_001267550.2(TTN):c.16244_16248delinsCTGTCT (p.Glu5415fs) rs2080810704
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=) rs772821743
NM_001267550.2(TTN):c.16342+5G>C rs950440116
NM_001267550.2(TTN):c.16356del (p.Phe5452fs)
NM_001267550.2(TTN):c.16446A>G (p.Arg5482=) rs1426268579
NM_001267550.2(TTN):c.16489T>A (p.Tyr5497Asn) rs1279249843
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter) rs2154310403
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=) rs886055297
NM_001267550.2(TTN):c.1662+2T>G rs2154354670
NM_001267550.2(TTN):c.1662+5G>A rs1021479898
NM_001267550.2(TTN):c.16622-3C>G
NM_001267550.2(TTN):c.16693T>C (p.Cys5565Arg) rs1228967454
NM_001267550.2(TTN):c.16713del (p.Pro5572fs)
NM_001267550.2(TTN):c.16776G>A (p.Met5592Ile) rs879188937
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser) rs1060500588
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met) rs1321890564
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer) rs2154309910
NM_001267550.2(TTN):c.1688C>T (p.Ala563Val) rs2093449486
NM_001267550.2(TTN):c.16903+2T>C rs1060500574
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu) rs1553925181
NM_001267550.2(TTN):c.1696A>G (p.Met566Val) rs987302368
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
NM_001267550.2(TTN):c.17182+1G>A
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del) rs1060500441
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn) rs1060500502
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer) rs1392541002
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile) rs1553924253
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=) rs2080475152
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg) rs572678771
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val) rs1409068952
NM_001267550.2(TTN):c.17461+1G>A
NM_001267550.2(TTN):c.17461+1G>C rs747990127
NM_001267550.2(TTN):c.17461+5G>C
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile) rs2154308873
NM_001267550.2(TTN):c.1759_1763del (p.Thr587fs) rs1024367270
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)
NM_001267550.2(TTN):c.1771C>G (p.Gln591Glu) rs747286444
NM_001267550.2(TTN):c.17741-1G>A rs2154308493
NM_001267550.2(TTN):c.17773C>A (p.Leu5925Met) rs750909367
NM_001267550.2(TTN):c.17823del (p.Ile5941fs) rs2154308403
NM_001267550.2(TTN):c.17875A>G (p.Ile5959Val) rs1060500508
NM_001267550.2(TTN):c.17992G>A (p.Gly5998Arg) rs757934638
NM_001267550.2(TTN):c.1801-2A>G
NM_001267550.2(TTN):c.18028+1G>A rs1560786548
NM_001267550.2(TTN):c.18028+2T>C rs1553922787
NM_001267550.2(TTN):c.18028+6C>A
NM_001267550.2(TTN):c.18089A>G (p.Gln6030Arg) rs1560784359
NM_001267550.2(TTN):c.18307+2T>C rs2154307882
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg) rs1553921829
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro) rs2080087332
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys) rs1280788914
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter) rs2154307591
NM_001267550.2(TTN):c.18411_18412insSVAelement
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn) rs2080068286
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val) rs886055296
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His) rs746345160
NM_001267550.2(TTN):c.18690C>T (p.Val6230=) rs754536598
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala) rs1553920950
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter) rs2079975361
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg) rs1553920476
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val) rs1060500522
NM_001267550.2(TTN):c.19180del (p.Val6394fs) rs1560763939
NM_001267550.2(TTN):c.19229del (p.Gly6410fs) rs2079812566
NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)
NM_001267550.2(TTN):c.1923A>C (p.Gln641His) rs886055308
NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter) rs2154306627
NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter) rs267599063
NM_001267550.2(TTN):c.19357G>A (p.Gly6453Ser) rs374964612
NM_001267550.2(TTN):c.19365del (p.Gln6454_Tyr6455insTer)
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser) rs2079785463
NM_001267550.2(TTN):c.1938+1G>T rs774414270
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.19458dup (p.Leu6487fs) rs2079736561
NM_001267550.2(TTN):c.19567A>G (p.Thr6523Ala) rs1560756818
NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter) rs746828415
NM_001267550.2(TTN):c.19601_19602del (p.Arg6534fs) rs1064796380
NM_001267550.2(TTN):c.19605del (p.Val6536fs) rs2079698337
NM_001267550.2(TTN):c.1961del (p.Thr654fs) rs2154353364
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp) rs763912778
NM_001267550.2(TTN):c.19714+1G>T rs1060500423
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) rs794727829
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=) rs1560749476
NM_001267550.2(TTN):c.19993+5G>A rs907914759
NM_001267550.2(TTN):c.19994-7T>G rs1292778822
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met) rs1553917765
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp) rs794729619
NM_001267550.2(TTN):c.20276-1G>C rs2154304651
NM_001267550.2(TTN):c.20276-5del rs779654489
NM_001267550.2(TTN):c.20324del (p.Asn6775fs) rs1578084690
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr) rs886055295
NM_001267550.2(TTN):c.20402_20405del (p.Leu6801fs)
NM_001267550.2(TTN):c.20438del (p.Asn6813fs) rs2154304574
NM_001267550.2(TTN):c.20441_20448del (p.Asn6813_Phe6814insTer) rs2154304568
NM_001267550.2(TTN):c.20455C>T (p.His6819Tyr) rs1553916130
NM_001267550.2(TTN):c.20484C>G (p.Ile6828Met) rs563320328
NM_001267550.2(TTN):c.20622del (p.Ala6875fs) rs2079200580
NM_001267550.2(TTN):c.20626T>A (p.Ser6876Thr) rs1359024577
NM_001267550.2(TTN):c.20667del (p.Glu6890fs)
NM_001267550.2(TTN):c.20707A>G (p.Ile6903Val) rs571675433
NM_001267550.2(TTN):c.20719del (p.Glu6907fs)
NM_001267550.2(TTN):c.20738del (p.Gln6913fs) rs2154304293
NM_001267550.2(TTN):c.2073A>T (p.Gly691=) rs72647860
NM_001267550.2(TTN):c.2076G>A (p.Lys692=) rs1333188525
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn) rs369993514
NM_001267550.2(TTN):c.20836+2T>C rs776932740
NM_001267550.2(TTN):c.20837-1G>A rs1553914337
NM_001267550.2(TTN):c.2083G>T (p.Val695Phe) rs747479318
NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)
NM_001267550.2(TTN):c.2093del (p.Lys698fs) rs2154351778
NM_001267550.2(TTN):c.209del (p.Val70fs) rs2094105154
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=) rs879237670
NM_001267550.2(TTN):c.21220del (p.Ser7074fs) rs2078907250
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys) rs773211607
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile) rs878978917
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21403+2T>G
NM_001267550.2(TTN):c.21403+5G>A rs1560709207
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys) rs779787316
NM_001267550.2(TTN):c.21404-1G>C
NM_001267550.2(TTN):c.21404-3_21404-1delinsA rs2078833835
NM_001267550.2(TTN):c.21488C>A (p.Thr7163Asn) rs370324138
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr) rs786205314
NM_001267550.2(TTN):c.21507del (p.Trp7170fs) rs1578046154
NM_001267550.2(TTN):c.2162G>C (p.Gly721Ala) rs1554022851
NM_001267550.2(TTN):c.21641A>G (p.Asn7214Ser) rs755600935
NM_001267550.2(TTN):c.21683-2A>G
NM_001267550.2(TTN):c.21705A>T (p.Arg7235Ser) rs772506057
NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)
NM_001267550.2(TTN):c.21799G>A (p.Gly7267Ser) rs772450876
NM_001267550.2(TTN):c.21833_21834del (p.Ile7278fs) rs2154302656
NM_001267550.2(TTN):c.21907G>C (p.Glu7303Gln) rs774950387
NM_001267550.2(TTN):c.21912del (p.Ile7304fs) rs2078700148
NM_001267550.2(TTN):c.21914A>C (p.Glu7305Ala) rs1553911785
NM_001267550.2(TTN):c.21961+1G>C rs2078690809
NM_001267550.2(TTN):c.21964C>T (p.Pro7322Ser) rs1553911632
NM_001267550.2(TTN):c.22024T>G (p.Leu7342Val) rs1243764269
NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter) rs886043434
NM_001267550.2(TTN):c.22034_22037del (p.Gln7345fs)
NM_001267550.2(TTN):c.22039G>A (p.Ala7347Thr) rs1553911494
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer) rs794727888
NM_001267550.2(TTN):c.22240+1G>A rs2078612090
NM_001267550.2(TTN):c.22273_22276del (p.Leu7425fs) rs1553910811
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.22293_22303del (p.Val7432fs) rs1560692247
NM_001267550.2(TTN):c.22309dup (p.Thr7437fs) rs2154302053
NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)
NM_001267550.2(TTN):c.22343T>C (p.Ile7448Thr) rs878854293
NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter) rs2078556781
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg) rs1060500493
NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)
NM_001267550.2(TTN):c.22528+12C>T rs756012779
NM_001267550.2(TTN):c.22528+4del rs1578022549
NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)
NM_001267550.2(TTN):c.2254C>A (p.Arg752Ser)
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=) rs2078449618
NM_001267550.2(TTN):c.22693T>C (p.Cys7565Arg) rs757611239
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met) rs2078438102
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs) rs2154301477
NM_001267550.2(TTN):c.22725_22726insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGTTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCGAGAATTCTT (p.Lys7576delinsPhePhePhePhePhePheXaaXaaXaaXaaProSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGluAsnSerTer) rs2154301480
NM_001267550.2(TTN):c.22741G>T (p.Asp7581Tyr) rs1433348204
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs) rs1211248610
NM_001267550.2(TTN):c.22888T>C (p.Cys7630Arg) rs1553908536
NM_001267550.2(TTN):c.22907del (p.Pro7636fs) rs2078291953
NM_001267550.2(TTN):c.23000C>G (p.Thr7667Arg) rs374430623
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23068G>T (p.Ala7690Ser) rs763029699
NM_001267550.2(TTN):c.23098+1G>T rs2154300949
NM_001267550.2(TTN):c.23098+3del rs2154300948
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val) rs751284978
NM_001267550.2(TTN):c.23201_23212dup (p.Val7734_Lys7737dup) rs1451740768
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)
NM_001267550.2(TTN):c.2320G>A (p.Glu774Lys) rs1554022511
NM_001267550.2(TTN):c.23273dup (p.Ser7758fs) rs2154300674
NM_001267550.2(TTN):c.23305G>A (p.Val7769Ile) rs1553907172
NM_001267550.2(TTN):c.23369dup (p.Phe7791fs)
NM_001267550.2(TTN):c.23373C>A (p.Phe7791Leu) rs1553907020
NM_001267550.2(TTN):c.23377+2T>C rs2154300619
NM_001267550.2(TTN):c.23399dup (p.Leu7801fs)
NM_001267550.2(TTN):c.2341G>T (p.Asp781Tyr) rs1554022470
NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp) rs528264100
NM_001267550.2(TTN):c.23467C>A (p.Pro7823Thr) rs768540966
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro) rs1553906488
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met) rs1334032406
NM_001267550.2(TTN):c.23608dup (p.Ile7870fs) rs2154300414
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val) rs1553906392
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala) rs2078098721
NM_001267550.2(TTN):c.23660-13CTT[2] rs563250569
NM_001267550.2(TTN):c.23694G>A (p.Met7898Ile) rs751897366
NM_001267550.2(TTN):c.2370+5G>A
NM_001267550.2(TTN):c.2370+5G>C rs1554022409
NM_001267550.2(TTN):c.2370G>A (p.Gln790=)
NM_001267550.2(TTN):c.2371-2A>G
NM_001267550.2(TTN):c.23729G>T (p.Cys7910Phe) rs763596594
NM_001267550.2(TTN):c.23797A>G (p.Ser7933Gly) rs1553905723
NM_001267550.2(TTN):c.23811del (p.Thr7938fs)
NM_001267550.2(TTN):c.23817C>G (p.Phe7939Leu) rs866647945
NM_001267550.2(TTN):c.23939-1G>T
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs) rs1060500528
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met) rs1060500564
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala) rs750389762
NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter) rs794727941
NM_001267550.2(TTN):c.24037C>A (p.Pro8013Thr) rs1553904936
NM_001267550.2(TTN):c.24075del (p.Ile8025fs) rs2154300014
NM_001267550.2(TTN):c.24137T>C (p.Leu8046Ser) rs1553904761
NM_001267550.2(TTN):c.24226+5G>T rs2077956888
NM_001267550.2(TTN):c.24226G>A (p.Glu8076Lys)
NM_001267550.2(TTN):c.24227-2A>G
NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)
NM_001267550.2(TTN):c.24253G>A (p.Asp8085Asn) rs1553904192
NM_001267550.2(TTN):c.2435C>T (p.Ala812Val) rs372040052
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.24447_24450del (p.Cys8150fs) rs2077885583
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=) rs1162009739
NM_001267550.2(TTN):c.24697del (p.Ser8233fs)
NM_001267550.2(TTN):c.24708_24710del (p.Glu8236del) rs771555243
NM_001267550.2(TTN):c.24784+3G>A rs2154299473
NM_001267550.2(TTN):c.24784+6T>G rs1560640894
NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)
NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter) rs1577954678
NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter) rs2154299355
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.24946_24947delinsT (p.Asn8316fs) rs1577952992
NM_001267550.2(TTN):c.24962T>C (p.Leu8321Ser) rs1577952583
NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys) rs879030954
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001267550.2(TTN):c.2502A>G (p.Ile834Met) rs752214647
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val) rs747055472
NM_001267550.2(TTN):c.25063+1G>A rs754247415
NM_001267550.2(TTN):c.25063+5T>A rs1553902318
NM_001267550.2(TTN):c.25064-1G>A
NM_001267550.2(TTN):c.25064-2A>G
NM_001267550.2(TTN):c.2506G>T (p.Gly836Cys) rs751157908
NM_001267550.2(TTN):c.25105G>A (p.Val8369Ile) rs755722481
NM_001267550.2(TTN):c.25117_25118del (p.Leu8373fs) rs2077711392
NM_001267550.2(TTN):c.25154G>C (p.Gly8385Ala) rs775560531
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro) rs2077698375
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys) rs750195208
NM_001267550.2(TTN):c.25249C>T (p.Leu8417Phe) rs774234445
NM_001267550.2(TTN):c.25270C>G (p.Gln8424Glu) rs370668637
NM_001267550.2(TTN):c.25351+4A>G
NM_001267550.2(TTN):c.25351+5G>A
NM_001267550.2(TTN):c.25476T>A (p.Asp8492Glu) rs777349143
NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter) rs794727945
NM_001267550.2(TTN):c.25521A>G (p.Val8507=) rs886055293
NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)
NM_001267550.2(TTN):c.25600G>T (p.Ala8534Ser) rs779163897
NM_001267550.2(TTN):c.25639+2T>C rs769452066
NM_001267550.2(TTN):c.25639G>C (p.Glu8547Gln) rs1060500447
NM_001267550.2(TTN):c.25662_25663delinsTT (p.Lys8554Asn) rs1553898915
NM_001267550.2(TTN):c.25699A>G (p.Thr8567Ala) rs777832511
NM_001267550.2(TTN):c.25707_25708inv (p.Glu8570Lys)
NM_001267550.2(TTN):c.25739_25740del (p.Lys8580fs)
NM_001267550.2(TTN):c.2575del (p.Ser858_Val859insTer)
NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)
NM_001267550.2(TTN):c.25921G>A (p.Glu8641Lys) rs1553898323
NM_001267550.2(TTN):c.25922-1G>C rs2154297723
NM_001267550.2(TTN):c.25937G>T (p.Arg8646Leu) rs144587343
NM_001267550.2(TTN):c.25971A>T (p.Gly8657=) rs1060500547
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu) rs2077292301
NM_001267550.2(TTN):c.2601dup (p.Glu868Ter)
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter) rs794729389
NM_001267550.2(TTN):c.26028del (p.Trp8676fs) rs758533436
NM_001267550.2(TTN):c.26068A>C (p.Lys8690Gln) rs1060500411
NM_001267550.2(TTN):c.26081A>C (p.Glu8694Ala) rs1553897407
NM_001267550.2(TTN):c.26093C>G (p.Thr8698Ser) rs1060500461
NM_001267550.2(TTN):c.26118_26119del (p.Ala8707fs) rs2077273106
NM_001267550.2(TTN):c.26144G>T (p.Cys8715Phe) rs183499397
NM_001267550.2(TTN):c.26170G>A (p.Asp8724Asn) rs756034176
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn) rs1060500488
NM_001267550.2(TTN):c.26240del (p.Thr8747fs) rs1553896398
NM_001267550.2(TTN):c.26261A>T (p.Gln8754Leu) rs1060500568
NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter) rs2077159790
NM_001267550.2(TTN):c.2628del (p.Leu878fs)
NM_001267550.2(TTN):c.2640_2656del (p.Gln880fs)
NM_001267550.2(TTN):c.26482+1G>A rs1440418037
NM_001267550.2(TTN):c.26482+5G>A rs1060500590
NM_001267550.2(TTN):c.26574_26581dup (p.Thr8861fs) rs2077097661
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly) rs2077094217
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly) rs776032171
NM_001267550.2(TTN):c.26624A>T (p.Lys8875Ile)
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser) rs72648991
NM_001267550.2(TTN):c.26719C>G (p.Pro8907Ala) rs764261158
NM_001267550.2(TTN):c.26719C>T (p.Pro8907Ser) rs764261158
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[3] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.26762-9delins34
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter) rs1250796004
NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)
NM_001267550.2(TTN):c.26905_26906del (p.Gly8969fs) rs2154296494
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe) rs878969676
NM_001267550.2(TTN):c.26952del (p.Thr8984_Val8985insTer)
NM_001267550.2(TTN):c.27030T>A (p.Ser9010Arg) rs774115714
NM_001267550.2(TTN):c.27121A>G (p.Ile9041Val) rs1395755933
NM_001267550.2(TTN):c.27168del (p.Ser9056fs) rs2076867354
NM_001267550.2(TTN):c.2716A>G (p.Ile906Val) rs1304074202
NM_001267550.2(TTN):c.27224_27228del (p.Glu9075fs) rs1553892376
NM_001267550.2(TTN):c.27310_27314del (p.Thr9104fs)
NM_001267550.2(TTN):c.27328+1del
NM_001267550.2(TTN):c.27328G>A (p.Ala9110Thr) rs2076840796
NM_001267550.2(TTN):c.27382C>A (p.Pro9128Thr) rs1283675898
NM_001267550.2(TTN):c.27385dup (p.Leu9129fs)
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro) rs376922544
NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter) rs2076800953
NM_001267550.2(TTN):c.27495dup (p.Ser9166fs)
NM_001267550.2(TTN):c.27513del (p.Pro9172fs) rs794729378
NM_001267550.2(TTN):c.27532G>A (p.Asp9178Asn) rs727504202
NM_001267550.2(TTN):c.27532G>T (p.Asp9178Tyr) rs727504202
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_001267550.2(TTN):c.27602T>C (p.Ile9201Thr) rs911557684
NM_001267550.2(TTN):c.27607+5G>A rs2154295977
NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)
NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)
NM_001267550.2(TTN):c.2775+1G>T rs1057346353
NM_001267550.2(TTN):c.27765del (p.Phe9255fs)
NM_001267550.2(TTN):c.27856G>C (p.Val9286Leu) rs777547707
NM_001267550.2(TTN):c.27886+1G>T rs2076721233
NM_001267550.2(TTN):c.27886+3G>A rs750753011
NM_001267550.2(TTN):c.278C>G (p.Ala93Gly) rs1473207810
NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)
NM_001267550.2(TTN):c.28032C>A (p.Ser9344Arg) rs1338895544
NM_001267550.2(TTN):c.28034C>T (p.Pro9345Leu) rs878854296
NM_001267550.2(TTN):c.2812del (p.Ile938fs)
NM_001267550.2(TTN):c.28131C>A (p.Asn9377Lys) rs72648997
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys) rs760466007
NM_001267550.2(TTN):c.28240G>T (p.Ala9414Ser) rs794729635
NM_001267550.2(TTN):c.2824C>T (p.Pro942Ser) rs1060500550
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=) rs886055290
NM_001267550.2(TTN):c.28328A>T (p.Tyr9443Phe) rs1553888051
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg) rs777096848
NM_001267550.2(TTN):c.28354G>C (p.Ala9452Pro) rs527663092
NM_001267550.2(TTN):c.28379del (p.Asp9460fs)
NM_001267550.2(TTN):c.28391C>T (p.Ser9464Phe) rs1553887984
NM_001267550.2(TTN):c.2841+1G>C rs2154350493
NM_001267550.2(TTN):c.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.28433A>C (p.Asp9478Ala) rs1553887887
NM_001267550.2(TTN):c.28469_28488del (p.Leu9490fs)
NM_001267550.2(TTN):c.28480A>T (p.Ser9494Cys) rs1553886767
NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter) rs2154294487
NM_001267550.2(TTN):c.28524del (p.Asn9509fs) rs1489175898
NM_001267550.2(TTN):c.28667C>T (p.Ala9556Val) rs1060500482
NM_001267550.2(TTN):c.28674G>C (p.Met9558Ile) rs868771235
NM_001267550.2(TTN):c.2868del (p.Gly957fs) rs794729355
NM_001267550.2(TTN):c.28726C>G (p.Leu9576Val) rs780753483
NM_001267550.2(TTN):c.28753+1G>A
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly) rs200856239
NM_001267550.2(TTN):c.28795G>A (p.Val9599Ile) rs887090503
NM_001267550.2(TTN):c.2882C>G (p.Thr961Ser) rs1554018432
NM_001267550.2(TTN):c.28856T>C (p.Ile9619Thr)
NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter) rs1553883443
NM_001267550.2(TTN):c.28909_28922del (p.Cys9636_Ser9637insTer)
NM_001267550.2(TTN):c.28993del (p.Ser9665fs)
NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter) rs886042115
NM_001267550.2(TTN):c.29042-2del rs2075975847
NM_001267550.2(TTN):c.29048C>T (p.Pro9683Leu) rs794729399
NM_001267550.2(TTN):c.29070dup (p.Lys9691fs)
NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)
NM_001267550.2(TTN):c.29099_29100del (p.Phe9700fs)
NM_001267550.2(TTN):c.29100dup (p.Val9701fs) rs796065340
NM_001267550.2(TTN):c.29134+3A>G rs2154292612
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser) rs4893852
NM_001267550.2(TTN):c.29185G>T (p.Val9729Phe) rs1060500451
NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)
NM_001267550.2(TTN):c.29212_29218del (p.Gln9738fs) rs2154292470
NM_001267550.2(TTN):c.29230C>G (p.Arg9744Gly) rs375266859
NM_001267550.2(TTN):c.29240_29241del (p.Ile9747fs)
NM_001267550.2(TTN):c.29334del (p.Glu9779fs)
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=) rs1560529237
NM_001267550.2(TTN):c.2941_2942insC (p.Tyr981fs) rs2154350090
NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)
NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)
NM_001267550.2(TTN):c.29464G>T (p.Asp9822Tyr) rs758873870
NM_001267550.2(TTN):c.29512_29513insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATATGAAAAAT (p.Tyr9838delinsTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysArgIleTer) rs2154291624
NM_001267550.2(TTN):c.29597A>G (p.His9866Arg) rs878919397
NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)
NM_001267550.2(TTN):c.29694+5A>T
NM_001267550.2(TTN):c.29695-1G>T
NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile) rs878854297
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly) rs1340062320
NM_001267550.2(TTN):c.2980_2995del (p.Gln994fs)
NM_001267550.2(TTN):c.29857G>A (p.Gly9953Ser) rs770212603
NM_001267550.2(TTN):c.29965C>A (p.Pro9989Thr) rs1553877891
NM_001267550.2(TTN):c.29984T>A (p.Leu9995His) rs1060500554
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs) rs1574771625
NM_001267550.2(TTN):c.30091dup (p.Gln10031fs) rs1553877628
NM_001267550.2(TTN):c.30139A>T (p.Ile10047Phe) rs1553877530
NM_001267550.2(TTN):c.30223+1G>T
NM_001267550.2(TTN):c.30223+3G>A
NM_001267550.2(TTN):c.30223G>C (p.Ala10075Pro)
NM_001267550.2(TTN):c.30299A>C (p.Glu10100Ala) rs1060500579
NM_001267550.2(TTN):c.302C>T (p.Thr101Ile) rs879185669
NM_001267550.2(TTN):c.30325A>C (p.Thr10109Pro) rs2075197256
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs) rs2154290001
NM_001267550.2(TTN):c.30358_30359del (p.Ser10120fs) rs2154290001
NM_001267550.2(TTN):c.30433+2T>G rs1060500504
NM_001267550.2(TTN):c.30433+3G>C
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile) rs1553875094
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser) rs1577672002
NM_001267550.2(TTN):c.30455G>A (p.Arg10152Gln) rs375796685
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=) rs764333790
NM_001267550.2(TTN):c.30476del (p.Ala10159fs) rs2154289805
NM_001267550.2(TTN):c.30487del (p.Ala10163fs) rs1560498923
NM_001267550.2(TTN):c.30503C>A (p.Thr10168Lys)
NM_001267550.2(TTN):c.30515T>A (p.Ile10172Asn) rs772028677
NM_001267550.2(TTN):c.30538+5G>A
NM_001267550.2(TTN):c.30538G>C (p.Asp10180His)
NM_001267550.2(TTN):c.30583G>T (p.Ala10195Ser) rs1060500585
NM_001267550.2(TTN):c.30598+1G>C rs2075001826
NM_001267550.2(TTN):c.30598+4A>T rs1560494355
NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)
NM_001267550.2(TTN):c.30599-1G>A rs1338491963
NM_001267550.2(TTN):c.30608C>G (p.Pro10203Arg) rs1344215902
NM_001267550.2(TTN):c.30683-1G>A
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser) rs747294929
NM_001267550.2(TTN):c.3071T>G (p.Val1024Gly) rs879097187
NM_001267550.2(TTN):c.30754+1G>T rs914288774
NM_001267550.2(TTN):c.30781A>G (p.Thr10261Ala) rs1060500409
NM_001267550.2(TTN):c.30803-14T>C rs2073693398
NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys) rs1553864504
NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter) rs1167073084
NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter) rs1425322355
NM_001267550.2(TTN):c.30978A>G (p.Val10326=) rs2073654294
NM_001267550.2(TTN):c.30989_30990del (p.Thr10330fs) rs2073652081
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
NM_001267550.2(TTN):c.3100+5G>A rs794729294
NM_001267550.2(TTN):c.3101-1G>A rs2092877322
NM_001267550.2(TTN):c.3101-2A>T rs1060500467
NM_001267550.2(TTN):c.31048G>A (p.Val10350Ile) rs1553864204
NM_001267550.2(TTN):c.3109G>T (p.Glu1037Ter)
NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter) rs794727040
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31207+5G>C
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser) rs397517537
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe) rs1352290576
NM_001267550.2(TTN):c.31348+14C>T rs2073303724
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp) rs374555701
NM_001267550.2(TTN):c.31426G>T (p.Val10476Leu)
NM_001267550.2(TTN):c.31479del (p.Phe10493fs)
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp) rs1553860465
NM_001267550.2(TTN):c.31513+1G>A rs1553860401
NM_001267550.2(TTN):c.31525C>A (p.Gln10509Lys) rs1553859889
NM_001267550.2(TTN):c.31548G>A (p.Glu10516=) rs777887659
NM_001267550.2(TTN):c.31563_31564inv (p.Ile10522Val)
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) rs763955552
NM_001267550.2(TTN):c.3165-9T>C rs886055306
NM_001267550.2(TTN):c.31656dup (p.Val10553fs)
NM_001267550.2(TTN):c.31669G>T (p.Ala10557Ser) rs1553857863
NM_001267550.2(TTN):c.31669_31670del (p.Ala10557fs)
NM_001267550.2(TTN):c.31679-1G>A
NM_001267550.2(TTN):c.31718del (p.Lys10573fs) rs2154280109
NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.31757C>G (p.Pro10586Arg) rs200459347
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu) rs200459347
NM_001267550.2(TTN):c.31762+4C>G rs368538884
NM_001267550.2(TTN):c.31762+5G>T rs145387989
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.31857A>G (p.Val10619=) rs886055286
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala) rs2071792935
NM_001267550.2(TTN):c.31927+1G>T rs1553852989
NM_001267550.2(TTN):c.31927+3A>C
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val) rs886055305
NM_001267550.2(TTN):c.32005C>A (p.Pro10669Thr) rs945424720
NM_001267550.2(TTN):c.32005C>T (p.Pro10669Ser) rs945424720
NM_001267550.2(TTN):c.32012-1G>T rs2154278075
NM_001267550.2(TTN):c.32018C>G (p.Ala10673Gly) rs773935335
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val) rs794729407
NM_001267550.2(TTN):c.32090_32095+21del
NM_001267550.2(TTN):c.32095+3A>G
NM_001267550.2(TTN):c.32095+5G>C rs869312090
NM_001267550.2(TTN):c.32096-1G>T
NM_001267550.2(TTN):c.32096-4_32117del rs1560398348
NM_001267550.2(TTN):c.32135_32136dup (p.Val10713fs)
NM_001267550.2(TTN):c.32161G>T (p.Ala10721Ser) rs753365187
NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile) rs763742779
NM_001267550.2(TTN):c.32189G>C (p.Arg10730Pro) rs771054923
NM_001267550.2(TTN):c.32311+1G>T rs1577433734
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met) rs549877654
NM_001267550.2(TTN):c.32312-1G>C rs2070649864
NM_001267550.2(TTN):c.32332del (p.Tyr10778fs) rs2070642658
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.32446dup (p.Ile10816fs) rs2154275355
NM_001267550.2(TTN):c.32470+1G>T
NM_001267550.2(TTN):c.32554+1G>A rs376018437
NM_001267550.2(TTN):c.32554+1G>T rs376018437
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.32639-2A>C rs2154274686
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val) rs200732179
NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32703_33665-50del
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln) rs73973137
NM_001267550.2(TTN):c.32761G>C (p.Val10921Leu) rs775126784
NM_001267550.2(TTN):c.32806G>A (p.Val10936Met)
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr) rs2069920810
NM_001267550.2(TTN):c.32879C>A (p.Pro10960His) rs879029800
NM_001267550.2(TTN):c.32883_32887+6del
NM_001267550.2(TTN):c.32887+1G>A rs546105899
NM_001267550.2(TTN):c.32887+1G>T rs546105899
NM_001267550.2(TTN):c.32887+2T>C rs2154273077
NM_001267550.2(TTN):c.32888-1del rs869312041
NM_001267550.2(TTN):c.32899A>G (p.Met10967Val) rs1392264858
NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del) rs774683936
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter) rs747806875
NM_001267550.2(TTN):c.33083_33086dup (p.Tyr11029Ter) rs2154271814
NM_001267550.2(TTN):c.33094G>A (p.Glu11032Lys) rs2154271806
NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter) rs1467686861
NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)
NM_001267550.2(TTN):c.33172G>A (p.Val11058Met)
NM_001267550.2(TTN):c.33173-1G>A rs794729256
NM_001267550.2(TTN):c.33215T>G (p.Ile11072Ser) rs1553836426
NM_001267550.2(TTN):c.33247+2T>A
NM_001267550.2(TTN):c.33283dup (p.Ile11095fs)
NM_001267550.2(TTN):c.33289_33290del (p.Ile11097fs)
NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser) rs727504210
NM_001267550.2(TTN):c.33325G>A (p.Glu11109Lys) rs1420096611
NM_001267550.2(TTN):c.33339A>G (p.Lys11113=) rs926306750
NM_001267550.2(TTN):c.33340+1dup rs794729310
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu) rs1328375389
NM_001267550.2(TTN):c.33344C>A (p.Pro11115His) rs1060500394
NM_001267550.2(TTN):c.33377A>C (p.Lys11126Thr) rs760742068
NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala) rs772242510
NM_001267550.2(TTN):c.33417_33418+1del rs2069047923
NM_001267550.2(TTN):c.33418+2T>A rs779749654
NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter) rs2154349662
NM_001267550.2(TTN):c.33473T>C (p.Val11158Ala) rs1441498569
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.33569T>C (p.Ile11190Thr)
NM_001267550.2(TTN):c.33580+1G>A rs2068947933
NM_001267550.2(TTN):c.33580+2T>C
NM_001267550.2(TTN):c.33581-2A>T
NM_001267550.2(TTN):c.33648del (p.Ala11217fs)
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu) rs757268986
NM_001267550.2(TTN):c.33694A>G (p.Lys11232Glu)
NM_001267550.2(TTN):c.33710_33725del (p.Ile11237fs) rs2154269652
NM_001267550.2(TTN):c.33742+3A>G
NM_001267550.2(TTN):c.33742+5A>C rs2068798031
NM_001267550.2(TTN):c.33742G>A (p.Val11248Ile) rs996345107
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser) rs886055283
NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys) rs1060500563
NM_001267550.2(TTN):c.337A>G (p.Met113Val) rs1060500430
NM_001267550.2(TTN):c.33817_33826+8del rs2154269293
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.33826+7G>A rs752099208
NM_001267550.2(TTN):c.33826G>A (p.Val11276Met)
NM_001267550.2(TTN):c.33827-1G>A rs2068604683
NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)
NM_001267550.2(TTN):c.33910+3A>G
NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile) rs886055282
NM_001267550.2(TTN):c.34022_34041del (p.Val11341fs)
NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter) rs2154268786
NM_001267550.2(TTN):c.3404_3407dup (p.Gly1137fs) rs2154348982
NM_001267550.2(TTN):c.34075C>G (p.Pro11359Ala) rs1060500464
NM_001267550.2(TTN):c.34080del (p.Glu11361fs)
NM_001267550.2(TTN):c.34093_34102del (p.Pro11365fs) rs1553823547
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3]) rs397517548
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[4] (p.11363VLPEEEE[6]) rs397517548
NM_001267550.2(TTN):c.34108G>A (p.Val11370Ile) rs1060500545
NM_001267550.2(TTN):c.34119G>A (p.Glu11373=) rs548399416
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln) rs878921943
NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter) rs878921943
NM_001267550.2(TTN):c.34225G>A (p.Glu11409Lys) rs770657053
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34247_34248delinsTC (p.Glu11416Val) rs1060500408
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp) rs780920687
NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)
NM_001267550.2(TTN):c.34378+1del rs1462972904
NM_001267550.2(TTN):c.34379-3A>T rs1060500497
NM_001267550.2(TTN):c.34400T>C (p.Val11467Ala) rs981211046
NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del) rs754236839
NM_001267550.2(TTN):c.34486A>G (p.Lys11496Glu) rs1034048129
NM_001267550.2(TTN):c.34486A>T (p.Lys11496Ter)
NM_001267550.2(TTN):c.34499dup (p.Pro11501fs) rs1560284392
NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter) rs2092730732
NM_001267550.2(TTN):c.34592A>G (p.Glu11531Gly) rs1553815943
NM_001267550.2(TTN):c.34612+2T>C rs1577253441
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34684G>A (p.Val11562Ile) rs1060500397
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser) rs556948427
NM_001267550.2(TTN):c.34709-1G>A rs727503634
NM_001267550.2(TTN):c.34742C>T (p.Ala11581Val) rs1060500436
NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln) rs764974634
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His) rs149883066
NM_001267550.2(TTN):c.34786+1G>T rs879010418
NM_001267550.2(TTN):c.34786+3del
NM_001267550.2(TTN):c.34786G>A (p.Val11596Met) rs794729415
NM_001267550.2(TTN):c.34801C>T (p.Pro11601Ser) rs1013759400
NM_001267550.2(TTN):c.34812del (p.Val11605fs)
NM_001267550.2(TTN):c.34816C>T (p.Pro11606Ser) rs1553810609
NM_001267550.2(TTN):c.34823C>T (p.Pro11608Leu) rs1553810583
NM_001267550.2(TTN):c.34823del (p.Pro11608fs)
NM_001267550.2(TTN):c.34855G>A (p.Val11619Met) rs1560262245
NM_001267550.2(TTN):c.34863del (p.Val11622fs)
NM_001267550.2(TTN):c.34931-10G>A rs1553809647
NM_001267550.2(TTN):c.34979T>C (p.Val11660Ala) rs1553809428
NM_001267550.2(TTN):c.35044del (p.Glu11682fs) rs2067110004
NM_001267550.2(TTN):c.35104T>G (p.Phe11702Val) rs1553809123
NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.35155G>T (p.Val11719Phe) rs754098075
NM_001267550.2(TTN):c.35156T>C (p.Val11719Ala) rs754536506
NM_001267550.2(TTN):c.35227+3A>G rs1577214679
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) rs1198364572
NM_001267550.2(TTN):c.35291A>G (p.Lys11764Arg) rs1060500446
NM_001267550.2(TTN):c.35308+1G>A
NM_001267550.2(TTN):c.35308+1G>T rs1423135750
NM_001267550.2(TTN):c.35309-1G>A
NM_001267550.2(TTN):c.35346del (p.Val11783fs) rs2154263836
NM_001267550.2(TTN):c.35386+170_35397del
NM_001267550.2(TTN):c.35429del (p.Arg11810fs) rs2154263436
NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter) rs2092638111
NM_001267550.2(TTN):c.35471-9T>C rs746940707
NM_001267550.2(TTN):c.35488_35492del (p.Lys11830fs) rs1370876304
NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)
NM_001267550.2(TTN):c.35545+1G>A rs2154263213
NM_001267550.2(TTN):c.35584G>C (p.Val11862Leu) rs1553800435
NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)
NM_001267550.2(TTN):c.35630-1G>A
NM_001267550.2(TTN):c.35662G>A (p.Asp11888Asn) rs1356416507
NM_001267550.2(TTN):c.35675_35676del (p.Val11892fs) rs1440560303
NM_001267550.2(TTN):c.35676_35679dup (p.Ile11894fs) rs2066170360
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.35693G>A (p.Arg11898Lys) rs1553799769
NM_001267550.2(TTN):c.35713+1G>A rs2066160245
NM_001267550.2(TTN):c.35713+1del
NM_001267550.2(TTN):c.35713+2T>A rs774814237
NM_001267550.2(TTN):c.35714-1G>C rs2154261850
NM_001267550.2(TTN):c.35739dup (p.Pro11914fs) rs968544783
NM_001267550.2(TTN):c.35797+3A>G
NM_001267550.2(TTN):c.35797G>A (p.Glu11933Lys) rs769110483
NM_001267550.2(TTN):c.35893G>T (p.Glu11965Ter)
NM_001267550.2(TTN):c.35897T>G (p.Ile11966Ser) rs1553796799
NM_001267550.2(TTN):c.35939T>C (p.Ile11980Thr) rs927982415
NM_001267550.2(TTN):c.35972T>C (p.Met11991Thr) rs1553796242
NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)
NM_001267550.2(TTN):c.36035G>A (p.Arg12012His) rs576436744
NM_001267550.2(TTN):c.36044-2A>C
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs) rs2154260181
NM_001267550.2(TTN):c.36088del (p.Ser12030fs)
NM_001267550.2(TTN):c.36097del (p.Arg12033fs) rs769704822
NM_001267550.2(TTN):c.36118+3A>G
NM_001267550.2(TTN):c.36119-1G>C rs1239720687
NM_001267550.2(TTN):c.36202+1G>A
NM_001267550.2(TTN):c.36202+1G>T
NM_001267550.2(TTN):c.36202+3A>G
NM_001267550.2(TTN):c.36203-1G>T
NM_001267550.2(TTN):c.36227T>C (p.Val12076Ala) rs772990799
NM_001267550.2(TTN):c.36265del (p.Val12089fs) rs2154259826
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.36280+1G>T
NM_001267550.2(TTN):c.36280+2T>G
NM_001267550.2(TTN):c.36280+3A>G rs2154259799
NM_001267550.2(TTN):c.36280G>A (p.Val12094Met)
NM_001267550.2(TTN):c.36280G>C (p.Val12094Leu)
NM_001267550.2(TTN):c.36280G>T (p.Val12094Leu)
NM_001267550.2(TTN):c.36281-7T>G
NM_001267550.2(TTN):c.36281dup (p.His12095fs) rs2154259448
NM_001267550.2(TTN):c.36342G>C (p.Lys12114Asn) rs766280406
NM_001267550.2(TTN):c.36364+2T>A
NM_001267550.2(TTN):c.36364+4dup rs949125365
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln) rs1043395012
NM_001267550.2(TTN):c.36395_36396del (p.Glu12132fs)
NM_001267550.2(TTN):c.36448+4_36532+3del rs2154258800
NM_001267550.2(TTN):c.36507dup (p.Glu12170fs)
NM_001267550.2(TTN):c.36532+3A>G
NM_001267550.2(TTN):c.36533-1G>A
NM_001267550.2(TTN):c.365del (p.Arg122fs) rs2154359059
NM_001267550.2(TTN):c.36685A>G (p.Ser12229Gly) rs1060500531
NM_001267550.2(TTN):c.36696del (p.Glu12233fs) rs1060500458
NM_001267550.2(TTN):c.36701-6T>G rs1060500422
NM_001267550.2(TTN):c.36701-9T>G rs1060500427
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043
NM_001267550.2(TTN):c.36790+5G>T rs752204534
NM_001267550.2(TTN):c.36821_36822insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCNNAAAAAAAAAAAAAAAAAAAA (p.Glu12274_Lys12275insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val) rs576019235
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala) rs146313925
NM_001267550.2(TTN):c.3701T>C (p.Val1234Ala) rs1060500401
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=) rs200163049
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs) rs2064831878
NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)
NM_001267550.2(TTN):c.37222G>A (p.Val12408Ile) rs1553786445
NM_001267550.2(TTN):c.3729+1G>A rs781562337
NM_001267550.2(TTN):c.3729+3G>A
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn) rs1554012975
NM_001267550.2(TTN):c.37373C>T (p.Pro12458Leu) rs1553782191
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu) rs727503632
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala) rs1060500552
NM_001267550.2(TTN):c.37477G>A (p.Glu12493Lys) rs1426948805
NM_001267550.2(TTN):c.37489G>A (p.Glu12497Lys) rs1553781387
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.37576A>T (p.Lys12526Ter) rs1560149950
NM_001267550.2(TTN):c.37616_37627+12del rs1560149416
NM_001267550.2(TTN):c.37651G>A (p.Val12551Ile) rs1437747405
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr) rs1060500468
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met) rs1577039412
NM_001267550.2(TTN):c.37903G>C (p.Glu12635Gln) rs749935074
NM_001267550.2(TTN):c.37949T>C (p.Val12650Ala) rs1553779318
NM_001267550.2(TTN):c.37996C>A (p.Pro12666Thr) rs201684070
NM_001267550.2(TTN):c.38000C>A (p.Ser12667Ter) rs572641259
NM_001267550.2(TTN):c.38101C>T (p.Pro12701Ser) rs1284117197
NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu) rs202075225
NM_001267550.2(TTN):c.38147T>A (p.Val12716Asp) rs1553777417
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter) rs2154347744
NM_001267550.2(TTN):c.38206+6_39295+5del
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys) rs1553777033
NM_001267550.2(TTN):c.38249A>C (p.Lys12750Thr) rs1337231554
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs) rs1060500558
NM_001267550.2(TTN):c.38326G>T (p.Glu12776Ter) rs2063658613
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38465-8C>A rs937031915
NM_001267550.2(TTN):c.38519A>G (p.Lys12840Arg) rs1250144035
NM_001267550.2(TTN):c.38546-2del rs1486772794
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val) rs1554012705
NM_001267550.2(TTN):c.38626+4dup rs1260372587
NM_001267550.2(TTN):c.3864del (p.Val1289fs) rs2154347714
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.38708-15_38723del
NM_001267550.2(TTN):c.38708-2A>C
NM_001267550.2(TTN):c.38723AAG[1] (p.Glu12909del) rs1060500390
NM_001267550.2(TTN):c.38783C>G (p.Pro12928Arg) rs752337495
NM_001267550.2(TTN):c.38791+1G>C
NM_001267550.2(TTN):c.38792-1_38792insA
NM_001267550.2(TTN):c.38875G>T (p.Val12959Leu)
NM_001267550.2(TTN):c.38876-2A>T
NM_001267550.2(TTN):c.38879_38880inv (p.Pro12960Leu)
NM_001267550.2(TTN):c.38915T>C (p.Met12972Thr) rs1060500540
NM_001267550.2(TTN):c.38919del (p.Leu12974fs) rs1359574718
NM_001267550.2(TTN):c.39043+4T>C rs2063256186
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln) rs763845436
NM_001267550.2(TTN):c.39057G>C (p.Pro13019=) rs371945519
NM_001267550.2(TTN):c.39058_39141del84 (p.Ala13030_Pro13057del)
NM_001267550.2(TTN):c.39059AAG[1] (p.Glu13021del) rs1298186498
NM_001267550.2(TTN):c.39127+3A>T rs2154250699
NM_001267550.2(TTN):c.39163_39166del (p.Lys13055fs) rs2063155917
NM_001267550.2(TTN):c.39201_39203dup (p.Pro13068dup) rs748388695
NM_001267550.2(TTN):c.39204del (p.Thr13069fs) rs1560106851
NM_001267550.2(TTN):c.39210del (p.Val13071fs) rs2154250499
NM_001267550.2(TTN):c.39211G>T (p.Val13071Phe) rs1334646153
NM_001267550.2(TTN):c.3926C>T (p.Thr1309Ile)
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del) rs727503631
NM_001267550.2(TTN):c.39289C>A (p.Pro13097Thr) rs370157162
NM_001267550.2(TTN):c.39295+1G>C
NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)
NM_001267550.2(TTN):c.39355C>T (p.Pro13119Ser) rs2063054787
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del) rs1292233616
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.39380-1G>C rs2063018968
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu) rs1060500460
NM_001267550.2(TTN):c.39463+1G>C rs1553770003
NM_001267550.2(TTN):c.39463+2T>C rs1576956162
NM_001267550.2(TTN):c.39464-15T>C rs2062964886
NM_001267550.2(TTN):c.39511G>A (p.Val13171Met) rs780550944
NM_001267550.2(TTN):c.39511del (p.Val13171fs)
NM_001267550.2(TTN):c.39525G>C (p.Lys13175Asn) rs1060500515
NM_001267550.2(TTN):c.39539del (p.Pro13180fs) rs2062944024
NM_001267550.2(TTN):c.39546del (p.Val13183fs)
NM_001267550.2(TTN):c.39547+3A>G rs878854370
NM_001267550.2(TTN):c.39547+4T>C rs754899622
NM_001267550.2(TTN):c.39547G>C (p.Val13183Leu) rs2154249791
NM_001267550.2(TTN):c.39563AAG[1] (p.Glu13189del) rs1553769206
NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter) rs2154249634
NM_001267550.2(TTN):c.39625+1G>C
NM_001267550.2(TTN):c.39625+2T>C rs774766702
NM_001267550.2(TTN):c.3963+1G>T rs1561325112
NM_001267550.2(TTN):c.3963+3A>G rs2092547968
NM_001267550.2(TTN):c.39709+4C>T rs1553768226
NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)
NM_001267550.2(TTN):c.39743A>T (p.Glu13248Val) rs1224909860
NM_001267550.2(TTN):c.39817+1G>C rs959064823
NM_001267550.2(TTN):c.39818-1G>C rs2062662018
NM_001267550.2(TTN):c.39818-4_39821delinsA rs2062659844
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser) rs727503630
NM_001267550.2(TTN):c.39834del (p.Lys13279fs) rs886044415
NM_001267550.2(TTN):c.39862G>C (p.Val13288Leu) rs878854303
NM_001267550.2(TTN):c.39895+1G>C rs749931280
NM_001267550.2(TTN):c.39895+2T>C
NM_001267550.2(TTN):c.39943G>C (p.Val13315Leu) rs1553766447
NM_001267550.2(TTN):c.39974-1G>A
NM_001267550.2(TTN):c.39995T>G (p.Leu13332Arg) rs1424568997
NM_001267550.2(TTN):c.40057+1G>A
NM_001267550.2(TTN):c.40057+1G>C
NM_001267550.2(TTN):c.40057G>A (p.Val13353Met) rs1422486813
NM_001267550.2(TTN):c.40141+6C>A rs750448649
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile) rs1561323191
NM_001267550.2(TTN):c.40220_40222+1del rs2154245535
NM_001267550.2(TTN):c.40222+1G>A
NM_001267550.2(TTN):c.40223-1G>A
NM_001267550.2(TTN):c.40225C>T (p.Arg13409Cys) rs769146381
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40316T>C (p.Val13439Ala) rs1553761103
NM_001267550.2(TTN):c.40342del (p.Arg13448fs)
NM_001267550.2(TTN):c.40349del (p.Pro13450fs)
NM_001267550.2(TTN):c.40404del (p.Ala13470fs)
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40408G>A (p.Ala13470Thr) rs2061858723
NM_001267550.2(TTN):c.40409-8C>A rs1351493193
NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter) rs1560026402
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.40633+3A>G
NM_001267550.2(TTN):c.40633+5G>A rs2061194221
NM_001267550.2(TTN):c.40633+5G>T
NM_001267550.2(TTN):c.40635del (p.Pro13546fs) rs2154238079
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys) rs781066709
NM_001267550.2(TTN):c.40686del (p.Thr13563fs)
NM_001267550.2(TTN):c.40691_40713dup (p.Pro13572fs)
NM_001267550.2(TTN):c.40699_40703del (p.Arg13567fs) rs2154238027
NM_001267550.2(TTN):c.40699del (p.Arg13567fs)
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val) rs1190002260
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.40750dup (p.Leu13584fs) rs2061028828
NM_001267550.2(TTN):c.40751_40769del (p.Leu13584fs)
NM_001267550.2(TTN):c.40760_40787-52del rs1553752889
NM_001267550.2(TTN):c.40787-2A>G
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.40876G>C (p.Glu13626Gln)
NM_001267550.2(TTN):c.40879G>A (p.Ala13627Thr) rs1060500548
NM_001267550.2(TTN):c.40921_40922dup (p.Lys13642fs)
NM_001267550.2(TTN):c.40927+1G>A rs1553749862
NM_001267550.2(TTN):c.40927+3G>A rs2154233434
NM_001267550.2(TTN):c.40928-2A>C rs2154231706
NM_001267550.2(TTN):c.40940del (p.Lys13647fs) rs2154231664
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys) rs727504198
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His) rs1377114122
NM_001267550.2(TTN):c.41043del (p.Pro13682fs)
NM_001267550.2(TTN):c.41149A>C (p.Thr13717Pro) rs1553747949
NM_001267550.2(TTN):c.41152A>T (p.Thr13718Ser) rs562561380
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs) rs1436937190
NM_001267550.2(TTN):c.41254G>A (p.Asp13752Asn) rs1349773180
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.41275_41276del (p.Val13759fs) rs1576745536
NM_001267550.2(TTN):c.41326dup (p.Glu13776fs) rs2154231011
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.41329+2T>G rs1553747489
NM_001267550.2(TTN):c.41329+2dup
NM_001267550.2(TTN):c.41330-1G>T rs2154230691
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
NM_001267550.2(TTN):c.41391_41393del (p.Leu13798del)
NM_001267550.2(TTN):c.41415_41418del (p.Asn13805fs) rs1576741993
NM_001267550.2(TTN):c.41432del (p.Val13811fs) rs2060408539
NM_001267550.2(TTN):c.41434dup (p.Trp13812fs) rs2060408311
NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter) rs2060408042
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg) rs2060403983
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp) rs886055278
NM_001267550.2(TTN):c.41542G>A (p.Gly13848Arg) rs1553746427
NM_001267550.2(TTN):c.41548T>C (p.Tyr13850His) rs774281208
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter) rs2154230108
NM_001267550.2(TTN):c.41582A>C (p.Glu13861Ala) rs1553746267
NM_001267550.2(TTN):c.41608+4A>C rs2154230052
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.41609-2A>G rs730880244
NM_001267550.2(TTN):c.41768T>A (p.Ile13923Lys) rs1553745511
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.41794del (p.Leu13932fs) rs2060330825
NM_001267550.2(TTN):c.41817del (p.Glu13940fs) rs2154229464
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu) rs1554011657
NM_001267550.2(TTN):c.41962_41963del (p.Ile13988fs)
NM_001267550.2(TTN):c.42003A>T (p.Gly14001=) rs1553744821
NM_001267550.2(TTN):c.42024+1G>C rs2154228980
NM_001267550.2(TTN):c.42024del (p.Thr14009fs) rs2060282891
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg) rs367751077
NM_001267550.2(TTN):c.42054dup (p.Arg14019fs) rs1559977271
NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter) rs2154228367
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe) rs1433887768
NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter) rs1311474144
NM_001267550.2(TTN):c.42151+3A>G rs770439451
NM_001267550.2(TTN):c.42152-7_42153del rs1559975119
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs) rs2154346896
NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
NM_001267550.2(TTN):c.42202dup (p.Arg14068fs) rs1559974529
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.42235del (p.Arg14079fs) rs2154227519
NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)
NM_001267550.2(TTN):c.42319_42322dup (p.Ile14108fs) rs2060173229
NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter) rs2060169705
NM_001267550.2(TTN):c.42355dup (p.Glu14119fs)
NM_001267550.2(TTN):c.42382G>A (p.Gly14128Ser) rs1553743503
NM_001267550.2(TTN):c.42430T>A (p.Phe14144Ile) rs1359996660
NM_001267550.2(TTN):c.42445_42446insTTT (p.Glu14149delinsValTer) rs2060125843
NM_001267550.2(TTN):c.42447A>G (p.Glu14149=) rs879241728
NM_001267550.2(TTN):c.42474del (p.Ala14159fs) rs2060122241
NM_001267550.2(TTN):c.42484del (p.Val14162fs)
NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys) rs575813993
NM_001267550.2(TTN):c.42540del (p.Lys14180fs)
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42636del (p.Ala14213fs) rs869312106
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs) rs2060106818
NM_001267550.2(TTN):c.42646A>T (p.Lys14216Ter)
NM_001267550.2(TTN):c.42682G>C (p.Glu14228Gln)
NM_001267550.2(TTN):c.42695del (p.Tyr14232fs)
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser) rs772479207
NM_001267550.2(TTN):c.42714T>G (p.His14238Gln) rs1438979717
NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter) rs886042681
NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)
NM_001267550.2(TTN):c.42822del (p.Lys14274fs) rs2060064534
NM_001267550.2(TTN):c.42869A>C (p.Lys14290Thr) rs1060500499
NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)
NM_001267550.2(TTN):c.42946+1G>T rs1553741531
NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter) rs376799532
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro) rs727505144
NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)
NM_001267550.2(TTN):c.42993del (p.Phe14331fs)
NM_001267550.2(TTN):c.43018del (p.Ile14340fs)
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
NM_001267550.2(TTN):c.43086+3A>G rs2060017452
NM_001267550.2(TTN):c.43086+5G>A
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer) rs1203006457
NM_001267550.2(TTN):c.43133A>G (p.His14378Arg) rs878854307
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter) rs754568652
NM_001267550.2(TTN):c.43195_43198del (p.Ala14399fs)
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr) rs1296402152
NM_001267550.2(TTN):c.43213+1G>A
NM_001267550.2(TTN):c.43213+1G>T
NM_001267550.2(TTN):c.43214-1G>C
NM_001267550.2(TTN):c.43214-2A>G
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.43253_43254del (p.Lys14418fs) rs2059956960
NM_001267550.2(TTN):c.43288del (p.Glu14430fs)
NM_001267550.2(TTN):c.432_442del (p.Ile144_Gln145insTer)
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
NM_001267550.2(TTN):c.43316del (p.Arg14439fs)
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)
NM_001267550.2(TTN):c.43351G>A (p.Asp14451Asn) rs768931150
NM_001267550.2(TTN):c.43372del (p.Asp14458fs) rs794729314
NM_001267550.2(TTN):c.43418del (p.Asp14473fs)
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter) rs1559955466
NM_001267550.2(TTN):c.43446del (p.Asp14483fs) rs2154221841
NM_001267550.2(TTN):c.43474del (p.Ile14492fs) rs2059934937
NM_001267550.2(TTN):c.43480+4_43480+5del
NM_001267550.2(TTN):c.43483del (p.Ile14495fs) rs2059913524
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
NM_001267550.2(TTN):c.43563_43575del (p.His14522fs)
NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter) rs2154220622
NM_001267550.2(TTN):c.43652dup (p.His14551fs)
NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)
NM_001267550.2(TTN):c.43666A>G (p.Lys14556Glu) rs1553738199
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
NM_001267550.2(TTN):c.43710dup (p.Met14571fs) rs2154220574
NM_001267550.2(TTN):c.43747+5G>A rs878854308
NM_001267550.2(TTN):c.43747+5G>C rs878854308
NM_001267550.2(TTN):c.43748-1G>A rs794729259
NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter) rs2154220286
NM_001267550.2(TTN):c.43777dup (p.Gln14593fs)
NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn) rs769967388
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs) rs2092387027
NM_001267550.2(TTN):c.43861del (p.Asp14621fs)
NM_001267550.2(TTN):c.43911C>T (p.Gly14637=)
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg) rs878896650
NM_001267550.2(TTN):c.43939G>C (p.Ala14647Pro) rs2059746777
NM_001267550.2(TTN):c.440C>G (p.Ser147Cys) rs2094006092
NM_001267550.2(TTN):c.4413del (p.Gln1472fs) rs2092384255
NM_001267550.2(TTN):c.44154+1G>C
NM_001267550.2(TTN):c.44154+4A>T rs1576670482
NM_001267550.2(TTN):c.44154+5G>A rs2154220094
NM_001267550.2(TTN):c.44184A>G (p.Ile14728Met) rs572315033
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.44204A>G (p.Asn14735Ser) rs763464756
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44247del (p.Asn14750fs) rs2059639706
NM_001267550.2(TTN):c.44249del (p.Asn14750fs) rs2154219900
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44281+1del
NM_001267550.2(TTN):c.44281+2dup rs773570018
NM_001267550.2(TTN):c.44281+5G>A rs2059634223
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44285G>C (p.Arg14762Pro) rs727505019
NM_001267550.2(TTN):c.44289_44290del (p.Ile14764fs) rs2059501959
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.44335G>C (p.Glu14779Gln) rs1262894259
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=) rs772552324
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.44375T>C (p.Ile14792Thr) rs747654057
NM_001267550.2(TTN):c.44378del (p.Pro14793fs) rs1064796121
NM_001267550.2(TTN):c.44400del (p.Lys14801fs) rs727503628
NM_001267550.2(TTN):c.44404_44424+8del rs2154219379
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala) rs753926213
NM_001267550.2(TTN):c.44415dup (p.Ser14806fs) rs2154219387
NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)
NM_001267550.2(TTN):c.44467A>G (p.Arg14823Gly) rs886055277
NM_001267550.2(TTN):c.44472T>G (p.Asp14824Glu) rs377441854
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44494del (p.Glu14832fs) rs1553725355
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) rs886055276
NM_001267550.2(TTN):c.44537del (p.Leu14846fs) rs2058861849
NM_001267550.2(TTN):c.44540_44541del (p.Phe14847fs)
NM_001267550.2(TTN):c.44580G>C (p.Glu14860Asp) rs1060500475
NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)
NM_001267550.2(TTN):c.44603_44633del (p.Ala14868fs)
NM_001267550.2(TTN):c.44683del (p.Ser14895fs) rs886044263
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln) rs762830792
NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala) rs878854310
NM_001267550.2(TTN):c.4480+1G>A rs766581255
NM_001267550.2(TTN):c.4480+1G>T rs766581255
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
NM_001267550.2(TTN):c.44815+14T>C rs2058737403
NM_001267550.2(TTN):c.44815+1G>A rs1274007753
NM_001267550.2(TTN):c.44815+2_44815+3insTT rs786205392
NM_001267550.2(TTN):c.44850C>A (p.Asp14950Glu) rs371376631
NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter) rs2154213117
NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter) rs2058478213
NM_001267550.2(TTN):c.4487_4488insT (p.Gln1496fs) rs1554009454
NM_001267550.2(TTN):c.44889_44890dup (p.Glu14964fs) rs2154213095
NM_001267550.2(TTN):c.44906del (p.Asn14969fs)
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.44913+1G>T rs1553721106
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn) rs757693661
NM_001267550.2(TTN):c.44969del (p.Ile14990fs) rs2154212465
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro) rs1553719829
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr) rs886055275
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro) rs1060500472
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter) rs2154212373
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=) rs185660585
NM_001267550.2(TTN):c.45082+4A>T
NM_001267550.2(TTN):c.45082+5G>A rs2058337645
NM_001267550.2(TTN):c.45083-1G>A
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs) rs2154212181
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.45221del (p.Gly15074fs) rs2058288753
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45349+1G>A rs2154211977
NM_001267550.2(TTN):c.45349+1G>T
NM_001267550.2(TTN):c.45349+3A>G rs1553718424
NM_001267550.2(TTN):c.45350-1G>C rs2058237051
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter) rs2092360420
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly) rs1060500496
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs) rs2154211664
NM_001267550.2(TTN):c.45583del (p.Ala15195fs) rs2154211651
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp) rs794729438
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs) rs2058205143
NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)
NM_001267550.2(TTN):c.45674_45675del (p.Val15225fs) rs1232518763
NM_001267550.2(TTN):c.45719G>A (p.Trp15240Ter) rs2058162241
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
NM_001267550.2(TTN):c.45725G>T (p.Arg15242Ile) rs140795503
NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter) rs2058161147
NM_001267550.2(TTN):c.45737C>T (p.Ala15246Val) rs370233278
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly) rs2058157979
NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter) rs2154211378
NM_001267550.2(TTN):c.45787_45793del (p.Thr15263fs)
NM_001267550.2(TTN):c.45809_45810del (p.His15270fs) rs2154211339
NM_001267550.2(TTN):c.45814del (p.Asp15272fs) rs1576550450
NM_001267550.2(TTN):c.45837_45838del (p.Ser15280fs) rs2058146182
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs) rs1266824761
NM_001267550.2(TTN):c.45895+1G>T rs727504589
NM_001267550.2(TTN):c.45895+5G>C rs1206842325
NM_001267550.2(TTN):c.45940A>T (p.Met15314Leu) rs1391292606
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile) rs2058108323
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys) rs886038861
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del) rs727505075
NM_001267550.2(TTN):c.46164del (p.Ala15389fs)
NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile) rs775807236
NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)
NM_001267550.2(TTN):c.46201_46204del (p.Thr15401fs)
NM_001267550.2(TTN):c.46205T>C (p.Val15402Ala) rs1559868004
NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly) rs878854311
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val) rs1060500580
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter) rs879139686
NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter) rs1576543528
NM_001267550.2(TTN):c.46304+1G>T
NM_001267550.2(TTN):c.46304+3A>T rs866285912
NM_001267550.2(TTN):c.46304+5G>A rs398124452
NM_001267550.2(TTN):c.46305-1G>C rs1553714845
NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter) rs2154210717
NM_001267550.2(TTN):c.46335_46336del (p.His15445fs)
NM_001267550.2(TTN):c.46344_46348dup (p.Lys15450delinsIleTer)
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs) rs2154210696
NM_001267550.2(TTN):c.46385_46406dup (p.Ala15471fs)
NM_001267550.2(TTN):c.46397dup (p.Asp15466fs)
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs) rs1060500443
NM_001267550.2(TTN):c.46407_46410dup (p.Ala15471fs) rs2058029089
NM_001267550.2(TTN):c.46429+1G>T rs2154210677
NM_001267550.2(TTN):c.46429+2T>C
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.46430-2A>G
NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter) rs2058001839
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr) rs537428006
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys) rs762008835
NM_001267550.2(TTN):c.46550T>C (p.Met15517Thr) rs1349699547
NM_001267550.2(TTN):c.46565del (p.Gly15522fs) rs2057989087
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu) rs1553713980
NM_001267550.2(TTN):c.46623del (p.Lys15542fs)
NM_001267550.2(TTN):c.46639_46643dup (p.Tyr15549fs)
NM_001267550.2(TTN):c.46653_46656dup (p.Ala15553fs) rs2154210554
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
NM_001267550.2(TTN):c.46696+1G>T rs1064796987
NM_001267550.2(TTN):c.46696+4A>G rs1553713646
NM_001267550.2(TTN):c.46697-1G>T rs2154209955
NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)
NM_001267550.2(TTN):c.46724_46725delinsC (p.Gln15575fs) rs1559855146
NM_001267550.2(TTN):c.46732G>C (p.Val15578Leu) rs1553712552
NM_001267550.2(TTN):c.46736_46745del (p.Val15579fs)
NM_001267550.2(TTN):c.46753_46754del (p.Leu15585fs) rs2154209917
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=) rs397517586
NM_001267550.2(TTN):c.46788del (p.Ala15597fs) rs2154209882
NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter) rs1576521473
NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter) rs749463044
NM_001267550.2(TTN):c.46810_46814del (p.Lys15603_Glu15604insTer)
NM_001267550.2(TTN):c.46823del (p.Leu15608fs) rs2154209855
NM_001267550.2(TTN):c.46831_46837dup (p.Ile15613fs)
NM_001267550.2(TTN):c.46895_46898del (p.Lys15632fs) rs1553712148
NM_001267550.2(TTN):c.468C>T (p.Gly156=)
NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)
NM_001267550.2(TTN):c.46943G>A (p.Gly15648Glu) rs1060500413
NM_001267550.2(TTN):c.46966+1G>A
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn) rs727504572
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg) rs1553711574
NM_001267550.2(TTN):c.47177T>C (p.Val15726Ala) rs1553711371
NM_001267550.2(TTN):c.47289G>T (p.Leu15763Phe) rs1553710788
NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del) rs398124453
NM_001267550.2(TTN):c.47515A>G (p.Ile15839Val) rs1553710021
NM_001267550.2(TTN):c.47537C>T (p.Ala15846Val) rs1183139911
NM_001267550.2(TTN):c.47626G>A (p.Val15876Ile) rs766025438
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=) rs1060500551
NM_001267550.2(TTN):c.47761-7A>G rs1365533381
NM_001267550.2(TTN):c.47875+4_47875+7del rs753206674
NM_001267550.2(TTN):c.47875+9A>G rs1553708222
NM_001267550.2(TTN):c.47900C>A (p.Ala15967Glu) rs1553707943
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=) rs780824428
NM_001267550.2(TTN):c.48052G>A (p.Ala16018Thr) rs1451009964
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln) rs886055271
NM_001267550.2(TTN):c.4814+3A>C rs567197047
NM_001267550.2(TTN):c.4814+6T>C
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr) rs1576492463
NM_001267550.2(TTN):c.48311A>C (p.Lys16104Thr) rs1060500396
NM_001267550.2(TTN):c.48312+2dup rs776497397
NM_001267550.2(TTN):c.48312+5G>A
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del) rs561618839
NM_001267550.2(TTN):c.48399C>A (p.Asn16133Lys) rs1060500470
NM_001267550.2(TTN):c.48451A>C (p.Thr16151Pro) rs186497293
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser) rs876658063
NM_001267550.2(TTN):c.48557G>A (p.Arg16186His) rs769784536
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.48590G>A (p.Arg16197His) rs369826752
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48638+5del rs2057135287
NM_001267550.2(TTN):c.48639-3C>A rs923663993
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr) rs1553704101
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) rs886055270
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr) rs72677242
NM_001267550.2(TTN):c.48760+8T>C rs2057012531
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter) rs767755367
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser) rs894986526
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile) rs878948684
NM_001267550.2(TTN):c.489dup (p.Ala164fs) rs1574990483
NM_001267550.2(TTN):c.49048+4A>G rs766931932
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr) rs794729446
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu) rs750310775
NM_001267550.2(TTN):c.49183A>G (p.Ser16395Gly) rs2056873203
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile) rs2056867382
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg) rs1329659749
NM_001267550.2(TTN):c.49345+3A>G rs2056845605
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn) rs541307234
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp) rs2056796893
NM_001267550.2(TTN):c.49488A>G (p.Lys16496=) rs1553701108
NM_001267550.2(TTN):c.49648+5T>C rs759948503
NM_001267550.2(TTN):c.4991G>A (p.Arg1664Gln)
NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys) rs794727352
NM_001267550.2(TTN):c.4995del (p.Thr1666fs) rs2154346335
NM_001267550.2(TTN):c.49964C>A (p.Pro16655Gln)
NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=) rs540957547
NM_001267550.2(TTN):c.5001T>G (p.Tyr1667Ter)
NM_001267550.2(TTN):c.5003G>A (p.Arg1668Lys) rs1554008153
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val) rs763483590
NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)
NM_001267550.2(TTN):c.50355-3T>C rs1172932037
NM_001267550.2(TTN):c.5039T>A (p.Leu1680His) rs886055304
NM_001267550.2(TTN):c.50441C>G (p.Thr16814Ser) rs1559783698
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.5073dup (p.Gly1692fs)
NM_001267550.2(TTN):c.50749G>A (p.Gly16917Ser) rs1553696081
NM_001267550.2(TTN):c.50811C>T (p.Ser16937=) rs780845171
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51136+3A>G
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51338C>A (p.Pro17113Gln) rs763635220
NM_001267550.2(TTN):c.51366A>T (p.Lys17122Asn) rs1553693116
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.51436+5G>C rs2055951790
NM_001267550.2(TTN):c.51454G>A (p.Val17152Ile) rs1553692607
NM_001267550.2(TTN):c.51633A>T (p.Gly17211=) rs879091553
NM_001267550.2(TTN):c.51634C>T (p.Leu17212Phe) rs1473716049
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=) rs755746120
NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter) rs2154346258
NM_001267550.2(TTN):c.51739+3A>G
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile) rs2092262370
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile) rs1333508634
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn) rs72632861
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del) rs780745206
NM_001267550.2(TTN):c.51938C>A (p.Pro17313Gln) rs372927085
NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg) rs368529230
NM_001267550.2(TTN):c.51986A>T (p.Lys17329Met) rs1060500490
NM_001267550.2(TTN):c.5204del (p.Val1735fs)
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu) rs886055269
NM_001267550.2(TTN):c.52085G>A (p.Cys17362Tyr) rs1553690569
NM_001267550.2(TTN):c.52102+5G>C rs886042399
NM_001267550.2(TTN):c.52112G>A (p.Gly17371Glu) rs794729455
NM_001267550.2(TTN):c.52385T>A (p.Leu17462His) rs1216814159
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=) rs886055268
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn) rs1060500466
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp) rs1553688489
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del) rs755947249
NM_001267550.2(TTN):c.5260A>G (p.Ile1754Val) rs780379544
NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys)
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=) rs748001472
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu) rs2055350149
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg) rs1559743128
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu) rs780672348
NM_001267550.2(TTN):c.5309G>A (p.Arg1770Lys) rs1554007509
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53236G>A (p.Ala17746Thr) rs886055266
NM_001267550.2(TTN):c.53287+4A>C rs2055151641
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His) rs2055154464
NM_001267550.2(TTN):c.53322T>G (p.Val17774=) rs886055265
NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro) rs777712545
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr) rs1060500485
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser) rs1576357395
NM_001267550.2(TTN):c.53609C>T (p.Thr17870Ile) rs1553683359
NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val) rs771801125
NM_001267550.2(TTN):c.53641C>T (p.Leu17881Phe) rs771801125
NM_001267550.2(TTN):c.53659C>T (p.Arg17887Cys) rs771307468
NM_001267550.2(TTN):c.53663G>C (p.Ser17888Thr) rs778009539
NM_001267550.2(TTN):c.53881+4C>A rs187632918
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.53881+6G>A rs1553682704
NM_001267550.2(TTN):c.538A>C (p.Asn180His) rs864622712
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro) rs200100660
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs) rs1064796474
NM_001267550.2(TTN):c.53965G>A (p.Asp17989Asn) rs1060500481
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.54148C>G (p.Arg18050Gly) rs55734111
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val) rs2054396232
NM_001267550.2(TTN):c.54290T>C (p.Ile18097Thr) rs1553681465
NM_001267550.2(TTN):c.54320C>G (p.Ala18107Gly) rs794729457
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn) rs886055264
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu) rs886055263
NM_001267550.2(TTN):c.5446del (p.Ile1816fs)
NM_001267550.2(TTN):c.54496C>T (p.Leu18166Phe) rs878953621
NM_001267550.2(TTN):c.54600C>G (p.Gly18200=)
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=) rs397517620
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val) rs886038866
NM_001267550.2(TTN):c.5468C>T (p.Ala1823Val) rs1554007106
NM_001267550.2(TTN):c.54727C>G (p.Gln18243Glu) rs372447571
NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr) rs141213991
NM_001267550.2(TTN):c.54811+8T>C rs747409403
NM_001267550.2(TTN):c.54935AAG[2] (p.Glu18314del) rs1553675991
NM_001267550.2(TTN):c.54976G>C (p.Asp18326His) rs1553675887
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.5519del (p.Lys1840fs)
NM_001267550.2(TTN):c.55269+3A>G
NM_001267550.2(TTN):c.55271A>G (p.Asp18424Gly) rs1553674352
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg) rs2053507157
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser) rs899078606
NM_001267550.2(TTN):c.5539C>T (p.Pro1847Ser) rs138778559
NM_001267550.2(TTN):c.55432+10A>G rs751062759
NM_001267550.2(TTN):c.55432+5G>A
NM_001267550.2(TTN):c.55433-4A>G rs1451088765
NM_001267550.2(TTN):c.55485T>G (p.Ser18495Arg) rs1213190093
NM_001267550.2(TTN):c.55522G>A (p.Gly18508Arg) rs1060500511
NM_001267550.2(TTN):c.55610C>T (p.Thr18537Ile) rs1027035888
NM_001267550.2(TTN):c.55615G>A (p.Val18539Ile) rs1060500557
NM_001267550.2(TTN):c.55682T>C (p.Ile18561Thr)
NM_001267550.2(TTN):c.55732+3A>G rs2154192792
NM_001267550.2(TTN):c.55732+4A>G rs2053372615
NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser) rs528329600
NM_001267550.2(TTN):c.5576G>A (p.Arg1859Lys) rs777923620
NM_001267550.2(TTN):c.55851G>C (p.Glu18617Asp) rs878854316
NM_001267550.2(TTN):c.55909C>A (p.Arg18637Ser) rs374151130
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys) rs374151130
NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)
NM_001267550.2(TTN):c.56067T>A (p.Asp18689Glu) rs1553667022
NM_001267550.2(TTN):c.56191C>A (p.Pro18731Thr) rs751457168
NM_001267550.2(TTN):c.56191C>T (p.Pro18731Ser) rs751457168
NM_001267550.2(TTN):c.56207C>A (p.Thr18736Asn) rs1455791430
NM_001267550.2(TTN):c.5622del (p.Trp1874fs)
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=) rs886055262
NM_001267550.2(TTN):c.5630A>T (p.Asn1877Ile) rs1554006798
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val) rs753746652
NM_001267550.2(TTN):c.56453C>A (p.Thr18818Lys) rs945270235
NM_001267550.2(TTN):c.56549T>A (p.Leu18850Gln) rs878854317
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=) rs886055261
NM_001267550.2(TTN):c.56647+6T>C
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) rs375403059
NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys) rs547305291
NM_001267550.2(TTN):c.5674del (p.Asp1892fs) rs2154346038
NM_001267550.2(TTN):c.56855G>T (p.Gly18952Val) rs762735652
NM_001267550.2(TTN):c.56941G>A (p.Ala18981Thr) rs760651904
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del) rs749887998
NM_001267550.2(TTN):c.57111+3A>G rs374844230
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His) rs1477069650
NM_001267550.2(TTN):c.57262G>A (p.Val19088Ile) rs727505347
NM_001267550.2(TTN):c.57263-6T>G rs562237741
NM_001267550.2(TTN):c.57305T>C (p.Ile19102Thr) rs878854319
NM_001267550.2(TTN):c.57323G>A (p.Gly19108Glu) rs774910035
NM_001267550.2(TTN):c.57325G>A (p.Val19109Met) rs945083650
NM_001267550.2(TTN):c.57387T>G (p.Asn19129Lys) rs375305621
NM_001267550.2(TTN):c.57491T>C (p.Leu19164Pro) rs1553659364
NM_001267550.2(TTN):c.57617T>A (p.Phe19206Tyr) rs1060500418
NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter) rs1327562179
NM_001267550.2(TTN):c.57742C>A (p.Leu19248Ile) rs1553655240
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe) rs1370515925
NM_001267550.2(TTN):c.57833T>C (p.Ile19278Thr) rs1060500546
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.5793del (p.Arg1932fs)
NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)
NM_001267550.2(TTN):c.58009G>A (p.Asp19337Asn) rs1239348052
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del) rs397517634
NM_001267550.2(TTN):c.58084G>T (p.Val19362Phe) rs878854321
NM_001267550.2(TTN):c.5808del (p.Arg1936fs) rs2154345980
NM_001267550.2(TTN):c.58141G>A (p.Asp19381Asn) rs1325584288
NM_001267550.2(TTN):c.5814_5815insT (p.Leu1939fs) rs2154345971
NM_001267550.2(TTN):c.58150+4T>C
NM_001267550.2(TTN):c.58150+5G>A rs2050944617
NM_001267550.2(TTN):c.58299T>A (p.Thr19433=) rs778334134
NM_001267550.2(TTN):c.58303A>G (p.Ile19435Val) rs749402480
NM_001267550.2(TTN):c.58374T>G (p.Cys19458Trp) rs777855018
NM_001267550.2(TTN):c.58381G>A (p.Val19461Met) rs368431326
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr) rs920055688
NM_001267550.2(TTN):c.584-1G>T
NM_001267550.2(TTN):c.58433-15T>G rs2050786898
NM_001267550.2(TTN):c.58445C>T (p.Pro19482Leu) rs746380279
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg) rs572691153
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg) rs886055260
NM_001267550.2(TTN):c.5867del (p.Lys1956fs) rs1554006249
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys) rs779755661
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)
NM_001267550.2(TTN):c.5889_5922del (p.Val1964fs) rs2092170508
NM_001267550.2(TTN):c.58958G>A (p.Arg19653Gln) rs1398360418
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val) rs886055259
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=) rs886042123
NM_001267550.2(TTN):c.59035+3A>G
NM_001267550.2(TTN):c.59035+6G>A rs753714590
NM_001267550.2(TTN):c.59035+6_59035+8del rs1553648631
NM_001267550.2(TTN):c.59036C>T (p.Ala19679Val) rs1238012891
NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr) rs763636451
NM_001267550.2(TTN):c.59200C>T (p.Pro19734Ser) rs563889482
NM_001267550.2(TTN):c.59240T>G (p.Leu19747Arg) rs2154185954
NM_001267550.2(TTN):c.5933del (p.Lys1978fs) rs2092169389
NM_001267550.2(TTN):c.59340G>C (p.Arg19780Ser) rs1327554085
NM_001267550.2(TTN):c.59344G>C (p.Glu19782Gln)
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr) rs1553647309
NM_001267550.2(TTN):c.59451A>C (p.Lys19817Asn) rs1553647180
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59626G>A (p.Asp19876Asn) rs1244294413
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr) rs1060500395
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter) rs758483877
NM_001267550.2(TTN):c.59888T>C (p.Val19963Ala) rs1553645836
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe) rs1553645773
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu) rs1021499065
NM_001267550.2(TTN):c.599del (p.Pro200fs)
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del) rs761360903
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=) rs1215674180
NM_001267550.2(TTN):c.60305T>G (p.Ile20102Arg) rs998020901
NM_001267550.2(TTN):c.60323C>G (p.Pro20108Arg)
NM_001267550.2(TTN):c.60345T>A (p.Asp20115Glu) rs376618165
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser) rs375009570
NM_001267550.2(TTN):c.60490G>A (p.Val20164Ile) rs72646843
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
NM_001267550.2(TTN):c.60755T>C (p.Ile20252Thr) rs752999797
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr) rs886055256
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His) rs2050065045
NM_001267550.2(TTN):c.60871T>G (p.Ser20291Ala) rs1553643238
NM_001267550.2(TTN):c.60920A>T (p.Tyr20307Phe) rs1553643111
NM_001267550.2(TTN):c.60952G>C (p.Val20318Leu)
NM_001267550.2(TTN):c.60968C>T (p.Thr20323Ile) rs1060500415
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly) rs1226541281
NM_001267550.2(TTN):c.61215A>G (p.Gly20405=) rs1220596514
NM_001267550.2(TTN):c.61244_61245inv (p.Thr20415Met)
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu) rs1393006247
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg) rs1472565206
NM_001267550.2(TTN):c.61709C>G (p.Pro20570Arg) rs1559576730
NM_001267550.2(TTN):c.618_630del (p.Ile207fs) rs2154358671
NM_001267550.2(TTN):c.62005C>T (p.Pro20669Ser) rs1553641246
NM_001267550.2(TTN):c.62008G>C (p.Gly20670Arg) rs774150150
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu) rs2049804283
NM_001267550.2(TTN):c.62137G>T (p.Asp20713Tyr) rs1177521349
NM_001267550.2(TTN):c.62165G>A (p.Ser20722Asn) rs568728579
NM_001267550.2(TTN):c.62222T>G (p.Phe20741Cys) rs1553640801
NM_001267550.2(TTN):c.62262G>C (p.Trp20754Cys) rs1060500414
NM_001267550.2(TTN):c.62289AGA[1] (p.Glu20764del) rs751783806
NM_001267550.2(TTN):c.62299C>G (p.Gln20767Glu) rs1553640642
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn) rs1218971734
NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter) rs750064248
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) rs727505316
NM_001267550.2(TTN):c.62618T>C (p.Ile20873Thr) rs1060500438
NM_001267550.2(TTN):c.62678_62679delinsTT (p.Gly20893Val) rs1060500476
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr) rs370080086
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp) rs2049635543
NM_001267550.2(TTN):c.6290dup (p.Arg2098fs)
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.62939T>C (p.Met20980Thr) rs757789191
NM_001267550.2(TTN):c.63032T>A (p.Val21011Asp) rs1553639384
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr) rs1169239147
NM_001267550.2(TTN):c.63064C>T (p.Arg21022Cys) rs779112015
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile) rs1060500596
NM_001267550.2(TTN):c.63096T>A (p.His21032Gln) rs1559561109
NM_001267550.2(TTN):c.63187+5G>A rs1292388582
NM_001267550.2(TTN):c.63250G>A (p.Gly21084Arg) rs1559557623
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup) rs750904641
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) rs558727238
NM_001267550.2(TTN):c.63298G>A (p.Val21100Ile) rs774240012
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)
NM_001267550.2(TTN):c.63343G>A (p.Gly21115Ser) rs1559556478
NM_001267550.2(TTN):c.63446A>C (p.Asn21149Thr) rs1060500527
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.63674T>C (p.Val21225Ala) rs1396646735
NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter) rs754781119
NM_001267550.2(TTN):c.63793+4G>C rs777513250
NM_001267550.2(TTN):c.63793+5G>A rs2049296291
NM_001267550.2(TTN):c.63793G>T (p.Asp21265Tyr) rs794729474
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter) rs2092121151
NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter) rs762914675
NM_001267550.2(TTN):c.64093+4A>C
NM_001267550.2(TTN):c.64093+4_64093+7del rs1437065772
NM_001267550.2(TTN):c.6409del (p.Val2137fs) rs2092117117
NM_001267550.2(TTN):c.64119A>C (p.Leu21373Phe) rs753245626
NM_001267550.2(TTN):c.64123G>C (p.Val21375Leu) rs371670651
NM_001267550.2(TTN):c.64396+4A>G rs2049020856
NM_001267550.2(TTN):c.64541C>T (p.Ala21514Val) rs1060500520
NM_001267550.2(TTN):c.64672G>A (p.Asp21558Asn)
NM_001267550.2(TTN):c.64672G>T (p.Asp21558Tyr)
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His) rs1213776805
NM_001267550.2(TTN):c.64688C>G (p.Pro21563Arg)
NM_001267550.2(TTN):c.64732T>G (p.Ser21578Ala) rs1553633161
NM_001267550.2(TTN):c.64753C>A (p.Leu21585Met) rs772957708
NM_001267550.2(TTN):c.64781A>C (p.Asn21594Thr) rs1060500570
NM_001267550.2(TTN):c.64860G>C (p.Arg21620Ser) rs373713828
NM_001267550.2(TTN):c.64937T>C (p.Leu21646Pro) rs1060500539
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu) rs886055255
NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)
NM_001267550.2(TTN):c.65024G>A (p.Cys21675Tyr) rs1060500571
NM_001267550.2(TTN):c.65048C>A (p.Pro21683Gln) rs1328998714
NM_001267550.2(TTN):c.65072T>C (p.Ile21691Thr) rs1060500388
NM_001267550.2(TTN):c.6509-1G>T
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His) rs371581072
NM_001267550.2(TTN):c.65114T>A (p.Leu21705Gln) rs2154179812
NM_001267550.2(TTN):c.65159C>T (p.Pro21720Leu) rs878854325
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser) rs1320436212
NM_001267550.2(TTN):c.6520A>G (p.Ile2174Val) rs1171508892
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65546C>T (p.Ser21849Phe) rs1060500465
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) rs767001973
NM_001267550.2(TTN):c.6564del (p.Asp2189fs)
NM_001267550.2(TTN):c.6570dup (p.Met2191fs) rs2092066056
NM_001267550.2(TTN):c.65812_65863+6del rs2048116266
NM_001267550.2(TTN):c.65863G>A (p.Asp21955Asn) rs1428859947
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66256C>T (p.Pro22086Ser) rs1060500491
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys) rs771219209
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) rs1447894010
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp) rs1559507734
NM_001267550.2(TTN):c.66430G>T (p.Ala22144Ser) rs183276016
NM_001267550.2(TTN):c.66463+2dup rs1276825352
NM_001267550.2(TTN):c.66463+4dup
NM_001267550.2(TTN):c.66463+5G>A
NM_001267550.2(TTN):c.66463+5G>C
NM_001267550.2(TTN):c.66565A>G (p.Ile22189Val) rs886055254
NM_001267550.2(TTN):c.66578T>C (p.Val22193Ala) rs775454536
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) rs768049902
NM_001267550.2(TTN):c.6675C>G (p.Asp2225Glu) rs1002616301
NM_001267550.2(TTN):c.66769+4_66769+7del rs727504189
NM_001267550.2(TTN):c.66769+5G>A
NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser) rs781220405
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.6688T>C (p.Phe2230Leu) rs1060500424
NM_001267550.2(TTN):c.669+1G>T
NM_001267550.2(TTN):c.669+2T>C
NM_001267550.2(TTN):c.669+3A>G
NM_001267550.2(TTN):c.66926A>T (p.Asp22309Val) rs1481781346
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr) rs886055253
NM_001267550.2(TTN):c.66del (p.Ala23fs)
NM_001267550.2(TTN):c.670-1G>A rs1054895701
NM_001267550.2(TTN):c.67056T>C (p.Leu22352=) rs747715690
NM_001267550.2(TTN):c.67057+3A>C
NM_001267550.2(TTN):c.6712dup (p.Thr2238fs) rs2092039557
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg) rs201284459
NM_001267550.2(TTN):c.67195A>G (p.Lys22399Glu) rs1060500421
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr) rs1559493839
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met) rs1553622336
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala) rs1553622176
NM_001267550.2(TTN):c.67636+2_67636+3insC rs2047225762
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met) rs794729244
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=) rs886055302
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro) rs780276317
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile) rs1254285646
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu) rs886055252
NM_001267550.2(TTN):c.6790+1G>T
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala) rs1060500506
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser) rs375397094
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile) rs1553620392
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68224+3_68224+6del
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
NM_001267550.2(TTN):c.6825del (p.Asp2275fs) rs2091959062
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg) rs2154174748
NM_001267550.2(TTN):c.68432G>T (p.Gly22811Val) rs78806155
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu) rs876658077
NM_001267550.2(TTN):c.68527G>C (p.Asp22843His)
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer) rs2154345136
NM_001267550.2(TTN):c.68824+3A>G
NM_001267550.2(TTN):c.68921A>G (p.Lys22974Arg) rs1559471235
NM_001267550.2(TTN):c.68990C>A (p.Thr22997Asn) rs886043272
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.69172A>T (p.Thr23058Ser) rs752304059
NM_001267550.2(TTN):c.69212C>T (p.Pro23071Leu) rs367664195
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val) rs1398776954
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met) rs755341733
NM_001267550.2(TTN):c.69506G>T (p.Ser23169Ile) rs879245080
NM_001267550.2(TTN):c.69715+5G>C rs1553615539
NM_001267550.2(TTN):c.69715_69715+3dup rs2154173093
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser) rs1060500455
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) rs752879532
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala) rs1553614524
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val) rs769672151
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys) rs765861604
NM_001267550.2(TTN):c.7026del (p.Lys2344fs) rs1211627330
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs) rs2091933920
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met) rs1553614105
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His) rs72646888
NM_001267550.2(TTN):c.7057+1G>C
NM_001267550.2(TTN):c.7057+1del
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile) rs542004766
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) rs886055250
NM_001267550.2(TTN):c.70655C>T (p.Ala23552Val) rs754742503
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile) rs397517687
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu) rs368325616
NM_001267550.2(TTN):c.70830C>A (p.Ser23610Arg) rs12464787
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer) rs2154344972
NM_001267550.2(TTN):c.71140G>A (p.Glu23714Lys) rs767016969
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp) rs774327480
NM_001267550.2(TTN):c.71249C>T (p.Pro23750Leu)
NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser) rs776889753
NM_001267550.2(TTN):c.71388G>T (p.Glu23796Asp) rs878854330
NM_001267550.2(TTN):c.71408C>T (p.Ala23803Val) rs1553611543
NM_001267550.2(TTN):c.71476G>C (p.Val23826Leu) rs377751708
NM_001267550.2(TTN):c.7148del (p.Ser2383fs) rs1060500437
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
NM_001267550.2(TTN):c.71568C>A (p.Ser23856Arg) rs1060500519
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr) rs770250820
NM_001267550.2(TTN):c.71654T>C (p.Ile23885Thr) rs1488254665
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter) rs2154344933
NM_001267550.2(TTN):c.71819C>T (p.Thr23940Ile) rs1553610793
NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg) rs553796385
NM_001267550.2(TTN):c.71876A>G (p.Tyr23959Cys) rs1709290294
NM_001267550.2(TTN):c.71891G>A (p.Arg23964Lys) rs770679732
NM_001267550.2(TTN):c.71956G>A (p.Val23986Ile) rs754373279
NM_001267550.2(TTN):c.71C>T (p.Thr24Ile) rs536235994
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.72106A>C (p.Lys24036Gln) rs544263357
NM_001267550.2(TTN):c.72106A>G (p.Lys24036Glu) rs544263357
NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly) rs771209223
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser) rs372662393
NM_001267550.2(TTN):c.72231A>C (p.Glu24077Asp) rs1423712037
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) rs747828487
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn) rs886055248
NM_001267550.2(TTN):c.72521C>T (p.Ala24174Val) rs1709019921
NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp) rs878854331
NM_001267550.2(TTN):c.72572A>C (p.Asn24191Thr) rs1479698498
NM_001267550.2(TTN):c.72611G>A (p.Gly24204Glu) rs1553609189
NM_001267550.2(TTN):c.72716T>C (p.Met24239Thr) rs750298083
NM_001267550.2(TTN):c.72743C>G (p.Ser24248Cys) rs1060500474
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
NM_001267550.2(TTN):c.72923C>G (p.Pro24308Arg) rs1553608507
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe) rs879004898
NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys) rs1553608093
NM_001267550.2(TTN):c.73169C>A (p.Thr24390Lys) rs1060500583
NM_001267550.2(TTN):c.7330+1_7330+8del
NM_001267550.2(TTN):c.7331-1G>A
NM_001267550.2(TTN):c.73334C>A (p.Thr24445Asn) rs377334665
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) rs756809007
NM_001267550.2(TTN):c.73570C>A (p.Gln24524Lys) rs753429609
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys) rs777738635
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.7368G>C (p.Val2456=) rs886055301
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=) rs886055247
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile) rs1060500561
NM_001267550.2(TTN):c.73896_73897insACT (p.Ser24632_Val24633insThr) rs1060500433
NM_001267550.2(TTN):c.73904T>C (p.Leu24635Pro) rs1553606189
NM_001267550.2(TTN):c.73954A>G (p.Ile24652Val) rs760045336
NM_001267550.2(TTN):c.74021C>T (p.Ala24674Val) rs1158950009
NM_001267550.2(TTN):c.74024C>G (p.Thr24675Ser) rs1553606008
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala) rs886055300
NM_001267550.2(TTN):c.74057C>T (p.Ser24686Phe) rs727504921
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile) rs1228257559
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile) rs1055906361
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=) rs1060503924
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter) rs2091844239
NM_001267550.2(TTN):c.74519C>A (p.Ser24840Tyr) rs1060500559
NM_001267550.2(TTN):c.74573T>C (p.Ile24858Thr) rs1708197097
NM_001267550.2(TTN):c.74608G>C (p.Ala24870Pro) rs768892376
NM_001267550.2(TTN):c.74612G>A (p.Cys24871Tyr) rs1553604956
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986
NM_001267550.2(TTN):c.74704G>A (p.Ala24902Thr) rs1260354990
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_001267550.2(TTN):c.74830C>A (p.His24944Asn) rs779868325
NM_001267550.2(TTN):c.74895A>G (p.Gln24965=) rs201512527
NM_001267550.2(TTN):c.7493del (p.Thr2498fs) rs2154344697
NM_001267550.2(TTN):c.74988A>C (p.Lys24996Asn) rs933609400
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) rs559907766
NM_001267550.2(TTN):c.75161T>C (p.Met25054Thr) rs1553604004
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter) rs780415493
NM_001267550.2(TTN):c.75255T>C (p.Asn25085=) rs1707950573
NM_001267550.2(TTN):c.75277C>G (p.Pro25093Ala) rs748359400
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001267550.2(TTN):c.75311A>T (p.Asp25104Val) rs534319705
NM_001267550.2(TTN):c.75325C>T (p.Pro25109Ser) rs1060500498
NM_001267550.2(TTN):c.75359C>A (p.Thr25120Lys) rs878854333
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=) rs1234238096
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu) rs1707781335
NM_001267550.2(TTN):c.75653C>T (p.Thr25218Ile) rs1060500521
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn) rs1707754880
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro) rs1559388448
NM_001267550.2(TTN):c.75913C>T (p.Pro25305Ser) rs1005621705
NM_001267550.2(TTN):c.7594+2T>A rs2091827779
NM_001267550.2(TTN):c.7594+3A>G rs769765778
NM_001267550.2(TTN):c.75952A>G (p.Lys25318Glu) rs878854334
NM_001267550.2(TTN):c.75968T>G (p.Val25323Gly) rs781058398
NM_001267550.2(TTN):c.7599del (p.Ile2535fs) rs2091811840
NM_001267550.2(TTN):c.76186T>G (p.Tyr25396Asp) rs771853872
NM_001267550.2(TTN):c.76187A>G (p.Tyr25396Cys) rs1060500403
NM_001267550.2(TTN):c.7624C>T (p.Leu2542Phe) rs762722498
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) rs765136135
NM_001267550.2(TTN):c.7628C>T (p.Thr2543Ile) rs765136135
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=) rs868081432
NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp) rs748296171
NM_001267550.2(TTN):c.7639del (p.Thr2547fs) rs1060500400
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.76492C>A (p.Pro25498Thr) rs377754701
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) rs377754701
NM_001267550.2(TTN):c.76607G>T (p.Gly25536Val) rs1021201663
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu) rs1002726225
NM_001267550.2(TTN):c.76711G>A (p.Val25571Ile) rs760782774
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met) rs374913031
NM_001267550.2(TTN):c.76838T>A (p.Ile25613Asn) rs1553601096
NM_001267550.2(TTN):c.76858A>G (p.Ile25620Val) rs773656560
NM_001267550.2(TTN):c.76931C>T (p.Thr25644Ile) rs1060500456
NM_001267550.2(TTN):c.76981A>G (p.Lys25661Glu) rs1553600919
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn) rs2091797961
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly) rs1306199809
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.77260C>A (p.Leu25754Ile)
NM_001267550.2(TTN):c.77365A>T (p.Ile25789Leu) rs1253687329
NM_001267550.2(TTN):c.7744G>A (p.Ala2582Thr) rs1060500576
NM_001267550.2(TTN):c.7756dup (p.Ile2586fs) rs1553999983
NM_001267550.2(TTN):c.77618C>T (p.Ala25873Val) rs751402631
NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter) rs1553999955
NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu) rs780196850
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del) rs754571796
NM_001267550.2(TTN):c.7789G>T (p.Asp2597Tyr) rs1553999887
NM_001267550.2(TTN):c.77911T>C (p.Tyr25971His) rs1432174919
NM_001267550.2(TTN):c.78006_78020del (p.Ile26002_Ser26006del) rs1064792913
NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile) rs786205378
NM_001267550.2(TTN):c.7807A>G (p.Thr2603Ala) rs775528928
NM_001267550.2(TTN):c.78118G>A (p.Val26040Ile) rs576341346
NM_001267550.2(TTN):c.7813del (p.Tyr2605fs) rs2154344465
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met) rs1371536406
NM_001267550.2(TTN):c.78370A>G (p.Ile26124Val) rs397517713
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn) rs778290450
NM_001267550.2(TTN):c.78466G>T (p.Asp26156Tyr) rs1553595170
NM_001267550.2(TTN):c.7846dup (p.Thr2616fs) rs2154344443
NM_001267550.2(TTN):c.78541C>T (p.Pro26181Ser) rs1553594900
NM_001267550.2(TTN):c.7855+5G>C
NM_001267550.2(TTN):c.7855G>A (p.Gly2619Ser)
NM_001267550.2(TTN):c.7856-1G>T rs2154343384
NM_001267550.2(TTN):c.7862C>T (p.Ala2621Val) rs753441258
NM_001267550.2(TTN):c.78637C>T (p.Leu26213Phe) rs1553594441
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln) rs754878387
NM_001267550.2(TTN):c.78707A>T (p.Glu26236Val) rs1559361218
NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala) rs1706144836
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu) rs727505061
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu) rs1377015752
NM_001267550.2(TTN):c.79264A>C (p.Ile26422Leu) rs1553590996
NM_001267550.2(TTN):c.79333C>T (p.Arg26445Cys) rs780658084
NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter) rs1574584676
NM_001267550.2(TTN):c.79645G>C (p.Glu26549Gln) rs1705910626
NM_001267550.2(TTN):c.79861_79862inv (p.Thr26621Val)
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.79987_79989del (p.Leu26663del) rs1193943076
NM_001267550.2(TTN):c.7999del (p.Ser2667fs)
NM_001267550.2(TTN):c.80159T>C (p.Ile26720Thr) rs879183549
NM_001267550.2(TTN):c.80252C>T (p.Ala26751Val) rs912122514
NM_001267550.2(TTN):c.80351C>G (p.Pro26784Arg) rs1553584164
NM_001267550.2(TTN):c.80459A>C (p.Gln26820Pro)
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg) rs886055243
NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)
NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp) rs768259414
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp) rs886055242
NM_001267550.2(TTN):c.8092del (p.Thr2698fs) rs2154343276
NM_001267550.2(TTN):c.80950G>A (p.Glu26984Lys) rs1060500562
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile) rs886055241
NM_001267550.2(TTN):c.81022T>G (p.Tyr27008Asp) rs72648211
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del) rs1163103954
NM_001267550.2(TTN):c.8116+5G>A rs1561231691
NM_001267550.2(TTN):c.81233C>A (p.Thr27078Asn) rs1553578982
NM_001267550.2(TTN):c.81302G>A (p.Gly27101Asp) rs201490050
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln) rs727504735
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro) rs1362825687
NM_001267550.2(TTN):c.8137_8138del (p.Leu2713fs)
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile) rs757768218
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly) rs794729512
NM_001267550.2(TTN):c.81509C>T (p.Pro27170Leu) rs774553407
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg) rs773107849
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup) rs773439628
NM_001267550.2(TTN):c.81875C>T (p.Thr27292Ile) rs1060500393
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg) rs778983249
NM_001267550.2(TTN):c.82193G>A (p.Gly27398Asp) rs1553574305
NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter) rs1553995639
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82303C>A (p.Leu27435Ile) rs1060500432
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala) rs753766297
NM_001267550.2(TTN):c.82796G>A (p.Gly27599Asp) rs1553571755
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg) rs199929362
NM_001267550.2(TTN):c.8285A>T (p.Tyr2762Phe) rs1553995474
NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter) rs1574570125
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
NM_001267550.2(TTN):c.82919C>G (p.Thr27640Ser) rs1553571185
NM_001267550.2(TTN):c.83095A>C (p.Ile27699Leu) rs1553570628
NM_001267550.2(TTN):c.83165T>G (p.Ile27722Arg) rs794729515
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser) rs886055238
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.83317T>G (p.Leu27773Val) rs376683928
NM_001267550.2(TTN):c.833del (p.Ala278fs)
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly) rs886055237
NM_001267550.2(TTN):c.83590C>T (p.Pro27864Ser) rs1553568366
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter) rs1553995241
NM_001267550.2(TTN):c.8373C>T (p.His2791=) rs566816279
NM_001267550.2(TTN):c.8380+1G>A rs794729306
NM_001267550.2(TTN):c.8380+5G>T rs2154342828
NM_001267550.2(TTN):c.83939T>C (p.Leu27980Pro) rs1060500536
NM_001267550.2(TTN):c.84004A>C (p.Thr28002Pro) rs369737884
NM_001267550.2(TTN):c.84196G>A (p.Glu28066Lys) rs1703825463
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr) rs200450022
NM_001267550.2(TTN):c.84299C>T (p.Thr28100Ile)
NM_001267550.2(TTN):c.84304T>C (p.Trp28102Arg) rs1553565393
NM_001267550.2(TTN):c.84332G>A (p.Arg28111Lys) rs1060500463
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe) rs753201539
NM_001267550.2(TTN):c.8433del (p.Val2812fs) rs2091273665
NM_001267550.2(TTN):c.84353G>A (p.Arg28118His) rs72648220
NM_001267550.2(TTN):c.84794C>A (p.Thr28265Lys) rs376874908
NM_001267550.2(TTN):c.84797_84799del (p.Arg28266del) rs1553564204
NM_001267550.2(TTN):c.848del (p.Pro283fs) rs2154358488
NM_001267550.2(TTN):c.84968A>G (p.Tyr28323Cys) rs1285180382
NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter) rs1553994874
NM_001267550.2(TTN):c.8500del (p.Ile2834fs)
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=) rs1703401045
NM_001267550.2(TTN):c.85402T>C (p.Cys28468Arg) rs1553563147
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=) rs758811159
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr) rs56330345
NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met) rs886055234
NM_001267550.2(TTN):c.85748C>T (p.Ser28583Phe) rs1553562507
NM_001267550.2(TTN):c.85769G>C (p.Arg28590Pro) rs375667028
NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter) rs1574564600
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His) rs1477861188
NM_001267550.2(TTN):c.86030T>C (p.Phe28677Ser) rs1553561985
NM_001267550.2(TTN):c.86242A>G (p.Arg28748Gly) rs1553561470
NM_001267550.2(TTN):c.86290T>A (p.Leu28764Met) rs1553561353
NM_001267550.2(TTN):c.86292G>C (p.Leu28764Phe) rs1553561345
NM_001267550.2(TTN):c.86294T>C (p.Ile28765Thr) rs1553561335
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu) rs561319491
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala) rs727505234
NM_001267550.2(TTN):c.86417C>T (p.Ser28806Phe) rs1060500445
NM_001267550.2(TTN):c.86419C>T (p.Arg28807Cys) rs765632053
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86762G>A (p.Gly28921Glu) rs1553559912
NM_001267550.2(TTN):c.86822-8T>G
NM_001267550.2(TTN):c.86851G>C (p.Val28951Leu) rs878854426
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile) rs72647884
NM_001267550.2(TTN):c.86974T>G (p.Cys28992Gly) rs769162510
NM_001267550.2(TTN):c.87145T>C (p.Phe29049Leu) rs1553556217
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His) rs1181280302
NM_001267550.2(TTN):c.87407A>C (p.Asp29136Ala) rs768756948
NM_001267550.2(TTN):c.87535G>C (p.Glu29179Gln) rs1553554743
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del) rs753636173
NM_001267550.2(TTN):c.87733T>C (p.Trp29245Arg) rs771722716
NM_001267550.2(TTN):c.8781dup (p.Lys2928fs)
NM_001267550.2(TTN):c.8789_8796del (p.Val2930fs) rs1574559518
NM_001267550.2(TTN):c.87904A>T (p.Ile29302Phe) rs1553552999
NM_001267550.2(TTN):c.88010-2dup rs1701799962
NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala) rs878854427
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=) rs748102856
NM_001267550.2(TTN):c.88047G>C (p.Lys29349Asn) rs748102856
NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp) rs55898359
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.88238G>A (p.Arg29413Lys) rs1553551467
NM_001267550.2(TTN):c.88280G>A (p.Gly29427Glu) rs1188741659
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.8858_8859del (p.Phe2953fs) rs2154342483
NM_001267550.2(TTN):c.88593T>C (p.Leu29531=) rs1553547141
NM_001267550.2(TTN):c.88594+5G>T
NM_001267550.2(TTN):c.88595-6T>G rs1553546842
NM_001267550.2(TTN):c.88595-9C>G rs1559233127
NM_001267550.2(TTN):c.88694A>C (p.Lys29565Thr) rs1263180064
NM_001267550.2(TTN):c.88708A>C (p.Ile29570Leu) rs139506970
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val) rs1700602244
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys) rs1553545836
NM_001267550.2(TTN):c.88829C>A (p.Ala29610Asp) rs1060500410
NM_001267550.2(TTN):c.88836C>A (p.Asn29612Lys) rs767347782
NM_001267550.2(TTN):c.8884del (p.Ala2962fs) rs794729372
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=) rs201241167
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys) rs879222602
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala) rs766178585
NM_001267550.2(TTN):c.88894+5G>A rs2154152920
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala) rs879233366
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu) rs200639218
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del) rs771616392
NM_001267550.2(TTN):c.8902C>G (p.Pro2968Ala) rs773875566
NM_001267550.2(TTN):c.8903-2A>T
NM_001267550.2(TTN):c.89195T>A (p.Ile29732Asn) rs769020530
NM_001267550.2(TTN):c.89197+2dup rs2154152416
NM_001267550.2(TTN):c.89197+5G>A rs1060500534
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr) rs886055232
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala) rs201620815
NM_001267550.2(TTN):c.89494G>C (p.Asp29832His) rs878854430
NM_001267550.2(TTN):c.89500C>G (p.Leu29834Val) rs761591533
NM_001267550.2(TTN):c.89503+5G>T rs2154152059
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly) rs1700105269
NM_001267550.2(TTN):c.89704G>A (p.Val29902Ile)
NM_001267550.2(TTN):c.89711G>T (p.Arg29904Leu) rs397517744
NM_001267550.2(TTN):c.89716G>A (p.Asp29906Asn) rs770892973
NM_001267550.2(TTN):c.89776G>A (p.Val29926Met) rs1553541468
NM_001267550.2(TTN):c.8989A>G (p.Ile2997Val) rs879242806
NM_001267550.2(TTN):c.89953C>T (p.His29985Tyr) rs557248616
NM_001267550.2(TTN):c.8997del (p.Ser2998_Tyr2999insTer)
NM_001267550.2(TTN):c.89G>A (p.Ser30Asn) rs767153909
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val) rs777636306
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe) rs750520740
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
NM_001267550.2(TTN):c.9050del (p.Arg3017fs)
NM_001267550.2(TTN):c.90512C>T (p.Pro30171Leu) rs2154151253
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly) rs769360937
NM_001267550.2(TTN):c.90614T>C (p.Ile30205Thr) rs1283032526
NM_001267550.2(TTN):c.90656T>A (p.Val30219Asp) rs1060500535
NM_001267550.2(TTN):c.9065C>T (p.Thr3022Ile)
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr) rs879126335
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.90814T>A (p.Trp30272Arg) rs777716014
NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn) rs1307577297
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg) rs397517751
NM_001267550.2(TTN):c.90941G>C (p.Ser30314Thr) rs763875418
NM_001267550.2(TTN):c.90944T>C (p.Ile30315Thr) rs755698637
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr) rs11887722
NM_001267550.2(TTN):c.91+1G>A rs2154360987
NM_001267550.2(TTN):c.91+5G>T
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn) rs774523194
NM_001267550.2(TTN):c.91270+4A>G rs1699482474
NM_001267550.2(TTN):c.91288G>A (p.Asp30430Asn) rs1060500406
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr) rs561319486
NM_001267550.2(TTN):c.914+3A>G
NM_001267550.2(TTN):c.914+4A>C
NM_001267550.2(TTN):c.915-2A>G
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr) rs1699227127
NM_001267550.2(TTN):c.91542TAT[1] (p.Ile30515del) rs748002494
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.91564+5G>A rs758591518
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.9164-1G>A rs2090846146
NM_001267550.2(TTN):c.91707G>C (p.Lys30569Asn) rs1060500543
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.91753T>G (p.Phe30585Val) rs1060500507
NM_001267550.2(TTN):c.91760_91762del (p.Arg30587_Asp30588delinsAsn) rs1060500517
NM_001267550.2(TTN):c.91852+3A>G
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala) rs886055231
NM_001267550.2(TTN):c.9192del (p.Lys3065fs)
NM_001267550.2(TTN):c.91999T>C (p.Trp30667Arg) rs72648246
NM_001267550.2(TTN):c.92-1G>A
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter) rs780706937
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr) rs1289817129
NM_001267550.2(TTN):c.92350G>C (p.Gly30784Arg) rs979303656
NM_001267550.2(TTN):c.92417C>A (p.Ala30806Glu) rs1060500407
NM_001267550.2(TTN):c.92434C>A (p.Leu30812Ile) rs776239659
NM_001267550.2(TTN):c.92645C>A (p.Thr30882Lys) rs1698296911
NM_001267550.2(TTN):c.92691T>A (p.Ser30897Arg) rs1553532921
NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter) rs2154341535
NM_001267550.2(TTN):c.92755C>T (p.Arg30919Trp)
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.9291_9292delinsTT (p.Gln3098Ter) rs1574528825
NM_001267550.2(TTN):c.92944A>G (p.Thr30982Ala) rs1060500555
NM_001267550.2(TTN):c.92979A>C (p.Lys30993Asn) rs754893239
NM_001267550.2(TTN):c.92991T>C (p.Thr30997=) rs1553531443
NM_001267550.2(TTN):c.93040C>G (p.Leu31014Val) rs1060500404
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
NM_001267550.2(TTN):c.93047C>T (p.Thr31016Ile) rs1553531270
NM_001267550.2(TTN):c.9305+4A>G rs746628782
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
NM_001267550.2(TTN):c.93105G>T (p.Leu31035Phe) rs1553531017
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys) rs750213547
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys) rs750303653
NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)
NM_001267550.2(TTN):c.93601T>C (p.Phe31201Leu) rs1553528695
NM_001267550.2(TTN):c.93607T>C (p.Ser31203Pro) rs1553528649
NM_001267550.2(TTN):c.93646G>A (p.Asp31216Asn) rs1321355074
NM_001267550.2(TTN):c.93665A>G (p.Asn31222Ser) rs1559164640
NM_001267550.2(TTN):c.93680G>A (p.Cys31227Tyr) rs1260979974
NM_001267550.2(TTN):c.93692G>A (p.Ser31231Asn) rs1060500565
NM_001267550.2(TTN):c.93704T>C (p.Ile31235Thr) rs1246425366
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg) rs1553527043
NM_001267550.2(TTN):c.94039G>C (p.Glu31347Gln) rs886055230
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu) rs794729536
NM_001267550.2(TTN):c.94180C>T (p.Pro31394Ser) rs1321500671
NM_001267550.2(TTN):c.9420_9421del (p.Phe3141fs) rs2154341414
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=) rs1042759526
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.94282C>T (p.Arg31428Cys) rs190282707
NM_001267550.2(TTN):c.94349G>A (p.Arg31450His) rs751985617
NM_001267550.2(TTN):c.94399A>C (p.Asn31467His) rs1553524710
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys) rs879013044
NM_001267550.2(TTN):c.9448C>G (p.Arg3150Gly) rs146572907
NM_001267550.2(TTN):c.94522+5G>T rs767084102
NM_001267550.2(TTN):c.94523A>G (p.Asp31508Gly) rs772571812
NM_001267550.2(TTN):c.9461del (p.Lys3154fs) rs2154341391
NM_001267550.2(TTN):c.9472-1G>C
NM_001267550.2(TTN):c.9472-1G>T
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser) rs1385680314
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_001267550.2(TTN):c.95146A>G (p.Thr31716Ala) rs1575444115
NM_001267550.2(TTN):c.95152A>C (p.Ser31718Arg) rs781462223
NM_001267550.2(TTN):c.95158G>A (p.Val31720Ile) rs1575443877
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=) rs376944872
NM_001267550.2(TTN):c.95173T>C (p.Cys31725Arg)
NM_001267550.2(TTN):c.95174G>A (p.Cys31725Tyr)
NM_001267550.2(TTN):c.95179T>G (p.Leu31727Val)
NM_001267550.2(TTN):c.95182G>A (p.Ala31728Thr)
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95188A>T (p.Ser31730Cys) rs1213250473
NM_001267550.2(TTN):c.95190C>A (p.Ser31730Arg) rs1696951026
NM_001267550.2(TTN):c.95191C>T (p.Leu31731Phe) rs1364685585
NM_001267550.2(TTN):c.95206G>A (p.Gly31736Arg) rs771799061
NM_001267550.2(TTN):c.95207G>C (p.Gly31736Ala) rs1401862112
NM_001267550.2(TTN):c.95222C>T (p.Thr31741Ile) rs1553521179
NM_001267550.2(TTN):c.95224C>G (p.His31742Asp)
NM_001267550.2(TTN):c.95240G>A (p.Arg31747Lys)
NM_001267550.2(TTN):c.95258T>C (p.Leu31753Pro)
NM_001267550.2(TTN):c.95265G>T (p.Trp31755Cys)
NM_001267550.2(TTN):c.95272G>C (p.Val31758Leu) rs1696907299
NM_001267550.2(TTN):c.95279G>A (p.Gly31760Asp) rs1696902914
NM_001267550.2(TTN):c.95290A>G (p.Thr31764Ala) rs1175551497
NM_001267550.2(TTN):c.95300A>G (p.Tyr31767Cys) rs1431446089
NM_001267550.2(TTN):c.95302G>A (p.Val31768Ile)
NM_001267550.2(TTN):c.95302G>C (p.Val31768Leu) rs1696890603
NM_001267550.2(TTN):c.95314C>T (p.Leu31772Phe) rs2154145497
NM_001267550.2(TTN):c.95326A>T (p.Asn31776Tyr) rs2154145486
NM_001267550.2(TTN):c.95327A>G (p.Asn31776Ser) rs1696881072
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu) rs886039071
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu) rs1334781459
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) rs748984928
NM_001267550.2(TTN):c.95342G>C (p.Arg31781Pro) rs748984928
NM_001267550.2(TTN):c.95350G>A (p.Ala31784Thr)
NM_001267550.2(TTN):c.95351C>A (p.Ala31784Glu)
NM_001267550.2(TTN):c.95353G>A (p.Val31785Ile)
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser) rs1696865626
NM_001267550.2(TTN):c.95361A>T (p.Lys31787Asn)
NM_001267550.2(TTN):c.95368C>G (p.Pro31790Ala)
NM_001267550.2(TTN):c.95371G>C (p.Gly31791Arg) rs1696856005
NM_001267550.2(TTN):c.95372G>C (p.Gly31791Ala) rs869320744
NM_001267550.2(TTN):c.95374G>A (p.Val31792Met)
NM_001267550.2(TTN):c.95375T>G (p.Val31792Gly)
NM_001267550.2(TTN):c.95377C>A (p.Pro31793Thr) rs1466581888
NM_001267550.2(TTN):c.9538T>C (p.Tyr3180His) rs1553987902
NM_001267550.2(TTN):c.95404A>G (p.Arg31802Gly)
NM_001267550.2(TTN):c.95415C>G (p.Phe31805Leu) rs587780983
NM_001267550.2(TTN):c.95416+5G>T rs1696830213
NM_001267550.2(TTN):c.95480A>T (p.Gln31827Leu) rs1553520567
NM_001267550.2(TTN):c.95484G>C (p.Trp31828Cys) rs1553520556
NM_001267550.2(TTN):c.9548del (p.Gly3183fs) rs2090460301
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=) rs1696713042
NM_001267550.2(TTN):c.9551T>C (p.Ile3184Thr) rs1553987863
NM_001267550.2(TTN):c.95540G>C (p.Arg31847Pro) rs771179752
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del) rs727504556
NM_001267550.2(TTN):c.95560T>C (p.Trp31854Arg)
NM_001267550.2(TTN):c.95698T>C (p.Phe31900Leu) rs1553520146
NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys) rs33997263
NM_001267550.2(TTN):c.95722+3G>T
NM_001267550.2(TTN):c.95931G>A (p.Met31977Ile) rs1575423808
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.96011A>G (p.Glu32004Gly) rs1553519065
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg) rs375368824
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys) rs794729542
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser) rs1553518099
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val) rs972033083
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys) rs886055229
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro) rs2154143527
NM_001267550.2(TTN):c.9657del (p.Phe3220fs)
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr) rs1060500595
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys) rs967418486
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys) rs1060500512
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met) rs956461857
NM_001267550.2(TTN):c.9703+5G>A rs2090429977
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys) rs1695237277
NM_001267550.2(TTN):c.97054C>G (p.Arg32352Gly) rs753874904
NM_001267550.2(TTN):c.9718dup (p.Gln3240fs)
NM_001267550.2(TTN):c.97192+5G>A rs2154142801
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg) rs864622675
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp) rs1060500592
NM_001267550.2(TTN):c.97318C>T (p.Arg32440Cys) rs759932470
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys) rs1257117887
NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=) rs886055228
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu) rs1060500477
NM_001267550.2(TTN):c.97592T>C (p.Val32531Ala) rs1060500477
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr) rs766499138
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.97795G>A (p.Ala32599Thr) rs1694398754
NM_001267550.2(TTN):c.97888T>G (p.Ser32630Ala) rs1553512070
NM_001267550.2(TTN):c.97978T>G (p.Tyr32660Asp) rs781416687
NM_001267550.2(TTN):c.97992C>A (p.His32664Gln) rs794729549
NM_001267550.2(TTN):c.98051G>C (p.Gly32684Ala) rs774041992
NM_001267550.2(TTN):c.98164A>C (p.Ile32722Leu) rs72648270
NM_001267550.2(TTN):c.98214G>C (p.Trp32738Cys) rs764039252
NM_001267550.2(TTN):c.98216C>A (p.Thr32739Asn) rs886042542
NM_001267550.2(TTN):c.98218A>G (p.Lys32740Glu) rs1553510781
NM_001267550.2(TTN):c.98299A>G (p.Arg32767Gly) rs1553510330
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
NM_001267550.2(TTN):c.9839C>A (p.Ser3280Tyr) rs747768723
NM_001267550.2(TTN):c.9841_9842del (p.Thr3281fs) rs2090036916
NM_001267550.2(TTN):c.9849C>G (p.Phe3283Leu) rs780860026
NM_001267550.2(TTN):c.98515C>A (p.Pro32839Thr) rs949917519
NM_001267550.2(TTN):c.98524G>T (p.Ala32842Ser) rs199647622
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys) rs1575354700
NM_001267550.2(TTN):c.98683+3A>C rs1693285723
NM_001267550.2(TTN):c.98683+3A>G rs1693285723
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_001267550.2(TTN):c.9875A>G (p.Gln3292Arg) rs794729586
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp) rs1060500594
NM_001267550.2(TTN):c.99162G>C (p.Lys33054Asn) rs368686031
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly) rs1172364516
NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu) rs762905152
NM_001267550.2(TTN):c.99277A>T (p.Thr33093Ser) rs748796464
NM_001267550.2(TTN):c.9932_9935del (p.Thr3310_Cys3311insTer) rs2090019809
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)
NM_001267550.2(TTN):c.99515C>A (p.Thr33172Asn) rs1060500510
NM_001267550.2(TTN):c.99536T>A (p.Val33179Asp) rs576759867
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg) rs1553504950
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser) rs1553504771
NM_001267550.2(TTN):c.99667C>T (p.Arg33223Cys)
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val) rs1553504488
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys) rs758792040
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99865+3A>T rs1692081223
NM_001267550.2(TTN):c.9988G>T (p.Val3330Phe) rs2090011986
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) rs1022097029
NM_001278293.3(ARL6):c.*275G>A rs886058939
NM_001278293.3(ARL6):c.-27-3C>T
NM_001278293.3(ARL6):c.107A>G (p.Lys36Arg)
NM_001278293.3(ARL6):c.109C>G (p.Leu37Val) rs746549147
NM_001278293.3(ARL6):c.122A>G (p.Asn41Ser) rs1488740103
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn) rs757995078
NM_001278293.3(ARL6):c.140T>C (p.Ile47Thr)
NM_001278293.3(ARL6):c.143T>A (p.Leu48His) rs895572972
NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)
NM_001278293.3(ARL6):c.166G>C (p.Glu56Gln) rs2108031980
NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys) rs751957701
NM_001278293.3(ARL6):c.215G>C (p.Gly72Ala)
NM_001278293.3(ARL6):c.221G>A (p.Gly74Glu)
NM_001278293.3(ARL6):c.235C>T (p.Leu79Phe)
NM_001278293.3(ARL6):c.254+1371G>A
NM_001278293.3(ARL6):c.255A>G (p.Lys85=)
NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp) rs587777805
NM_001278293.3(ARL6):c.296G>A (p.Arg99Lys)
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
NM_001278293.3(ARL6):c.30G>C (p.Leu10Phe) rs963216166
NM_001278293.3(ARL6):c.319GAA[1] (p.Glu108del)
NM_001278293.3(ARL6):c.320A>G (p.Glu107Gly)
NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn) rs200100002
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser) rs2037385151
NM_001278293.3(ARL6):c.349+4T>C rs1214919112
NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro) rs142258123
NM_001278293.3(ARL6):c.386C>T (p.Ala129Val)
NM_001278293.3(ARL6):c.409G>T (p.Ala137Ser)
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del) rs748472414
NM_001278293.3(ARL6):c.43A>G (p.Lys15Glu) rs535835888
NM_001278293.3(ARL6):c.479+4_479+5del rs1285267571
NM_001278293.3(ARL6):c.480-3C>G rs2108084021
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) rs201736026
NM_001278293.3(ARL6):c.4G>C (p.Gly2Arg)
NM_001278293.3(ARL6):c.505G>T (p.Gly169Cys)
NM_001278293.3(ARL6):c.521T>C (p.Val174Ala)
NM_001278293.3(ARL6):c.524A>C (p.Asp175Ala) rs570080567
NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg) rs886058938
NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)
NM_001278293.3(ARL6):c.551_552del (p.Val184fs) rs2038086555
NM_001278293.3(ARL6):c.71G>A (p.Gly24Glu) rs1282560467
NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)
NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)
NM_001283009.2(RTEL1):c.1009G>T (p.Asp337Tyr)
NM_001283009.2(RTEL1):c.1016G>C (p.Ser339Thr)
NM_001283009.2(RTEL1):c.101_102+16dup rs1478655064
NM_001283009.2(RTEL1):c.102+3AG[3] rs1555899112
NM_001283009.2(RTEL1):c.1022T>C (p.Val341Ala)
NM_001283009.2(RTEL1):c.1030C>G (p.Pro344Ala)
NM_001283009.2(RTEL1):c.1030C>T (p.Pro344Ser) rs147789792
NM_001283009.2(RTEL1):c.1037+9C>T
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys) rs769658909
NM_001283009.2(RTEL1):c.1060G>A (p.Glu354Lys)
NM_001283009.2(RTEL1):c.1068G>C (p.Gln356His)
NM_001283009.2(RTEL1):c.1069A>T (p.Ile357Phe) rs2090446909
NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)
NM_001283009.2(RTEL1):c.1071C>G (p.Ile357Met)
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
NM_001283009.2(RTEL1):c.1111C>G (p.Gln371Glu)
NM_001283009.2(RTEL1):c.1123C>T (p.His375Tyr)
NM_001283009.2(RTEL1):c.1133G>A (p.Gly378Glu)
NM_001283009.2(RTEL1):c.1139C>G (p.Ala380Gly)
NM_001283009.2(RTEL1):c.1139C>T (p.Ala380Val) rs770836729
NM_001283009.2(RTEL1):c.1144G>C (p.Val382Leu)
NM_001283009.2(RTEL1):c.1145T>C (p.Val382Ala)
NM_001283009.2(RTEL1):c.1159G>A (p.Ala387Thr) rs2146220003
NM_001283009.2(RTEL1):c.1191+4G>C
NM_001283009.2(RTEL1):c.1192-3C>T rs2145411176
NM_001283009.2(RTEL1):c.1201A>T (p.Ser401Cys)
NM_001283009.2(RTEL1):c.1209C>A (p.Asp403Glu) rs781077567
NM_001283009.2(RTEL1):c.1210C>A (p.Pro404Thr) rs2090573551
NM_001283009.2(RTEL1):c.1213T>G (p.Ser405Ala)
NM_001283009.2(RTEL1):c.1214C>T (p.Ser405Phe)
NM_001283009.2(RTEL1):c.1229G>C (p.Gly410Ala)
NM_001283009.2(RTEL1):c.1246G>A (p.Gly416Arg) rs772510897
NM_001283009.2(RTEL1):c.1249G>A (p.Ala417Thr)
NM_001283009.2(RTEL1):c.1255C>A (p.Gln419Lys)
NM_001283009.2(RTEL1):c.1255C>G (p.Gln419Glu)
NM_001283009.2(RTEL1):c.1259C>T (p.Ser420Phe)
NM_001283009.2(RTEL1):c.1261T>C (p.Tyr421His)
NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)
NM_001283009.2(RTEL1):c.1262A>G (p.Tyr421Cys)
NM_001283009.2(RTEL1):c.1266+6G>A
NM_001283009.2(RTEL1):c.1267G>A (p.Val423Met)
NM_001283009.2(RTEL1):c.1270C>T (p.His424Tyr) rs1568703945
NM_001283009.2(RTEL1):c.1271A>T (p.His424Leu)
NM_001283009.2(RTEL1):c.1276C>T (p.His426Tyr)
NM_001283009.2(RTEL1):c.127C>T (p.Pro43Ser)
NM_001283009.2(RTEL1):c.1282G>T (p.Asp428Tyr)
NM_001283009.2(RTEL1):c.1286C>A (p.Ala429Asp)
NM_001283009.2(RTEL1):c.1286C>G (p.Ala429Gly) rs149428839
NM_001283009.2(RTEL1):c.1292A>T (p.His431Leu)
NM_001283009.2(RTEL1):c.1310G>A (p.Arg437Gln) rs537151019
NM_001283009.2(RTEL1):c.1318G>T (p.Ala440Ser)
NM_001283009.2(RTEL1):c.1319C>G (p.Ala440Gly)
NM_001283009.2(RTEL1):c.1323G>T (p.Trp441Cys) rs2090580676
NM_001283009.2(RTEL1):c.1331C>A (p.Thr444Asn)
NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)
NM_001283009.2(RTEL1):c.1348+3A>G
NM_001283009.2(RTEL1):c.1348+4C>T
NM_001283009.2(RTEL1):c.1348+6G>T rs371358328
NM_001283009.2(RTEL1):c.1352A>G (p.Lys451Arg)
NM_001283009.2(RTEL1):c.1364_1366del (p.Tyr455del) rs1555811251
NM_001283009.2(RTEL1):c.1378C>A (p.Pro460Thr)
NM_001283009.2(RTEL1):c.1395C>A (p.His465Gln)
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.1403T>G (p.Val468Gly) rs2145419818
NM_001283009.2(RTEL1):c.1405C>T (p.Arg469Cys)
NM_001283009.2(RTEL1):c.1406G>T (p.Arg469Leu) rs779627326
NM_001283009.2(RTEL1):c.1410G>T (p.Gln470His)
NM_001283009.2(RTEL1):c.1418G>A (p.Arg473His)
NM_001283009.2(RTEL1):c.1448C>T (p.Ala483Val) rs2090629357
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1469T>C (p.Leu490Pro) rs2145420008
NM_001283009.2(RTEL1):c.146C>T (p.Thr49Met) rs1163455875
NM_001283009.2(RTEL1):c.1474A>T (p.Met492Leu)
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His) rs999309460
NM_001283009.2(RTEL1):c.1481+4C>T
NM_001283009.2(RTEL1):c.1482-10C>T
NM_001283009.2(RTEL1):c.1482-11G>A
NM_001283009.2(RTEL1):c.1482-9C>A rs1601163130
NM_001283009.2(RTEL1):c.1505A>G (p.Asn502Ser) rs2145420924
NM_001283009.2(RTEL1):c.1507C>G (p.Pro503Ala)
NM_001283009.2(RTEL1):c.1519G>A (p.Asp507Asn)
NM_001283009.2(RTEL1):c.1520A>C (p.Asp507Ala)
NM_001283009.2(RTEL1):c.1520A>G (p.Asp507Gly)
NM_001283009.2(RTEL1):c.1522A>G (p.Lys508Glu) rs2090635139
NM_001283009.2(RTEL1):c.1541G>C (p.Gly514Ala)
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile) rs1246091092
NM_001283009.2(RTEL1):c.1549C>T (p.Pro517Ser)
NM_001283009.2(RTEL1):c.1553G>C (p.Arg518Thr)
NM_001283009.2(RTEL1):c.1576A>G (p.Ser526Gly)
NM_001283009.2(RTEL1):c.1582G>A (p.Ala528Thr)
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.1583C>T (p.Ala528Val) rs760398738
NM_001283009.2(RTEL1):c.1601C>A (p.Ser534Tyr)
NM_001283009.2(RTEL1):c.1610G>A (p.Cys537Tyr)
NM_001283009.2(RTEL1):c.1614A>T (p.Leu538Phe)
NM_001283009.2(RTEL1):c.1616C>T (p.Ser539Phe)
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) rs863225130
NM_001283009.2(RTEL1):c.1623G>A (p.Leu541=)
NM_001283009.2(RTEL1):c.1636G>C (p.Gly546Arg)
NM_001283009.2(RTEL1):c.1637G>A (p.Gly546Asp)
NM_001283009.2(RTEL1):c.163A>G (p.Thr55Ala)
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr) rs1408202470
NM_001283009.2(RTEL1):c.1646C>T (p.Ala549Val) rs752494712
NM_001283009.2(RTEL1):c.1649G>A (p.Arg550His) rs765499822
NM_001283009.2(RTEL1):c.1658C>T (p.Pro553Leu)
NM_001283009.2(RTEL1):c.1660T>C (p.Tyr554His)
NM_001283009.2(RTEL1):c.1661A>C (p.Tyr554Ser)
NM_001283009.2(RTEL1):c.1670T>C (p.Leu557Pro) rs1601164500
NM_001283009.2(RTEL1):c.1673T>A (p.Ile558Asn)
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.167C>T (p.Thr56Met) rs768910485
NM_001283009.2(RTEL1):c.1721G>A (p.Arg574Gln)
NM_001283009.2(RTEL1):c.1721G>C (p.Arg574Pro)
NM_001283009.2(RTEL1):c.1722+10_1722+11delinsTT
NM_001283009.2(RTEL1):c.1722+4C>T
NM_001283009.2(RTEL1):c.1722+5G>A
NM_001283009.2(RTEL1):c.1726C>T (p.Arg576Cys)
NM_001283009.2(RTEL1):c.1736C>T (p.Ala579Val) rs2145423231
NM_001283009.2(RTEL1):c.173C>G (p.Ala58Gly)
NM_001283009.2(RTEL1):c.1744A>G (p.Met582Val)
NM_001283009.2(RTEL1):c.1744A>T (p.Met582Leu)
NM_001283009.2(RTEL1):c.1750G>T (p.Ala584Ser)
NM_001283009.2(RTEL1):c.1760C>T (p.Pro587Leu)
NM_001283009.2(RTEL1):c.1796C>A (p.Ser599Tyr)
NM_001283009.2(RTEL1):c.1798G>A (p.Glu600Lys)
NM_001283009.2(RTEL1):c.1800+4G>C rs370973086
NM_001283009.2(RTEL1):c.1800+5G>A
NM_001283009.2(RTEL1):c.1805T>C (p.Ile602Thr)
NM_001283009.2(RTEL1):c.1820C>G (p.Ala607Gly)
NM_001283009.2(RTEL1):c.1831G>A (p.Ala611Thr)
NM_001283009.2(RTEL1):c.1835C>T (p.Pro612Leu)
NM_001283009.2(RTEL1):c.1846G>A (p.Gly616Ser)
NM_001283009.2(RTEL1):c.1858C>G (p.Leu620Val) rs368411912
NM_001283009.2(RTEL1):c.1868G>A (p.Cys623Tyr)
NM_001283009.2(RTEL1):c.1870C>T (p.Arg624Trp)
NM_001283009.2(RTEL1):c.1871G>T (p.Arg624Leu)
NM_001283009.2(RTEL1):c.1874G>A (p.Gly625Asp) rs2145425936
NM_001283009.2(RTEL1):c.1885G>A (p.Glu629Lys)
NM_001283009.2(RTEL1):c.1886A>G (p.Glu629Gly)
NM_001283009.2(RTEL1):c.188_190del (p.Leu63del)
NM_001283009.2(RTEL1):c.1899C>T (p.Phe633=)
NM_001283009.2(RTEL1):c.1909A>T (p.Asn637Tyr)
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.194A>T (p.Asp65Val)
NM_001283009.2(RTEL1):c.1952G>A (p.Arg651His) rs773159241
NM_001283009.2(RTEL1):c.1954A>C (p.Met652Leu) rs766133842
NM_001283009.2(RTEL1):c.1955T>A (p.Met652Lys)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1964G>A (p.Arg655Gln) rs753884575
NM_001283009.2(RTEL1):c.196G>A (p.Gly66Ser) rs755641587
NM_001283009.2(RTEL1):c.197G>T (p.Gly66Val) rs777459653
NM_001283009.2(RTEL1):c.1982A>G (p.Gln661Arg) rs758832096
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.1998G>T (p.Met666Ile)
NM_001283009.2(RTEL1):c.2003G>A (p.Gly668Asp)
NM_001283009.2(RTEL1):c.2004C>T (p.Gly668=)
NM_001283009.2(RTEL1):c.2006A>G (p.Gln669Arg)
NM_001283009.2(RTEL1):c.2011G>A (p.Gly671Arg)
NM_001283009.2(RTEL1):c.2017G>A (p.Gly673Arg)
NM_001283009.2(RTEL1):c.2025+5G>A rs762945317
NM_001283009.2(RTEL1):c.2027T>C (p.Phe676Ser)
NM_001283009.2(RTEL1):c.2028C>T (p.Phe676=)
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg) rs1229240096
NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2050C>T (p.Arg684Trp)
NM_001283009.2(RTEL1):c.205G>A (p.Ala69Thr) rs768524684
NM_001283009.2(RTEL1):c.2060C>T (p.Ala687Val)
NM_001283009.2(RTEL1):c.2083A>G (p.Ile695Val) rs2090684109
NM_001283009.2(RTEL1):c.2087G>A (p.Gly696Glu)
NM_001283009.2(RTEL1):c.208C>G (p.Arg70Gly)
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.209G>T (p.Arg70Leu)
NM_001283009.2(RTEL1):c.2137C>G (p.His713Asp) rs2145429206
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142G>A (p.Arg714=) rs2145430556
NM_001283009.2(RTEL1):c.2142G>C (p.Arg714Ser)
NM_001283009.2(RTEL1):c.2159C>T (p.Ala720Val) rs2145430644
NM_001283009.2(RTEL1):c.215T>C (p.Ile72Thr)
NM_001283009.2(RTEL1):c.2164G>A (p.Ala722Thr)
NM_001283009.2(RTEL1):c.2164G>T (p.Ala722Ser) rs2090697243
NM_001283009.2(RTEL1):c.2169A>C (p.Gln723His)
NM_001283009.2(RTEL1):c.217G>A (p.Ala73Thr)
NM_001283009.2(RTEL1):c.2182G>A (p.Val728Met)
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys) rs1555811919
NM_001283009.2(RTEL1):c.2186G>A (p.Arg729His)
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile) rs142039934
NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
NM_001283009.2(RTEL1):c.2211C>G (p.Asn737Lys)
NM_001283009.2(RTEL1):c.2222_2223delinsGT (p.Val741Gly)
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2233G>C (p.Val745Leu)
NM_001283009.2(RTEL1):c.2237C>T (p.Ala746Val)
NM_001283009.2(RTEL1):c.2248C>T (p.Arg750Cys) rs2090699912
NM_001283009.2(RTEL1):c.2249G>T (p.Arg750Leu) rs758667681
NM_001283009.2(RTEL1):c.2257G>A (p.Glu753Lys)
NM_001283009.2(RTEL1):c.2268G>A (p.Met756Ile)
NM_001283009.2(RTEL1):c.2269C>A (p.Pro757Thr) rs1348818075
NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala) rs1601171438
NM_001283009.2(RTEL1):c.2276C>T (p.Pro759Leu)
NM_001283009.2(RTEL1):c.2281C>T (p.Pro761Ser)
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly) rs750251447
NM_001283009.2(RTEL1):c.2285G>A (p.Arg762Gln)
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile) rs767774517
NM_001283009.2(RTEL1):c.2297C>T (p.Pro766Leu)
NM_001283009.2(RTEL1):c.2305C>T (p.Arg769Cys)
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del) rs1555812033
NM_001283009.2(RTEL1):c.2323A>G (p.Ser775Gly)
NM_001283009.2(RTEL1):c.2326G>A (p.Glu776Lys)
NM_001283009.2(RTEL1):c.2326G>C (p.Glu776Gln) rs746677388
NM_001283009.2(RTEL1):c.2334G>C (p.Lys778Asn)
NM_001283009.2(RTEL1):c.2345C>T (p.Pro782Leu) rs764157833
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2354C>G (p.Ser785Cys)
NM_001283009.2(RTEL1):c.2366C>G (p.Ala789Gly) rs2090707111
NM_001283009.2(RTEL1):c.2369A>G (p.Lys790Arg)
NM_001283009.2(RTEL1):c.2371A>T (p.Ser791Cys)
NM_001283009.2(RTEL1):c.2377G>A (p.Asp793Asn)
NM_001283009.2(RTEL1):c.2377G>T (p.Asp793Tyr)
NM_001283009.2(RTEL1):c.2384A>G (p.His795Arg) rs2145432169
NM_001283009.2(RTEL1):c.2386G>C (p.Val796Leu)
NM_001283009.2(RTEL1):c.2387T>A (p.Val796Asp)
NM_001283009.2(RTEL1):c.2393G>C (p.Ser798Thr)
NM_001283009.2(RTEL1):c.2395C>G (p.Leu799Val) rs1601171872
NM_001283009.2(RTEL1):c.2405G>A (p.Arg802Lys)
NM_001283009.2(RTEL1):c.2410T>C (p.Ser804Pro) rs2145432315
NM_001283009.2(RTEL1):c.2413+4C>G
NM_001283009.2(RTEL1):c.2413+5G>C rs750836127
NM_001283009.2(RTEL1):c.2417C>T (p.Ser806Leu)
NM_001283009.2(RTEL1):c.2428G>C (p.Gly810Arg)
NM_001283009.2(RTEL1):c.2431G>A (p.Asp811Asn)
NM_001283009.2(RTEL1):c.2431G>T (p.Asp811Tyr)
NM_001283009.2(RTEL1):c.2434C>A (p.Pro812Thr) rs1601173488
NM_001283009.2(RTEL1):c.2435C>G (p.Pro812Arg)
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
NM_001283009.2(RTEL1):c.2441G>C (p.Ser814Thr)
NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)
NM_001283009.2(RTEL1):c.2446C>G (p.Leu816Val) rs2145434398
NM_001283009.2(RTEL1):c.2449T>C (p.Cys817Arg)
NM_001283009.2(RTEL1):c.2450G>A (p.Cys817Tyr)
NM_001283009.2(RTEL1):c.2458_2459insTCA (p.Tyr820delinsPheAsn) rs1254325984
NM_001283009.2(RTEL1):c.2469G>T (p.Glu823Asp)
NM_001283009.2(RTEL1):c.2471C>A (p.Pro824Gln) rs769874593
NM_001283009.2(RTEL1):c.2476C>T (p.Pro826Ser)
NM_001283009.2(RTEL1):c.2480C>T (p.Ala827Val)
NM_001283009.2(RTEL1):c.2482C>T (p.Arg828Trp)
NM_001283009.2(RTEL1):c.2509G>T (p.Ala837Ser)
NM_001283009.2(RTEL1):c.2510C>T (p.Ala837Val)
NM_001283009.2(RTEL1):c.251G>A (p.Arg84Gln)
NM_001283009.2(RTEL1):c.251G>C (p.Arg84Pro)
NM_001283009.2(RTEL1):c.2524G>A (p.Glu842Lys)
NM_001283009.2(RTEL1):c.2526A>C (p.Glu842Asp) rs2145434771
NM_001283009.2(RTEL1):c.2528A>G (p.Gln843Arg) rs2090724190
NM_001283009.2(RTEL1):c.253G>A (p.Ala85Thr)
NM_001283009.2(RTEL1):c.2540G>A (p.Ser847Asn) rs545991923
NM_001283009.2(RTEL1):c.2544_2545delinsCC (p.Gly849Arg) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545delinsCT (p.Gly849Cys) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545inv (p.Gly849Ser)
NM_001283009.2(RTEL1):c.2556+5A>G
NM_001283009.2(RTEL1):c.2557-10T>G
NM_001283009.2(RTEL1):c.2557-19_2557-6del
NM_001283009.2(RTEL1):c.2557-5_2557-3del rs1279921309
NM_001283009.2(RTEL1):c.2560C>G (p.His854Asp) rs780005986
NM_001283009.2(RTEL1):c.2567G>A (p.Cys856Tyr)
NM_001283009.2(RTEL1):c.2570C>T (p.Ser857Phe)
NM_001283009.2(RTEL1):c.2576T>C (p.Leu859Pro)
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg) rs765909720
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2591A>C (p.Glu864Ala) rs2145439184
NM_001283009.2(RTEL1):c.259T>C (p.Ser87Pro)
NM_001283009.2(RTEL1):c.2600C>G (p.Pro867Arg)
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2605GAA[1] (p.Glu870del) rs1555812456
NM_001283009.2(RTEL1):c.2615G>A (p.Arg872Gln)
NM_001283009.2(RTEL1):c.2616AGG[1] (p.Gly874del)
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2618G>A (p.Gly873Glu)
NM_001283009.2(RTEL1):c.2622G>T (p.Gly874=)
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001283009.2(RTEL1):c.2634C>G (p.Ile878Met)
NM_001283009.2(RTEL1):c.2636G>A (p.Arg879Gln) rs770539835
NM_001283009.2(RTEL1):c.2636G>C (p.Arg879Pro) rs770539835
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe) rs758172246
NM_001283009.2(RTEL1):c.2645G>A (p.Ser882Asn)
NM_001283009.2(RTEL1):c.2651C>G (p.Pro884Arg)
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln) rs2090784564
NM_001283009.2(RTEL1):c.2654A>G (p.Glu885Gly)
NM_001283009.2(RTEL1):c.2658G>T (p.Glu886Asp)
NM_001283009.2(RTEL1):c.2659C>T (p.Pro887Ser) rs1399014030
NM_001283009.2(RTEL1):c.265T>C (p.Trp89Arg) rs2090019014
NM_001283009.2(RTEL1):c.2660C>T (p.Pro887Leu) rs1568717000
NM_001283009.2(RTEL1):c.2662G>A (p.Val888Met) rs200505378
NM_001283009.2(RTEL1):c.2663T>G (p.Val888Gly)
NM_001283009.2(RTEL1):c.2665G>C (p.Ala889Pro)
NM_001283009.2(RTEL1):c.2682C>G (p.Asp894Glu) rs535831345
NM_001283009.2(RTEL1):c.2683A>G (p.Arg895Gly) rs2090785759
NM_001283009.2(RTEL1):c.2683A>T (p.Arg895Trp)
NM_001283009.2(RTEL1):c.2684G>A (p.Arg895Lys) rs150564915
NM_001283009.2(RTEL1):c.2684G>C (p.Arg895Thr)
NM_001283009.2(RTEL1):c.2686G>A (p.Ala896Thr)
NM_001283009.2(RTEL1):c.2690A>G (p.Lys897Arg)
NM_001283009.2(RTEL1):c.2698A>C (p.Met900Leu) rs749041304
NM_001283009.2(RTEL1):c.2699T>G (p.Met900Arg)
NM_001283009.2(RTEL1):c.2713C>G (p.Gln905Glu) rs768610590
NM_001283009.2(RTEL1):c.2714A>C (p.Gln905Pro) rs2090786703
NM_001283009.2(RTEL1):c.2715G>C (p.Gln905His) rs1278177922
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
NM_001283009.2(RTEL1):c.271A>G (p.Asn91Asp)
NM_001283009.2(RTEL1):c.2722A>G (p.Ser908Gly) rs2090787000
NM_001283009.2(RTEL1):c.2726A>C (p.Gln909Pro)
NM_001283009.2(RTEL1):c.2729C>T (p.Ala910Val)
NM_001283009.2(RTEL1):c.272A>G (p.Asn91Ser) rs941773443
NM_001283009.2(RTEL1):c.272A>T (p.Asn91Ile)
NM_001283009.2(RTEL1):c.2732A>G (p.Asn911Ser)
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys) rs372027131
NM_001283009.2(RTEL1):c.2734T>C (p.Phe912Leu)
NM_001283009.2(RTEL1):c.2740A>G (p.Thr914Ala)
NM_001283009.2(RTEL1):c.2745C>G (p.Phe915Leu) rs1376717154
NM_001283009.2(RTEL1):c.2746A>T (p.Thr916Ser)
NM_001283009.2(RTEL1):c.2747C>G (p.Thr916Ser)
NM_001283009.2(RTEL1):c.274G>A (p.Ala92Thr) rs1404412328
NM_001283009.2(RTEL1):c.2755C>G (p.Leu919Val)
NM_001283009.2(RTEL1):c.2759A>G (p.Gln920Arg) rs2090788449
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.275CTG[7] (p.Ala95_Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.2762A>G (p.Asp921Gly)
NM_001283009.2(RTEL1):c.2767A>G (p.Lys923Glu)
NM_001283009.2(RTEL1):c.2771G>A (p.Gly924Asp)
NM_001283009.2(RTEL1):c.2774C>A (p.Ser925Tyr)
NM_001283009.2(RTEL1):c.2774C>G (p.Ser925Cys) rs770018942
NM_001283009.2(RTEL1):c.2774C>T (p.Ser925Phe)
NM_001283009.2(RTEL1):c.2779G>A (p.Asp927Asn)
NM_001283009.2(RTEL1):c.277G>A (p.Ala93Thr) rs2146149148
NM_001283009.2(RTEL1):c.2784_2785delinsTC (p.Ala929Pro)
NM_001283009.2(RTEL1):c.2788G>C (p.Ala930Pro) rs371721039
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr) rs781430438
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr) rs1263651818
NM_001283009.2(RTEL1):c.2801G>C (p.Cys934Ser) rs1263651818
NM_001283009.2(RTEL1):c.2806G>A (p.Gly936Ser)
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr) rs371690600
NM_001283009.2(RTEL1):c.2810C>G (p.Pro937Arg)
NM_001283009.2(RTEL1):c.2812C>G (p.Leu938Val)
NM_001283009.2(RTEL1):c.2813T>C (p.Leu938Pro)
NM_001283009.2(RTEL1):c.2821G>A (p.Glu941Lys)
NM_001283009.2(RTEL1):c.2822A>C (p.Glu941Ala)
NM_001283009.2(RTEL1):c.2825A>G (p.Asp942Gly)
NM_001283009.2(RTEL1):c.2827C>T (p.Pro943Ser)
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg) rs142969505
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
NM_001283009.2(RTEL1):c.2830A>G (p.Lys944Glu)
NM_001283009.2(RTEL1):c.2831A>G (p.Lys944Arg)
NM_001283009.2(RTEL1):c.2832G>C (p.Lys944Asn)
NM_001283009.2(RTEL1):c.2833A>G (p.Lys945Glu)
NM_001283009.2(RTEL1):c.2836C>T (p.His946Tyr) rs1375502785
NM_001283009.2(RTEL1):c.2839A>C (p.Asn947His)
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser) rs761268803
NM_001283009.2(RTEL1):c.2849A>G (p.Gln950Arg) rs2145447147
NM_001283009.2(RTEL1):c.2851+10C>T
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2851+5C>T
NM_001283009.2(RTEL1):c.2851+6C>G rs1601183088
NM_001283009.2(RTEL1):c.2852-3C>T
NM_001283009.2(RTEL1):c.2852G>C (p.Gly951Ala) rs925928624
NM_001283009.2(RTEL1):c.2854T>C (p.Phe952Leu) rs1601184120
NM_001283009.2(RTEL1):c.2857T>C (p.Tyr953His)
NM_001283009.2(RTEL1):c.2860C>A (p.Gln954Lys) rs1159070520
NM_001283009.2(RTEL1):c.2860C>G (p.Gln954Glu)
NM_001283009.2(RTEL1):c.2861A>G (p.Gln954Arg)
NM_001283009.2(RTEL1):c.2870G>C (p.Arg957Pro)
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr) rs1334634497
NM_001283009.2(RTEL1):c.287C>G (p.Ala96Gly)
NM_001283009.2(RTEL1):c.2882A>G (p.Lys961Arg) rs2145448755
NM_001283009.2(RTEL1):c.2884C>A (p.Gln962Lys)
NM_001283009.2(RTEL1):c.2884C>G (p.Gln962Glu)
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2895G>C (p.Glu965Asp) rs745327960
NM_001283009.2(RTEL1):c.2899G>A (p.Val967Ile)
NM_001283009.2(RTEL1):c.2905A>G (p.Ile969Val)
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg) rs2090804992
NM_001283009.2(RTEL1):c.2909A>T (p.Gln970Leu) rs2090804992
NM_001283009.2(RTEL1):c.2910G>C (p.Gln970His)
NM_001283009.2(RTEL1):c.2915C>A (p.Thr972Lys) rs199834369
NM_001283009.2(RTEL1):c.2917G>A (p.Gly973Arg)
NM_001283009.2(RTEL1):c.2918G>A (p.Gly973Glu) rs2145448980
NM_001283009.2(RTEL1):c.2921G>C (p.Arg974Pro)
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala) rs757725471
NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp) rs2145449091
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys) rs750109305
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe) rs750109305
NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)
NM_001283009.2(RTEL1):c.2939C>T (p.Pro980Leu) rs1340326956
NM_001283009.2(RTEL1):c.2941G>A (p.Glu981Lys)
NM_001283009.2(RTEL1):c.2945A>G (p.His982Arg)
NM_001283009.2(RTEL1):c.2947A>G (p.Ser983Gly)
NM_001283009.2(RTEL1):c.2948G>A (p.Ser983Asn)
NM_001283009.2(RTEL1):c.2948G>C (p.Ser983Thr)
NM_001283009.2(RTEL1):c.2950A>C (p.Ile984Leu)
NM_001283009.2(RTEL1):c.2953C>A (p.Pro985Thr) rs772031890
NM_001283009.2(RTEL1):c.2954C>A (p.Pro985His) rs1462195263
NM_001283009.2(RTEL1):c.2957G>T (p.Arg986Leu)
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
NM_001283009.2(RTEL1):c.2966G>C (p.Arg989Pro)
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr) rs751124641
NM_001283009.2(RTEL1):c.2969C>T (p.Ala990Val) rs370171864
NM_001283009.2(RTEL1):c.2971_2972delinsAG (p.Gln991Arg)
NM_001283009.2(RTEL1):c.2973G>C (p.Gln991His)
NM_001283009.2(RTEL1):c.2974C>T (p.Pro992Ser)
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg) rs143967591
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.2981T>C (p.Leu994Pro) rs1453207384
NM_001283009.2(RTEL1):c.2983G>A (p.Asp995Asn) rs202020298
NM_001283009.2(RTEL1):c.2983G>C (p.Asp995His)
NM_001283009.2(RTEL1):c.2983G>T (p.Asp995Tyr)
NM_001283009.2(RTEL1):c.2985C>A (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2987C>G (p.Pro996Arg) rs373210484
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu) rs373210484
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser) rs1046295138
NM_001283009.2(RTEL1):c.2991T>C (p.Thr997=) rs2145449639
NM_001283009.2(RTEL1):c.2992+13C>A
NM_001283009.2(RTEL1):c.2992+16G>A
NM_001283009.2(RTEL1):c.2992+17G>T
NM_001283009.2(RTEL1):c.2992+17del rs2090812191
NM_001283009.2(RTEL1):c.2992+4A>C
NM_001283009.2(RTEL1):c.2992+6T>C
NM_001283009.2(RTEL1):c.2992+8G>A rs1236751268
NM_001283009.2(RTEL1):c.2992+8G>C
NM_001283009.2(RTEL1):c.2993-3C>T
NM_001283009.2(RTEL1):c.2995A>G (p.Arg999Gly)
NM_001283009.2(RTEL1):c.2996G>A (p.Arg999Lys)
NM_001283009.2(RTEL1):c.3005C>A (p.Pro1002Gln)
NM_001283009.2(RTEL1):c.3005C>G (p.Pro1002Arg) rs767735975
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala) rs2090912360
NM_001283009.2(RTEL1):c.301+3G>A
NM_001283009.2(RTEL1):c.301+5C>T
NM_001283009.2(RTEL1):c.3010C>G (p.Pro1004Ala)
NM_001283009.2(RTEL1):c.3014A>G (p.Lys1005Arg)
NM_001283009.2(RTEL1):c.302-6G>C
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile) rs776712596
NM_001283009.2(RTEL1):c.3022G>C (p.Val1008Leu)
NM_001283009.2(RTEL1):c.3028A>C (p.Thr1010Pro) rs2145470968
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met) rs750539539
NM_001283009.2(RTEL1):c.3031G>A (p.Ala1011Thr)
NM_001283009.2(RTEL1):c.3034G>T (p.Ala1012Ser)
NM_001283009.2(RTEL1):c.3035C>A (p.Ala1012Glu)
NM_001283009.2(RTEL1):c.3044A>G (p.Gln1015Arg)
NM_001283009.2(RTEL1):c.3045G>C (p.Gln1015His) rs2145471144
NM_001283009.2(RTEL1):c.3049G>C (p.Asp1017His) rs61736617
NM_001283009.2(RTEL1):c.304T>C (p.Cys102Arg)
NM_001283009.2(RTEL1):c.3055C>G (p.Gln1019Glu) rs1435090971
NM_001283009.2(RTEL1):c.3058G>C (p.Glu1020Gln)
NM_001283009.2(RTEL1):c.3059A>G (p.Glu1020Gly) rs2090914407
NM_001283009.2(RTEL1):c.3060G>C (p.Glu1020Asp)
NM_001283009.2(RTEL1):c.3062A>T (p.His1021Leu) rs1345368614
NM_001283009.2(RTEL1):c.3069C>G (p.Asn1023Lys) rs773448494
NM_001283009.2(RTEL1):c.3077G>T (p.Arg1026Met) rs1448735633
NM_001283009.2(RTEL1):c.3079C>T (p.Pro1027Ser) rs2090915113
NM_001283009.2(RTEL1):c.307T>C (p.Tyr103His)
NM_001283009.2(RTEL1):c.3083A>C (p.His1028Pro)
NM_001283009.2(RTEL1):c.3089C>G (p.Ser1030Trp) rs756579704
NM_001283009.2(RTEL1):c.3091C>T (p.Pro1031Ser) rs912272913
NM_001283009.2(RTEL1):c.3092C>T (p.Pro1031Leu)
NM_001283009.2(RTEL1):c.3100C>T (p.Pro1034Ser)
NM_001283009.2(RTEL1):c.3104C>G (p.Pro1035Arg)
NM_001283009.2(RTEL1):c.3109+14G>T
NM_001283009.2(RTEL1):c.3109+5C>G
NM_001283009.2(RTEL1):c.3110-10C>G rs2090927100
NM_001283009.2(RTEL1):c.3110G>A (p.Gly1037Glu)
NM_001283009.2(RTEL1):c.3114C>A (p.Asp1038Glu) rs746139882
NM_001283009.2(RTEL1):c.3116C>G (p.Pro1039Arg)
NM_001283009.2(RTEL1):c.3118G>T (p.Gly1040Cys)
NM_001283009.2(RTEL1):c.3119G>T (p.Gly1040Val)
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys) rs367809459
NM_001283009.2(RTEL1):c.3131A>G (p.Gln1044Arg) rs1350870028
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del) rs1555814207
NM_001283009.2(RTEL1):c.3155C>G (p.Ala1052Gly) rs1479396091
NM_001283009.2(RTEL1):c.316A>T (p.Ile106Phe) rs2090027158
NM_001283009.2(RTEL1):c.3171G>T (p.Gln1057His)
NM_001283009.2(RTEL1):c.3178G>T (p.Val1060Leu)
NM_001283009.2(RTEL1):c.3182G>A (p.Ser1061Asn) rs1167219600
NM_001283009.2(RTEL1):c.3185C>T (p.Ala1062Val)
NM_001283009.2(RTEL1):c.3186C>T (p.Ala1062=)
NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)
NM_001283009.2(RTEL1):c.3217T>G (p.Ser1073Ala)
NM_001283009.2(RTEL1):c.3223G>T (p.Gly1075Cys) rs1431515751
NM_001283009.2(RTEL1):c.3235C>G (p.Leu1079Val)
NM_001283009.2(RTEL1):c.3238T>G (p.Leu1080Val)
NM_001283009.2(RTEL1):c.3245C>T (p.Ala1082Val)
NM_001283009.2(RTEL1):c.3259A>G (p.Lys1087Glu)
NM_001283009.2(RTEL1):c.3261G>T (p.Lys1087Asn)
NM_001283009.2(RTEL1):c.3262C>G (p.Gln1088Glu) rs918462634
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3271G>A (p.Asp1091Asn)
NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)
NM_001283009.2(RTEL1):c.3279C>G (p.Asp1093Glu)
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn) rs778086975
NM_001283009.2(RTEL1):c.3283G>A (p.Val1095Met) rs757602436
NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)
NM_001283009.2(RTEL1):c.3292G>A (p.Val1098Met)
NM_001283009.2(RTEL1):c.3296T>G (p.Leu1099Trp) rs199998697
NM_001283009.2(RTEL1):c.3304C>G (p.Leu1102Val)
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
NM_001283009.2(RTEL1):c.3311C>G (p.Thr1104Ser)
NM_001283009.2(RTEL1):c.3313G>A (p.Ala1105Thr) rs752980702
NM_001283009.2(RTEL1):c.3314C>A (p.Ala1105Glu)
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly) rs1193975279
NM_001283009.2(RTEL1):c.3320C>G (p.Pro1107Arg) rs115264605
NM_001283009.2(RTEL1):c.3320C>T (p.Pro1107Leu)
NM_001283009.2(RTEL1):c.3322G>A (p.Glu1108Lys) rs945952564
NM_001283009.2(RTEL1):c.3326A>C (p.Asp1109Ala)
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val) rs754275053
NM_001283009.2(RTEL1):c.3329T>C (p.Phe1110Ser) rs148621466
NM_001283009.2(RTEL1):c.3331C>T (p.Pro1111Ser)
NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)
NM_001283009.2(RTEL1):c.3343+15C>T
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.3343A>G (p.Arg1115Gly)
NM_001283009.2(RTEL1):c.3352A>G (p.Met1118Val) rs2090940417
NM_001283009.2(RTEL1):c.3358G>A (p.Val1120Met) rs1232203927
NM_001283009.2(RTEL1):c.3358G>C (p.Val1120Leu)
NM_001283009.2(RTEL1):c.335C>T (p.Ala112Val)
NM_001283009.2(RTEL1):c.3364C>T (p.Pro1122Ser)
NM_001283009.2(RTEL1):c.3365C>T (p.Pro1122Leu)
NM_001283009.2(RTEL1):c.3374A>G (p.Lys1125Arg)
NM_001283009.2(RTEL1):c.3376C>G (p.Gln1126Glu) rs778734749
NM_001283009.2(RTEL1):c.3378G>C (p.Gln1126His)
NM_001283009.2(RTEL1):c.3379C>A (p.Arg1127Ser) rs745614952
NM_001283009.2(RTEL1):c.3382T>C (p.Phe1128Leu) rs2090941270
NM_001283009.2(RTEL1):c.3392C>A (p.Thr1131Lys)
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg) rs372852392
NM_001283009.2(RTEL1):c.3394T>C (p.Cys1132Arg) rs2145477538
NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp) rs6062495
NM_001283009.2(RTEL1):c.3413G>A (p.Arg1138Gln)
NM_001283009.2(RTEL1):c.3413G>C (p.Arg1138Pro)
NM_001283009.2(RTEL1):c.3413G>T (p.Arg1138Leu) rs756727783
NM_001283009.2(RTEL1):c.3416C>T (p.Pro1139Leu)
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys) rs200622914
NM_001283009.2(RTEL1):c.3425G>T (p.Gly1142Val)
NM_001283009.2(RTEL1):c.3426C>T (p.Gly1142=)
NM_001283009.2(RTEL1):c.3433C>T (p.Pro1145Ser)
NM_001283009.2(RTEL1):c.3440G>A (p.Gly1147Glu)
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His) rs116773320
NM_001283009.2(RTEL1):c.3443C>G (p.Pro1148Arg)
NM_001283009.2(RTEL1):c.3446A>C (p.Gln1149Pro)
NM_001283009.2(RTEL1):c.3446A>G (p.Gln1149Arg)
NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)
NM_001283009.2(RTEL1):c.3448GAG[1] (p.Glu1151del) rs777014655
NM_001283009.2(RTEL1):c.3455G>A (p.Arg1152Lys)
NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)
NM_001283009.2(RTEL1):c.3460G>C (p.Ala1154Pro)
NM_001283009.2(RTEL1):c.3461C>T (p.Ala1154Val)
NM_001283009.2(RTEL1):c.3463G>T (p.Val1155Leu)
NM_001283009.2(RTEL1):c.3472G>A (p.Val1158Met)
NM_001283009.2(RTEL1):c.347A>G (p.His116Arg) rs746010778
NM_001283009.2(RTEL1):c.3487G>A (p.Ala1163Thr)
NM_001283009.2(RTEL1):c.3490C>G (p.Pro1164Ala)
NM_001283009.2(RTEL1):c.3491C>T (p.Pro1164Leu)
NM_001283009.2(RTEL1):c.3499+6G>C
NM_001283009.2(RTEL1):c.3500-10_3500-9del
NM_001283009.2(RTEL1):c.3500-3C>T
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
NM_001283009.2(RTEL1):c.3509G>T (p.Arg1170Leu)
NM_001283009.2(RTEL1):c.3514G>A (p.Glu1172Lys)
NM_001283009.2(RTEL1):c.3515A>C (p.Glu1172Ala) rs2145479213
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del) rs1258943409
NM_001283009.2(RTEL1):c.3519G>C (p.Lys1173Asn)
NM_001283009.2(RTEL1):c.3523_3531dup (p.Gly1175_Thr1177dup) rs2090951149
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3534G>C (p.Gln1178His) rs781484810
NM_001283009.2(RTEL1):c.3545C>T (p.Ser1182Leu)
NM_001283009.2(RTEL1):c.3547T>A (p.Ser1183Thr)
NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)
NM_001283009.2(RTEL1):c.3553C>G (p.Leu1185Val) rs1439323475
NM_001283009.2(RTEL1):c.3553C>T (p.Leu1185Phe) rs1439323475
NM_001283009.2(RTEL1):c.3556A>G (p.Arg1186Gly)
NM_001283009.2(RTEL1):c.3557G>A (p.Arg1186Lys) rs2090952685
NM_001283009.2(RTEL1):c.3559C>G (p.Gln1187Glu)
NM_001283009.2(RTEL1):c.3565C>T (p.Pro1189Ser)
NM_001283009.2(RTEL1):c.3566C>T (p.Pro1189Leu)
NM_001283009.2(RTEL1):c.3569C>T (p.Ala1190Val)
NM_001283009.2(RTEL1):c.3571G>A (p.Gly1191Arg) rs2090953166
NM_001283009.2(RTEL1):c.3571G>C (p.Gly1191Arg)
NM_001283009.2(RTEL1):c.3572G>A (p.Gly1191Glu)
NM_001283009.2(RTEL1):c.3589G>C (p.Gly1197Arg)
NM_001283009.2(RTEL1):c.3595G>A (p.Asp1199Asn) rs2145479801
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn) rs2145479866
NM_001283009.2(RTEL1):c.3608G>C (p.Ser1203Thr)
NM_001283009.2(RTEL1):c.3608G>T (p.Ser1203Ile) rs2145479866
NM_001283009.2(RTEL1):c.3614C>T (p.Ser1205Phe)
NM_001283009.2(RTEL1):c.3623C>T (p.Pro1208Leu)
NM_001283009.2(RTEL1):c.3629A>C (p.His1210Pro) rs1601199974
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg) rs1601199974
NM_001283009.2(RTEL1):c.3630C>A (p.His1210Gln)
NM_001283009.2(RTEL1):c.3631G>A (p.Gly1211Arg) rs1354993689
NM_001283009.2(RTEL1):c.3653G>A (p.Gly1218Asp)
NM_001283009.2(RTEL1):c.3658C>T (p.Pro1220Ser)
NM_001283009.2(RTEL1):c.3665G>A (p.Gly1222Glu)
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser) rs371373011
NM_001283009.2(RTEL1):c.3684G>C (p.Gln1228His)
NM_001283009.2(RTEL1):c.3697G>A (p.Ala1233Thr) rs2090957083
NM_001283009.2(RTEL1):c.3698C>G (p.Ala1233Gly)
NM_001283009.2(RTEL1):c.369C>G (p.Ile123Met) rs2090027882
NM_001283009.2(RTEL1):c.3703G>C (p.Gly1235Arg)
NM_001283009.2(RTEL1):c.3707G>A (p.Gly1236Glu)
NM_001283009.2(RTEL1):c.3709C>T (p.Pro1237Ser)
NM_001283009.2(RTEL1):c.370A>G (p.Asn124Asp) rs1569080038
NM_001283009.2(RTEL1):c.3716C>T (p.Ser1239Leu)
NM_001283009.2(RTEL1):c.3718G>C (p.Ala1240Pro)
NM_001283009.2(RTEL1):c.3725G>A (p.Cys1242Tyr)
NM_001283009.2(RTEL1):c.3725G>T (p.Cys1242Phe) rs765990015
NM_001283009.2(RTEL1):c.3733C>G (p.Gln1245Glu) rs1555814729
NM_001283009.2(RTEL1):c.3734A>G (p.Gln1245Arg) rs2090958582
NM_001283009.2(RTEL1):c.3736G>A (p.Gly1246Ser) rs2145480651
NM_001283009.2(RTEL1):c.3754GTG[1] (p.Val1253del)
NM_001283009.2(RTEL1):c.3766C>A (p.Gln1256Lys)
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu) rs376313219
NM_001283009.2(RTEL1):c.3807G>A (p.Trp1269Ter)
NM_001283009.2(RTEL1):c.3807G>C (p.Trp1269Cys) rs2145481109
NM_001283009.2(RTEL1):c.3817C>T (p.Leu1273Phe)
NM_001283009.2(RTEL1):c.3821A>G (p.Gln1274Arg)
NM_001283009.2(RTEL1):c.3822+1G>A
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser) rs2090966039
NM_001283009.2(RTEL1):c.3824C>G (p.Ala1275Gly) rs771296244
NM_001283009.2(RTEL1):c.3831G>T (p.Arg1277Ser)
NM_001283009.2(RTEL1):c.3832A>G (p.Met1278Val) rs1555814876
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile) rs1428387350
NM_001283009.2(RTEL1):c.3841G>A (p.Ala1281Thr)
NM_001283009.2(RTEL1):c.3842C>T (p.Ala1281Val) rs1601201761
NM_001283009.2(RTEL1):c.3847C>T (p.His1283Tyr) rs1555814886
NM_001283009.2(RTEL1):c.3857C>T (p.Ser1286Phe)
NM_001283009.2(RTEL1):c.3863A>G (p.Lys1288Arg)
NM_001283009.2(RTEL1):c.386CCT[1] (p.Ser130del) rs1555899638
NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)
NM_001283009.2(RTEL1):c.3877C>G (p.Gln1293Glu)
NM_001283009.2(RTEL1):c.3878del (p.Gln1293fs)
NM_001283009.2(RTEL1):c.3889C>T (p.Pro1297Ser) rs2090967528
NM_001283009.2(RTEL1):c.389C>A (p.Ser130Tyr)
NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp) rs769533935
NM_001283009.2(RTEL1):c.395+4G>T rs2146151011
NM_001283009.2(RTEL1):c.396-20A>G rs1601086623
NM_001283009.2(RTEL1):c.396-50T>C rs1555899781
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.396-8C>G
NM_001283009.2(RTEL1):c.396G>C (p.Arg132=)
NM_001283009.2(RTEL1):c.397C>T (p.Pro133Ser) rs942504504
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.424G>A (p.Glu142Lys)
NM_001283009.2(RTEL1):c.442C>T (p.Pro148Ser)
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu) rs1296968885
NM_001283009.2(RTEL1):c.460G>C (p.Glu154Gln) rs2146154075
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
NM_001283009.2(RTEL1):c.467A>G (p.Asn156Ser) rs774724599
NM_001283009.2(RTEL1):c.477+6C>T rs1321816687
NM_001283009.2(RTEL1):c.47A>G (p.Gln16Arg)
NM_001283009.2(RTEL1):c.480C>G (p.Ile160Met)
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His) rs377176432
NM_001283009.2(RTEL1):c.491G>T (p.Arg164Leu)
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
NM_001283009.2(RTEL1):c.500T>G (p.Val167Gly) rs1601087815
NM_001283009.2(RTEL1):c.502G>A (p.Ala168Thr)
NM_001283009.2(RTEL1):c.503C>T (p.Ala168Val) rs2090048504
NM_001283009.2(RTEL1):c.508C>T (p.Arg170Cys) rs866785110
NM_001283009.2(RTEL1):c.522C>A (p.Phe174Leu)
NM_001283009.2(RTEL1):c.526A>G (p.Asn176Asp) rs2146155790
NM_001283009.2(RTEL1):c.539-16T>A rs1460115448
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
NM_001283009.2(RTEL1):c.540A>T (p.Glu180Asp) rs1301531897
NM_001283009.2(RTEL1):c.554A>G (p.Gln185Arg)
NM_001283009.2(RTEL1):c.557A>G (p.Glu186Gly)
NM_001283009.2(RTEL1):c.562G>A (p.Ala188Thr)
NM_001283009.2(RTEL1):c.56A>G (p.Lys19Arg) rs2146141516
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val) rs963605629
NM_001283009.2(RTEL1):c.595A>G (p.Lys199Glu) rs1601096259
NM_001283009.2(RTEL1):c.599G>A (p.Ser200Asn)
NM_001283009.2(RTEL1):c.599G>C (p.Ser200Thr) rs2090120174
NM_001283009.2(RTEL1):c.601G>A (p.Gly201Arg)
NM_001283009.2(RTEL1):c.613A>G (p.Arg205Gly)
NM_001283009.2(RTEL1):c.615-3C>G rs2090159810
NM_001283009.2(RTEL1):c.632T>A (p.Leu211Gln)
NM_001283009.2(RTEL1):c.635C>T (p.Ser212Phe)
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val) rs1235107432
NM_001283009.2(RTEL1):c.667T>C (p.Phe223Leu)
NM_001283009.2(RTEL1):c.674C>G (p.Pro225Arg)
NM_001283009.2(RTEL1):c.674C>T (p.Pro225Leu)
NM_001283009.2(RTEL1):c.680A>G (p.Asn227Ser)
NM_001283009.2(RTEL1):c.682T>C (p.Tyr228His)
NM_001283009.2(RTEL1):c.683A>G (p.Tyr228Cys)
NM_001283009.2(RTEL1):c.693T>A (p.Asp231Glu)
NM_001283009.2(RTEL1):c.695C>T (p.Ala232Val) rs1035560386
NM_001283009.2(RTEL1):c.699+3G>T
NM_001283009.2(RTEL1):c.699+6G>T
NM_001283009.2(RTEL1):c.712C>T (p.His238Tyr)
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser) rs375403784
NM_001283009.2(RTEL1):c.721G>A (p.Asp241Asn)
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001283009.2(RTEL1):c.734C>T (p.Thr245Ile)
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.758A>T (p.His253Leu) rs2146193406
NM_001283009.2(RTEL1):c.75G>A (p.Met25Ile)
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala) rs115889392
NM_001283009.2(RTEL1):c.806C>T (p.Pro269Leu)
NM_001283009.2(RTEL1):c.80A>G (p.Lys27Arg) rs1240428205
NM_001283009.2(RTEL1):c.832G>A (p.Val278Ile)
NM_001283009.2(RTEL1):c.835A>C (p.Ile279Leu)
NM_001283009.2(RTEL1):c.836T>C (p.Ile279Thr)
NM_001283009.2(RTEL1):c.842A>G (p.Gln281Arg)
NM_001283009.2(RTEL1):c.865G>T (p.Ala289Ser)
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp) rs779999090
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg) rs781117322
NM_001283009.2(RTEL1):c.889C>G (p.Pro297Ala)
NM_001283009.2(RTEL1):c.893A>C (p.Glu298Ala) rs371358427
NM_001283009.2(RTEL1):c.897C>G (p.Phe299Leu)
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys) rs1601119963
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.904G>T (p.Asp302Tyr)
NM_001283009.2(RTEL1):c.915C>G (p.Ser305Arg)
NM_001283009.2(RTEL1):c.919+3G>T
NM_001283009.2(RTEL1):c.919+4C>T
NM_001283009.2(RTEL1):c.919+5G>A
NM_001283009.2(RTEL1):c.920-9C>G rs910613998
NM_001283009.2(RTEL1):c.934C>G (p.Leu312Val)
NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)
NM_001283009.2(RTEL1):c.958A>G (p.Met320Val)
NM_001283009.2(RTEL1):c.959-5C>G rs2090398159
NM_001283009.2(RTEL1):c.971G>T (p.Arg324Leu) rs113684274
NM_001283009.2(RTEL1):c.983C>A (p.Ala328Asp) rs561033103
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln) rs765444328
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
NM_001287.6(CLCN7):c.913G>A (p.Val305Met) rs558354107
NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe) rs1430140899
NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe) rs1852532958
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser)
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4132C>T (p.Arg1378Trp) rs561534995
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg) rs770170338
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
NM_001292063.2(OTOG):c.7480+6T>C rs1854206287
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
NM_001292063.2(OTOG):c.996G>T (p.Gln332His) rs1294149176
NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val) rs1907257569
NM_001304438.2(TMEM132E):c.1705G>A (p.Glu569Lys)
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
NM_001329943.3(KIAA0586):c.*3G>A rs748083468
NM_001329943.3(KIAA0586):c.-20C>T
NM_001329943.3(KIAA0586):c.-28G>A
NM_001329943.3(KIAA0586):c.-2A>G
NM_001329943.3(KIAA0586):c.-33C>G rs1246692312
NM_001329943.3(KIAA0586):c.-4C>G
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) rs186659284
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
NM_001329943.3(KIAA0586):c.1129+6A>C
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) rs963677243
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) rs2039563292
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) rs190089844
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) rs1349839476
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) rs2140763302
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001329943.3(KIAA0586):c.1254-19A>T rs2140825179
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) rs2140843404
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) rs1323358756
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) rs1245858530
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) rs761150154
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) rs369211190
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) rs2040004897
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) rs2140854100
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) rs2140874422
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) rs780461594
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) rs940229482
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) rs1210187670
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) rs2140886222
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) rs1473572852
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) rs769913250
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) rs2140375856
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) rs751924115
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) rs2140939104
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) rs1868384082
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
NM_001329943.3(KIAA0586):c.213_270+11dup
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) rs2140939862
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) rs757373300
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) rs750671663
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) rs2140940326
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) rs1489902309
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
NM_001329943.3(KIAA0586):c.2255-3T>C rs2140956887
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) rs2140957750
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) rs1302610013
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) rs1302610013
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) rs2140391234
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) rs1320727649
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) rs750244824
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) rs763982126
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) rs200219991
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) rs2140987094
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) rs749680733
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
NM_001329943.3(KIAA0586):c.2553+6T>C
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) rs1024217852
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
NM_001329943.3(KIAA0586):c.2554-14A>G
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) rs74055693
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) rs2041278053
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) rs868621645
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
NM_001329943.3(KIAA0586):c.2634+10C>G
NM_001329943.3(KIAA0586):c.2634+5C>G
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) rs760087214
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) rs780403471
NM_001329943.3(KIAA0586):c.270+3A>G rs2140391500
NM_001329943.3(KIAA0586):c.270+7A>C
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) rs753434086
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) rs2141025129
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) rs2141025393
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
NM_001329943.3(KIAA0586):c.2826-8C>A rs2141053167
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) rs2141053576
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) rs1161690227
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) rs2141054763
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) rs2140372595
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) rs182274649
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) rs767378597
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) rs2042116751
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) rs367811307
NM_001329943.3(KIAA0586):c.3144+3A>G rs956345090
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) rs1472123420
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) rs1453619075
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) rs2140404760
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) rs2141182370
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) rs2042507801
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) rs187091758
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
NM_001329943.3(KIAA0586):c.3304+5A>C
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
NM_001329943.3(KIAA0586):c.3305-3T>C
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) rs2141192396
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) rs2141193303
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) rs770153870
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) rs2141193523
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) rs1409454378
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) rs2141194171
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) rs2042587558
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) rs2141194729
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) rs2141194889
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) rs778492541
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) rs778377845
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) rs2141195740
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) rs750251144
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) rs754567597
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) rs780785984
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) rs368352741
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) rs1292752792
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) rs183240083
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) rs2140422825
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) rs2037453984
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) rs756960694
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) rs1399193101
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) rs748648408
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
NM_001329943.3(KIAA0586):c.3858+4A>G rs2042748796
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) rs2141237535
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) rs779179754
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) rs1369311999
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) rs1270703288
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) rs1260148388
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) rs2043350107
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) rs2043350903
NM_001329943.3(KIAA0586):c.410+3A>G
NM_001329943.3(KIAA0586):c.411-1364A>G
NM_001329943.3(KIAA0586):c.411-1381C>T rs749413114
NM_001329943.3(KIAA0586):c.411-1404G>A
NM_001329943.3(KIAA0586):c.411-1405T>C
NM_001329943.3(KIAA0586):c.411-1409C>T rs2140521828
NM_001329943.3(KIAA0586):c.411-1427A>G
NM_001329943.3(KIAA0586):c.411-1431C>G
NM_001329943.3(KIAA0586):c.411-1448G>A
NM_001329943.3(KIAA0586):c.411-1494C>A
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) rs2141310739
NM_001329943.3(KIAA0586):c.4168+5A>G
NM_001329943.3(KIAA0586):c.4168+6C>T
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) rs1164983892
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) rs2141430559
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) rs746899731
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) rs1356513118
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) rs548063080
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) rs2141431422
NM_001329943.3(KIAA0586):c.4323+3A>G
NM_001329943.3(KIAA0586):c.4323+4C>T rs2044176022
NM_001329943.3(KIAA0586):c.4323+5C>G rs2141431529
NM_001329943.3(KIAA0586):c.4324-4T>G rs1429230924
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) rs2141479700
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) rs2141479904
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) rs1051498929
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
NM_001329943.3(KIAA0586):c.4429+4A>G rs1017273332
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) rs2140098041
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
NM_001329943.3(KIAA0586):c.4495+3762T>C
NM_001329943.3(KIAA0586):c.4495+3779A>G rs968172462
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
NM_001329943.3(KIAA0586):c.4495+3797T>C
NM_001329943.3(KIAA0586):c.4495+4A>G
NM_001329943.3(KIAA0586):c.4495+6A>G
NM_001329943.3(KIAA0586):c.4496-3814G>A rs2140128786
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) rs2140156234
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) rs2140156359
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) rs542432352
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) rs2140156856
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) rs2140157005
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) rs1301341396
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) rs1202184988
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) rs748340175
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) rs2038635110
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) rs2140373651
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) rs1373940232
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) rs774888789
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) rs2140567428
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) rs1290912165
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) rs2140568101
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) rs1417240682
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) rs2039078597
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) rs769369839
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) rs2039080763
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) rs2140662489
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) rs2140663692
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) rs2140664162
NM_001329943.3(KIAA0586):c.961+6_961+7del rs1308763926
NM_001329943.3(KIAA0586):c.962-3A>C
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) rs1317366636
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) rs780810159
NM_001347.4(DGKQ):c.200C>T (p.Thr67Met)
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile) rs1389837024
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg) rs746655221
NM_001351132.2(PEX5):c.*1080T>C rs755972180
NM_001351132.2(PEX5):c.*1089T>C rs886049834
NM_001351132.2(PEX5):c.*1134T>C rs769928491
NM_001351132.2(PEX5):c.*171A>G rs1945423860
NM_001351132.2(PEX5):c.*1C>T rs886049827
NM_001351132.2(PEX5):c.*249C>G rs1945433657
NM_001351132.2(PEX5):c.*61C>A rs746752569
NM_001351132.2(PEX5):c.*677G>T rs886049830
NM_001351132.2(PEX5):c.*766C>T rs764837013
NM_001351132.2(PEX5):c.*991_*992dup rs886049833
NM_001351132.2(PEX5):c.-17+21_-17+22insCCG rs886049824
NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001351132.2(PEX5):c.-17+40T>C rs796452917
NM_001351132.2(PEX5):c.-49G>A rs886049823
NM_001351132.2(PEX5):c.-49G>T rs886049823
NM_001351132.2(PEX5):c.-55C>G rs886049822
NM_001351132.2(PEX5):c.-69C>T rs886049821
NM_001351132.2(PEX5):c.1037T>C (p.Leu346Pro) rs2136227054
NM_001351132.2(PEX5):c.1048G>A (p.Asp350Asn)
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys) rs2135878731
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr) rs2135878731
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)
NM_001351132.2(PEX5):c.1110+5G>A rs2136228030
NM_001351132.2(PEX5):c.1132A>G (p.Thr378Ala) rs2136230585
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser) rs2136230724
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg) rs2136230787
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser) rs751937990
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup) rs774781585
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)
NM_001351132.2(PEX5):c.1181+4A>G rs2136231209
NM_001351132.2(PEX5):c.1182G>A (p.Arg394=) rs199624284
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser) rs199624284
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn) rs1945098580
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys) rs2135879116
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr) rs781410836
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)
NM_001351132.2(PEX5):c.122C>A (p.Pro41His) rs772786048
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu) rs772786048
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile) rs1458919607
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys) rs1945105117
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala) rs2135879394
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met) rs2136236124
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val) rs1945109944
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg) rs2136236516
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu) rs774915360
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)
NM_001351132.2(PEX5):c.1312C>T (p.His438Tyr) rs2136237273
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met) rs756242143
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val) rs372992555
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala) rs2136237401
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile) rs777898843
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser) rs1379216235
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu) rs145649593
NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val) rs774709242
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe) rs774709242
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser) rs2136238274
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)
NM_001351132.2(PEX5):c.1395-14T>C rs1945174737
NM_001351132.2(PEX5):c.1395C>T (p.Asp465=)
NM_001351132.2(PEX5):c.140_147+36del
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp) rs1945181377
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)
NM_001351132.2(PEX5):c.147+6T>C rs2135881175
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.148-18T>C
NM_001351132.2(PEX5):c.148-20T>G
NM_001351132.2(PEX5):c.1489C>A (p.Leu497Ile) rs2136243573
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser) rs1945199025
NM_001351132.2(PEX5):c.1543C>G (p.Leu515Val) rs370984432
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys) rs182028506
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His) rs146183061
NM_001351132.2(PEX5):c.1560+6C>T rs1945208210
NM_001351132.2(PEX5):c.1561-3C>T
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys) rs1205322300
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr) rs1591804566
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn) rs1945293420
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys) rs977141805
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly) rs1460981277
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=) rs753512677
NM_001351132.2(PEX5):c.1651C>T (p.Leu551Phe) rs2136256584
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val) rs1945310790
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val) rs778897851
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr) rs1945312349
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)
NM_001351132.2(PEX5):c.1718+5G>A rs1085307998
NM_001351132.2(PEX5):c.1744G>T (p.Ala582Ser) rs2136263113
NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)
NM_001351132.2(PEX5):c.1778G>C (p.Arg593Pro)
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu) rs748956654
NM_001351132.2(PEX5):c.1811G>A (p.Trp604Ter)
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val) rs1945371383
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)
NM_001351132.2(PEX5):c.183+4A>G rs2135890266
NM_001351132.2(PEX5):c.183+6T>G rs1296968716
NM_001351132.2(PEX5):c.1835C>G (p.Ser612Cys)
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile) rs750620715
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile) rs751637149
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys) rs2136266140
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs) rs1183517073
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg) rs751798701
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg) rs138706552
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu) rs138706552
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His) rs1271426444
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu) rs757539708
NM_001351132.2(PEX5):c.1A>G (p.Met1Val) rs2135875571
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala) rs2135896856
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala) rs1941053816
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys) rs768373250
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp) rs1488661702
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly) rs768652769
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)
NM_001351132.2(PEX5):c.287A>G (p.Gln96Arg)
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln) rs747725502
NM_001351132.2(PEX5):c.292A>C (p.Asn98His) rs374327439
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu) rs573650362
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser) rs2135899269
NM_001351132.2(PEX5):c.317-19TC[4]
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg) rs1347906263
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys) rs1385787688
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe) rs1385787688
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)
NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser) rs951795989
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu) rs200720523
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys) rs1943231620
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala) rs2136074053
NM_001351132.2(PEX5):c.48G>C (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del) rs773404109
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln) rs1565693412
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)
NM_001351132.2(PEX5):c.517C>A (p.Leu173Met) rs1943245558
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile) rs2136075556
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser) rs746104983
NM_001351132.2(PEX5):c.551G>C (p.Trp184Ser)
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)
NM_001351132.2(PEX5):c.569C>T (p.Pro190Leu) rs2136143100
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn) rs750906889
NM_001351132.2(PEX5):c.620A>T (p.Asp207Val) rs1011160954
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg) rs748132358
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)
NM_001351132.2(PEX5):c.643-5C>T rs886049826
NM_001351132.2(PEX5):c.645C>A (p.Phe215Leu) rs1944168456
NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val) rs2136152339
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg) rs2136152526
NM_001351132.2(PEX5):c.708C>T (p.Gly236=) rs778009052
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln) rs1011369978
NM_001351132.2(PEX5):c.712G>T (p.Ala238Ser)
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser) rs1944190059
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu) rs1442020873
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp) rs1234343542
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile) rs776020873
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser) rs1445974761
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr) rs1940819292
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe) rs2136158729
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly) rs2135877981
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)
NM_001351132.2(PEX5):c.845A>C (p.Glu282Ala)
NM_001351132.2(PEX5):c.846+5G>A
NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp) rs2136159660
NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys) rs370010815
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe) rs370010815
NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn) rs1246877750
NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly) rs1216991743
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe) rs1940821861
NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly) rs767306549
NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln) rs2136175132
NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)
NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp) rs767406855
NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu) rs1446059699
NM_001351132.2(PEX5):c.947C>T (p.Thr316Met) rs747529713
NM_001351132.2(PEX5):c.956C>A (p.Thr319Asn) rs1310273629
NM_001351132.2(PEX5):c.961_963del (p.Asp321del) rs1256295273
NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg) rs770028664
NM_001351132.2(PEX5):c.967G>C (p.Gly323Arg)
NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu) rs1369524555
NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)
NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)
NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu) rs59209175
NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)
NM_001353108.3(CEP63):c.1973C>A (p.Pro658His) rs781235688
NM_001353108.3(CEP63):c.790-11C>G
NM_001365068.1(ASTN2):c.892G>C (p.Asp298His)
NM_001366722.1(GRIP1):c.*1216G>T rs2054042410
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_001366722.1(GRIP1):c.*1388_*1390dup rs886049789
NM_001366722.1(GRIP1):c.*1422_*1426del rs886049788
NM_001366722.1(GRIP1):c.*1511G>A rs760559161
NM_001366722.1(GRIP1):c.*1548_*1551dup rs886049787
NM_001366722.1(GRIP1):c.*1559dup rs886049786
NM_001366722.1(GRIP1):c.*228C>A rs1344322970
NM_001366722.1(GRIP1):c.*417G>A rs886049795
NM_001366722.1(GRIP1):c.*679dup rs367709432
NM_001366722.1(GRIP1):c.*723_*725dup rs886049794
NM_001366722.1(GRIP1):c.*735_*738dup rs551666983
NM_001366722.1(GRIP1):c.*752TAT[3] rs148302164
NM_001366722.1(GRIP1):c.*753_*757del rs886049793
NM_001366722.1(GRIP1):c.*832G>C rs2054060318
NM_001366722.1(GRIP1):c.*915T>C rs886049792
NM_001366722.1(GRIP1):c.1115A>G (p.Asn372Ser) rs777164145
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=) rs886049797
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.240A>G (p.Val80=) rs886049799
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu) rs1244319253
NM_001366722.1(GRIP1):c.270T>C (p.Ala90=) rs867711989
NM_001366722.1(GRIP1):c.2814T>C (p.Asn938=) rs2055525326
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala) rs568959118
NM_001366722.1(GRIP1):c.421G>A (p.Val141Met)
NM_001366722.1(GRIP1):c.553G>A (p.Val185Ile) rs754804786
NM_001366722.1(GRIP1):c.730G>A (p.Val244Met) rs2059260334
NM_001366722.1(GRIP1):c.815G>T (p.Cys272Phe)
NM_001366722.1(GRIP1):c.820A>G (p.Asn274Asp) rs2059257106
NM_001367624.2(ZNF469):c.*1323G>A rs780254370
NM_001367624.2(ZNF469):c.*1348G>A rs886052428
NM_001367624.2(ZNF469):c.*491T>C rs557906701
NM_001367624.2(ZNF469):c.*547G>T rs370886541
NM_001367624.2(ZNF469):c.*879T>C rs886052426
NM_001367624.2(ZNF469):c.*932A>G rs886052427
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) rs281165933
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly) rs1429918039
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=) rs763317477
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn) rs967698954
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=) rs886052419
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly) rs886052420
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg) rs529322092
NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro) rs1555520642
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile) rs766057875
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del) rs886052397
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp) rs886052401
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg) rs1597208940
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn) rs886052403
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr) rs886052404
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) rs273585620
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg) rs544832628
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser) rs778548266
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg) rs2142308428
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu) rs886052407
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) rs1215843229
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr) rs886052411
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn) rs985304000
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) rs142753357
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu) rs886052414
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=) rs886052415
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro) rs1906626370
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn) rs1285839120
NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe) rs1566025862
NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)
NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) rs1771089963
NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) rs1771090642
NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)
NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) rs375901638
NM_001374623.1(PNPLA1):c.1595+777A>T rs1212752036
NM_001374623.1(PNPLA1):c.205+5G>A rs1561853887
NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) rs1561864099
NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) rs141261965
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) rs1554137705
NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) rs140585347
NM_001374623.1(PNPLA1):c.439-6G>A rs201125928
NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr)
NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) rs748310345
NM_001374623.1(PNPLA1):c.715-10C>T rs1770824903
NM_001374623.1(PNPLA1):c.889C>T (p.Leu297Phe) rs752011907
NM_001374623.1(PNPLA1):c.962G>A (p.Arg321Lys) rs886061375
NM_001376256.1(CRYM):c.251G>A (p.Gly84Asp)
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
NM_001378454.1(ALMS1):c.-12C>G rs1553396082
NM_001378454.1(ALMS1):c.-1C>T rs756956183
NM_001378454.1(ALMS1):c.-7C>T rs1296403299
NM_001378454.1(ALMS1):c.-8dup rs1553396085
NM_001378454.1(ALMS1):c.-9G>A rs1553396083
NM_001378454.1(ALMS1):c.10004G>A (p.Gly3335Glu)
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys) rs1674404167
NM_001378454.1(ALMS1):c.10012A>C (p.Ser3338Arg)
NM_001378454.1(ALMS1):c.10016A>G (p.Lys3339Arg)
NM_001378454.1(ALMS1):c.10017G>A (p.Lys3339=)
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu) rs1674404816
NM_001378454.1(ALMS1):c.1003G>A (p.Asp335Asn)
NM_001378454.1(ALMS1):c.10042C>T (p.Pro3348Ser)
NM_001378454.1(ALMS1):c.10047G>T (p.Val3349=)
NM_001378454.1(ALMS1):c.10064A>G (p.Gln3355Arg)
NM_001378454.1(ALMS1):c.10064A>T (p.Gln3355Leu)
NM_001378454.1(ALMS1):c.10078+14C>T
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp) rs1195894910
NM_001378454.1(ALMS1):c.10093G>T (p.Val3365Leu) rs1316719149
NM_001378454.1(ALMS1):c.10103C>G (p.Thr3368Ser) rs1270212178
NM_001378454.1(ALMS1):c.10105G>A (p.Gly3369Arg)
NM_001378454.1(ALMS1):c.10106G>A (p.Gly3369Glu) rs2104057922
NM_001378454.1(ALMS1):c.10108G>A (p.Asp3370Asn) rs751123703
NM_001378454.1(ALMS1):c.10115A>C (p.Asn3372Thr)
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10130A>C (p.Lys3377Thr)
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp) rs1045473444
NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla)
NM_001378454.1(ALMS1):c.10166A>C (p.Glu3389Ala)
NM_001378454.1(ALMS1):c.10177G>C (p.Ala3393Pro) rs145678202
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10178C>G (p.Ala3393Gly) rs1231100277
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu) rs886056316
NM_001378454.1(ALMS1):c.10187A>G (p.Lys3396Arg)
NM_001378454.1(ALMS1):c.10199A>C (p.Gln3400Pro)
NM_001378454.1(ALMS1):c.10204G>T (p.Asp3402Tyr)
NM_001378454.1(ALMS1):c.10208C>G (p.Thr3403Ser) rs1231406875
NM_001378454.1(ALMS1):c.10210G>T (p.Ala3404Ser)
NM_001378454.1(ALMS1):c.10213+3A>G rs1553416881
NM_001378454.1(ALMS1):c.10213G>A (p.Asp3405Asn)
NM_001378454.1(ALMS1):c.10213G>T (p.Asp3405Tyr) rs2104058482
NM_001378454.1(ALMS1):c.10214-11C>G rs1365430683
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup) rs760731440
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
NM_001378454.1(ALMS1):c.1022A>G (p.Asp341Gly) rs762728069
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser) rs1454233838
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg) rs1674601435
NM_001378454.1(ALMS1):c.10244C>T (p.Ser3415Leu)
NM_001378454.1(ALMS1):c.10249C>G (p.Gln3417Glu)
NM_001378454.1(ALMS1):c.10252G>A (p.Val3418Ile)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10279C>A (p.Pro3427Thr) rs2104063862
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu) rs2104063874
NM_001378454.1(ALMS1):c.10294A>C (p.Ile3432Leu) rs2104063946
NM_001378454.1(ALMS1):c.10304A>T (p.Lys3435Ile)
NM_001378454.1(ALMS1):c.10308G>A (p.Glu3436=)
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr) rs1674603162
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10326G>C (p.Lys3442Asn)
NM_001378454.1(ALMS1):c.10330G>A (p.Val3444Ile)
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser) rs267599448
NM_001378454.1(ALMS1):c.10334_10335delinsTA (p.Pro3445Leu)
NM_001378454.1(ALMS1):c.10336G>A (p.Glu3446Lys)
NM_001378454.1(ALMS1):c.10353C>A (p.Asn3451Lys) rs1209953727
NM_001378454.1(ALMS1):c.10358A>G (p.Lys3453Arg)
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met) rs767799669
NM_001378454.1(ALMS1):c.10375A>C (p.Asn3459His)
NM_001378454.1(ALMS1):c.10375A>G (p.Asn3459Asp) rs773439063
NM_001378454.1(ALMS1):c.10377T>A (p.Asn3459Lys) rs2104064364
NM_001378454.1(ALMS1):c.10378A>G (p.Ile3460Val)
NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys)
NM_001378454.1(ALMS1):c.10384+1632G>A
NM_001378454.1(ALMS1):c.10384+2dup rs1255846889
NM_001378454.1(ALMS1):c.10384+4A>G rs2104064401
NM_001378454.1(ALMS1):c.10384+5T>C rs758235228
NM_001378454.1(ALMS1):c.10385-16T>A
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.10412A>C (p.Asn3471Thr) rs2104103500
NM_001378454.1(ALMS1):c.10417A>T (p.Thr3473Ser) rs2104103542
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.10424C>G (p.Ser3475Cys)
NM_001378454.1(ALMS1):c.10443G>C (p.Lys3481Asn)
NM_001378454.1(ALMS1):c.10448A>G (p.Tyr3483Cys) rs2104103714
NM_001378454.1(ALMS1):c.10458_10466dup (p.Pro3487_His3489dup) rs1553418413
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu) rs1674947337
NM_001378454.1(ALMS1):c.10462G>A (p.Val3488Ile)
NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly)
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg) rs1553418430
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn) rs533617405
NM_001378454.1(ALMS1):c.10490G>A (p.Cys3497Tyr)
NM_001378454.1(ALMS1):c.10490G>C (p.Cys3497Ser)
NM_001378454.1(ALMS1):c.104_106dup (p.Ala35_Asn36insThr)
NM_001378454.1(ALMS1):c.10510A>G (p.Ser3504Gly) rs45585940
NM_001378454.1(ALMS1):c.10511G>A (p.Ser3504Asn) rs1558699257
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val) rs1350031802
NM_001378454.1(ALMS1):c.10537G>T (p.Asp3513Tyr) rs1674949916
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10562A>G (p.Lys3521Arg)
NM_001378454.1(ALMS1):c.10565A>G (p.His3522Arg)
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln) rs1674954136
NM_001378454.1(ALMS1):c.10578G>C (p.Met3526Ile)
NM_001378454.1(ALMS1):c.10588C>G (p.Leu3530Val)
NM_001378454.1(ALMS1):c.10588C>T (p.Leu3530Phe) rs781331448
NM_001378454.1(ALMS1):c.10592C>G (p.Pro3531Arg) rs2104104344
NM_001378454.1(ALMS1):c.10602C>T (p.Asn3534=)
NM_001378454.1(ALMS1):c.10603A>G (p.Met3535Val) rs769907792
NM_001378454.1(ALMS1):c.10607A>G (p.Asp3536Gly)
NM_001378454.1(ALMS1):c.10612A>G (p.Thr3538Ala) rs1225039531
NM_001378454.1(ALMS1):c.10613C>T (p.Thr3538Ile)
NM_001378454.1(ALMS1):c.10616A>C (p.Lys3539Thr) rs1223712611
NM_001378454.1(ALMS1):c.10621G>A (p.Asp3541Asn)
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
NM_001378454.1(ALMS1):c.1062A>T (p.Thr354=)
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg) rs893243465
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His) rs1674958037
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829
NM_001378454.1(ALMS1):c.10668C>G (p.Asn3556Lys)
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn) rs1674959132
NM_001378454.1(ALMS1):c.10679T>C (p.Met3560Thr) rs752203028
NM_001378454.1(ALMS1):c.10679T>G (p.Met3560Arg) rs752203028
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser) rs1674959661
NM_001378454.1(ALMS1):c.10693A>T (p.Ser3565Cys)
NM_001378454.1(ALMS1):c.1069C>A (p.Pro357Thr) rs2103715581
NM_001378454.1(ALMS1):c.10703G>C (p.Arg3568Thr)
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10733G>A (p.Ser3578Asn)
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His) rs1450650278
NM_001378454.1(ALMS1):c.10736A>G (p.Asp3579Gly)
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
NM_001378454.1(ALMS1):c.10753_10755del (p.Lys3585del)
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
NM_001378454.1(ALMS1):c.10768C>G (p.Gln3590Glu) rs1674961683
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile) rs773091397
NM_001378454.1(ALMS1):c.10778A>G (p.Gln3593Arg)
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
NM_001378454.1(ALMS1):c.10808A>G (p.Asn3603Ser)
NM_001378454.1(ALMS1):c.10819G>A (p.Glu3607Lys)
NM_001378454.1(ALMS1):c.10822C>G (p.Arg3608Gly)
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg) rs886056317
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
NM_001378454.1(ALMS1):c.10873T>A (p.Leu3625Met)
NM_001378454.1(ALMS1):c.10885C>T (p.Leu3629Phe)
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
NM_001378454.1(ALMS1):c.10903A>G (p.Ile3635Val) rs1674966271
NM_001378454.1(ALMS1):c.10906C>A (p.Leu3636Ile) rs1573030520
NM_001378454.1(ALMS1):c.10907T>C (p.Leu3636Pro) rs2104105685
NM_001378454.1(ALMS1):c.10909C>G (p.Gln3637Glu) rs754108525
NM_001378454.1(ALMS1):c.10918A>G (p.Ile3640Val)
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg) rs1240495775
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val) rs1060500033
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr) rs1229379546
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys) rs397514576
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn) rs2104105859
NM_001378454.1(ALMS1):c.10951C>T (p.His3651Tyr)
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg) rs1294645835
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg) rs1674968038
NM_001378454.1(ALMS1):c.10967G>A (p.Gly3656Glu)
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg) rs2103715685
NM_001378454.1(ALMS1):c.10987T>G (p.Trp3663Gly) rs748921342
NM_001378454.1(ALMS1):c.10994G>T (p.Gly3665Val)
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg) rs773767346
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr) rs1674969661
NM_001378454.1(ALMS1):c.11028G>T (p.Lys3676Asn)
NM_001378454.1(ALMS1):c.1102T>G (p.Ser368Ala)
NM_001378454.1(ALMS1):c.11044C>G (p.Leu3682Val) rs1674970712
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11057A>G (p.His3686Arg) rs912853018
NM_001378454.1(ALMS1):c.11057A>T (p.His3686Leu)
NM_001378454.1(ALMS1):c.11066C>T (p.Thr3689Ile)
NM_001378454.1(ALMS1):c.1106T>C (p.Val369Ala)
NM_001378454.1(ALMS1):c.11084G>A (p.Ser3695Asn) rs780014956
NM_001378454.1(ALMS1):c.11091G>A (p.Val3697=)
NM_001378454.1(ALMS1):c.11099ATC[1] (p.His3701del) rs1426150645
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
NM_001378454.1(ALMS1):c.11105G>T (p.Arg3702Leu)
NM_001378454.1(ALMS1):c.11107G>T (p.Ala3703Ser)
NM_001378454.1(ALMS1):c.11115G>T (p.Arg3705Ser) rs2104106559
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His) rs200464290
NM_001378454.1(ALMS1):c.11119A>G (p.Asn3707Asp)
NM_001378454.1(ALMS1):c.11127T>G (p.Ile3709Met) rs2104106623
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11150A>G (p.Asp3717Gly)
NM_001378454.1(ALMS1):c.11164A>G (p.Ser3722Gly) rs2104106753
NM_001378454.1(ALMS1):c.11177G>A (p.Gly3726Asp)
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr) rs1209512957
NM_001378454.1(ALMS1):c.11201C>A (p.Ser3734Tyr)
NM_001378454.1(ALMS1):c.11204C>G (p.Ser3735Trp)
NM_001378454.1(ALMS1):c.11206G>C (p.Asp3736His)
NM_001378454.1(ALMS1):c.11207A>G (p.Asp3736Gly)
NM_001378454.1(ALMS1):c.11210G>A (p.Cys3737Tyr) rs1553418562
NM_001378454.1(ALMS1):c.11212C>T (p.Arg3738Trp)
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
NM_001378454.1(ALMS1):c.11225A>T (p.Glu3742Val) rs1674978014
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
NM_001378454.1(ALMS1):c.11240C>G (p.Thr3747Arg) rs2104107105
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
NM_001378454.1(ALMS1):c.11246C>G (p.Thr3749Ser)
NM_001378454.1(ALMS1):c.11251A>G (p.Thr3751Ala)
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His) rs777251736
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11268CAC[1] (p.Thr3758del)
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro) rs376750978
NM_001378454.1(ALMS1):c.11272A>G (p.Thr3758Ala)
NM_001378454.1(ALMS1):c.11278_11280del (p.Thr3760del)
NM_001378454.1(ALMS1):c.11279C>G (p.Thr3760Ser) rs370381761
NM_001378454.1(ALMS1):c.11282T>A (p.Val3761Asp)
NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr)
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11319G>A (p.Val3773=)
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr) rs2104107559
NM_001378454.1(ALMS1):c.11327A>C (p.His3776Pro)
NM_001378454.1(ALMS1):c.11328C>G (p.His3776Gln) rs45596541
NM_001378454.1(ALMS1):c.11332A>T (p.Arg3778Trp) rs773130069
NM_001378454.1(ALMS1):c.11339G>T (p.Ser3780Ile) rs1674982019
NM_001378454.1(ALMS1):c.11340C>A (p.Ser3780Arg) rs2104107651
NM_001378454.1(ALMS1):c.11341T>C (p.Ser3781Pro)
NM_001378454.1(ALMS1):c.11354T>C (p.Ile3785Thr)
NM_001378454.1(ALMS1):c.11363C>G (p.Ala3788Gly)
NM_001378454.1(ALMS1):c.11366G>A (p.Arg3789Gln) rs1167052698
NM_001378454.1(ALMS1):c.11372T>C (p.Ile3791Thr)
NM_001378454.1(ALMS1):c.11373T>G (p.Ile3791Met) rs758244336
NM_001378454.1(ALMS1):c.11377G>T (p.Ala3793Ser)
NM_001378454.1(ALMS1):c.11378C>G (p.Ala3793Gly)
NM_001378454.1(ALMS1):c.1138A>G (p.Ile380Val)
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly) rs1674983774
NM_001378454.1(ALMS1):c.11393G>C (p.Arg3798Thr) rs1006564458
NM_001378454.1(ALMS1):c.11398T>C (p.Cys3800Arg)
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
NM_001378454.1(ALMS1):c.11408C>G (p.Pro3803Arg) rs2104108029
NM_001378454.1(ALMS1):c.11411G>A (p.Arg3804Lys) rs201028172
NM_001378454.1(ALMS1):c.11429G>A (p.Ser3810Asn)
NM_001378454.1(ALMS1):c.11430C>A (p.Ser3810Arg)
NM_001378454.1(ALMS1):c.11432G>A (p.Ser3811Asn)
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
NM_001378454.1(ALMS1):c.11438C>G (p.Thr3813Ser) rs1183268252
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser) rs763907736
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys) rs909204912
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn) rs761539239
NM_001378454.1(ALMS1):c.1147A>G (p.Lys383Glu) rs1671348306
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile) rs776648380
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=) rs374164508
NM_001378454.1(ALMS1):c.11515A>G (p.Thr3839Ala) rs761578558
NM_001378454.1(ALMS1):c.11521G>A (p.Glu3841Lys)
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg) rs1674988399
NM_001378454.1(ALMS1):c.11547+5A>C rs1181494101
NM_001378454.1(ALMS1):c.11547+5A>G
NM_001378454.1(ALMS1):c.11547+6T>C
NM_001378454.1(ALMS1):c.11548-12_11548-11del rs767458195
NM_001378454.1(ALMS1):c.11548-8T>C
NM_001378454.1(ALMS1):c.11548G>T (p.Val3850Leu)
NM_001378454.1(ALMS1):c.11551G>A (p.Ala3851Thr) rs1454003034
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11559T>G (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11596A>G (p.Ser3866Gly) rs2104188910
NM_001378454.1(ALMS1):c.115G>A (p.Asp39Asn)
NM_001378454.1(ALMS1):c.115G>T (p.Asp39Tyr) rs2104058286
NM_001378454.1(ALMS1):c.11601C>G (p.Phe3867Leu) rs80009262
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys) rs886056318
NM_001378454.1(ALMS1):c.11612A>T (p.Asn3871Ile)
NM_001378454.1(ALMS1):c.11641C>G (p.His3881Asp)
NM_001378454.1(ALMS1):c.11645T>C (p.Met3882Thr)
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup) rs1468861836
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His) rs1671348747
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu) rs541024346
NM_001378454.1(ALMS1):c.11665G>A (p.Ala3889Thr)
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.11668+3A>G rs2104189383
NM_001378454.1(ALMS1):c.11668+6T>G rs1553421499
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-3C>T rs767901840
NM_001378454.1(ALMS1):c.11688C>A (p.Asn3896Lys)
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
NM_001378454.1(ALMS1):c.11700A>C (p.Lys3900Asn) rs1224532344
NM_001378454.1(ALMS1):c.11710G>T (p.Asp3904Tyr)
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
NM_001378454.1(ALMS1):c.11714T>C (p.Val3905Ala)
NM_001378454.1(ALMS1):c.11726T>C (p.Phe3909Ser)
NM_001378454.1(ALMS1):c.11743A>C (p.Ser3915Arg)
NM_001378454.1(ALMS1):c.11747A>G (p.Glu3916Gly) rs2104193436
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.11755T>G (p.Leu3919Val) rs750372739
NM_001378454.1(ALMS1):c.11756T>G (p.Leu3919Trp)
NM_001378454.1(ALMS1):c.11766C>G (p.Asn3922Lys) rs2104193506
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del) rs1553421645
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11802A>C (p.Glu3934Asp)
NM_001378454.1(ALMS1):c.11821G>T (p.Gly3941Cys) rs61741524
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)
NM_001378454.1(ALMS1):c.11849A>C (p.Lys3950Thr) rs2104194109
NM_001378454.1(ALMS1):c.11850G>T (p.Lys3950Asn)
NM_001378454.1(ALMS1):c.11853C>A (p.Asn3951Lys)
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys) rs577759803
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln) rs771282076
NM_001378454.1(ALMS1):c.11863T>C (p.Ser3955Pro)
NM_001378454.1(ALMS1):c.11867A>C (p.His3956Pro)
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.11873-13_11873-12delinsAC
NM_001378454.1(ALMS1):c.11873-4G>A rs1553421697
NM_001378454.1(ALMS1):c.11873-7C>T rs1553421696
NM_001378454.1(ALMS1):c.11873-8T>G rs2104195252
NM_001378454.1(ALMS1):c.1187A>T (p.Gln396Leu)
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg) rs774496480
NM_001378454.1(ALMS1):c.11887G>A (p.Val3963Ile)
NM_001378454.1(ALMS1):c.11887G>T (p.Val3963Phe) rs886056319
NM_001378454.1(ALMS1):c.11890C>T (p.Pro3964Ser)
NM_001378454.1(ALMS1):c.11895G>A (p.Val3965=) rs2104195453
NM_001378454.1(ALMS1):c.11908T>C (p.Ser3970Pro) rs200170158
NM_001378454.1(ALMS1):c.11923G>A (p.Glu3975Lys)
NM_001378454.1(ALMS1):c.11928C>A (p.Asn3976Lys)
NM_001378454.1(ALMS1):c.11948C>G (p.Pro3983Arg)
NM_001378454.1(ALMS1):c.11948C>T (p.Pro3983Leu) rs754031448
NM_001378454.1(ALMS1):c.11963T>C (p.Phe3988Ser)
NM_001378454.1(ALMS1):c.11964T>G (p.Phe3988Leu) rs2104195845
NM_001378454.1(ALMS1):c.11971A>C (p.Ile3991Leu)
NM_001378454.1(ALMS1):c.11971A>T (p.Ile3991Leu)
NM_001378454.1(ALMS1):c.11980A>G (p.Thr3994Ala)
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser) rs767061718
NM_001378454.1(ALMS1):c.1199A>G (p.Gln400Arg) rs372747251
NM_001378454.1(ALMS1):c.12010C>G (p.Gln4004Glu) rs2104196109
NM_001378454.1(ALMS1):c.12022G>C (p.Gly4008Arg)
NM_001378454.1(ALMS1):c.1202A>G (p.Glu401Gly)
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu) rs370981817
NM_001378454.1(ALMS1):c.12038G>A (p.Gly4013Asp)
NM_001378454.1(ALMS1):c.12041G>A (p.Arg4014Gln) rs768365250
NM_001378454.1(ALMS1):c.12047A>G (p.Tyr4016Cys)
NM_001378454.1(ALMS1):c.12062G>A (p.Gly4021Asp)
NM_001378454.1(ALMS1):c.12068A>G (p.Glu4023Gly)
NM_001378454.1(ALMS1):c.12071C>A (p.Ala4024Asp) rs372211401
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del) rs1245181381
NM_001378454.1(ALMS1):c.12104C>T (p.Ala4035Val)
NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg) rs1057524132
NM_001378454.1(ALMS1):c.12114+3_12114+12del rs1348254028
NM_001378454.1(ALMS1):c.12115-13_12115-3del
NM_001378454.1(ALMS1):c.12115-3T>A
NM_001378454.1(ALMS1):c.12115-8T>C rs78455676
NM_001378454.1(ALMS1):c.1211C>G (p.Ser404Cys)
NM_001378454.1(ALMS1):c.12121C>T (p.Leu4041Phe) rs1313847991
NM_001378454.1(ALMS1):c.12131A>C (p.His4044Pro) rs993631169
NM_001378454.1(ALMS1):c.12137C>G (p.Pro4046Arg)
NM_001378454.1(ALMS1):c.12142T>A (p.Phe4048Ile) rs1675709581
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=) rs1553421877
NM_001378454.1(ALMS1):c.12152G>T (p.Arg4051Leu) rs750598025
NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle) rs1675710118
NM_001378454.1(ALMS1):c.12155C>T (p.Ser4052Phe) rs1190081649
NM_001378454.1(ALMS1):c.12157G>A (p.Gly4053Arg) rs2104199532
NM_001378454.1(ALMS1):c.12159G>C (p.Gly4053=)
NM_001378454.1(ALMS1):c.12159G>T (p.Gly4053=) rs2104199548
NM_001378454.1(ALMS1):c.12163C>G (p.Arg4055Gly)
NM_001378454.1(ALMS1):c.12163C>T (p.Arg4055Trp) rs569696567
NM_001378454.1(ALMS1):c.12173G>T (p.Arg4058Leu)
NM_001378454.1(ALMS1):c.12179A>G (p.Lys4060Arg)
NM_001378454.1(ALMS1):c.12185T>C (p.Ile4062Thr)
NM_001378454.1(ALMS1):c.12187G>C (p.Val4063Leu)
NM_001378454.1(ALMS1):c.12191A>G (p.Gln4064Arg) rs2104199743
NM_001378454.1(ALMS1):c.12194A>G (p.Glu4065Gly)
NM_001378454.1(ALMS1):c.1219G>A (p.Ala407Thr) rs2103716227
NM_001378454.1(ALMS1):c.121G>A (p.Val41Met)
NM_001378454.1(ALMS1):c.12202C>A (p.Leu4068Met)
NM_001378454.1(ALMS1):c.12215T>C (p.Leu4072Ser) rs2104199857
NM_001378454.1(ALMS1):c.12217C>G (p.Gln4073Glu) rs774835325
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His) rs878854996
NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)
NM_001378454.1(ALMS1):c.12238T>C (p.Phe4080Leu) rs2104200019
NM_001378454.1(ALMS1):c.12241A>C (p.Asn4081His) rs1398267811
NM_001378454.1(ALMS1):c.12247G>C (p.Asp4083His) rs1675713916
NM_001378454.1(ALMS1):c.12265C>A (p.His4089Asn) rs2104200202
NM_001378454.1(ALMS1):c.1226C>G (p.Thr409Arg)
NM_001378454.1(ALMS1):c.12275G>T (p.Arg4092Leu) rs748624161
NM_001378454.1(ALMS1):c.12276C>T (p.Arg4092=)
NM_001378454.1(ALMS1):c.12298+3A>G
NM_001378454.1(ALMS1):c.12298+4C>T
NM_001378454.1(ALMS1):c.12298+6C>A
NM_001378454.1(ALMS1):c.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-3T>C rs1553422034
NM_001378454.1(ALMS1):c.12305T>A (p.Leu4102Gln)
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal) rs1553422036
NM_001378454.1(ALMS1):c.12314A>C (p.Gln4105Pro)
NM_001378454.1(ALMS1):c.12316A>G (p.Lys4106Glu)
NM_001378454.1(ALMS1):c.12322A>G (p.Lys4108Glu)
NM_001378454.1(ALMS1):c.12328A>G (p.Ile4110Val)
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
NM_001378454.1(ALMS1):c.12346A>T (p.Ile4116Phe)
NM_001378454.1(ALMS1):c.1234A>G (p.Thr412Ala)
NM_001378454.1(ALMS1):c.12359A>G (p.Lys4120Arg)
NM_001378454.1(ALMS1):c.12360A>T (p.Lys4120Asn) rs2104203046
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
NM_001378454.1(ALMS1):c.12362+3A>G
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1236C>T (p.Thr412=)
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.1237+4A>G rs747868844
NM_001378454.1(ALMS1):c.1238-11C>G rs1553400951
NM_001378454.1(ALMS1):c.1238-11C>T rs1553400951
NM_001378454.1(ALMS1):c.1238-12C>T
NM_001378454.1(ALMS1):c.1238-13T>A
NM_001378454.1(ALMS1):c.12382G>A (p.Glu4128Lys)
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu) rs371587051
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs) rs776401197
NM_001378454.1(ALMS1):c.12394_12397dup (p.Arg4133fs) rs776401197
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del) rs764575993
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile) rs1670514979
NM_001378454.1(ALMS1):c.12400G>A (p.Glu4134Lys)
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.12416A>C (p.Lys4139Thr)
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
NM_001378454.1(ALMS1):c.12424T>C (p.Tyr4142His) rs954710649
NM_001378454.1(ALMS1):c.12425A>T (p.Tyr4142Phe) rs775032572
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
NM_001378454.1(ALMS1):c.12443G>A (p.Arg4148Gln)
NM_001378454.1(ALMS1):c.1244T>C (p.Leu415Pro)
NM_001378454.1(ALMS1):c.12455A>T (p.Tyr4152Phe)
NM_001378454.1(ALMS1):c.1245G>C (p.Leu415=)
NM_001378454.1(ALMS1):c.12460_12461del (p.Lys4154fs)
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs) rs1553422659
NM_001378454.1(ALMS1):c.12462+1G>T
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12462+3C>T rs1553422676
NM_001378454.1(ALMS1):c.12462+5G>A rs1553422678
NM_001378454.1(ALMS1):c.12462+6T>C rs2104216517
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-11_12463-7del rs1553422758
NM_001378454.1(ALMS1):c.12463-1G>C
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.12466G>A (p.Val4156Met)
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1249G>A (p.Gly417Arg)
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
NM_001378454.1(ALMS1):c.12507A>G (p.Ter4169Trp)
NM_001378454.1(ALMS1):c.1254G>A (p.Lys418=)
NM_001378454.1(ALMS1):c.1254G>T (p.Lys418Asn)
NM_001378454.1(ALMS1):c.1255G>T (p.Val419Phe) rs1671381064
NM_001378454.1(ALMS1):c.1256T>G (p.Val419Gly)
NM_001378454.1(ALMS1):c.1259A>C (p.Glu420Ala)
NM_001378454.1(ALMS1):c.125T>A (p.Val42Asp) rs1337322908
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn) rs886056297
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu) rs1396189205
NM_001378454.1(ALMS1):c.1267G>C (p.Val423Leu) rs45630557
NM_001378454.1(ALMS1):c.1297G>T (p.Ala433Ser) rs751744947
NM_001378454.1(ALMS1):c.1313A>C (p.Glu438Ala) rs753799992
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=) rs886056298
NM_001378454.1(ALMS1):c.1336A>C (p.Lys446Gln)
NM_001378454.1(ALMS1):c.1338+3G>A
NM_001378454.1(ALMS1):c.1339-16A>T
NM_001378454.1(ALMS1):c.1339-20C>T rs1553401589
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-5A>T rs373469023
NM_001378454.1(ALMS1):c.1339-6C>T rs1553401597
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.133G>A (p.Glu45Lys)
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg) rs886056299
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.1343C>T (p.Thr448Ile)
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
NM_001378454.1(ALMS1):c.135G>T (p.Glu45Asp)
NM_001378454.1(ALMS1):c.135_143del (p.43VEE[1])
NM_001378454.1(ALMS1):c.135_143dup (p.Glu48_Glu49insValGluGlu)
NM_001378454.1(ALMS1):c.1360C>T (p.His454Tyr)
NM_001378454.1(ALMS1):c.1364C>G (p.Ser455Cys)
NM_001378454.1(ALMS1):c.1369G>T (p.Asp457Tyr) rs1671513924
NM_001378454.1(ALMS1):c.137T>C (p.Val46Ala)
NM_001378454.1(ALMS1):c.137_139del (p.Val46del) rs1553396198
NM_001378454.1(ALMS1):c.137_145dup (p.43VEE[3]) rs1286794312
NM_001378454.1(ALMS1):c.1386G>T (p.Arg462Ser) rs749794703
NM_001378454.1(ALMS1):c.1393C>T (p.Pro465Ser)
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=)
NM_001378454.1(ALMS1):c.1426_1431del (p.Lys476_Ala477del) rs1553401631
NM_001378454.1(ALMS1):c.142G>C (p.Glu48Gln)
NM_001378454.1(ALMS1):c.1431A>G (p.Ala477=)
NM_001378454.1(ALMS1):c.1433-14C>A rs1553403232
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly) rs1671839144
NM_001378454.1(ALMS1):c.1448G>C (p.Gly483Ala)
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=) rs1670515874
NM_001378454.1(ALMS1):c.1451G>C (p.Gly484Ala)
NM_001378454.1(ALMS1):c.1451G>T (p.Gly484Val)
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn) rs1671840179
NM_001378454.1(ALMS1):c.148_149delinsAA (p.Ala50Lys) rs2104058681
NM_001378454.1(ALMS1):c.1495A>G (p.Thr499Ala) rs2103771259
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly)
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala) rs1553403257
NM_001378454.1(ALMS1):c.1521A>G (p.Gly507=)
NM_001378454.1(ALMS1):c.1540C>T (p.Leu514Phe) rs2103771365
NM_001378454.1(ALMS1):c.1552T>C (p.Ser518Pro)
NM_001378454.1(ALMS1):c.1556A>G (p.Gln519Arg) rs2103771395
NM_001378454.1(ALMS1):c.1559T>G (p.Leu520Trp)
NM_001378454.1(ALMS1):c.1562C>G (p.Ala521Gly)
NM_001378454.1(ALMS1):c.1564G>A (p.Val522Ile)
NM_001378454.1(ALMS1):c.1568G>A (p.Ser523Asn)
NM_001378454.1(ALMS1):c.157G>A (p.Glu53Lys) rs2104058756
NM_001378454.1(ALMS1):c.1589C>G (p.Thr530Ser)
NM_001378454.1(ALMS1):c.1591G>A (p.Gly531Ser)
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.161T>C (p.Leu54Ser) rs755760721
NM_001378454.1(ALMS1):c.1630G>A (p.Asp544Asn) rs1267086121
NM_001378454.1(ALMS1):c.163G>A (p.Asp55Asn)
NM_001378454.1(ALMS1):c.1667C>G (p.Ala556Gly) rs2103771804
NM_001378454.1(ALMS1):c.167C>G (p.Ser56Cys) rs2104058882
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr) rs776104521
NM_001378454.1(ALMS1):c.1682C>G (p.Ala561Gly)
NM_001378454.1(ALMS1):c.1699A>G (p.Thr567Ala)
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg) rs752312999
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=) rs886056300
NM_001378454.1(ALMS1):c.1705A>G (p.Thr569Ala) rs1671846580
NM_001378454.1(ALMS1):c.1707A>T (p.Thr569=)
NM_001378454.1(ALMS1):c.171C>G (p.Asp57Glu) rs2104058944
NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer) rs1064795650
NM_001378454.1(ALMS1):c.1729C>T (p.His577Tyr) rs1671847160
NM_001378454.1(ALMS1):c.1736G>T (p.Gly579Val) rs2103772041
NM_001378454.1(ALMS1):c.1737G>T (p.Gly579=)
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
NM_001378454.1(ALMS1):c.1754A>C (p.Tyr585Ser)
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His) rs1553403313
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg) rs2103772175
NM_001378454.1(ALMS1):c.1792G>A (p.Ala598Thr) rs776537010
NM_001378454.1(ALMS1):c.1807G>A (p.Ala603Thr) rs745501026
NM_001378454.1(ALMS1):c.1807G>T (p.Ala603Ser)
NM_001378454.1(ALMS1):c.1813C>T (p.Pro605Ser) rs1671849058
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg) rs1553403321
NM_001378454.1(ALMS1):c.1828C>G (p.Gln610Glu)
NM_001378454.1(ALMS1):c.1832C>G (p.Thr611Arg) rs1382642304
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn) rs2103772404
NM_001378454.1(ALMS1):c.1847C>T (p.Thr616Ile) rs2103772456
NM_001378454.1(ALMS1):c.184C>T (p.Pro62Ser)
NM_001378454.1(ALMS1):c.1852A>G (p.Thr618Ala)
NM_001378454.1(ALMS1):c.1854_1856dup (p.Ser619_Thr620insSer)
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser) rs1447523847
NM_001378454.1(ALMS1):c.1862C>T (p.Ser621Phe)
NM_001378454.1(ALMS1):c.1899A>T (p.Gln633His)
NM_001378454.1(ALMS1):c.1901A>G (p.Gln634Arg)
NM_001378454.1(ALMS1):c.1905G>C (p.Glu635Asp)
NM_001378454.1(ALMS1):c.1906T>C (p.Leu636=) rs2103772724
NM_001378454.1(ALMS1):c.1909C>A (p.Pro637Thr)
NM_001378454.1(ALMS1):c.1909C>T (p.Pro637Ser) rs2103772730
NM_001378454.1(ALMS1):c.1912G>A (p.Glu638Lys)
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala) rs146234123
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp) rs768031771
NM_001378454.1(ALMS1):c.1950T>C (p.Ala650=)
NM_001378454.1(ALMS1):c.1955C>G (p.Pro652Arg)
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu) rs2103772890
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=) rs1553403345
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys)
NM_001378454.1(ALMS1):c.1990G>T (p.Val664Leu) rs754619355
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala) rs28730850
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg) rs1670519049
NM_001378454.1(ALMS1):c.1A>C (p.Met1Leu)
NM_001378454.1(ALMS1):c.1A>G (p.Met1Val) rs1429891881
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg) rs1558647685
NM_001378454.1(ALMS1):c.2021A>G (p.Asp674Gly)
NM_001378454.1(ALMS1):c.2026C>G (p.Leu676Val)
NM_001378454.1(ALMS1):c.2029T>G (p.Phe677Val)
NM_001378454.1(ALMS1):c.203T>C (p.Ile68Thr) rs765378599
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet) rs1553396244
NM_001378454.1(ALMS1):c.2057G>A (p.Gly686Asp)
NM_001378454.1(ALMS1):c.2065A>C (p.Thr689Pro)
NM_001378454.1(ALMS1):c.2071C>A (p.Gln691Lys) rs752875933
NM_001378454.1(ALMS1):c.2074G>T (p.Ala692Ser) rs1309166073
NM_001378454.1(ALMS1):c.2083G>A (p.Val695Ile)
NM_001378454.1(ALMS1):c.208G>A (p.Asp70Asn) rs2104059373
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del) rs1671856599
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala) rs886056301
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg) rs1671857463
NM_001378454.1(ALMS1):c.211G>C (p.Glu71Gln) rs757131983
NM_001378454.1(ALMS1):c.2120G>A (p.Gly707Glu) rs1427149217
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=) rs878854997
NM_001378454.1(ALMS1):c.2126C>T (p.Ala709Val) rs2103773702
NM_001378454.1(ALMS1):c.2129C>G (p.Thr710Arg)
NM_001378454.1(ALMS1):c.2130A>T (p.Thr710=)
NM_001378454.1(ALMS1):c.2131G>A (p.Val711Ile) rs747790543
NM_001378454.1(ALMS1):c.2136C>G (p.Leu712=)
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro) rs1248095655
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
NM_001378454.1(ALMS1):c.2147A>G (p.His716Arg)
NM_001378454.1(ALMS1):c.2153A>T (p.His718Leu) rs1182404684
NM_001378454.1(ALMS1):c.2170A>G (p.Ile724Val) rs1671859518
NM_001378454.1(ALMS1):c.2177A>C (p.Tyr726Ser)
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.218A>C (p.Asp73Ala)
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2203C>G (p.Gln735Glu)
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del) rs1671861000
NM_001378454.1(ALMS1):c.220_228dup (p.Glu74_Ala76dup) rs762635802
NM_001378454.1(ALMS1):c.2215A>T (p.Thr739Ser) rs2103774232
NM_001378454.1(ALMS1):c.2218C>G (p.Leu740Val)
NM_001378454.1(ALMS1):c.2218C>T (p.Leu740Phe)
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile) rs758047046
NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=)
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu) rs1046271130
NM_001378454.1(ALMS1):c.2230T>G (p.Ser744Ala) rs2103774349
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
NM_001378454.1(ALMS1):c.2248G>T (p.Ala750Ser)
NM_001378454.1(ALMS1):c.2249C>T (p.Ala750Val) rs2103774445
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
NM_001378454.1(ALMS1):c.2260A>T (p.Thr754Ser) rs781628262
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2281T>G (p.Ser761Ala)
NM_001378454.1(ALMS1):c.2284A>G (p.Ser762Gly)
NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys)
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del) rs2103774407
NM_001378454.1(ALMS1):c.2306A>G (p.Lys769Arg)
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn) rs2103774719
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val) rs756716132
NM_001378454.1(ALMS1):c.2350C>A (p.Pro784Thr)
NM_001378454.1(ALMS1):c.2358G>T (p.Glu786Asp) rs2103774906
NM_001378454.1(ALMS1):c.2359G>A (p.Gly787Ser)
NM_001378454.1(ALMS1):c.2366A>C (p.Lys789Thr)
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro) rs1181372708
NM_001378454.1(ALMS1):c.2410C>G (p.Pro804Ala) rs1391556218
NM_001378454.1(ALMS1):c.2411C>A (p.Pro804Gln) rs2103775015
NM_001378454.1(ALMS1):c.2414C>G (p.Thr805Arg) rs1671867434
NM_001378454.1(ALMS1):c.241C>G (p.Gln81Glu) rs778264668
NM_001378454.1(ALMS1):c.2423C>T (p.Ser808Phe) rs1389525541
NM_001378454.1(ALMS1):c.2431T>C (p.Tyr811His)
NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro)
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys) rs370978261
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2476C>A (p.Leu826Met) rs2103775303
NM_001378454.1(ALMS1):c.2478_2479delinsCT (p.Asp827Tyr)
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
NM_001378454.1(ALMS1):c.2500G>T (p.Ala834Ser)
NM_001378454.1(ALMS1):c.2503C>G (p.Leu835Val) rs2103775468
NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
NM_001378454.1(ALMS1):c.2544T>G (p.Thr848=)
NM_001378454.1(ALMS1):c.2546G>A (p.Gly849Glu)
NM_001378454.1(ALMS1):c.2548A>G (p.Thr850Ala) rs1304119807
NM_001378454.1(ALMS1):c.254G>A (p.Gly85Asp) rs1574424065
NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr)
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2561C>G (p.Thr854Ser)
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
NM_001378454.1(ALMS1):c.256A>G (p.Arg86Gly)
NM_001378454.1(ALMS1):c.2570C>A (p.Ser857Tyr)
NM_001378454.1(ALMS1):c.2575G>C (p.Ala859Pro) rs2103775737
NM_001378454.1(ALMS1):c.2596A>G (p.Lys866Glu) rs2103775820
NM_001378454.1(ALMS1):c.2615A>G (p.Gln872Arg) rs2103775891
NM_001378454.1(ALMS1):c.263T>C (p.Leu88Ser) rs2104059929
NM_001378454.1(ALMS1):c.2645A>G (p.Glu882Gly)
NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val)
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser) rs956834448
NM_001378454.1(ALMS1):c.2664A>C (p.Ser888=)
NM_001378454.1(ALMS1):c.2665A>T (p.Ile889Phe)
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu) rs1671874349
NM_001378454.1(ALMS1):c.2680G>T (p.Gly894Cys) rs374262388
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2684A>G (p.Asp895Gly)
NM_001378454.1(ALMS1):c.2687A>T (p.Gln896Leu) rs1671874811
NM_001378454.1(ALMS1):c.268C>T (p.Pro90Ser)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg) rs1671874954
NM_001378454.1(ALMS1):c.269C>T (p.Pro90Leu)
NM_001378454.1(ALMS1):c.2700A>G (p.Ile900Met)
NM_001378454.1(ALMS1):c.2702C>T (p.Pro901Leu) rs2103776209
NM_001378454.1(ALMS1):c.2721C>A (p.Phe907Leu) rs2103776271
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=) rs573325092
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.272T>A (p.Leu91Gln)
NM_001378454.1(ALMS1):c.2737A>G (p.Lys913Glu) rs2103776357
NM_001378454.1(ALMS1):c.2745T>G (p.Ile915Met) rs2103776397
NM_001378454.1(ALMS1):c.2746A>G (p.Ile916Val) rs1355707191
NM_001378454.1(ALMS1):c.2751T>A (p.Phe917Leu)
NM_001378454.1(ALMS1):c.2761A>G (p.Thr921Ala)
NM_001378454.1(ALMS1):c.2768C>G (p.Pro923Arg)
NM_001378454.1(ALMS1):c.2770G>C (p.Asp924His)
NM_001378454.1(ALMS1):c.277C>T (p.Pro93Ser)
NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr)
NM_001378454.1(ALMS1):c.2800G>T (p.Val934Phe)
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu) rs756153603
NM_001378454.1(ALMS1):c.280C>G (p.Pro94Ala) rs775431837
NM_001378454.1(ALMS1):c.281C>G (p.Pro94Arg)
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
NM_001378454.1(ALMS1):c.2820G>A (p.Leu940=)
NM_001378454.1(ALMS1):c.283C>A (p.Gln95Lys)
NM_001378454.1(ALMS1):c.2848G>A (p.Val950Met) rs370733145
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala) rs374139959
NM_001378454.1(ALMS1):c.284A>G (p.Gln95Arg)
NM_001378454.1(ALMS1):c.2863C>T (p.His955Tyr)
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
NM_001378454.1(ALMS1):c.2867C>T (p.Ser956Leu)
NM_001378454.1(ALMS1):c.2873G>A (p.Ser958Asn)
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
NM_001378454.1(ALMS1):c.2882C>G (p.Ser961Cys) rs2103776868
NM_001378454.1(ALMS1):c.2884A>G (p.Ser962Gly)
NM_001378454.1(ALMS1):c.2890T>G (p.Phe964Val) rs2103776905
NM_001378454.1(ALMS1):c.2894A>G (p.Tyr965Cys) rs1671879952
NM_001378454.1(ALMS1):c.2896C>G (p.Gln966Glu) rs761177629
NM_001378454.1(ALMS1):c.2898G>T (p.Gln966His) rs2103776938
NM_001378454.1(ALMS1):c.2907G>T (p.Leu969Phe)
NM_001378454.1(ALMS1):c.2914A>T (p.Ser972Cys)
NM_001378454.1(ALMS1):c.2930A>T (p.Glu977Val)
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile) rs757088179
NM_001378454.1(ALMS1):c.2950A>G (p.Ile984Val)
NM_001378454.1(ALMS1):c.2954C>T (p.Pro985Leu)
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.2974A>C (p.Thr992Pro) rs2103777146
NM_001378454.1(ALMS1):c.2981C>G (p.Pro994Arg)
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala) rs776162820
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
NM_001378454.1(ALMS1):c.3002G>A (p.Gly1001Asp) rs773630367
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
NM_001378454.1(ALMS1):c.3027C>T (p.Pro1009=)
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
NM_001378454.1(ALMS1):c.303C>T (p.Gly101=)
NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala) rs1553403605
NM_001378454.1(ALMS1):c.306G>T (p.Glu102Asp) rs2104060344
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp) rs1671884089
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro) rs72811915
NM_001378454.1(ALMS1):c.3091_3231del (p.Thr1031_Ser1077del)
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3117G>T (p.Lys1039Asn) rs748646844
NM_001378454.1(ALMS1):c.3127C>A (p.Pro1043Thr) rs376987487
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.3142A>G (p.Ser1048Gly) rs2103777784
NM_001378454.1(ALMS1):c.3143G>T (p.Ser1048Ile)
NM_001378454.1(ALMS1):c.3145T>A (p.Ser1049Thr)
NM_001378454.1(ALMS1):c.314C>A (p.Ser105Tyr) rs1328427718
NM_001378454.1(ALMS1):c.3166C>T (p.Pro1056Ser)
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly) rs750417761
NM_001378454.1(ALMS1):c.3169A>T (p.Ser1057Cys)
NM_001378454.1(ALMS1):c.3181C>T (p.Pro1061Ser) rs754651123
NM_001378454.1(ALMS1):c.319G>C (p.Glu107Gln)
NM_001378454.1(ALMS1):c.3202C>A (p.His1068Asn)
NM_001378454.1(ALMS1):c.3232G>C (p.Ala1078Pro) rs1249823614
NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)
NM_001378454.1(ALMS1):c.3236T>G (p.Phe1079Cys)
NM_001378454.1(ALMS1):c.3238C>T (p.Pro1080Ser)
NM_001378454.1(ALMS1):c.3239C>T (p.Pro1080Leu) rs1671888366
NM_001378454.1(ALMS1):c.324+4A>G rs1553396304
NM_001378454.1(ALMS1):c.324+5G>T
NM_001378454.1(ALMS1):c.324G>C (p.Lys108Asn)
NM_001378454.1(ALMS1):c.325-15_325-13del rs1553398832
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3254A>T (p.Gln1085Leu)
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.325A>G (p.Ile109Val)
NM_001378454.1(ALMS1):c.3260C>T (p.Thr1087Ile)
NM_001378454.1(ALMS1):c.3265A>G (p.Thr1089Ala)
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys) rs556855697
NM_001378454.1(ALMS1):c.3266C>T (p.Thr1089Ile) rs556855697
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
NM_001378454.1(ALMS1):c.3278C>A (p.Pro1093Gln)
NM_001378454.1(ALMS1):c.3284C>G (p.Thr1095Ser)
NM_001378454.1(ALMS1):c.328G>A (p.Val110Ile) rs2103675391
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro) rs1553403651
NM_001378454.1(ALMS1):c.3300A>C (p.Arg1100Ser)
NM_001378454.1(ALMS1):c.3320A>G (p.Tyr1107Cys)
NM_001378454.1(ALMS1):c.3331T>A (p.Leu1111Met)
NM_001378454.1(ALMS1):c.3350C>G (p.Pro1117Arg)
NM_001378454.1(ALMS1):c.3362T>C (p.Leu1121Pro)
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn) rs1254282900
NM_001378454.1(ALMS1):c.3386T>A (p.Leu1129Gln) rs2103778692
NM_001378454.1(ALMS1):c.3389C>G (p.Ala1130Gly)
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3399G>T (p.Lys1133Asn)
NM_001378454.1(ALMS1):c.3401C>G (p.Thr1134Ser)
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala) rs886056302
NM_001378454.1(ALMS1):c.3407C>G (p.Thr1136Arg)
NM_001378454.1(ALMS1):c.3409C>T (p.Pro1137Ser) rs2103778839
NM_001378454.1(ALMS1):c.3416T>C (p.Val1139Ala)
NM_001378454.1(ALMS1):c.3428C>T (p.Ser1143Phe)
NM_001378454.1(ALMS1):c.3436C>A (p.Gln1146Lys) rs2103778961
NM_001378454.1(ALMS1):c.3440A>T (p.His1147Leu)
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro) rs376302473
NM_001378454.1(ALMS1):c.3478C>T (p.Pro1160Ser) rs1164554577
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)
NM_001378454.1(ALMS1):c.3503C>T (p.Ala1168Val) rs2103779179
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn) rs1671897603
NM_001378454.1(ALMS1):c.3523A>G (p.Thr1175Ala) rs1321889913
NM_001378454.1(ALMS1):c.3547T>C (p.Trp1183Arg) rs2103779356
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3550A>T (p.Ile1184Leu)
NM_001378454.1(ALMS1):c.3552A>G (p.Ile1184Met) rs2103779378
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
NM_001378454.1(ALMS1):c.3566C>T (p.Ser1189Phe)
NM_001378454.1(ALMS1):c.3570C>T (p.Thr1190=)
NM_001378454.1(ALMS1):c.3574T>C (p.Tyr1192His) rs1553403697
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp) rs1553403697
NM_001378454.1(ALMS1):c.3575A>G (p.Tyr1192Cys)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.35_37dup (p.Leu12_Glu13insVal) rs1244345693
NM_001378454.1(ALMS1):c.360_361insTATCAAGTATATCAA (p.Ile120_Val121insTyrGlnValTyrGln) rs1553398843
NM_001378454.1(ALMS1):c.3610C>A (p.Gln1204Lys) rs2103779570
NM_001378454.1(ALMS1):c.3617T>C (p.Leu1206Ser)
NM_001378454.1(ALMS1):c.3631A>G (p.Ile1211Val)
NM_001378454.1(ALMS1):c.3635C>T (p.Pro1212Leu) rs747033635
NM_001378454.1(ALMS1):c.3644C>T (p.Ala1215Val)
NM_001378454.1(ALMS1):c.3664C>A (p.Leu1222Ile)
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
NM_001378454.1(ALMS1):c.3676_3693del (p.Asp1226_Thr1231del) rs2103779760
NM_001378454.1(ALMS1):c.3694C>T (p.Pro1232Ser)
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3701C>A (p.Pro1234Gln)
NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu)
NM_001378454.1(ALMS1):c.3703A>G (p.Thr1235Ala)
NM_001378454.1(ALMS1):c.3706T>A (p.Ser1236Thr)
NM_001378454.1(ALMS1):c.3706T>C (p.Ser1236Pro)
NM_001378454.1(ALMS1):c.3712T>G (p.Ser1238Ala)
NM_001378454.1(ALMS1):c.3725C>G (p.Thr1242Arg) rs1238618740
NM_001378454.1(ALMS1):c.3728A>G (p.Glu1243Gly)
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3734C>G (p.Pro1245Arg) rs1558648928
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu) rs1558648928
NM_001378454.1(ALMS1):c.3752A>G (p.Gln1251Arg)
NM_001378454.1(ALMS1):c.3755T>G (p.Val1252Gly)
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile) rs770278707
NM_001378454.1(ALMS1):c.3799G>C (p.Val1267Leu)
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
NM_001378454.1(ALMS1):c.3809A>G (p.Glu1270Gly)
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del) rs954466797
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile) rs1292358818
NM_001378454.1(ALMS1):c.3835C>T (p.Pro1279Ser) rs1422410913
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr) rs767729719
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro) rs767729719
NM_001378454.1(ALMS1):c.3838_4122del (p.Ala1280_Pro1374del) rs2103780150
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
NM_001378454.1(ALMS1):c.3850A>G (p.Thr1284Ala) rs1366506910
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser) rs2103780445
NM_001378454.1(ALMS1):c.3859T>C (p.Ser1287Pro)
NM_001378454.1(ALMS1):c.3874A>G (p.Lys1292Glu) rs2103780517
NM_001378454.1(ALMS1):c.387A>C (p.Gln129His)
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His) rs745335322
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu) rs769219669
NM_001378454.1(ALMS1):c.38A>G (p.Glu13Gly) rs1574423651
NM_001378454.1(ALMS1):c.3907A>G (p.Ser1303Gly)
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.3915T>C (p.His1305=)
NM_001378454.1(ALMS1):c.3920C>T (p.Thr1307Ile)
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
NM_001378454.1(ALMS1):c.3936_4220del (p.Ala1320_Pro1414del) rs2103780643
NM_001378454.1(ALMS1):c.3938T>C (p.Val1313Ala)
NM_001378454.1(ALMS1):c.3941C>T (p.Ser1314Leu) rs2103780749
NM_001378454.1(ALMS1):c.3961G>T (p.Asp1321Tyr) rs2103780841
NM_001378454.1(ALMS1):c.3963C>G (p.Asp1321Glu)
NM_001378454.1(ALMS1):c.3967A>G (p.Lys1323Glu)
NM_001378454.1(ALMS1):c.3970A>G (p.Thr1324Ala) rs1671910039
NM_001378454.1(ALMS1):c.3978A>G (p.Ile1326Met) rs2103780894
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile) rs1348003970
NM_001378454.1(ALMS1):c.3992C>T (p.Ser1331Phe)
NM_001378454.1(ALMS1):c.3999C>G (p.Phe1333Leu)
NM_001378454.1(ALMS1):c.4002C>T (p.Tyr1334=)
NM_001378454.1(ALMS1):c.4007A>G (p.His1336Arg) rs2103780957
NM_001378454.1(ALMS1):c.4012G>C (p.Glu1338Gln)
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp) rs1671911104
NM_001378454.1(ALMS1):c.4022G>C (p.Gly1341Ala)
NM_001378454.1(ALMS1):c.4024G>T (p.Val1342Phe)
NM_001378454.1(ALMS1):c.4025T>G (p.Val1342Gly) rs939609171
NM_001378454.1(ALMS1):c.4028T>C (p.Phe1343Ser)
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
NM_001378454.1(ALMS1):c.4045C>T (p.Pro1349Ser) rs1553403796
NM_001378454.1(ALMS1):c.4051A>T (p.Ser1351Cys) rs779496090
NM_001378454.1(ALMS1):c.4052G>A (p.Ser1351Asn)
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser) rs1005994594
NM_001378454.1(ALMS1):c.4060A>C (p.Thr1354Pro) rs1330377280
NM_001378454.1(ALMS1):c.4060A>G (p.Thr1354Ala) rs1330377280
NM_001378454.1(ALMS1):c.4082C>T (p.Ser1361Leu) rs2103781298
NM_001378454.1(ALMS1):c.4084G>T (p.Val1362Phe)
NM_001378454.1(ALMS1):c.4091C>T (p.Ser1364Phe)
NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly)
NM_001378454.1(ALMS1):c.410G>C (p.Cys137Ser)
NM_001378454.1(ALMS1):c.4110_4112dup (p.Thr1371dup) rs1448848361
NM_001378454.1(ALMS1):c.4115G>T (p.Gly1372Val)
NM_001378454.1(ALMS1):c.4118C>T (p.Thr1373Ile) rs1671914302
NM_001378454.1(ALMS1):c.4134_4418del (p.Thr1379_Ser1473del) rs2103781426
NM_001378454.1(ALMS1):c.4136C>T (p.Thr1379Ile)
NM_001378454.1(ALMS1):c.4150C>T (p.His1384Tyr) rs1228297685
NM_001378454.1(ALMS1):c.4151A>G (p.His1384Arg)
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr) rs1264554750
NM_001378454.1(ALMS1):c.4165A>G (p.Ser1389Gly) rs866496302
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met) rs1671916265
NM_001378454.1(ALMS1):c.4172T>C (p.Phe1391Ser)
NM_001378454.1(ALMS1):c.4175A>G (p.Tyr1392Cys)
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
NM_001378454.1(ALMS1):c.4213G>A (p.Ala1405Thr) rs1671917742
NM_001378454.1(ALMS1):c.4216A>G (p.Lys1406Glu)
NM_001378454.1(ALMS1):c.4223T>C (p.Val1408Ala) rs750124571
NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)
NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)
NM_001378454.1(ALMS1):c.4231G>A (p.Val1411Ile) rs1553403843
NM_001378454.1(ALMS1):c.4235C>T (p.Pro1412Leu)
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg)
NM_001378454.1(ALMS1):c.4243G>C (p.Gly1415Arg) rs2103781986
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.425C>T (p.Ala142Val) rs2103675826
NM_001378454.1(ALMS1):c.4265C>T (p.Pro1422Leu)
NM_001378454.1(ALMS1):c.4268C>T (p.Thr1423Ile)
NM_001378454.1(ALMS1):c.4286A>C (p.Tyr1429Ser) rs763136053
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala) rs1671920005
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
NM_001378454.1(ALMS1):c.4306G>A (p.Gly1436Ser) rs759249886
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
NM_001378454.1(ALMS1):c.4316A>G (p.Tyr1439Cys)
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr) rs746087402
NM_001378454.1(ALMS1):c.4338T>G (p.Ser1446Arg)
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile) rs1445707777
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe) rs373453289
NM_001378454.1(ALMS1):c.4375C>G (p.Pro1459Ala)
NM_001378454.1(ALMS1):c.4381C>A (p.Pro1461Thr) rs2103782534
NM_001378454.1(ALMS1):c.4388_4528del (p.Asp1463_Val1509del)
NM_001378454.1(ALMS1):c.4391A>G (p.Gln1464Arg)
NM_001378454.1(ALMS1):c.4391A>T (p.Gln1464Leu)
NM_001378454.1(ALMS1):c.43_44insGGG (p.Glu14_Glu15insGly) rs778948871
NM_001378454.1(ALMS1):c.43_44insTGGAGGAGGAGG (p.Glu14_Glu15insValGluGluGlu) rs1553396123
NM_001378454.1(ALMS1):c.4404A>G (p.Thr1468=)
NM_001378454.1(ALMS1):c.4415C>T (p.Thr1472Ile)
NM_001378454.1(ALMS1):c.4426A>G (p.Ser1476Gly)
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)
NM_001378454.1(ALMS1):c.4436G>T (p.Gly1479Val)
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
NM_001378454.1(ALMS1):c.4446C>T (p.Pro1482=)
NM_001378454.1(ALMS1):c.4459A>G (p.Lys1487Glu)
NM_001378454.1(ALMS1):c.446A>G (p.Asp149Gly) rs1671019702
NM_001378454.1(ALMS1):c.4478G>C (p.Gly1493Ala) rs1347210507
NM_001378454.1(ALMS1):c.4498C>T (p.Leu1500=)
NM_001378454.1(ALMS1):c.451-12A>G rs1274254541
NM_001378454.1(ALMS1):c.4535C>G (p.Thr1512Arg)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4546C>A (p.Pro1516Thr)
NM_001378454.1(ALMS1):c.4549A>G (p.Thr1517Ala) rs1572935497
NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)
NM_001378454.1(ALMS1):c.4554A>G (p.Ile1518Met)
NM_001378454.1(ALMS1):c.4558T>G (p.Ser1520Ala)
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys) rs1060500036
NM_001378454.1(ALMS1):c.4573_4716del (p.Gln1525_Ser1572del)
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
NM_001378454.1(ALMS1):c.4577A>G (p.His1526Arg) rs1164930753
NM_001378454.1(ALMS1):c.4599C>A (p.Phe1533Leu)
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.4606C>G (p.Leu1536Val) rs2103783328
NM_001378454.1(ALMS1):c.4609G>A (p.Ala1537Thr) rs2103783338
NM_001378454.1(ALMS1):c.4624C>G (p.Gln1542Glu) rs1671928724
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
NM_001378454.1(ALMS1):c.4642C>T (p.Leu1548Phe) rs2103783451
NM_001378454.1(ALMS1):c.4651T>G (p.Ser1551Ala)
NM_001378454.1(ALMS1):c.4667C>T (p.Pro1556Leu)
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala) rs1558649606
NM_001378454.1(ALMS1):c.4684G>A (p.Gly1562Ser) rs1671930409
NM_001378454.1(ALMS1):c.46_47insCGG (p.Glu15_Glu16insAla) rs1558624515
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala) rs2103783756
NM_001378454.1(ALMS1):c.4717T>C (p.Phe1573Leu) rs2103783780
NM_001378454.1(ALMS1):c.4720G>A (p.Gly1574Arg)
NM_001378454.1(ALMS1):c.4721G>C (p.Gly1574Ala)
NM_001378454.1(ALMS1):c.472C>T (p.Leu158Phe)
NM_001378454.1(ALMS1):c.4730C>A (p.Pro1577Gln) rs148568833
NM_001378454.1(ALMS1):c.4730C>T (p.Pro1577Leu)
NM_001378454.1(ALMS1):c.4733T>C (p.Ile1578Thr) rs2103783837
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
NM_001378454.1(ALMS1):c.4749G>T (p.Gln1583His) rs749067384
NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)
NM_001378454.1(ALMS1):c.4756C>T (p.Pro1586Ser) rs768373356
NM_001378454.1(ALMS1):c.4762G>A (p.Gly1588Ser)
NM_001378454.1(ALMS1):c.4763G>T (p.Gly1588Val)
NM_001378454.1(ALMS1):c.4764T>C (p.Gly1588=)
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
NM_001378454.1(ALMS1):c.4768C>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.4778A>G (p.Glu1593Gly)
NM_001378454.1(ALMS1):c.4792T>A (p.Ser1598Thr)
NM_001378454.1(ALMS1):c.4805G>A (p.Gly1602Glu)
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del) rs1057518311
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala) rs935791709
NM_001378454.1(ALMS1):c.4835C>T (p.Ala1612Val)
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile) rs375736124
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.4846G>A (p.Gly1616Ser)
NM_001378454.1(ALMS1):c.4847G>A (p.Gly1616Asp)
NM_001378454.1(ALMS1):c.4852A>G (p.Ser1618Gly) rs2103784176
NM_001378454.1(ALMS1):c.4864G>C (p.Glu1622Gln)
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile) rs1671237621
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile)
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
NM_001378454.1(ALMS1):c.4922T>A (p.Val1641Asp)
NM_001378454.1(ALMS1):c.4923_4925del (p.Val1642del)
NM_001378454.1(ALMS1):c.4936G>A (p.Ala1646Thr) rs1461831032
NM_001378454.1(ALMS1):c.4939G>T (p.Ala1647Ser) rs1671938334
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly) rs2103784552
NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)
NM_001378454.1(ALMS1):c.4947A>G (p.Gly1649=)
NM_001378454.1(ALMS1):c.4952C>T (p.Ala1651Val)
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu) rs2103701341
NM_001378454.1(ALMS1):c.4982A>C (p.His1661Pro)
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
NM_001378454.1(ALMS1):c.4999A>T (p.Asn1667Tyr)
NM_001378454.1(ALMS1):c.5001T>C (p.Asn1667=)
NM_001378454.1(ALMS1):c.5002A>G (p.Arg1668Gly) rs2103784813
NM_001378454.1(ALMS1):c.5004G>T (p.Arg1668Ser)
NM_001378454.1(ALMS1):c.5005G>A (p.Gly1669Arg)
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg)
NM_001378454.1(ALMS1):c.5045G>C (p.Ser1682Thr)
NM_001378454.1(ALMS1):c.5054C>T (p.Pro1685Leu)
NM_001378454.1(ALMS1):c.5056G>A (p.Glu1686Lys)
NM_001378454.1(ALMS1):c.5057A>G (p.Glu1686Gly) rs947249342
NM_001378454.1(ALMS1):c.5075C>T (p.Pro1692Leu)
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
NM_001378454.1(ALMS1):c.5090C>T (p.Pro1697Leu) rs2103785051
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr) rs1553404004
NM_001378454.1(ALMS1):c.5095G>T (p.Ala1699Ser) rs1553404004
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup) rs1491245339
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5114C>T (p.Pro1705Leu)
NM_001378454.1(ALMS1):c.5125T>G (p.Ser1709Ala)
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr) rs1671942849
NM_001378454.1(ALMS1):c.5140T>G (p.Tyr1714Asp)
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
NM_001378454.1(ALMS1):c.5165A>T (p.Tyr1722Phe)
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr) rs763052163
NM_001378454.1(ALMS1):c.517A>G (p.Thr173Ala)
NM_001378454.1(ALMS1):c.5180C>T (p.Pro1727Leu)
NM_001378454.1(ALMS1):c.5182G>A (p.Asp1728Asn)
NM_001378454.1(ALMS1):c.5186G>T (p.Ser1729Ile) rs2103785437
NM_001378454.1(ALMS1):c.5191C>G (p.Leu1731Val)
NM_001378454.1(ALMS1):c.5197C>G (p.Gln1733Glu)
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.51_52insAAGGAG (p.Glu17_Glu18insLysGlu) rs1553396125
NM_001378454.1(ALMS1):c.5203G>C (p.Ala1735Pro)
NM_001378454.1(ALMS1):c.5209A>G (p.Lys1737Glu) rs2103785554
NM_001378454.1(ALMS1):c.5216C>T (p.Ser1739Leu)
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5224C>G (p.Pro1742Ala)
NM_001378454.1(ALMS1):c.5243A>G (p.Lys1748Arg)
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del) rs2103785632
NM_001378454.1(ALMS1):c.5267C>T (p.Ser1756Phe)
NM_001378454.1(ALMS1):c.5273T>C (p.Phe1758Ser)
NM_001378454.1(ALMS1):c.5274C>A (p.Phe1758Leu) rs2103785773
NM_001378454.1(ALMS1):c.5284A>G (p.Thr1762Ala)
NM_001378454.1(ALMS1):c.528T>A (p.Asn176Lys)
NM_001378454.1(ALMS1):c.5294C>G (p.Pro1765Arg) rs1328622266
NM_001378454.1(ALMS1):c.5309A>G (p.Gln1770Arg) rs2103785989
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5314G>C (p.Glu1772Gln) rs2103786011
NM_001378454.1(ALMS1):c.5320C>T (p.Pro1774Ser) rs2103786033
NM_001378454.1(ALMS1):c.5327G>A (p.Ser1776Asn) rs182614909
NM_001378454.1(ALMS1):c.532A>G (p.Arg178Gly) rs2103701456
NM_001378454.1(ALMS1):c.5330A>G (p.His1777Arg)
NM_001378454.1(ALMS1):c.5345C>T (p.Ala1782Val)
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
NM_001378454.1(ALMS1):c.5365C>T (p.Pro1789Ser) rs1479555928
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg) rs1060499580
NM_001378454.1(ALMS1):c.5369G>T (p.Gly1790Val)
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5381A>G (p.Gln1794Arg)
NM_001378454.1(ALMS1):c.5386A>G (p.Thr1796Ala)
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala) rs1225146552
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
NM_001378454.1(ALMS1):c.5401G>A (p.Val1801Ile)
NM_001378454.1(ALMS1):c.5402T>C (p.Val1801Ala)
NM_001378454.1(ALMS1):c.5413T>C (p.Ser1805Pro)
NM_001378454.1(ALMS1):c.5414C>T (p.Ser1805Phe) rs2103786414
NM_001378454.1(ALMS1):c.5417A>C (p.Tyr1806Ser)
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.542A>G (p.Asp181Gly)
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
NM_001378454.1(ALMS1):c.5441T>C (p.Val1814Ala) rs2103786511
NM_001378454.1(ALMS1):c.5450A>G (p.Gln1817Arg)
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln) rs200925575
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5454A>C (p.Arg1818=)
NM_001378454.1(ALMS1):c.5464C>T (p.His1822Tyr)
NM_001378454.1(ALMS1):c.5480G>C (p.Gly1827Ala)
NM_001378454.1(ALMS1):c.5486A>C (p.Lys1829Thr)
NM_001378454.1(ALMS1):c.5488A>G (p.Ile1830Val)
NM_001378454.1(ALMS1):c.5488A>T (p.Ile1830Phe)
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del) rs2103786773
NM_001378454.1(ALMS1):c.5511T>C (p.Ala1837=)
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu) rs1252756270
NM_001378454.1(ALMS1):c.5533A>G (p.Ile1845Val)
NM_001378454.1(ALMS1):c.5539C>A (p.Pro1847Thr) rs752756030
NM_001378454.1(ALMS1):c.5539C>T (p.Pro1847Ser) rs752756030
NM_001378454.1(ALMS1):c.5559G>A (p.Gln1853=) rs886056303
NM_001378454.1(ALMS1):c.5566C>T (p.His1856Tyr)
NM_001378454.1(ALMS1):c.5570C>G (p.Ser1857Cys) rs375354717
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys) rs556743491
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.55_56insCGG (p.Glu18_Glu19insAla)
NM_001378454.1(ALMS1):c.5600A>G (p.Asp1867Gly)
NM_001378454.1(ALMS1):c.5612T>G (p.Val1871Gly)
NM_001378454.1(ALMS1):c.5623G>A (p.Ala1875Thr) rs768147561
NM_001378454.1(ALMS1):c.5641C>T (p.Pro1881Ser)
NM_001378454.1(ALMS1):c.5645C>T (p.Ala1882Val)
NM_001378454.1(ALMS1):c.564C>A (p.Pro188=)
NM_001378454.1(ALMS1):c.566C>T (p.Ser189Phe)
NM_001378454.1(ALMS1):c.5681G>T (p.Ser1894Ile)
NM_001378454.1(ALMS1):c.5687A>G (p.Tyr1896Cys)
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
NM_001378454.1(ALMS1):c.5698G>A (p.Glu1900Lys)
NM_001378454.1(ALMS1):c.5704G>A (p.Ala1902Thr) rs1254278225
NM_001378454.1(ALMS1):c.5709T>C (p.Ser1903=)
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys) rs1553404125
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu) rs1671960359
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
NM_001378454.1(ALMS1):c.574G>A (p.Glu192Lys)
NM_001378454.1(ALMS1):c.5752T>C (p.Leu1918=)
NM_001378454.1(ALMS1):c.5764G>T (p.Val1922Phe)
NM_001378454.1(ALMS1):c.5767G>A (p.Val1923Ile) rs772665115
NM_001378454.1(ALMS1):c.5771C>G (p.Pro1924Arg)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5800C>T (p.Pro1934Ser)
NM_001378454.1(ALMS1):c.5801C>T (p.Pro1934Leu)
NM_001378454.1(ALMS1):c.5806G>A (p.Val1936Ile)
NM_001378454.1(ALMS1):c.5809C>G (p.Pro1937Ala)
NM_001378454.1(ALMS1):c.5814A>C (p.Leu1938Phe) rs1432463036
NM_001378454.1(ALMS1):c.5815A>G (p.Ser1939Gly)
NM_001378454.1(ALMS1):c.5818T>G (p.Tyr1940Asp)
NM_001378454.1(ALMS1):c.5819A>C (p.Tyr1940Ser)
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys) rs374676136
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.5830A>G (p.Arg1944Gly)
NM_001378454.1(ALMS1):c.5831G>A (p.Arg1944Lys) rs2103787852
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile) rs1300252739
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val) rs140062566
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln) rs1671963819
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly) rs1464393698
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
NM_001378454.1(ALMS1):c.5881A>T (p.Thr1961Ser) rs1249655262
NM_001378454.1(ALMS1):c.5894T>G (p.Leu1965Arg)
NM_001378454.1(ALMS1):c.58G>A (p.Glu20Lys)
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.5912C>A (p.Ser1971Tyr)
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn) rs886056305
NM_001378454.1(ALMS1):c.5931G>T (p.Lys1977Asn)
NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser)
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg) rs1671966142
NM_001378454.1(ALMS1):c.5944A>G (p.Ile1982Val)
NM_001378454.1(ALMS1):c.5952_5954del (p.Ser1987del)
NM_001378454.1(ALMS1):c.5956_5957delinsGT (p.Ser1986Val) rs2103788302
NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys) rs757977017
NM_001378454.1(ALMS1):c.5968C>T (p.His1990Tyr)
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.5976T>G (p.His1992Gln) rs2103788393
NM_001378454.1(ALMS1):c.6004_6090dup (p.His2002_Val2030dup) rs2103788416
NM_001378454.1(ALMS1):c.6008T>C (p.Ile2003Thr)
NM_001378454.1(ALMS1):c.6009A>G (p.Ile2003Met)
NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly) rs886056306
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn) rs1671968768
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn) rs1671969063
NM_001378454.1(ALMS1):c.6025A>T (p.Thr2009Ser) rs2103788606
NM_001378454.1(ALMS1):c.6035C>G (p.Pro2012Arg) rs750993966
NM_001378454.1(ALMS1):c.6035C>T (p.Pro2012Leu)
NM_001378454.1(ALMS1):c.6041C>T (p.Ala2014Val)
NM_001378454.1(ALMS1):c.6056A>G (p.Tyr2019Cys)
NM_001378454.1(ALMS1):c.605_610del (p.Val202_Lys203del) rs1553399981
NM_001378454.1(ALMS1):c.6066A>G (p.Ile2022Met) rs780333829
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly) rs376120513
NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu) rs886056307
NM_001378454.1(ALMS1):c.6085A>T (p.Thr2029Ser) rs759478895
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
NM_001378454.1(ALMS1):c.6093T>G (p.Ile2031Met) rs2103788896
NM_001378454.1(ALMS1):c.6094G>A (p.Gly2032Arg) rs1671971419
NM_001378454.1(ALMS1):c.60_61insAAGGAG (p.Glu20_Glu21insLysGlu) rs2104057268
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln) rs1553396137
NM_001378454.1(ALMS1):c.6100A>G (p.Asn2034Asp) rs1206923047
NM_001378454.1(ALMS1):c.6107A>G (p.Gln2036Arg)
NM_001378454.1(ALMS1):c.6111G>T (p.Lys2037Asn)
NM_001378454.1(ALMS1):c.6112A>T (p.Thr2038Ser) rs369011755
NM_001378454.1(ALMS1):c.6123G>C (p.Gln2041His)
NM_001378454.1(ALMS1):c.6125C>T (p.Thr2042Ile)
NM_001378454.1(ALMS1):c.6134A>G (p.His2045Arg)
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr) rs886056308
NM_001378454.1(ALMS1):c.6143A>C (p.Tyr2048Ser) rs201162418
NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala) rs2103789073
NM_001378454.1(ALMS1):c.6152C>T (p.Thr2051Ile)
NM_001378454.1(ALMS1):c.6158A>T (p.Lys2053Met)
NM_001378454.1(ALMS1):c.6161C>G (p.Pro2054Arg)
NM_001378454.1(ALMS1):c.6164A>G (p.Asn2055Ser)
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile) rs772187394
NM_001378454.1(ALMS1):c.6168T>G (p.Ile2056Met) rs775610057
NM_001378454.1(ALMS1):c.6171A>T (p.Leu2057Phe) rs2103789184
NM_001378454.1(ALMS1):c.6182A>T (p.Gln2061Leu)
NM_001378454.1(ALMS1):c.6183G>T (p.Gln2061His)
NM_001378454.1(ALMS1):c.6192T>A (p.Asp2064Glu)
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys) rs2103789247
NM_001378454.1(ALMS1):c.6209G>T (p.Gly2070Val)
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro) rs1382952433
NM_001378454.1(ALMS1):c.6221T>G (p.Ile2074Ser)
NM_001378454.1(ALMS1):c.6226G>T (p.Ala2076Ser)
NM_001378454.1(ALMS1):c.6229G>C (p.Val2077Leu) rs779402813
NM_001378454.1(ALMS1):c.6232C>T (p.Pro2078Ser) rs1050140750
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6238C>G (p.Leu2080Val)
NM_001378454.1(ALMS1):c.624T>A (p.Asp208Glu) rs1671241779
NM_001378454.1(ALMS1):c.6254C>T (p.Thr2085Ile) rs1266867585
NM_001378454.1(ALMS1):c.6275C>G (p.Ser2092Cys) rs749180234
NM_001378454.1(ALMS1):c.6277A>G (p.Ser2093Gly) rs2103789537
NM_001378454.1(ALMS1):c.6292A>G (p.Arg2098Gly)
NM_001378454.1(ALMS1):c.6296_6301del (p.Glu2099_Ser2101delinsAla)
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu)
NM_001378454.1(ALMS1):c.6320A>G (p.Gln2107Arg)
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
NM_001378454.1(ALMS1):c.6328C>T (p.Pro2110Ser) rs1243321319
NM_001378454.1(ALMS1):c.632G>C (p.Cys211Ser)
NM_001378454.1(ALMS1):c.635C>T (p.Ser212Phe) rs2103701987
NM_001378454.1(ALMS1):c.6361G>T (p.Val2121Phe)
NM_001378454.1(ALMS1):c.6380C>T (p.Pro2127Leu) rs2103789910
NM_001378454.1(ALMS1):c.6397G>T (p.Val2133Leu)
NM_001378454.1(ALMS1):c.63_64insAAG (p.Glu21_Glu22insLys) rs905301935
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
NM_001378454.1(ALMS1):c.6409G>C (p.Ala2137Pro) rs2103789992
NM_001378454.1(ALMS1):c.6419G>C (p.Ser2140Thr) rs1671979572
NM_001378454.1(ALMS1):c.6422C>T (p.Ser2141Phe)
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6433C>G (p.Arg2145Gly)
NM_001378454.1(ALMS1):c.6448A>G (p.Ile2150Val)
NM_001378454.1(ALMS1):c.6455A>G (p.Tyr2152Cys)
NM_001378454.1(ALMS1):c.6455A>T (p.Tyr2152Phe)
NM_001378454.1(ALMS1):c.645A>G (p.Leu215=)
NM_001378454.1(ALMS1):c.646+3A>G rs1553399994
NM_001378454.1(ALMS1):c.646+4A>T rs1270489328
NM_001378454.1(ALMS1):c.646+5T>C rs1235104737
NM_001378454.1(ALMS1):c.647-3C>T rs1671310064
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6472G>A (p.Asp2158Asn) rs545636120
NM_001378454.1(ALMS1):c.6479A>G (p.His2160Arg) rs781245006
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal) rs1553396144
NM_001378454.1(ALMS1):c.6502A>G (p.Ile2168Val)
NM_001378454.1(ALMS1):c.650T>C (p.Ile217Thr)
NM_001378454.1(ALMS1):c.6514C>T (p.Leu2172Phe)
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala) rs907136479
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg) rs145953016
NM_001378454.1(ALMS1):c.653A>G (p.Gln218Arg)
NM_001378454.1(ALMS1):c.6550G>A (p.Val2184Ile)
NM_001378454.1(ALMS1):c.6566A>G (p.Tyr2189Cys)
NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg)
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
NM_001378454.1(ALMS1):c.6587A>G (p.Lys2196Arg) rs2103790737
NM_001378454.1(ALMS1):c.658A>G (p.Ser220Gly) rs2103710382
NM_001378454.1(ALMS1):c.6590T>G (p.Leu2197Arg) rs2103790750
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn) rs2103710395
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser) rs758379924
NM_001378454.1(ALMS1):c.6612G>T (p.Arg2204Ser)
NM_001378454.1(ALMS1):c.6615A>C (p.Leu2205=)
NM_001378454.1(ALMS1):c.6617T>G (p.Ile2206Arg) rs1671985244
NM_001378454.1(ALMS1):c.6627G>C (p.Leu2209Phe)
NM_001378454.1(ALMS1):c.6632C>A (p.Ser2211Tyr) rs1357695377
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
NM_001378454.1(ALMS1):c.6649A>G (p.Ser2217Gly)
NM_001378454.1(ALMS1):c.665C>T (p.Ala222Val)
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
NM_001378454.1(ALMS1):c.6668T>C (p.Leu2223Ser)
NM_001378454.1(ALMS1):c.6679G>A (p.Ala2227Thr)
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro) rs1671986679
NM_001378454.1(ALMS1):c.6688A>G (p.Arg2230Gly)
NM_001378454.1(ALMS1):c.6689G>C (p.Arg2230Thr) rs1671986841
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu) rs1553396142
NM_001378454.1(ALMS1):c.6706C>T (p.Pro2236Ser) rs200724860
NM_001378454.1(ALMS1):c.6716C>T (p.Ala2239Val)
NM_001378454.1(ALMS1):c.6717A>G (p.Ala2239=)
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=) rs1671987512
NM_001378454.1(ALMS1):c.6729T>A (p.Asp2243Glu)
NM_001378454.1(ALMS1):c.6731T>C (p.Val2244Ala) rs1671987655
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe) rs946232848
NM_001378454.1(ALMS1):c.6766G>C (p.Ala2256Pro)
NM_001378454.1(ALMS1):c.6770A>G (p.Lys2257Arg)
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val) rs748833907
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln)
NM_001378454.1(ALMS1):c.6799A>G (p.Met2267Val) rs142904692
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
NM_001378454.1(ALMS1):c.6803A>G (p.Glu2268Gly)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6816G>T (p.Met2272Ile) rs765233946
NM_001378454.1(ALMS1):c.6829T>C (p.Cys2277Arg) rs1671989930
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp) rs761713440
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe) rs886056309
NM_001378454.1(ALMS1):c.6848T>G (p.Leu2283Arg) rs1442336894
NM_001378454.1(ALMS1):c.6850G>C (p.Ala2284Pro)
NM_001378454.1(ALMS1):c.6853C>G (p.Arg2285Gly) rs375458331
NM_001378454.1(ALMS1):c.6854G>A (p.Arg2285His) rs6546839
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.6856T>C (p.Phe2286Leu)
NM_001378454.1(ALMS1):c.6858C>T (p.Phe2286=)
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro)
NM_001378454.1(ALMS1):c.6886C>G (p.Gln2296Glu) rs747355678
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala) rs2103710477
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala) rs1057523384
NM_001378454.1(ALMS1):c.68_69insAGA (p.Glu28_Ala29insGlu)
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGA (p.Glu25_Glu28dup) rs2104057317
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile) rs1671992482
NM_001378454.1(ALMS1):c.6916C>T (p.Pro2306Ser)
NM_001378454.1(ALMS1):c.6917C>G (p.Pro2306Arg)
NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr)
NM_001378454.1(ALMS1):c.6944A>T (p.Asp2315Val) rs2103792016
NM_001378454.1(ALMS1):c.6948G>T (p.Leu2316Phe)
NM_001378454.1(ALMS1):c.6968C>T (p.Thr2323Ile) rs1671994565
NM_001378454.1(ALMS1):c.6971A>G (p.Glu2324Gly)
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys) rs1006328829
NM_001378454.1(ALMS1):c.7000A>G (p.Lys2334Glu)
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val) rs771422712
NM_001378454.1(ALMS1):c.7006A>G (p.Ile2336Val)
NM_001378454.1(ALMS1):c.7007T>C (p.Ile2336Thr) rs746208159
NM_001378454.1(ALMS1):c.7007T>G (p.Ile2336Ser)
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys) rs373004988
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
NM_001378454.1(ALMS1):c.7031G>C (p.Cys2344Ser) rs148306148
NM_001378454.1(ALMS1):c.7084C>T (p.Pro2362Ser) rs2103792526
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.70_71insCGG (p.Glu23_Glu24insAla) rs1442274468
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn) rs781640600
NM_001378454.1(ALMS1):c.7105A>G (p.Lys2369Glu) rs2103792593
NM_001378454.1(ALMS1):c.710A>G (p.Glu237Gly) rs2103710589
NM_001378454.1(ALMS1):c.7111A>C (p.Ser2371Arg) rs2103792619
NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)
NM_001378454.1(ALMS1):c.7160_7161delinsGT (p.Val2387Gly) rs2103792865
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser) rs1553404408
NM_001378454.1(ALMS1):c.7175C>T (p.Pro2392Leu) rs1384040049
NM_001378454.1(ALMS1):c.7184G>A (p.Cys2395Tyr)
NM_001378454.1(ALMS1):c.718C>T (p.Pro240Ser)
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.719C>T (p.Pro240Leu)
NM_001378454.1(ALMS1):c.71_72insAGA (p.Glu28dup) rs2104057693
NM_001378454.1(ALMS1):c.7209TAT[1] (p.Ile2405del)
NM_001378454.1(ALMS1):c.7219A>G (p.Met2407Val) rs1198704030
NM_001378454.1(ALMS1):c.7227T>A (p.Thr2409=) rs768032353
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
NM_001378454.1(ALMS1):c.7250G>C (p.Ser2417Thr)
NM_001378454.1(ALMS1):c.7250G>T (p.Ser2417Ile)
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val) rs1672001133
NM_001378454.1(ALMS1):c.725C>A (p.Ser242Tyr)
NM_001378454.1(ALMS1):c.725C>G (p.Ser242Cys)
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly) rs886056310
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.728T>C (p.Leu243Ser) rs2103710678
NM_001378454.1(ALMS1):c.7298C>G (p.Pro2433Arg) rs2103793431
NM_001378454.1(ALMS1):c.72_73insAAG (p.Glu24_Glu25insLys) rs1553396155
NM_001378454.1(ALMS1):c.7310A>T (p.Glu2437Val)
NM_001378454.1(ALMS1):c.7315G>C (p.Val2439Leu)
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp) rs886056311
NM_001378454.1(ALMS1):c.7332_7333insGGA (p.Leu2444_Asn2445insGly) rs2103793539
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys) rs766767334
NM_001378454.1(ALMS1):c.7361C>T (p.Thr2454Ile)
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
NM_001378454.1(ALMS1):c.7375A>G (p.Ser2459Gly)
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=) rs867561704
NM_001378454.1(ALMS1):c.737A>C (p.Gln246Pro) rs779584471
NM_001378454.1(ALMS1):c.7381G>C (p.Glu2461Gln)
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp) rs779815578
NM_001378454.1(ALMS1):c.7406A>G (p.Glu2469Gly)
NM_001378454.1(ALMS1):c.7407G>T (p.Glu2469Asp)
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val) rs1672005992
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp) rs1348368424
NM_001378454.1(ALMS1):c.7423A>G (p.Ser2475Gly) rs2103793967
NM_001378454.1(ALMS1):c.7430A>G (p.Asp2477Gly)
NM_001378454.1(ALMS1):c.7432T>G (p.Ser2478Ala) rs1672006362
NM_001378454.1(ALMS1):c.7439C>T (p.Ala2480Val) rs2103793995
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn)
NM_001378454.1(ALMS1):c.7448T>A (p.Val2483Glu)
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys) rs988216695
NM_001378454.1(ALMS1):c.7457T>C (p.Leu2486Pro)
NM_001378454.1(ALMS1):c.7463A>T (p.Gln2488Leu)
NM_001378454.1(ALMS1):c.7470A>C (p.Glu2490Asp) rs1180605370
NM_001378454.1(ALMS1):c.7492G>C (p.Glu2498Gln)
NM_001378454.1(ALMS1):c.749G>C (p.Ser250Thr) rs2103710757
NM_001378454.1(ALMS1):c.74_75insCGA (p.Glu24_Glu25insAsp) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGAGGAA (p.Glu25_Glu26insArgLys) rs1574423810
NM_001378454.1(ALMS1):c.74_75insGGAAGA (p.Glu27_Glu28dup) rs1491479006
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGA (p.Glu23_Glu28dup) rs1182322031
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGAGGA (p.Glu22_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGA (p.Glu28_Ala29insGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu19_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup) rs2104057327
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGluGluGluGluGluGluGlu)
NM_001378454.1(ALMS1):c.74_75insGGC (p.Glu25_Glu26insAla) rs1553396120
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr) rs202060439
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7532G>A (p.Arg2511Gln)
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn) rs757932553
NM_001378454.1(ALMS1):c.7540+3A>G
NM_001378454.1(ALMS1):c.7540+9A>T
NM_001378454.1(ALMS1):c.7541-11T>C
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7541-8C>A rs1553404629
NM_001378454.1(ALMS1):c.7547A>G (p.Asn2516Ser)
NM_001378454.1(ALMS1):c.7553A>G (p.Lys2518Arg)
NM_001378454.1(ALMS1):c.755C>T (p.Ala252Val) rs2103710779
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
NM_001378454.1(ALMS1):c.7564G>A (p.Ala2522Thr) rs2103797392
NM_001378454.1(ALMS1):c.7590A>G (p.Ser2530=)
NM_001378454.1(ALMS1):c.7598A>G (p.Asn2533Ser)
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del) rs1553396161
NM_001378454.1(ALMS1):c.75_77dup (p.Glu28dup) rs1553396161
NM_001378454.1(ALMS1):c.75_80dup (p.Glu27_Glu28dup) rs754175473
NM_001378454.1(ALMS1):c.7600G>A (p.Glu2534Lys)
NM_001378454.1(ALMS1):c.7604A>T (p.Asp2535Val)
NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met)
NM_001378454.1(ALMS1):c.762G>A (p.Leu254=)
NM_001378454.1(ALMS1):c.7639T>C (p.Leu2547=)
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val) rs200155429
NM_001378454.1(ALMS1):c.764+3A>G rs772334395
NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
NM_001378454.1(ALMS1):c.765-13TA[2] rs1553400662
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
NM_001378454.1(ALMS1):c.7658C>T (p.Thr2553Ile)
NM_001378454.1(ALMS1):c.7660A>G (p.Thr2554Ala)
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe) rs878855001
NM_001378454.1(ALMS1):c.7674+16G>A
NM_001378454.1(ALMS1):c.7674+3A>G rs1553404673
NM_001378454.1(ALMS1):c.7674+5A>G rs756532322
NM_001378454.1(ALMS1):c.7675-7C>T rs1553409573
NM_001378454.1(ALMS1):c.7675-8T>A rs1553409572
NM_001378454.1(ALMS1):c.7676G>T (p.Gly2559Val)
NM_001378454.1(ALMS1):c.7682A>G (p.Gln2561Arg)
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg) rs772417159
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
NM_001378454.1(ALMS1):c.7685G>A (p.Ser2562Asn) rs1672930739
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
NM_001378454.1(ALMS1):c.7690C>G (p.Arg2564Gly) rs554047243
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
NM_001378454.1(ALMS1):c.7691G>A (p.Arg2564Gln)
NM_001378454.1(ALMS1):c.76G>C (p.Glu26Gln)
NM_001378454.1(ALMS1):c.7709C>G (p.Pro2570Arg)
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
NM_001378454.1(ALMS1):c.7724G>C (p.Ser2575Thr)
NM_001378454.1(ALMS1):c.7729A>G (p.Ile2577Val)
NM_001378454.1(ALMS1):c.7732A>G (p.Ile2578Val)
NM_001378454.1(ALMS1):c.7735A>T (p.Ile2579Phe)
NM_001378454.1(ALMS1):c.7736T>C (p.Ile2579Thr)
NM_001378454.1(ALMS1):c.7738G>A (p.Glu2580Lys)
NM_001378454.1(ALMS1):c.7739A>G (p.Glu2580Gly) rs2103889306
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) rs543921060
NM_001378454.1(ALMS1):c.7742G>A (p.Ser2581Asn)
NM_001378454.1(ALMS1):c.7743C>A (p.Ser2581Arg) rs370740871
NM_001378454.1(ALMS1):c.7744C>T (p.His2582Tyr) rs2103889340
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu) rs776783409
NM_001378454.1(ALMS1):c.7752G>C (p.Lys2584Asn)
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=) rs1672933172
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His)
NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
NM_001378454.1(ALMS1):c.7772C>G (p.Thr2591Ser) rs2103889489
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser) rs1553409608
NM_001378454.1(ALMS1):c.7802C>A (p.Pro2601His) rs2103889598
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val) rs1220754616
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser) rs1672935406
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
NM_001378454.1(ALMS1):c.7825C>A (p.Pro2609Thr) rs2103889689
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys) rs1671339296
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.7844G>A (p.Gly2615Glu)
NM_001378454.1(ALMS1):c.7847G>A (p.Arg2616Gln)
NM_001378454.1(ALMS1):c.7854C>G (p.Asn2618Lys)
NM_001378454.1(ALMS1):c.7856C>G (p.Pro2619Arg) rs1672936863
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
NM_001378454.1(ALMS1):c.7870G>C (p.Ala2624Pro)
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln) rs940478567
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala) rs1672937962
NM_001378454.1(ALMS1):c.7898T>C (p.Leu2633Ser) rs2103889971
NM_001378454.1(ALMS1):c.7900G>T (p.Asp2634Tyr) rs201426207
NM_001378454.1(ALMS1):c.7901A>G (p.Asp2634Gly) rs1368206928
NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg)
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
NM_001378454.1(ALMS1):c.7927T>C (p.Trp2643Arg)
NM_001378454.1(ALMS1):c.793G>A (p.Glu265Lys)
NM_001378454.1(ALMS1):c.7940A>G (p.Gln2647Arg) rs2103890068
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg) rs567474729
NM_001378454.1(ALMS1):c.7957C>G (p.Pro2653Ala)
NM_001378454.1(ALMS1):c.7964A>G (p.Gln2655Arg)
NM_001378454.1(ALMS1):c.7969T>C (p.Phe2657Leu)
NM_001378454.1(ALMS1):c.7975C>T (p.Pro2659Ser)
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr) rs1672940448
NM_001378454.1(ALMS1):c.7997A>C (p.Lys2666Thr) rs2103890229
NM_001378454.1(ALMS1):c.7999G>C (p.Gly2667Arg)
NM_001378454.1(ALMS1):c.7C>T (p.Pro3Ser)
NM_001378454.1(ALMS1):c.8002C>T (p.Leu2668Phe)
NM_001378454.1(ALMS1):c.8017_8018delinsCC (p.Asp2673Pro) rs2103890304
NM_001378454.1(ALMS1):c.8018A>G (p.Asp2673Gly)
NM_001378454.1(ALMS1):c.8019T>A (p.Asp2673Glu)
NM_001378454.1(ALMS1):c.8021A>G (p.Glu2674Gly)
NM_001378454.1(ALMS1):c.8025G>C (p.Lys2675Asn) rs2103890339
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
NM_001378454.1(ALMS1):c.8028G>A (p.Met2676Ile)
NM_001378454.1(ALMS1):c.802T>C (p.Ser268Pro) rs2103714536
NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln)
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.8068C>G (p.Pro2690Ala)
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8089C>T (p.His2697Tyr) rs956487104
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg) rs761242664
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)
NM_001378454.1(ALMS1):c.8143A>G (p.Ile2715Val)
NM_001378454.1(ALMS1):c.8146A>C (p.Thr2716Pro) rs1234404032
NM_001378454.1(ALMS1):c.8150T>G (p.Phe2717Cys)
NM_001378454.1(ALMS1):c.8152T>C (p.Ser2718Pro)
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys) rs1572969357
NM_001378454.1(ALMS1):c.8167T>A (p.Ser2723Thr)
NM_001378454.1(ALMS1):c.816A>G (p.Glu272=)
NM_001378454.1(ALMS1):c.8183A>T (p.Asn2728Ile) rs886758563
NM_001378454.1(ALMS1):c.8197A>C (p.Lys2733Gln) rs1553409698
NM_001378454.1(ALMS1):c.8203G>C (p.Gly2735Arg) rs761136859
NM_001378454.1(ALMS1):c.820A>T (p.Ser274Cys)
NM_001378454.1(ALMS1):c.8215G>A (p.Gly2739Ser)
NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)
NM_001378454.1(ALMS1):c.8220C>A (p.Ser2740Arg) rs920410396
NM_001378454.1(ALMS1):c.8223G>T (p.Gln2741His)
NM_001378454.1(ALMS1):c.8225G>C (p.Cys2742Ser)
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
NM_001378454.1(ALMS1):c.8245G>A (p.Val2749Ile)
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala) rs2103891180
NM_001378454.1(ALMS1):c.8252A>G (p.Asn2751Ser)
NM_001378454.1(ALMS1):c.8254T>A (p.Ser2752Thr)
NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)
NM_001378454.1(ALMS1):c.8260T>A (p.Phe2754Ile)
NM_001378454.1(ALMS1):c.8266G>A (p.Glu2756Lys)
NM_001378454.1(ALMS1):c.8267A>G (p.Glu2756Gly)
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys) rs756042345
NM_001378454.1(ALMS1):c.8275A>T (p.Asn2759Tyr)
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8281C>T (p.Pro2761Ser)
NM_001378454.1(ALMS1):c.8290C>T (p.Leu2764Phe) rs2103891331
NM_001378454.1(ALMS1):c.8296C>G (p.Gln2766Glu)
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr) rs1245686264
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu) rs1572969570
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
NM_001378454.1(ALMS1):c.8328G>A (p.Met2776Ile)
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp) rs1672950651
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8350G>C (p.Glu2784Gln)
NM_001378454.1(ALMS1):c.8358_8363del (p.Ile2787_Leu2788del) rs1553409711
NM_001378454.1(ALMS1):c.8375G>A (p.Arg2792Lys)
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His)
NM_001378454.1(ALMS1):c.8387A>G (p.Gln2796Arg)
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His) rs770409935
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
NM_001378454.1(ALMS1):c.8413T>C (p.Ser2805Pro)
NM_001378454.1(ALMS1):c.8419C>A (p.Gln2807Lys) rs1314753569
NM_001378454.1(ALMS1):c.8426A>C (p.Glu2809Ala)
NM_001378454.1(ALMS1):c.8432C>G (p.Pro2811Arg)
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378454.1(ALMS1):c.8446G>T (p.Asp2816Tyr)
NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=) rs886056312
NM_001378454.1(ALMS1):c.847G>A (p.Glu283Lys) rs780066739
NM_001378454.1(ALMS1):c.8484A>C (p.Ala2828=)
NM_001378454.1(ALMS1):c.8485A>T (p.Asn2829Tyr)
NM_001378454.1(ALMS1):c.8491A>C (p.Ser2831Arg)
NM_001378454.1(ALMS1):c.8495A>C (p.Asn2832Thr)
NM_001378454.1(ALMS1):c.8495A>G (p.Asn2832Ser) rs2103892060
NM_001378454.1(ALMS1):c.8496T>A (p.Asn2832Lys)
NM_001378454.1(ALMS1):c.8501A>G (p.Lys2834Arg) rs1672955488
NM_001378454.1(ALMS1):c.850G>A (p.Val284Ile)
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
NM_001378454.1(ALMS1):c.8524C>G (p.His2842Asp) rs1553409736
NM_001378454.1(ALMS1):c.8539A>G (p.Met2847Val)
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
NM_001378454.1(ALMS1):c.8544C>A (p.Gly2848=)
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
NM_001378454.1(ALMS1):c.8555C>G (p.Ser2852Cys) rs2103892251
NM_001378454.1(ALMS1):c.8560_8580del (p.Leu2854_Ser2860del) rs2103892286
NM_001378454.1(ALMS1):c.8564_8565delinsAG (p.Gly2855Glu)
NM_001378454.1(ALMS1):c.8574A>C (p.Arg2858Ser) rs1489673662
NM_001378454.1(ALMS1):c.8576C>T (p.Ser2859Leu)
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8593G>T (p.Val2865Leu)
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
NM_001378454.1(ALMS1):c.8600A>C (p.Glu2867Ala)
NM_001378454.1(ALMS1):c.8611A>G (p.Thr2871Ala) rs2103892484
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val) rs1672958523
NM_001378454.1(ALMS1):c.8629C>T (p.Pro2877Ser) rs2103892547
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del) rs1553409754
NM_001378454.1(ALMS1):c.8636G>T (p.Cys2879Phe) rs747099151
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del) rs777935409
NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu)
NM_001378454.1(ALMS1):c.8658_8783del (p.Ser2891_Gln2932del)
NM_001378454.1(ALMS1):c.8669_8672delinsTCTCACT (p.Gln2890_Ser2891delinsLeuSerLeu)
NM_001378454.1(ALMS1):c.8677G>A (p.Ala2893Thr) rs2103892779
NM_001378454.1(ALMS1):c.8683C>A (p.Arg2895Ser) rs765969711
NM_001378454.1(ALMS1):c.8696A>G (p.His2899Arg)
NM_001378454.1(ALMS1):c.8699T>C (p.Val2900Ala) rs1672960979
NM_001378454.1(ALMS1):c.86C>A (p.Ala29Asp)
NM_001378454.1(ALMS1):c.870C>T (p.Ser290=)
NM_001378454.1(ALMS1):c.8710C>T (p.His2904Tyr)
NM_001378454.1(ALMS1):c.871A>G (p.Ser291Gly) rs2103714771
NM_001378454.1(ALMS1):c.8738A>T (p.Tyr2913Phe)
NM_001378454.1(ALMS1):c.8744C>T (p.Ala2915Val)
NM_001378454.1(ALMS1):c.8753T>G (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8753_8754delinsGA (p.Leu2918Arg)
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.875G>A (p.Arg292His)
NM_001378454.1(ALMS1):c.8770C>T (p.Leu2924Phe)
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
NM_001378454.1(ALMS1):c.8774AAC[1] (p.Gln2926del) rs2103893243
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=) rs1672963670
NM_001378454.1(ALMS1):c.8776C>A (p.Gln2926Lys)
NM_001378454.1(ALMS1):c.8778A>G (p.Gln2926=)
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val) rs751893253
NM_001378454.1(ALMS1):c.8804C>T (p.Ala2935Val)
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly) rs886056313
NM_001378454.1(ALMS1):c.8817T>A (p.Asp2939Glu)
NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)
NM_001378454.1(ALMS1):c.8824A>G (p.Met2942Val) rs2103893441
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp) rs1330910084
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8840C>T (p.Ser2947Phe)
NM_001378454.1(ALMS1):c.8861A>T (p.Asp2954Val) rs751940353
NM_001378454.1(ALMS1):c.8862T>G (p.Asp2954Glu)
NM_001378454.1(ALMS1):c.8884T>C (p.Ser2962Pro)
NM_001378454.1(ALMS1):c.8890A>C (p.Ile2964Leu) rs529506570
NM_001378454.1(ALMS1):c.8894C>G (p.Ser2965Cys) rs2103893808
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu) rs758433515
NM_001378454.1(ALMS1):c.8910A>C (p.Gln2970His) rs2103893881
NM_001378454.1(ALMS1):c.8910A>G (p.Gln2970=)
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly) rs746825059
NM_001378454.1(ALMS1):c.8934C>A (p.Asp2978Glu)
NM_001378454.1(ALMS1):c.893A>G (p.His298Arg)
NM_001378454.1(ALMS1):c.8950C>T (p.His2984Tyr)
NM_001378454.1(ALMS1):c.8951A>G (p.His2984Arg)
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His) rs1022866808
NM_001378454.1(ALMS1):c.8957C>T (p.Pro2986Leu) rs1022866808
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val) rs952528298
NM_001378454.1(ALMS1):c.895C>G (p.Pro299Ala)
NM_001378454.1(ALMS1):c.8963C>T (p.Pro2988Leu) rs1224152145
NM_001378454.1(ALMS1):c.8965C>G (p.Gln2989Glu)
NM_001378454.1(ALMS1):c.8967A>G (p.Gln2989=)
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu) rs199899389
NM_001378454.1(ALMS1):c.8977T>C (p.Cys2993Arg) rs2103894140
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met) rs1553409810
NM_001378454.1(ALMS1):c.8989A>C (p.Lys2997Gln)
NM_001378454.1(ALMS1):c.8990A>C (p.Lys2997Thr)
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del) rs1553409817
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu) rs755044727
NM_001378454.1(ALMS1):c.9009T>G (p.Pro3003=)
NM_001378454.1(ALMS1):c.9010A>G (p.Lys3004Glu)
NM_001378454.1(ALMS1):c.9012A>G (p.Lys3004=)
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.901A>G (p.Ile301Val) rs534913971
NM_001378454.1(ALMS1):c.9032A>G (p.Asn3011Ser) rs1672972439
NM_001378454.1(ALMS1):c.9049A>G (p.Asn3017Asp) rs1572970420
NM_001378454.1(ALMS1):c.9050A>T (p.Asn3017Ile)
NM_001378454.1(ALMS1):c.9053C>G (p.Thr3018Ser) rs2103894447
NM_001378454.1(ALMS1):c.9062C>G (p.Ser3021Cys)
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=) rs886056314
NM_001378454.1(ALMS1):c.908G>A (p.Ser303Asn)
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9116C>T (p.Ser3039Leu) rs1672974629
NM_001378454.1(ALMS1):c.9121A>G (p.Arg3041Gly) rs757177003
NM_001378454.1(ALMS1):c.9125A>C (p.Lys3042Thr)
NM_001378454.1(ALMS1):c.9127G>A (p.Ala3043Thr) rs373870241
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro) rs1300179474
NM_001378454.1(ALMS1):c.9134C>G (p.Ser3045Cys)
NM_001378454.1(ALMS1):c.9136T>C (p.Cys3046Arg)
NM_001378454.1(ALMS1):c.9139G>A (p.Val3047Ile)
NM_001378454.1(ALMS1):c.9140T>G (p.Val3047Gly)
NM_001378454.1(ALMS1):c.9149C>A (p.Thr3050Asn) rs2103894928
NM_001378454.1(ALMS1):c.9149C>G (p.Thr3050Ser)
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly) rs1672975660
NM_001378454.1(ALMS1):c.9155G>C (p.Cys3052Ser)
NM_001378454.1(ALMS1):c.9157C>G (p.Pro3053Ala) rs1672976080
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu) rs768273806
NM_001378454.1(ALMS1):c.9160A>G (p.Lys3054Glu)
NM_001378454.1(ALMS1):c.9170_9190dup (p.Ser3057_Thr3063dup) rs1455775922
NM_001378454.1(ALMS1):c.9185G>A (p.Gly3062Glu)
NM_001378454.1(ALMS1):c.9194A>C (p.Asp3065Ala)
NM_001378454.1(ALMS1):c.91GCG[3] (p.Ala34_Ala35del) rs746896173
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
NM_001378454.1(ALMS1):c.920G>A (p.Gly307Glu) rs2103714961
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe) rs886056315
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
NM_001378454.1(ALMS1):c.9242G>T (p.Ser3081Ile) rs750425368
NM_001378454.1(ALMS1):c.925C>G (p.Gln309Glu) rs1558639213
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr) rs1672978412
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile) rs1320008798
NM_001378454.1(ALMS1):c.9292A>G (p.Thr3098Ala) rs1280854716
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn) rs1553409866
NM_001378454.1(ALMS1):c.9320T>A (p.Val3107Glu)
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro) rs1572970696
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe) rs759935236
NM_001378454.1(ALMS1):c.9353G>A (p.Gly3118Glu) rs1672980678
NM_001378454.1(ALMS1):c.9367C>A (p.Leu3123Met) rs751613156
NM_001378454.1(ALMS1):c.9371A>G (p.Asp3124Gly)
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.9380T>C (p.Val3127Ala) rs2103895825
NM_001378454.1(ALMS1):c.9382G>T (p.Val3128Leu) rs764937531
NM_001378454.1(ALMS1):c.9389C>T (p.Pro3130Leu)
NM_001378454.1(ALMS1):c.9394C>T (p.Leu3132Phe)
NM_001378454.1(ALMS1):c.9398C>G (p.Pro3133Arg)
NM_001378454.1(ALMS1):c.9401A>G (p.Asp3134Gly)
NM_001378454.1(ALMS1):c.9409A>G (p.Thr3137Ala)
NM_001378454.1(ALMS1):c.9410C>G (p.Thr3137Ser) rs775701628
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val) rs767987000
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu) rs767987000
NM_001378454.1(ALMS1):c.9484A>G (p.Ile3162Val)
NM_001378454.1(ALMS1):c.9490G>A (p.Asp3164Asn) rs2103896409
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg) rs746440819
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
NM_001378454.1(ALMS1):c.950A>G (p.Gln317Arg)
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=) rs563393715
NM_001378454.1(ALMS1):c.9539+11T>C
NM_001378454.1(ALMS1):c.9540-15C>A rs780375594
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9547_9549del (p.Glu3183del) rs1553412739
NM_001378454.1(ALMS1):c.9554T>C (p.Met3185Thr) rs2103961851
NM_001378454.1(ALMS1):c.9555G>A (p.Met3185Ile)
NM_001378454.1(ALMS1):c.9566T>C (p.Leu3189Pro)
NM_001378454.1(ALMS1):c.956A>G (p.Asn319Ser)
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)
NM_001378454.1(ALMS1):c.9598G>T (p.Ala3200Ser)
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del) rs762803723
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378454.1(ALMS1):c.9629A>G (p.Glu3210Gly)
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn) rs373013570
NM_001378454.1(ALMS1):c.9654T>G (p.Ile3218Met)
NM_001378454.1(ALMS1):c.9658A>G (p.Ile3220Val) rs760370290
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
NM_001378454.1(ALMS1):c.9662A>G (p.Asn3221Ser) rs1673639492
NM_001378454.1(ALMS1):c.9673C>G (p.Arg3225Gly) rs200215551
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu) rs1673640308
NM_001378454.1(ALMS1):c.9684A>C (p.Glu3228Asp)
NM_001378454.1(ALMS1):c.968C>G (p.Thr323Ser)
NM_001378454.1(ALMS1):c.9691G>A (p.Glu3231Lys)
NM_001378454.1(ALMS1):c.9697G>C (p.Gly3233Arg) rs757474886
NM_001378454.1(ALMS1):c.9700A>G (p.Asn3234Asp) rs1673641556
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)
NM_001378454.1(ALMS1):c.970A>G (p.Ile324Val)
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr) rs746680944
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
NM_001378454.1(ALMS1):c.973T>C (p.Ser325Pro)
NM_001378454.1(ALMS1):c.9742T>C (p.Ser3248Pro)
NM_001378454.1(ALMS1):c.9743C>G (p.Ser3248Cys)
NM_001378454.1(ALMS1):c.9748_9749insCTC (p.Val3250delinsAlaLeu)
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro) rs766127195
NM_001378454.1(ALMS1):c.976T>C (p.Ser326Pro)
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys) rs769100528
NM_001378454.1(ALMS1):c.9773G>A (p.Gly3258Asp)
NM_001378454.1(ALMS1):c.9778G>A (p.Asp3260Asn)
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001378454.1(ALMS1):c.9781+5G>C rs1553412803
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp) rs2103991983
NM_001378454.1(ALMS1):c.9785delinsGGCC (p.Gln3262delinsArgPro)
NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu) rs551032553
NM_001378454.1(ALMS1):c.9814G>A (p.Gly3272Ser) rs1673993273
NM_001378454.1(ALMS1):c.9823A>G (p.Lys3275Glu)
NM_001378454.1(ALMS1):c.9826A>G (p.Met3276Val)
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys) rs1673993582
NM_001378454.1(ALMS1):c.9860C>T (p.Pro3287Leu)
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
NM_001378454.1(ALMS1):c.9907+5T>G rs1553414096
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9908-6C>G rs1553416191
NM_001378454.1(ALMS1):c.9911C>A (p.Ser3304Tyr)
NM_001378454.1(ALMS1):c.9911C>G (p.Ser3304Cys) rs2104034683
NM_001378454.1(ALMS1):c.9917A>G (p.Asp3306Gly) rs746138259
NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val)
NM_001378454.1(ALMS1):c.991A>G (p.Lys331Glu) rs2103715291
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
NM_001378454.1(ALMS1):c.9932A>C (p.Asp3311Ala) rs1553416202
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn) rs1671344444
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
NM_001378454.1(ALMS1):c.9962A>T (p.Asp3321Val)
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly) rs1573013147
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr) rs201213079
NM_001378454.1(ALMS1):c.9980C>T (p.Thr3327Ile)
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys) rs1886838397
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg) rs1197672891
NM_001378615.1(CC2D2A):c.-178T>C rs886059135
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001378615.1(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001378615.1(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001378615.1(CC2D2A):c.2486+9T>C rs768382177
NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val) rs376403848
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln) rs863225178
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln) rs746926711
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr) rs1719718448
NM_001378615.1(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3398+13T>C rs886059183
NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001378615.1(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys) rs1720848250
NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn) rs1407804611
NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu) rs1485264498
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=) rs1721486758
NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe) rs1178676096
NM_001378789.1(CERS3):c.632A>T (p.His211Leu)
NM_001379180.1(ESRRB):c.*1519G>A rs1890600056
NM_001379180.1(ESRRB):c.*2721A>G rs1890645532
NM_001379180.1(ESRRB):c.*2945C>A rs886050809
NM_001379180.1(ESRRB):c.*2953C>T rs753110550
NM_001379180.1(ESRRB):c.*3372G>C rs886050812
NM_001379180.1(ESRRB):c.1236G>A (p.Lys412=) rs1890514228
NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser) rs373173218
NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu) rs1887826180
NM_001379180.1(ESRRB):c.50+27963T>C rs886050804
NM_001379180.1(ESRRB):c.50+27968G>A rs1886083225
NM_001379180.1(ESRRB):c.50+28005T>C rs953298160
NM_001379180.1(ESRRB):c.578-4A>G rs753495127
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) rs886050806
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) rs1595163029
NM_001379286.1(ZNF423):c.1041C>A (p.Tyr347Ter) rs2151886352
NM_001379286.1(ZNF423):c.1061G>A (p.Arg354Gln)
NM_001379286.1(ZNF423):c.1061G>C (p.Arg354Pro) rs753225898
NM_001379286.1(ZNF423):c.1067C>T (p.Pro356Leu) rs1406577455
NM_001379286.1(ZNF423):c.1073C>T (p.Ser358Phe) rs1972818404
NM_001379286.1(ZNF423):c.1083C>A (p.His361Gln)
NM_001379286.1(ZNF423):c.1085G>T (p.Ser362Ile)
NM_001379286.1(ZNF423):c.1108G>A (p.Gly370Ser)
NM_001379286.1(ZNF423):c.1117G>A (p.Ala373Thr)
NM_001379286.1(ZNF423):c.1124T>A (p.Met375Lys) rs936241107
NM_001379286.1(ZNF423):c.1150G>A (p.Ala384Thr)
NM_001379286.1(ZNF423):c.1158G>A (p.Val386=) rs2151886051
NM_001379286.1(ZNF423):c.1175C>T (p.Pro392Leu)
NM_001379286.1(ZNF423):c.1193C>G (p.Pro398Arg)
NM_001379286.1(ZNF423):c.1196T>C (p.Leu399Pro) rs1972807631
NM_001379286.1(ZNF423):c.1199G>A (p.Arg400Gln) rs574135774
NM_001379286.1(ZNF423):c.1205AGA[2] (p.Lys404del) rs774791925
NM_001379286.1(ZNF423):c.1228C>G (p.Gln410Glu)
NM_001379286.1(ZNF423):c.1232G>A (p.Gly411Asp)
NM_001379286.1(ZNF423):c.1246G>A (p.Val416Ile) rs752582625
NM_001379286.1(ZNF423):c.1276G>A (p.Asp426Asn)
NM_001379286.1(ZNF423):c.1276G>T (p.Asp426Tyr) rs780636926
NM_001379286.1(ZNF423):c.1278C>G (p.Asp426Glu) rs1567522470
NM_001379286.1(ZNF423):c.1316C>G (p.Thr439Ser) rs1455163436
NM_001379286.1(ZNF423):c.1324G>A (p.Ala442Thr) rs201914334
NM_001379286.1(ZNF423):c.1333C>T (p.Pro445Ser) rs2151885640
NM_001379286.1(ZNF423):c.1343G>A (p.Ser448Asn)
NM_001379286.1(ZNF423):c.1370C>T (p.Ser457Phe)
NM_001379286.1(ZNF423):c.1402G>A (p.Val468Ile) rs201588114
NM_001379286.1(ZNF423):c.1402G>C (p.Val468Leu)
NM_001379286.1(ZNF423):c.1406G>T (p.Arg469Leu) rs200959271
NM_001379286.1(ZNF423):c.1408A>G (p.Lys470Glu) rs766222312
NM_001379286.1(ZNF423):c.1412T>C (p.Leu471Pro) rs1596763863
NM_001379286.1(ZNF423):c.1415A>G (p.His472Arg) rs1221049277
NM_001379286.1(ZNF423):c.1432C>T (p.Pro478Ser)
NM_001379286.1(ZNF423):c.1448G>A (p.Gly483Asp) rs774043219
NM_001379286.1(ZNF423):c.1480C>T (p.Pro494Ser) rs1036276285
NM_001379286.1(ZNF423):c.1487T>C (p.Met496Thr) rs1394525022
NM_001379286.1(ZNF423):c.1489T>C (p.Phe497Leu)
NM_001379286.1(ZNF423):c.1492G>C (p.Ala498Pro) rs771331763
NM_001379286.1(ZNF423):c.1544A>G (p.Asn515Ser)
NM_001379286.1(ZNF423):c.1561G>T (p.Gly521Cys)
NM_001379286.1(ZNF423):c.1567A>C (p.Asn523His) rs2151885070
NM_001379286.1(ZNF423):c.1596G>T (p.Met532Ile)
NM_001379286.1(ZNF423):c.1630A>G (p.Ile544Val) rs1972779200
NM_001379286.1(ZNF423):c.1639G>A (p.Ala547Thr) rs1972778528
NM_001379286.1(ZNF423):c.1646G>C (p.Cys549Ser) rs745794633
NM_001379286.1(ZNF423):c.1675C>T (p.Pro559Ser) rs1972776458
NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)
NM_001379286.1(ZNF423):c.1691C>G (p.Thr564Arg) rs573032120
NM_001379286.1(ZNF423):c.1691C>T (p.Thr564Met) rs573032120
NM_001379286.1(ZNF423):c.1693C>G (p.Gln565Glu) rs1482233558
NM_001379286.1(ZNF423):c.169A>G (p.Thr57Ala)
NM_001379286.1(ZNF423):c.1702A>T (p.Met568Leu) rs2151884770
NM_001379286.1(ZNF423):c.173G>A (p.Ser58Asn) rs1567316336
NM_001379286.1(ZNF423):c.1748G>A (p.Gly583Asp) rs1406531890
NM_001379286.1(ZNF423):c.1756C>A (p.Leu586Met) rs1972772369
NM_001379286.1(ZNF423):c.1762C>T (p.Leu588Phe) rs2151884671
NM_001379286.1(ZNF423):c.1817A>T (p.Lys606Met) rs1397368982
NM_001379286.1(ZNF423):c.1877A>G (p.Gln626Arg)
NM_001379286.1(ZNF423):c.1886C>T (p.Ser629Leu) rs1972765928
NM_001379286.1(ZNF423):c.1888G>A (p.Ala630Thr) rs532691621
NM_001379286.1(ZNF423):c.1894G>A (p.Ala632Thr) rs369619436
NM_001379286.1(ZNF423):c.1894G>C (p.Ala632Pro) rs369619436
NM_001379286.1(ZNF423):c.1936G>A (p.Asp646Asn)
NM_001379286.1(ZNF423):c.1939C>T (p.Leu647Phe) rs1186676819
NM_001379286.1(ZNF423):c.1956T>G (p.Phe652Leu) rs2151884283
NM_001379286.1(ZNF423):c.1964T>G (p.Phe655Cys) rs1972762153
NM_001379286.1(ZNF423):c.1970C>T (p.Thr657Ile)
NM_001379286.1(ZNF423):c.1978A>G (p.Lys660Glu) rs1555515380
NM_001379286.1(ZNF423):c.2002C>T (p.Arg668Trp) rs779555962
NM_001379286.1(ZNF423):c.2012C>T (p.Ala671Val)
NM_001379286.1(ZNF423):c.201A>C (p.Glu67Asp)
NM_001379286.1(ZNF423):c.2080A>C (p.Met694Leu) rs987591738
NM_001379286.1(ZNF423):c.2081T>C (p.Met694Thr)
NM_001379286.1(ZNF423):c.2116G>A (p.Asp706Asn)
NM_001379286.1(ZNF423):c.2119A>G (p.Lys707Glu)
NM_001379286.1(ZNF423):c.2142C>A (p.Asp714Glu)
NM_001379286.1(ZNF423):c.2159T>C (p.Leu720Pro) rs762688948
NM_001379286.1(ZNF423):c.2267A>T (p.Lys756Met) rs2151883621
NM_001379286.1(ZNF423):c.2269A>T (p.Met757Leu) rs1972745525
NM_001379286.1(ZNF423):c.2281A>G (p.Thr761Ala) rs764069043
NM_001379286.1(ZNF423):c.2288G>A (p.Cys763Tyr) rs2151883560
NM_001379286.1(ZNF423):c.2301C>G (p.Phe767Leu)
NM_001379286.1(ZNF423):c.2312_2329del (p.Ala771_His776del)
NM_001379286.1(ZNF423):c.2335C>T (p.His779Tyr)
NM_001379286.1(ZNF423):c.2347G>A (p.Gly783Ser)
NM_001379286.1(ZNF423):c.2353C>G (p.Pro785Ala) rs746136095
NM_001379286.1(ZNF423):c.2366A>G (p.His789Arg)
NM_001379286.1(ZNF423):c.2368A>G (p.Lys790Glu) rs1555515191
NM_001379286.1(ZNF423):c.2388G>T (p.Glu796Asp)
NM_001379286.1(ZNF423):c.2395A>T (p.Ser799Cys) rs2151883288
NM_001379286.1(ZNF423):c.2396G>A (p.Ser799Asn) rs763561410
NM_001379286.1(ZNF423):c.2441A>T (p.Lys814Met) rs777844115
NM_001379286.1(ZNF423):c.2462G>A (p.Ser821Asn)
NM_001379286.1(ZNF423):c.2482A>G (p.Ile828Val)
NM_001379286.1(ZNF423):c.248A>G (p.Asp83Gly)
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
NM_001379286.1(ZNF423):c.2542G>A (p.Gly848Ser) rs772158477
NM_001379286.1(ZNF423):c.2542G>C (p.Gly848Arg)
NM_001379286.1(ZNF423):c.2560C>T (p.Pro854Ser) rs1972723732
NM_001379286.1(ZNF423):c.2563C>G (p.Pro855Ala)
NM_001379286.1(ZNF423):c.2567T>C (p.Met856Thr) rs1596759188
NM_001379286.1(ZNF423):c.2569G>A (p.Ala857Thr)
NM_001379286.1(ZNF423):c.2584G>A (p.Glu862Lys) rs754304924
NM_001379286.1(ZNF423):c.2604C>T (p.Gly868=)
NM_001379286.1(ZNF423):c.2608C>G (p.Leu870Val) rs774348975
NM_001379286.1(ZNF423):c.2666C>T (p.Ala889Val)
NM_001379286.1(ZNF423):c.2737C>T (p.Arg913Trp) rs1343918703
NM_001379286.1(ZNF423):c.2748C>A (p.Asp916Glu) rs2151882386
NM_001379286.1(ZNF423):c.2752A>G (p.Asn918Asp)
NM_001379286.1(ZNF423):c.2753A>G (p.Asn918Ser) rs1168330405
NM_001379286.1(ZNF423):c.2759G>A (p.Arg920Gln)
NM_001379286.1(ZNF423):c.275A>G (p.Asp92Gly) rs1413215435
NM_001379286.1(ZNF423):c.2767G>A (p.Glu923Lys)
NM_001379286.1(ZNF423):c.2777G>T (p.Gly926Val) rs1972705896
NM_001379286.1(ZNF423):c.2780C>T (p.Ser927Leu) rs1972705680
NM_001379286.1(ZNF423):c.2783G>A (p.Arg928His) rs746868124
NM_001379286.1(ZNF423):c.281G>C (p.Arg94Pro)
NM_001379286.1(ZNF423):c.2824G>A (p.Val942Ile)
NM_001379286.1(ZNF423):c.2836A>G (p.Thr946Ala)
NM_001379286.1(ZNF423):c.2848G>C (p.Glu950Gln) rs1555514900
NM_001379286.1(ZNF423):c.2851A>G (p.Asn951Asp) rs2151882099
NM_001379286.1(ZNF423):c.2854G>A (p.Gly952Arg)
NM_001379286.1(ZNF423):c.2861G>A (p.Arg954Gln)
NM_001379286.1(ZNF423):c.286C>G (p.His96Asp)
NM_001379286.1(ZNF423):c.2888C>T (p.Pro963Leu)
NM_001379286.1(ZNF423):c.2891C>G (p.Ala964Gly) rs1466336221
NM_001379286.1(ZNF423):c.2894A>G (p.Lys965Arg)
NM_001379286.1(ZNF423):c.289C>T (p.Arg97Cys) rs146233664
NM_001379286.1(ZNF423):c.2900A>T (p.Tyr967Phe) rs760522262
NM_001379286.1(ZNF423):c.2903T>C (p.Met968Thr)
NM_001379286.1(ZNF423):c.2908C>A (p.Pro970Thr)
NM_001379286.1(ZNF423):c.2921A>G (p.Glu974Gly) rs996772697
NM_001379286.1(ZNF423):c.2923C>T (p.Arg975Cys)
NM_001379286.1(ZNF423):c.2933C>T (p.Ser978Leu) rs794727731
NM_001379286.1(ZNF423):c.2968A>G (p.Ser990Gly) rs1972695081
NM_001379286.1(ZNF423):c.2972A>G (p.Lys991Arg)
NM_001379286.1(ZNF423):c.3005A>G (p.Lys1002Arg)
NM_001379286.1(ZNF423):c.3010C>A (p.Pro1004Thr) rs1367336475
NM_001379286.1(ZNF423):c.3014T>A (p.Leu1005Gln)
NM_001379286.1(ZNF423):c.3018G>C (p.Gln1006His) rs1972692383
NM_001379286.1(ZNF423):c.3019A>G (p.Ser1007Gly) rs2151881740
NM_001379286.1(ZNF423):c.3048G>C (p.Gln1016His)
NM_001379286.1(ZNF423):c.3054C>A (p.His1018Gln) rs761647283
NM_001379286.1(ZNF423):c.3068A>G (p.Asn1023Ser)
NM_001379286.1(ZNF423):c.3100A>T (p.Met1034Leu)
NM_001379286.1(ZNF423):c.313G>A (p.Asp105Asn) rs1212113675
NM_001379286.1(ZNF423):c.3164C>A (p.Ala1055Glu) rs111229124
NM_001379286.1(ZNF423):c.3166G>A (p.Gly1056Ser) rs913627419
NM_001379286.1(ZNF423):c.3179C>T (p.Ala1060Val)
NM_001379286.1(ZNF423):c.317C>A (p.Pro106Gln) rs113358702
NM_001379286.1(ZNF423):c.3188C>G (p.Pro1063Arg)
NM_001379286.1(ZNF423):c.3196C>G (p.Gln1066Glu) rs759015585
NM_001379286.1(ZNF423):c.3209A>C (p.Lys1070Thr) rs1197947777
NM_001379286.1(ZNF423):c.325T>C (p.Ser109Pro)
NM_001379286.1(ZNF423):c.3277A>G (p.Asn1093Asp) rs1239902492
NM_001379286.1(ZNF423):c.327C>G (p.Ser109=) rs1301443945
NM_001379286.1(ZNF423):c.3292G>A (p.Gly1098Ser)
NM_001379286.1(ZNF423):c.3317G>A (p.Arg1106His) rs147483451
NM_001379286.1(ZNF423):c.3329_3408del (p.Gly1110fs) rs2151880694
NM_001379286.1(ZNF423):c.3335T>C (p.Val1112Ala) rs1448778120
NM_001379286.1(ZNF423):c.3335T>G (p.Val1112Gly) rs1448778120
NM_001379286.1(ZNF423):c.3368G>A (p.Arg1123Gln) rs141996639
NM_001379286.1(ZNF423):c.3373T>C (p.Cys1125Arg)
NM_001379286.1(ZNF423):c.3423A>C (p.Glu1141Asp) rs1972667565
NM_001379286.1(ZNF423):c.3440T>C (p.Met1147Thr)
NM_001379286.1(ZNF423):c.3449A>G (p.Asp1150Gly) rs1247890274
NM_001379286.1(ZNF423):c.3455G>A (p.Arg1152His) rs375010326
NM_001379286.1(ZNF423):c.3455G>T (p.Arg1152Leu) rs375010326
NM_001379286.1(ZNF423):c.3463A>T (p.Thr1155Ser) rs1972665643
NM_001379286.1(ZNF423):c.3482C>A (p.Pro1161His)
NM_001379286.1(ZNF423):c.3503C>T (p.Ser1168Leu) rs1439677766
NM_001379286.1(ZNF423):c.3517-13G>A rs2151865206
NM_001379286.1(ZNF423):c.3619G>A (p.Glu1207Lys) rs746296704
NM_001379286.1(ZNF423):c.3623G>A (p.Cys1208Tyr) rs2151708972
NM_001379286.1(ZNF423):c.3640A>G (p.Met1214Val) rs1968565957
NM_001379286.1(ZNF423):c.3703G>A (p.Gly1235Ser)
NM_001379286.1(ZNF423):c.3704G>A (p.Gly1235Asp)
NM_001379286.1(ZNF423):c.3707C>T (p.Thr1236Ile)
NM_001379286.1(ZNF423):c.371C>G (p.Thr124Arg) rs376833288
NM_001379286.1(ZNF423):c.371C>T (p.Thr124Met) rs376833288
NM_001379286.1(ZNF423):c.3733+6G>C rs201541196
NM_001379286.1(ZNF423):c.376A>G (p.Met126Val) rs150427822
NM_001379286.1(ZNF423):c.376A>T (p.Met126Leu) rs150427822
NM_001379286.1(ZNF423):c.3781G>A (p.Gly1261Arg)
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg) rs2151705854
NM_001379286.1(ZNF423):c.3861G>A (p.Met1287Ile) rs2151640447
NM_001379286.1(ZNF423):c.3871G>A (p.Ala1291Thr)
NM_001379286.1(ZNF423):c.40+33071C>T rs2034959188
NM_001379286.1(ZNF423):c.400G>A (p.Gly134Ser)
NM_001379286.1(ZNF423):c.419G>T (p.Gly140Val) rs2151887973
NM_001379286.1(ZNF423):c.454G>A (p.Asp152Asn) rs1173822448
NM_001379286.1(ZNF423):c.523A>G (p.Lys175Glu)
NM_001379286.1(ZNF423):c.530C>T (p.Thr177Ile)
NM_001379286.1(ZNF423):c.565C>T (p.Arg189Cys) rs1972852088
NM_001379286.1(ZNF423):c.595G>A (p.Asp199Asn) rs867011137
NM_001379286.1(ZNF423):c.61G>A (p.Asp21Asn)
NM_001379286.1(ZNF423):c.637C>T (p.Arg213Cys)
NM_001379286.1(ZNF423):c.709C>T (p.Arg237Cys)
NM_001379286.1(ZNF423):c.746T>C (p.Met249Thr)
NM_001379286.1(ZNF423):c.747G>T (p.Met249Ile)
NM_001379286.1(ZNF423):c.74C>G (p.Ala25Gly) rs1458377167
NM_001379286.1(ZNF423):c.751G>T (p.Ala251Ser)
NM_001379286.1(ZNF423):c.771G>C (p.Glu257Asp) rs1248320608
NM_001379286.1(ZNF423):c.789G>T (p.Glu263Asp) rs767856376
NM_001379286.1(ZNF423):c.868G>T (p.Val290Leu) rs376939875
NM_001379286.1(ZNF423):c.871C>A (p.Leu291Ile) rs770995307
NM_001379286.1(ZNF423):c.878G>T (p.Arg293Leu) rs764472490
NM_001379286.1(ZNF423):c.895G>A (p.Glu299Lys)
NM_001379286.1(ZNF423):c.898A>G (p.Lys300Glu)
NM_001379286.1(ZNF423):c.916A>T (p.Ile306Phe)
NM_001379286.1(ZNF423):c.930G>T (p.Glu310Asp)
NM_001379286.1(ZNF423):c.937G>C (p.Val313Leu) rs1187402285
NM_001379286.1(ZNF423):c.949A>G (p.Thr317Ala)
NM_001379286.1(ZNF423):c.962A>G (p.His321Arg) rs1435941875
NM_001379286.1(ZNF423):c.973G>A (p.Ala325Thr) rs771166740
NM_001379286.1(ZNF423):c.97G>A (p.Ala33Thr) rs753557797
NM_001379286.1(ZNF423):c.99A>G (p.Ala33=)
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) rs764952763
NM_001382391.1(CSPP1):c.-104A>G
NM_001382391.1(CSPP1):c.-104A>T rs1805077545
NM_001382391.1(CSPP1):c.-108C>T rs2129538420
NM_001382391.1(CSPP1):c.-125C>A
NM_001382391.1(CSPP1):c.-128C>T rs775895663
NM_001382391.1(CSPP1):c.-138C>A rs373705126
NM_001382391.1(CSPP1):c.-138C>T
NM_001382391.1(CSPP1):c.-142C>A rs1023702149
NM_001382391.1(CSPP1):c.-143T>A rs1164437313
NM_001382391.1(CSPP1):c.-147C>G
NM_001382391.1(CSPP1):c.-149T>A rs768356971
NM_001382391.1(CSPP1):c.-149T>G
NM_001382391.1(CSPP1):c.-150A>T
NM_001382391.1(CSPP1):c.-47A>G
NM_001382391.1(CSPP1):c.-57C>G
NM_001382391.1(CSPP1):c.-66G>A rs2129538438
NM_001382391.1(CSPP1):c.-68G>A rs2129538437
NM_001382391.1(CSPP1):c.-68G>C
NM_001382391.1(CSPP1):c.-74G>A
NM_001382391.1(CSPP1):c.-80C>G rs745897839
NM_001382391.1(CSPP1):c.-90C>T
NM_001382391.1(CSPP1):c.-96C>G rs751458139
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
NM_001382391.1(CSPP1):c.1023-3T>C
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) rs2129547771
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) rs1815423493
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) rs1807945498
NM_001382391.1(CSPP1):c.1093+3A>G rs1815432822
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) rs2129549763
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) rs768714635
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) rs748162424
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) rs1816951976
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) rs760205035
NM_001382391.1(CSPP1):c.1188-3T>C
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) rs2129550393
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) rs370123119
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) rs201880658
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) rs2129550845
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) rs2129550849
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) rs2129550850
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) rs747312980
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) rs376880257
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) rs2129550870
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) rs767353646
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) rs2129550877
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) rs1818329945
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) rs2129551362
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) rs2129551363
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) rs766545455
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) rs772097768
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) rs369723292
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) rs369723292
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) rs1028530380
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) rs2129551469
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) rs2129551479
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) rs375847469
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) rs2129554180
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) rs2129554181
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) rs1821332797
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) rs771386855
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) rs2129555264
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) rs767674652
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) rs752873157
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) rs2129555267
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) rs2129541315
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) rs1807963359
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) rs1822601037
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) rs923561338
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) rs1822608915
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) rs2129555283
NM_001382391.1(CSPP1):c.1975+5G>A
NM_001382391.1(CSPP1):c.1975+6T>C
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) rs766230896
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) rs1226391179
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) rs761009916
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) rs764240953
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) rs2129558004
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) rs2129558011
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) rs1825359470
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
NM_001382391.1(CSPP1):c.2129-16A>G rs1826203961
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) rs780885390
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) rs778822396
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) rs201974031
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) rs2129559050
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) rs2129559060
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) rs2129559063
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) rs1826224959
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) rs769971911
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) rs2129559079
NM_001382391.1(CSPP1):c.2241+9C>G rs1826230466
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) rs2129560139
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.2391+3A>T rs1338097590
NM_001382391.1(CSPP1):c.2391+4C>T
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) rs2129560252
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) rs773946059
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) rs1283124706
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) rs750079297
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) rs752478502
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) rs909732603
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) rs1484918109
NM_001382391.1(CSPP1):c.2539-18A>G
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) rs1828417560
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) rs1828419474
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) rs1828425319
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) rs2129543528
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) rs2129561809
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) rs1828434498
NM_001382391.1(CSPP1):c.2643+4T>C
NM_001382391.1(CSPP1):c.2643+4T>G rs748730202
NM_001382391.1(CSPP1):c.2644-11T>G
NM_001382391.1(CSPP1):c.2644-14T>G rs2129562428
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) rs779762140
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) rs2129562479
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) rs1828818248
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) rs757750162
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) rs374300498
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) rs1586651470
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) rs779579881
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) rs367889164
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) rs764280843
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) rs776600422
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) rs1182648944
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) rs1402959828
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
NM_001382391.1(CSPP1):c.2828+2C>T rs1828946939
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) rs770066826
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) rs770066826
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) rs781283590
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) rs1480057271
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) rs1830675527
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) rs2129567311
NM_001382391.1(CSPP1):c.2968+5G>A rs1057524684
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) rs1830678644
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) rs993509179
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) rs750443075
NM_001382391.1(CSPP1):c.303+5T>C rs1332818013
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) rs374717800
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) rs374717800
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) rs1831355993
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
NM_001382391.1(CSPP1):c.3109+4dup rs2129568589
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
NM_001382391.1(CSPP1):c.3220+7A>G
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) rs774501418
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) rs754193806
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) rs749558548
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) rs1837019445
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) rs2129575962
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) rs569956227
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) rs2129575980
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) rs760082779
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) rs2129576630
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) rs1414800888
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) rs1837730212
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) rs776145236
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) rs1837735009
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) rs1563816165
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) rs1837760146
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) rs1026132903
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) rs1554569071
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) rs150924296
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
NM_001382391.1(CSPP1):c.483+6T>C
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) rs2129545447
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) rs1308150996
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) rs1477078769
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) rs2129545466
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) rs1807446261
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) rs193231165
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) rs777234205
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) rs2129545496
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) rs771943937
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) rs763959523
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) rs2129545507
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) rs750608589
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) rs750608589
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) rs1353287068
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) rs1812585066
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) rs1812585556
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) rs1812594373
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) rs1812598635
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) rs761539830
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) rs1339310127
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) rs1807452107
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) rs1585833752
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) rs2129545557
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) rs1313170509
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
NM_001382391.1(CSPP1):c.99+5A>G
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) rs1479905045
NM_001384140.1(PCDH15):c.-155G>C rs886047069
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del) rs1555135527
NM_001384140.1(PCDH15):c.1003C>G (p.Pro335Ala) rs2051732380
NM_001384140.1(PCDH15):c.1098+14A>G rs764625426
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=) rs1315291067
NM_001384140.1(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_001384140.1(PCDH15):c.1373G>A (p.Gly458Asp) rs766969775
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly) rs1294048440
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr) rs1564625358
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu) rs565753445
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.157+3_157+6del rs1308495572
NM_001384140.1(PCDH15):c.1643T>G (p.Ile548Ser) rs376751126
NM_001384140.1(PCDH15):c.1697_1699del (p.Thr566del) rs1394210823
NM_001384140.1(PCDH15):c.1757C>T (p.Ala586Val) rs201301491
NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser) rs1371226970
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe) rs2133060549
NM_001384140.1(PCDH15):c.1897G>A (p.Ala633Thr) rs2042563083
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.1934G>T (p.Gly645Val) rs763226433
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
NM_001384140.1(PCDH15):c.1998-21GTTT[2] rs763135922
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=) rs200699443
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile) rs1471005419
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_001384140.1(PCDH15):c.2220+9A>G rs886047065
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr) rs567811243
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn) rs2092876050
NM_001384140.1(PCDH15):c.2723G>A (p.Gly908Asp) rs746314678
NM_001384140.1(PCDH15):c.2751+7G>T rs2092871169
NM_001384140.1(PCDH15):c.2751+8C>T rs1360011079
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=) rs2088092428
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala) rs2134276764
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro) rs2088082400
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.317A>T (p.Asp106Val) rs2135022416
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=) rs1345969752
NM_001384140.1(PCDH15):c.3313C>A (p.Leu1105Ile) rs1240526910
NM_001384140.1(PCDH15):c.3404A>G (p.Gln1135Arg) rs1303595236
NM_001384140.1(PCDH15):c.3410A>G (p.Glu1137Gly) rs1439470139
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del) rs1554852410
NM_001384140.1(PCDH15):c.3502-10del rs750835578
NM_001384140.1(PCDH15):c.3502-13dup rs750835578
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=) rs61731382
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=) rs2133038894
NM_001384140.1(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala) rs2078805937
NM_001384140.1(PCDH15):c.3813G>C (p.Leu1271Phe) rs937214642
NM_001384140.1(PCDH15):c.3814G>C (p.Asp1272His) rs766636473
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys) rs2132762710
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_001384140.1(PCDH15):c.3983+2dup rs1554827124
NM_001384140.1(PCDH15):c.3987T>G (p.Phe1329Leu) rs2077014769
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_001384140.1(PCDH15):c.400C>A (p.Arg134=) rs137853003
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys) rs1358647851
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val) rs752371584
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_001384140.1(PCDH15):c.4202+5G>A rs886047063
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=) rs774100942
NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser) rs2076761111
NM_001384140.1(PCDH15):c.4303C>T (p.Pro1435Ser) rs766039931
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=) rs949983423
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_001384140.1(PCDH15):c.4318C>G (p.Pro1440Ala) rs2076754812
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu) rs767761740
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr) rs2076749331
NM_001384140.1(PCDH15):c.4368-1116G>C rs571779869
NM_001384140.1(PCDH15):c.4368-1118T>C rs2076261196
NM_001384140.1(PCDH15):c.4368-1169A>G rs534928410
NM_001384140.1(PCDH15):c.4368-1239G>A rs886047055
NM_001384140.1(PCDH15):c.4368-1360_4368-1359del rs886047056
NM_001384140.1(PCDH15):c.4368-1481_4368-1478dup rs886047057
NM_001384140.1(PCDH15):c.4368-1493T>C rs886047058
NM_001384140.1(PCDH15):c.4368-1501dup rs548021914
NM_001384140.1(PCDH15):c.4368-1555C>T rs184835185
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT rs1554819686
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3] rs1452730552
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys) rs1554816509
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr) rs1554816211
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu) rs1554816210
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter) rs1554816196
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del) rs1554816165
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1009G>A rs1554815909
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del rs1588876049
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del rs1554815781
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup rs1343032451
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup rs1588874677
NM_001384140.1(PCDH15):c.4671+1393G>C
NM_001384140.1(PCDH15):c.4671+1403GAG[5] rs1272584101
NM_001384140.1(PCDH15):c.4671+1412G>T rs1467453189
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del rs1554815654
NM_001384140.1(PCDH15):c.4671+1550C>T rs765589050
NM_001384140.1(PCDH15):c.4671+1577GAA[3] rs774006219
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del rs769671738
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup rs1554815534
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup rs1554815468
NM_001384140.1(PCDH15):c.4672-1662del rs1554815484
NM_001384140.1(PCDH15):c.4672-1666G>T rs1297423576
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup rs1554815527
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del rs2132368553
NM_001384140.1(PCDH15):c.4672-2A>G rs1554814991
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs) rs1589057333
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs) rs778963761
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup) rs1554814938
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs) rs1554814927
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs) rs750833316
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala) rs775845546
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs) rs757520086
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs) rs1554814800
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) rs570460962
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup) rs1554814729
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs) rs1554814684
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs) rs1320916581
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter) rs1554814683
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs) rs1554814669
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del) rs1554814635
NM_001384140.1(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_001384140.1(PCDH15):c.705+2_705+3insTT rs1554903836
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=) rs112059717
NM_001384140.1(PCDH15):c.706-17_706-14del rs886047068
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_001384140.1(PCDH15):c.851C>T (p.Ala284Val) rs777071595
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.876+7A>G rs1435301478
NM_001384140.1(PCDH15):c.92-515T>G rs1283842168
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
NM_001384474.1(LOXHD1):c.1191G>T (p.Trp397Cys) rs201033524
NM_001384474.1(LOXHD1):c.1323C>A (p.Thr441=) rs1599035715
NM_001384474.1(LOXHD1):c.1380C>G (p.Leu460=) rs750264813
NM_001384474.1(LOXHD1):c.1459T>C (p.Tyr487His) rs886053839
NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp) rs2144147870
NM_001384474.1(LOXHD1):c.1680C>T (p.Cys560=) rs2037927966
NM_001384474.1(LOXHD1):c.1714A>C (p.Asn572His) rs886053837
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met) rs747842788
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_001384474.1(LOXHD1):c.1873G>A (p.Asp625Asn) rs2063664738
NM_001384474.1(LOXHD1):c.1875T>C (p.Asp625=) rs886053836
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.197C>T (p.Thr66Met) rs199536893
NM_001384474.1(LOXHD1):c.2096G>T (p.Ser699Ile) rs755207410
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2386G>A (p.Gly796Arg) rs886053835
NM_001384474.1(LOXHD1):c.2468G>C (p.Gly823Ala) rs886053833
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2708T>C (p.Val903Ala) rs375940400
NM_001384474.1(LOXHD1):c.2771G>C (p.Arg924Pro) rs140904207
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.2907G>A (p.Glu969=) rs886053831
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp) rs2037387758
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met) rs546426989
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) rs2144370861
NM_001384474.1(LOXHD1):c.3914-3C>T rs2036407024
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4136G>A (p.Gly1379Asp) rs756242236
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.4194G>T (p.Arg1398Ser) rs2144278857
NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=) rs2036156768
NM_001384474.1(LOXHD1):c.4519G>A (p.Glu1507Lys) rs752123459
NM_001384474.1(LOXHD1):c.4690C>T (p.Leu1564Phe) rs573600473
NM_001384474.1(LOXHD1):c.4743G>A (p.Glu1581=) rs886053826
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr) rs200490958
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)
NM_001384474.1(LOXHD1):c.5085+1G>A rs1418245706
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs) rs1555669048
NM_001384474.1(LOXHD1):c.5272G>A (p.Val1758Ile) rs535485519
NM_001384474.1(LOXHD1):c.5272G>T (p.Val1758Phe) rs535485519
NM_001384474.1(LOXHD1):c.548T>C (p.Val183Ala) rs2038617630
NM_001384474.1(LOXHD1):c.5498C>G (p.Pro1833Arg) rs772058659
NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu) rs781097312
NM_001384474.1(LOXHD1):c.5891G>T (p.Gly1964Val) rs771725391
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)
NM_001384474.1(LOXHD1):c.6050-14C>T rs886053823
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala) rs2032151816
NM_001384474.1(LOXHD1):c.6723C>T (p.Asn2241=) rs528843705
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile) rs779935366
NM_001384474.1(LOXHD1):c.6779G>C (p.Arg2260Pro) rs753209859
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381
NM_001384474.1(LOXHD1):c.759+5G>A rs2144311627
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg) rs1796552273
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala) rs1779345100
NM_001386140.1(MTTP):c.*1003T>C rs796899519
NM_001386140.1(MTTP):c.*1044G>T rs886058965
NM_001386140.1(MTTP):c.*219G>A rs1358012798
NM_001386140.1(MTTP):c.*41A>G rs886058959
NM_001386140.1(MTTP):c.*434G>A rs1358561776
NM_001386140.1(MTTP):c.*454dup rs545365701
NM_001386140.1(MTTP):c.*474T>C rs960894922
NM_001386140.1(MTTP):c.*517A>T rs886058964
NM_001386140.1(MTTP):c.*55G>C rs192882987
NM_001386140.1(MTTP):c.*82G>A rs886058960
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile) rs2110230166
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) rs1368249156
NM_001386140.1(MTTP):c.1769+12T>C rs767162951
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) rs746293101
NM_001386140.1(MTTP):c.1868-6C>T rs772185759
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) rs767606327
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) rs1578257313
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala) rs780797954
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) rs780797954
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) rs1726222895
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) rs1272679414
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) rs2110239476
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) rs1726272076
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser) rs867316992
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) rs1724921174
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) rs150319930
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) rs1725509234
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) rs1037319735
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) rs1001965936
NM_001393500.2(TOMT):c.*205C>T rs1946063829
NM_001393500.2(TOMT):c.*244C>A rs538247137
NM_001393500.2(TOMT):c.*601A>C rs116397624
NM_001393500.2(TOMT):c.*622C>T rs776032348
NM_001393500.2(TOMT):c.360G>A (p.Leu120=) rs886048630
NM_001393500.2(TOMT):c.361C>G (p.Pro121Ala) rs1288510412
NM_001393500.2(TOMT):c.493C>T (p.Pro165Ser) rs886048632
NM_001393500.2(TOMT):c.761A>G (p.Tyr254Cys) rs886048635
NM_001393500.2(TOMT):c.773G>A (p.Gly258Asp) rs886048636
NM_001393500.2(TOMT):c.80T>C (p.Leu27Pro)
NM_001395413.1(POR):c.*147CTC[1] rs886062444
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_001510.4(GRID2):c.-62C>T
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
NM_001510.4(GRID2):c.1100G>A (p.Arg367His)
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr) rs1728640535
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly) rs752073311
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) rs1755738807
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)
NM_001543.5(NDST1):c.340G>T (p.Glu114Ter) rs1085307082
NM_001543.5(NDST1):c.39C>G (p.His13Gln) rs777877507
NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
NM_001614.5(ACTG1):c.123+5G>C
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) rs2143784086
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) rs2143783289
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.283C>T (p.Arg95Cys) rs2143783076
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.364-3C>G
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) rs1555666823
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) rs1555666818
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) rs2143779284
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) rs781968214
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) rs587780274
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) rs2143778304
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu)
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) rs2143775969
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
NM_001614.5(ACTG1):c.859G>A (p.Val287Met) rs2143775561
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
NM_001614.5(ACTG1):c.914T>C (p.Met305Thr)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001690.4(ATP6V1A):c.1227-6A>G rs1709148623
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) rs1709239976
NM_001692.4(ATP6V1B1):c.*211del rs886056276
NM_001692.4(ATP6V1B1):c.*53G>A rs886056275
NM_001692.4(ATP6V1B1):c.1025T>G (p.Ile342Ser) rs2104831947
NM_001692.4(ATP6V1B1):c.1102G>A (p.Glu368Lys)
NM_001692.4(ATP6V1B1):c.1116C>T (p.Tyr372=) rs782264575
NM_001692.4(ATP6V1B1):c.1178C>G (p.Ser393Trp) rs1333081051
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.1308G>A (p.Glu436=) rs886056274
NM_001692.4(ATP6V1B1):c.1331_1348del (p.Leu444_Leu449del) rs1219560039
NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His) rs1680689994
NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr) rs1680690845
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.1483G>T (p.Asp495Tyr) rs1558681213
NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln) rs1553416813
NM_001692.4(ATP6V1B1):c.174+415G>A
NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu) rs1553415231
NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=) rs199559744
NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del) rs1572920649
NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) rs1318500139
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp) rs876657744
NM_001692.4(ATP6V1B1):c.611C>A (p.Ala204Glu)
NM_001692.4(ATP6V1B1):c.687+9A>G rs1680572519
NM_001692.4(ATP6V1B1):c.806C>A (p.Pro269Gln) rs145090491
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) rs782461130
NM_001692.4(ATP6V1B1):c.91C>A (p.Arg31=) rs121964879
NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met) rs1558679896
NM_001692.4(ATP6V1B1):c.993G>T (p.Arg331=) rs886056272
NM_001813.3(CENPE):c.1722+5G>A rs1754632871
NM_001813.3(CENPE):c.2748dup (p.Leu917fs)
NM_001813.3(CENPE):c.3494A>G (p.Asn1165Ser)
NM_001813.3(CENPE):c.5035G>A (p.Glu1679Lys) rs114399328
NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)
NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)
NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)
NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)
NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)
NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)
NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)
NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)
NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)
NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)
NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)
NM_001814.6(CTSC):c.1325G>A (p.Arg442His)
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)
NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)
NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
NM_001814.6(CTSC):c.290A>G (p.Asn97Ser)
NM_001814.6(CTSC):c.295T>C (p.Tyr99His)
NM_001814.6(CTSC):c.296A>T (p.Tyr99Phe)
NM_001814.6(CTSC):c.299A>G (p.Lys100Arg)
NM_001814.6(CTSC):c.308C>T (p.Ala103Val)
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
NM_001814.6(CTSC):c.318+4_318+7del
NM_001814.6(CTSC):c.338A>G (p.Lys113Arg)
NM_001814.6(CTSC):c.340G>C (p.Val114Leu)
NM_001814.6(CTSC):c.344C>T (p.Thr115Ile)
NM_001814.6(CTSC):c.353G>A (p.Cys118Tyr)
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
NM_001814.6(CTSC):c.641+3A>G
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.757+3A>G
NM_001814.6(CTSC):c.757+5A>G
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)
NM_001814.6(CTSC):c.758-16T>G
NM_001814.6(CTSC):c.758-7T>A
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
NM_001814.6(CTSC):c.790A>C (p.Met264Leu)
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
NM_001814.6(CTSC):c.796A>G (p.Met266Val)
NM_001814.6(CTSC):c.806C>T (p.Ala269Val)
NM_001814.6(CTSC):c.830A>G (p.Asn277Ser)
NM_001814.6(CTSC):c.839C>T (p.Thr280Ile)
NM_001814.6(CTSC):c.844A>G (p.Ile282Val)
NM_001814.6(CTSC):c.848T>C (p.Leu283Pro)
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)
NM_001814.6(CTSC):c.919G>A (p.Ala307Thr)
NM_001814.6(CTSC):c.921A>G (p.Ala307=)
NM_001814.6(CTSC):c.923G>A (p.Gly308Glu)
NM_001814.6(CTSC):c.931G>A (p.Ala311Thr)
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.950T>G (p.Val317Gly)
NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)
NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)
NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln)
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1007A>G (p.Tyr336Cys) rs2149823058
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys) rs1370029240
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.101A>T (p.Glu34Val)
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.1034C>A (p.Ala345Asp)
NM_002109.6(HARS1):c.1040C>T (p.Ala347Val)
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys) rs1371763515
NM_002109.6(HARS1):c.1048G>T (p.Glu350Ter)
NM_002109.6(HARS1):c.104T>C (p.Val35Ala) rs1581532058
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu) rs1758395666
NM_002109.6(HARS1):c.1055T>G (p.Leu352Arg)
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)
NM_002109.6(HARS1):c.1061_1062del (p.Val354fs)
NM_002109.6(HARS1):c.1075G>T (p.Ala359Ser) rs1562005042
NM_002109.6(HARS1):c.1076C>A (p.Ala359Asp) rs1313670595
NM_002109.6(HARS1):c.1088A>G (p.Tyr363Cys) rs1402131324
NM_002109.6(HARS1):c.1090G>C (p.Asp364His)
NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg)
NM_002109.6(HARS1):c.1106T>C (p.Met369Thr) rs764631385
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg)
NM_002109.6(HARS1):c.1131del (p.Pro378fs) rs2149822729
NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr) rs1758384765
NM_002109.6(HARS1):c.1150A>G (p.Ile384Val)
NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe)
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn) rs1758381320
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys) rs1758380241
NM_002109.6(HARS1):c.115C>G (p.Leu39Val) rs201729757
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly) rs1581503971
NM_002109.6(HARS1):c.1185G>C (p.Gln395His) rs546882914
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly) rs2149822607
NM_002109.6(HARS1):c.1195-14T>A
NM_002109.6(HARS1):c.1195-9_1195-8delinsTA
NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser)
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe) rs1758288242
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln) rs552434037
NM_002109.6(HARS1):c.1213C>T (p.Arg405Trp) rs908109064
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln) rs147185134
NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro)
NM_002109.6(HARS1):c.1225A>G (p.Thr409Ala)
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter) rs866572603
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del) rs779289896
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu) rs1758283199
NM_002109.6(HARS1):c.1256A>G (p.Lys419Arg)
NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA rs2149819821
NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg) rs2149819642
NM_002109.6(HARS1):c.137G>A (p.Gly46Asp)
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) rs754304255
NM_002109.6(HARS1):c.1406A>C (p.Gln469Pro)
NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg) rs971012132
NM_002109.6(HARS1):c.1429A>G (p.Lys477Glu) rs2149819440
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn) rs1759376273
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys) rs768174431
NM_002109.6(HARS1):c.1436G>A (p.Arg479His)
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu) rs1581500046
NM_002109.6(HARS1):c.143A>G (p.Asp48Gly)
NM_002109.6(HARS1):c.1447A>G (p.Ser483Gly) rs2149819356
NM_002109.6(HARS1):c.1448G>A (p.Ser483Asn) rs2149819348
NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys)
NM_002109.6(HARS1):c.1459G>A (p.Val487Met)
NM_002109.6(HARS1):c.145G>A (p.Glu49Lys)
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln) rs1295541335
NM_002109.6(HARS1):c.1479C>G (p.Asp493Glu)
NM_002109.6(HARS1):c.1486G>C (p.Glu496Gln)
NM_002109.6(HARS1):c.148A>C (p.Ser50Arg)
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val) rs2149818483
NM_002109.6(HARS1):c.1495A>T (p.Lys499Ter)
NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)
NM_002109.6(HARS1):c.149G>A (p.Ser50Asn)
NM_002109.6(HARS1):c.1505_1506dup (p.Gly503fs)
NM_002109.6(HARS1):c.1508G>T (p.Gly503Val) rs781414119
NM_002109.6(HARS1):c.1510C>T (p.Gln504Ter) rs2149818394
NM_002109.6(HARS1):c.1512G>T (p.Gln504His)
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
NM_002109.6(HARS1):c.175C>T (p.Pro59Ser) rs1759373051
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)
NM_002109.6(HARS1):c.180+4A>T rs2149844902
NM_002109.6(HARS1):c.180G>A (p.Lys60=)
NM_002109.6(HARS1):c.192_198delinsACTG (p.Asp64_Ser66delinsGluLeu)
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser) rs1581516557
NM_002109.6(HARS1):c.200C>T (p.Pro67Leu) rs1758824887
NM_002109.6(HARS1):c.205C>T (p.Gln69Ter) rs906500515
NM_002109.6(HARS1):c.207G>C (p.Gln69His) rs1758823982
NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)
NM_002109.6(HARS1):c.223_225del (p.Lys75del) rs1185763867
NM_002109.6(HARS1):c.241A>G (p.Ile81Val)
NM_002109.6(HARS1):c.241A>T (p.Ile81Phe)
NM_002109.6(HARS1):c.245G>C (p.Arg82Pro)
NM_002109.6(HARS1):c.261C>G (p.His87Gln)
NM_002109.6(HARS1):c.280A>G (p.Thr94Ala)
NM_002109.6(HARS1):c.286G>A (p.Val96Ile) rs1758818774
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter) rs1758818618
NM_002109.6(HARS1):c.28C>G (p.Leu10Val)
NM_002109.6(HARS1):c.2T>C (p.Met1Thr) rs1759420438
NM_002109.6(HARS1):c.300+4del
NM_002109.6(HARS1):c.300+6G>A
NM_002109.6(HARS1):c.300G>A (p.Lys100=)
NM_002109.6(HARS1):c.317A>G (p.Lys106Arg) rs1281935760
NM_002109.6(HARS1):c.349C>G (p.Leu117Val) rs1758613182
NM_002109.6(HARS1):c.352_375del (p.Lys118_Leu125del) rs2149827873
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr) rs1758612647
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp) rs749493279
NM_002109.6(HARS1):c.368A>C (p.Glu123Ala) rs2149827896
NM_002109.6(HARS1):c.369G>T (p.Glu123Asp) rs2149827889
NM_002109.6(HARS1):c.386A>G (p.Tyr129Cys)
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)
NM_002109.6(HARS1):c.391C>T (p.Leu131Phe)
NM_002109.6(HARS1):c.392T>G (p.Leu131Arg)
NM_002109.6(HARS1):c.397-10_397-9del rs886060020
NM_002109.6(HARS1):c.398T>A (p.Val133Asp) rs2149826951
NM_002109.6(HARS1):c.398T>C (p.Val133Ala)
NM_002109.6(HARS1):c.401C>G (p.Pro134Arg) rs863225122
NM_002109.6(HARS1):c.407C>T (p.Ala136Val) rs1334234821
NM_002109.6(HARS1):c.423G>T (p.Met141Ile)
NM_002109.6(HARS1):c.437_439dup (p.Asn146dup) rs755088410
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg) rs1394473077
NM_002109.6(HARS1):c.440T>C (p.Ile147Thr)
NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)
NM_002109.6(HARS1):c.454A>G (p.Ile152Val)
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.465A>T (p.Val155=)
NM_002109.6(HARS1):c.467A>G (p.Tyr156Cys)
NM_002109.6(HARS1):c.485C>T (p.Ala162Val)
NM_002109.6(HARS1):c.489G>A (p.Met163Ile)
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr) rs1759420210
NM_002109.6(HARS1):c.4del (p.Ala2fs)
NM_002109.6(HARS1):c.505C>T (p.Arg169Trp)
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys) rs1758491184
NM_002109.6(HARS1):c.553A>G (p.Met185Val)
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)
NM_002109.6(HARS1):c.562G>C (p.Asp188His) rs1758489449
NM_002109.6(HARS1):c.581T>C (p.Ile194Thr) rs1758488093
NM_002109.6(HARS1):c.584T>C (p.Met195Thr) rs2149825219
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys) rs747711899
NM_002109.6(HARS1):c.589G>C (p.Glu197Gln)
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter) rs780654800
NM_002109.6(HARS1):c.611T>C (p.Ile204Thr)
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)
NM_002109.6(HARS1):c.629_630+4del rs1562008713
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg) rs1759411593
NM_002109.6(HARS1):c.630+6A>G
NM_002109.6(HARS1):c.630+8C>G rs1021221934
NM_002109.6(HARS1):c.631-3C>T rs533067917
NM_002109.6(HARS1):c.637G>T (p.Asp213Tyr)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu) rs1562008284
NM_002109.6(HARS1):c.640C>T (p.Arg214Ter)
NM_002109.6(HARS1):c.643C>T (p.Arg215Cys)
NM_002109.6(HARS1):c.660G>A (p.Met220Ile)
NM_002109.6(HARS1):c.662T>C (p.Phe221Ser) rs2149824713
NM_002109.6(HARS1):c.664G>A (p.Ala222Thr)
NM_002109.6(HARS1):c.672_673del (p.Cys224fs) rs1758469143
NM_002109.6(HARS1):c.677T>A (p.Val226Asp) rs1758468780
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg) rs1416014791
NM_002109.6(HARS1):c.693C>G (p.Phe231Leu)
NM_002109.6(HARS1):c.695G>T (p.Arg232Leu)
NM_002109.6(HARS1):c.697A>G (p.Thr233Ala)
NM_002109.6(HARS1):c.730-20A>G
NM_002109.6(HARS1):c.730-2A>G
NM_002109.6(HARS1):c.730G>A (p.Val244Met)
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr) rs748594458
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys) rs1758442472
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu) rs1050247
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu) rs765223763
NM_002109.6(HARS1):c.801T>G (p.Ile267Met)
NM_002109.6(HARS1):c.802G>C (p.Gly268Arg) rs2149823964
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)
NM_002109.6(HARS1):c.815A>G (p.Gln272Arg)
NM_002109.6(HARS1):c.823+6G>C rs1758439013
NM_002109.6(HARS1):c.824-10G>C
NM_002109.6(HARS1):c.824-1G>A
NM_002109.6(HARS1):c.824-3C>T
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg) rs2149823561
NM_002109.6(HARS1):c.827G>T (p.Gly276Val)
NM_002109.6(HARS1):c.829G>T (p.Val277Leu)
NM_002109.6(HARS1):c.836T>A (p.Leu279Gln)
NM_002109.6(HARS1):c.840G>A (p.Val280=) rs1275864095
NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)
NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)
NM_002109.6(HARS1):c.869C>G (p.Ser290Cys)
NM_002109.6(HARS1):c.86A>T (p.Glu29Val)
NM_002109.6(HARS1):c.880C>A (p.Gln294Lys)
NM_002109.6(HARS1):c.888G>T (p.Leu296Phe)
NM_002109.6(HARS1):c.898G>A (p.Gly300Arg)
NM_002109.6(HARS1):c.90+1G>A
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.90+3G>A rs1759409258
NM_002109.6(HARS1):c.90+5G>A rs768353479
NM_002109.6(HARS1):c.903C>A (p.Asp301Glu)
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del) rs962526639
NM_002109.6(HARS1):c.976C>T (p.Arg326Ter) rs1248042019
NM_002109.6(HARS1):c.977G>A (p.Arg326Gln) rs765994836
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys) rs1554106881
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)
NM_002160.4(TNC):c.1004G>C (p.Gly335Ala)
NM_002160.4(TNC):c.1622G>A (p.Arg541His)
NM_002160.4(TNC):c.2192A>C (p.Glu731Ala)
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
NM_002160.4(TNC):c.2795G>C (p.Gly932Ala) rs766474182
NM_002160.4(TNC):c.4490G>C (p.Gly1497Ala)
NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)
NM_002160.4(TNC):c.6496-18del rs1419724369
NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)
NM_002160.4(TNC):c.890A>G (p.Asn297Ser) rs1554717312
NM_002161.6(IARS1):c.1456G>A (p.Glu486Lys) rs1832164242
NM_002161.6(IARS1):c.2229+5G>A
NM_002161.6(IARS1):c.226G>A (p.Gly76Arg) rs372859203
NM_002161.6(IARS1):c.2422C>G (p.Arg808Gly)
NM_002161.6(IARS1):c.276+5G>A rs1835741921
NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)
NM_002161.6(IARS1):c.3005A>G (p.Asn1002Ser)
NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)
NM_002161.6(IARS1):c.3693G>C (p.Glu1231Asp) rs757811684
NM_002161.6(IARS1):c.665C>G (p.Ala222Gly) rs148530218
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.3(IGHMBP2):c.*108G>A rs1020096647
NM_002180.3(IGHMBP2):c.*226G>C rs1447465473
NM_002180.3(IGHMBP2):c.*242C>T rs543587344
NM_002180.3(IGHMBP2):c.*648G>T rs139118510
NM_002180.3(IGHMBP2):c.*698C>A rs1859711487
NM_002180.3(IGHMBP2):c.*788C>T rs886048610
NM_002180.3(IGHMBP2):c.*797T>G rs898341326
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu) rs199586231
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del) rs1858730437
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg) rs1368446033
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe) rs2154008237
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg) rs1768499175
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe) rs2154008241
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg) rs2154008248
NM_002180.3(IGHMBP2):c.1139C>T (p.Ala380Val) rs1859182151
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu) rs1859389487
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His) rs2154008602
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn) rs1859394402
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
NM_002180.3(IGHMBP2):c.1418+5G>A
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg) rs764111837
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg) rs1049595127
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala) rs772984773
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr) rs1859418981
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile) rs926718557
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val) rs1859447330
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg) rs1594452962
NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=) rs886048604
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) rs1178878248
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu) rs1859480727
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys) rs2154008764
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr) rs7122089
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val) rs1859483901
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.3(IGHMBP2):c.1720G>A (p.Ala574Thr) rs1378524388
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala) rs2154006539
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile) rs1566445855
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala) rs777841793
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile) rs779182888
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser) rs753926352
NM_002180.3(IGHMBP2):c.200T>C (p.Phe67Ser) rs1555242247
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg) rs377743886
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp) rs1859535346
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val) rs1859535801
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr) rs1859535898
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr) rs746334377
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu) rs536678728
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val) rs1042285874
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg) rs1859546493
NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=) rs139237340
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr) rs766802836
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser) rs760161861
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser) rs1464851091
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu) rs779854653
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala) rs2154006546
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg) rs755843076
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn) rs766051417
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu) rs753639706
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup) rs2154008959
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg) rs1859576991
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala) rs914944175
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr) rs1386297763
NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp) rs886048607
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) rs1064796817
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) rs145945230
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His) rs148605058
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.3(IGHMBP2):c.2785-3C>G rs1859669997
NM_002180.3(IGHMBP2):c.2785-3C>T rs1859669997
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg) rs751847212
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser) rs1859672618
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys) rs775514650
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val) rs1859674357
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn) rs2154009288
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg) rs1858277137
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys) rs865849237
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser) rs2154009308
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu) rs886048608
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val) rs886048608
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro) rs1271968797
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr) rs1858278685
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) rs1858280736
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr) rs1858281719
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) rs1004055119
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His) rs1004055119
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro) rs1594418365
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met) rs1858294631
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser) rs1566425176
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His) rs1280728139
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile) rs369509318
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg) rs752135303
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) rs863224881
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala) rs1858437723
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg) rs2154006946
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val) rs1858583764
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala) rs775600808
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr) rs1555243999
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met) rs1284064613
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg) rs1566430083
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr) rs2154007219
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile) rs2154007221
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly) rs759987473
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg) rs763867470
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
NM_002180.3(IGHMBP2):c.912+4G>A rs758392980
NM_002180.3(IGHMBP2):c.912+4G>C
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln) rs201177129
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn) rs1858724192
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) rs1858726463
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys) rs759353094
NM_002226.5(JAG2):c.1073A>T (p.Asn358Ile) rs753456166
NM_002226.5(JAG2):c.2134C>T (p.Arg712Cys) rs764146079
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser) rs2141000225
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)
NM_002226.5(JAG2):c.283A>G (p.Thr95Ala) rs1555371784
NM_002226.5(JAG2):c.2930T>C (p.Phe977Ser) rs2140971458
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys) rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp) rs867073471
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu) rs1567812900
NM_002230.4(JUP):c.*1014C>T rs1292357653
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.*18C>T rs200222165
NM_002230.4(JUP):c.*409C>G rs1025065671
NM_002230.4(JUP):c.*497A>T rs1913504384
NM_002230.4(JUP):c.*593C>T rs1913479153
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro) rs2143598327
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr) rs1567812537
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn) rs1597808088
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
NM_002230.4(JUP):c.1040C>T (p.Ala347Val) rs1915466603
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly) rs1915464336
NM_002230.4(JUP):c.1054+3G>A
NM_002230.4(JUP):c.1055-3C>G rs1597807473
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg) rs1915435636
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro) rs2143593694
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile) rs1915432778
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile) rs2143593479
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
NM_002230.4(JUP):c.1100G>A (p.Arg367His) rs782067441
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.114C>A (p.Ser38Arg) rs782391511
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp) rs1555602470
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu) rs1482026041
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
NM_002230.4(JUP):c.127A>G (p.Met43Val) rs1916678676
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
NM_002230.4(JUP):c.129G>A (p.Met43Ile) rs1555606996
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys) rs1915172914
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
NM_002230.4(JUP):c.1318C>T (p.His440Tyr) rs1555602228
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn) rs1915164389
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1346A>T (p.Asp449Val) rs1174382765
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
NM_002230.4(JUP):c.135G>C (p.Glu45Asp) rs2143735253
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
NM_002230.4(JUP):c.1398C>A (p.His466Gln) rs1555602097
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp) rs2143559758
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
NM_002230.4(JUP):c.143C>A (p.Ala48Asp) rs2143735114
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg) rs2143558258
NM_002230.4(JUP):c.1482G>C (p.Gln494His) rs1367975995
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln) rs782395614
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
NM_002230.4(JUP):c.1544A>G (p.His515Arg) rs2143460147
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr) rs2143460021
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu) rs1060502677
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu) rs1060502679
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser) rs1914314355
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser) rs782309611
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
NM_002230.4(JUP):c.1617G>A (p.Gln539=) rs1012247750
NM_002230.4(JUP):c.1619G>A (p.Arg540His) rs376881608
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1625T>C (p.Val542Ala) rs2143457194
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1653+4T>A
NM_002230.4(JUP):c.1653+5G>C
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
NM_002230.4(JUP):c.1654-7C>A rs1395283149
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn) rs2143451579
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala) rs782759301
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr) rs142006878
NM_002230.4(JUP):c.1694G>C (p.Gly565Ala)
NM_002230.4(JUP):c.1702C>T (p.His568Tyr) rs794729048
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu) rs370101446
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr) rs397517297
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
NM_002230.4(JUP):c.1718A>T (p.Asp573Val) rs886052918
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser) rs1257379135
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu) rs2143427860
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.185C>A (p.Thr62Asn) rs1555606943
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln) rs2143426682
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly) rs1914071758
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro) rs782547688
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr) rs561484928
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
NM_002230.4(JUP):c.1925-9T>A rs2143420829
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser) rs2143420466
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
NM_002230.4(JUP):c.193G>A (p.Val65Met) rs727503100
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu) rs1208908708
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
NM_002230.4(JUP):c.1954A>G (p.Ile652Val) rs2143419427
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys) rs1555598672
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
NM_002230.4(JUP):c.1990G>C (p.Val664Leu) rs782695128
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe) rs1555598615
NM_002230.4(JUP):c.1996G>T (p.Val666Leu) rs372369061
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) rs1916704473
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
NM_002230.4(JUP):c.2046T>C (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp) rs1162219431
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser) rs782475413
NM_002230.4(JUP):c.209-3del rs560947371
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg) rs1008749253
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
NM_002230.4(JUP):c.2112G>A (p.Met704Ile) rs1555597505
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
NM_002230.4(JUP):c.2118dup (p.Ser707fs) rs1913623011
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr) rs1555597496
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro) rs2143373822
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly) rs1283154446
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn) rs1555597428
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
NM_002230.4(JUP):c.21G>A (p.Met7Ile) rs782076076
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg) rs782574785
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.2232G>A (p.Leu744=) rs1913590161
NM_002230.4(JUP):c.226A>G (p.Met76Val) rs782730235
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
NM_002230.4(JUP):c.232A>G (p.Thr78Ala) rs1916308035
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.253G>C (p.Val85Leu) rs782425952
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) rs1916297521
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
NM_002230.4(JUP):c.272C>T (p.Pro91Leu) rs1567819889
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.278T>G (p.Val93Gly) rs1916292032
NM_002230.4(JUP):c.289G>C (p.Asp97His) rs2143696352
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
NM_002230.4(JUP):c.293G>A (p.Ser98Asn) rs1555605891
NM_002230.4(JUP):c.298C>T (p.Leu100Phe) rs1555605883
NM_002230.4(JUP):c.308C>G (p.Ala103Gly) rs2143695852
NM_002230.4(JUP):c.315G>T (p.Gln105His)
NM_002230.4(JUP):c.328G>A (p.Ala110Thr) rs1916275770
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
NM_002230.4(JUP):c.365T>C (p.Leu122Pro) rs2143694308
NM_002230.4(JUP):c.375G>C (p.Ser125=) rs111344340
NM_002230.4(JUP):c.379A>G (p.Ile127Val) rs1205967739
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
NM_002230.4(JUP):c.403G>C (p.Asp135His) rs1555605721
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr) rs782392706
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile) rs2143691917
NM_002230.4(JUP):c.455A>G (p.Asn152Ser) rs1555605656
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.468+18C>G
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.487G>A (p.Ala163Thr) rs782239920
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
NM_002230.4(JUP):c.500A>T (p.Asn167Ile) rs2143684902
NM_002230.4(JUP):c.505C>G (p.Leu169Val) rs1916178629
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del) rs2143684447
NM_002230.4(JUP):c.515A>G (p.Lys172Arg) rs2143684482
NM_002230.4(JUP):c.519G>A (p.Glu173=) rs1916176553
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup) rs1555605296
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.568G>T (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.579G>A (p.Met193Ile) rs1916162051
NM_002230.4(JUP):c.593A>C (p.Asp198Ala) rs1916158675
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
NM_002230.4(JUP):c.602C>T (p.Thr201Ile) rs1916155693
NM_002230.4(JUP):c.605C>T (p.Ala202Val) rs782337928
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
NM_002230.4(JUP):c.631A>C (p.Asn211His)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.650A>G (p.Glu217Gly) rs2143680736
NM_002230.4(JUP):c.652G>A (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.692T>C (p.Leu231Pro) rs782109462
NM_002230.4(JUP):c.700A>G (p.Met234Val)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.73_88del (p.Gly25fs) rs1916687478
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.745A>C (p.Thr249Pro) rs2143652715
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
NM_002230.4(JUP):c.754A>G (p.Asn252Asp) rs1915923358
NM_002230.4(JUP):c.766T>C (p.Tyr256His) rs1915921460
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
NM_002230.4(JUP):c.772G>C (p.Glu258Gln) rs1915920461
NM_002230.4(JUP):c.790G>A (p.Val264Met)
NM_002230.4(JUP):c.796C>G (p.Leu266Val) rs2143651347
NM_002230.4(JUP):c.805G>A (p.Gly269Arg) rs1915915013
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
NM_002230.4(JUP):c.817A>T (p.Met273Leu) rs2143650846
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
NM_002230.4(JUP):c.83C>T (p.Ser28Leu) rs782713414
NM_002230.4(JUP):c.856G>A (p.Ala286Thr) rs1915907385
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu) rs1915905294
NM_002230.4(JUP):c.871T>C (p.Cys291Arg) rs2143649566
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr) rs1915903369
NM_002230.4(JUP):c.874C>G (p.Leu292Val) rs1915903019
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.909+6C>A
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.926A>T (p.Asn309Ile) rs140606359
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.947T>G (p.Val316Gly) rs1915485566
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
NM_002230.4(JUP):c.973G>A (p.Glu325Lys) rs781974007
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
NM_002230.4(JUP):c.995G>A (p.Ser332Asn) rs1915476254
NM_002241.5(KCNJ10):c.*1048A>T rs1648573456
NM_002241.5(KCNJ10):c.*1258G>A rs139904051
NM_002241.5(KCNJ10):c.*1809C>T rs781009174
NM_002241.5(KCNJ10):c.*1827T>C rs886045406
NM_002241.5(KCNJ10):c.*1970GT[21] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[22] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[24] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[27] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[28] rs56656397
NM_002241.5(KCNJ10):c.*2394T>C rs116235450
NM_002241.5(KCNJ10):c.*2459T>G rs532869749
NM_002241.5(KCNJ10):c.*2896T>C rs1648528740
NM_002241.5(KCNJ10):c.*2971G>A rs886045397
NM_002241.5(KCNJ10):c.*3023T>C rs886045396
NM_002241.5(KCNJ10):c.*3840T>C rs886045393
NM_002241.5(KCNJ10):c.*729G>C rs886045410
NM_002241.5(KCNJ10):c.*793C>A rs560891462
NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val) rs1648629565
NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala) rs17853258
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763
NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg) rs1378425325
NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu) rs1571265205
NM_002292.3(LAMB2):c.-200C>T rs886058679
NM_002292.3(LAMB2):c.-252T>C rs886058681
NM_002292.3(LAMB2):c.-279A>T rs886058682
NM_002292.4(LAMB2):c.-12C>A rs768032929
NM_002292.4(LAMB2):c.-146G>T rs886058678
NM_002292.4(LAMB2):c.1000C>A (p.Arg334Ser) rs187004232
NM_002292.4(LAMB2):c.1001G>A (p.Arg334His)
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg) rs1308318910
NM_002292.4(LAMB2):c.103C>T (p.Pro35Ser)
NM_002292.4(LAMB2):c.107C>T (p.Ala36Val)
NM_002292.4(LAMB2):c.1082C>T (p.Ala361Val) rs1270231900
NM_002292.4(LAMB2):c.1117G>A (p.Val373Met)
NM_002292.4(LAMB2):c.1150C>T (p.Arg384Cys)
NM_002292.4(LAMB2):c.1168C>T (p.Arg390Trp)
NM_002292.4(LAMB2):c.116T>A (p.Val39Glu)
NM_002292.4(LAMB2):c.1183C>G (p.Arg395Gly) rs967800410
NM_002292.4(LAMB2):c.1222C>A (p.Arg408Ser) rs759728774
NM_002292.4(LAMB2):c.1223G>A (p.Arg408His)
NM_002292.4(LAMB2):c.1224C>T (p.Arg408=)
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu) rs146643686
NM_002292.4(LAMB2):c.1258G>A (p.Gly420Ser)
NM_002292.4(LAMB2):c.1262G>A (p.Gly421Asp)
NM_002292.4(LAMB2):c.1316G>A (p.Arg439His)
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg) rs1575535913
NM_002292.4(LAMB2):c.1386T>G (p.Ser462Arg)
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln) rs1166721867
NM_002292.4(LAMB2):c.1414T>C (p.Cys472Arg) rs746963326
NM_002292.4(LAMB2):c.1424G>A (p.Arg475Gln)
NM_002292.4(LAMB2):c.1433T>C (p.Val478Ala)
NM_002292.4(LAMB2):c.1459A>G (p.Asn487Asp)
NM_002292.4(LAMB2):c.1499G>A (p.Arg500His) rs759499306
NM_002292.4(LAMB2):c.1511G>A (p.Arg504His)
NM_002292.4(LAMB2):c.1518+3G>A rs2045459387
NM_002292.4(LAMB2):c.152C>T (p.Thr51Met) rs748829288
NM_002292.4(LAMB2):c.1540C>T (p.His514Tyr)
NM_002292.4(LAMB2):c.1576G>A (p.Val526Met)
NM_002292.4(LAMB2):c.1634A>C (p.Gln545Pro)
NM_002292.4(LAMB2):c.1637A>T (p.His546Leu)
NM_002292.4(LAMB2):c.1652G>A (p.Arg551His)
NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg) rs2045454131
NM_002292.4(LAMB2):c.1668A>C (p.Gln556His) rs2045453433
NM_002292.4(LAMB2):c.173G>A (p.Arg58Gln) rs2107645705
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys) rs369408727
NM_002292.4(LAMB2):c.1799T>C (p.Val600Ala)
NM_002292.4(LAMB2):c.1825G>C (p.Glu609Gln) rs888403715
NM_002292.4(LAMB2):c.1831C>T (p.Leu611=) rs886058676
NM_002292.4(LAMB2):c.1855A>G (p.Met619Val)
NM_002292.4(LAMB2):c.1901A>C (p.Gln634Pro)
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val) rs766047117
NM_002292.4(LAMB2):c.1937G>A (p.Gly646Glu)
NM_002292.4(LAMB2):c.1945C>T (p.Pro649Ser)
NM_002292.4(LAMB2):c.1971G>A (p.Leu657=) rs777566654
NM_002292.4(LAMB2):c.1980G>A (p.Lys660=) rs2107642118
NM_002292.4(LAMB2):c.1987C>T (p.Arg663Cys)
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=) rs748124251
NM_002292.4(LAMB2):c.2063C>G (p.Ser688Cys)
NM_002292.4(LAMB2):c.2068A>C (p.Lys690Gln) rs1231932718
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro) rs369063535
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala) rs142860588
NM_002292.4(LAMB2):c.2102G>T (p.Ser701Ile)
NM_002292.4(LAMB2):c.2150C>T (p.Ser717Leu) rs374417189
NM_002292.4(LAMB2):c.2151G>A (p.Ser717=)
NM_002292.4(LAMB2):c.2154G>A (p.Leu718=) rs886058675
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His) rs764955129
NM_002292.4(LAMB2):c.2167C>G (p.Arg723Gly)
NM_002292.4(LAMB2):c.2170G>T (p.Val724Phe) rs1466437719
NM_002292.4(LAMB2):c.217C>G (p.Pro73Ala) rs1409779718
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu) rs781721930
NM_002292.4(LAMB2):c.2222A>C (p.Gln741Pro)
NM_002292.4(LAMB2):c.2224G>A (p.Ala742Thr) rs959473971
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu) rs1560073886
NM_002292.4(LAMB2):c.2270G>A (p.Ser757Asn)
NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro) rs752188860
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr) rs1481245527
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp) rs200858061
NM_002292.4(LAMB2):c.2339C>T (p.Ala780Val) rs2107640102
NM_002292.4(LAMB2):c.2344+4_2344+7del rs774329010
NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser) rs199837675
NM_002292.4(LAMB2):c.2352G>T (p.Gln784His)
NM_002292.4(LAMB2):c.2357A>G (p.Asn786Ser)
NM_002292.4(LAMB2):c.2364_2393del (p.Gln788_Pro797del) rs2107640007
NM_002292.4(LAMB2):c.2390C>G (p.Pro797Arg)
NM_002292.4(LAMB2):c.2398G>A (p.Gly800Ser)
NM_002292.4(LAMB2):c.2408T>C (p.Leu803Pro) rs200477330
NM_002292.4(LAMB2):c.241C>T (p.His81Tyr)
NM_002292.4(LAMB2):c.2420G>T (p.Gly807Val) rs200740666
NM_002292.4(LAMB2):c.2429G>A (p.Gly810Glu)
NM_002292.4(LAMB2):c.2450C>T (p.Ala817Val)
NM_002292.4(LAMB2):c.2473C>T (p.Pro825Ser)
NM_002292.4(LAMB2):c.2480G>T (p.Gly827Val)
NM_002292.4(LAMB2):c.2488+12C>A
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val) rs2045403063
NM_002292.4(LAMB2):c.249+3G>A
NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg) rs2107639681
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg) rs950013669
NM_002292.4(LAMB2):c.2552T>C (p.Leu851Pro)
NM_002292.4(LAMB2):c.2558G>A (p.Arg853Gln) rs774703538
NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu) rs774703538
NM_002292.4(LAMB2):c.2573G>A (p.Gly858Glu)
NM_002292.4(LAMB2):c.2597G>C (p.Arg866Pro) rs745441757
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn) rs149408554
NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser) rs200108816
NM_002292.4(LAMB2):c.2630G>T (p.Cys877Phe) rs2107639559
NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr) rs751697643
NM_002292.4(LAMB2):c.2698A>G (p.Thr900Ala)
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala) rs781530275
NM_002292.4(LAMB2):c.2711A>G (p.His904Arg) rs1238240581
NM_002292.4(LAMB2):c.2713T>C (p.Cys905Arg)
NM_002292.4(LAMB2):c.2756C>T (p.Pro919Leu)
NM_002292.4(LAMB2):c.2765G>T (p.Gly922Val)
NM_002292.4(LAMB2):c.2798C>G (p.Pro933Arg) rs2045396597
NM_002292.4(LAMB2):c.283C>A (p.Arg95Ser)
NM_002292.4(LAMB2):c.283C>T (p.Arg95Cys)
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro) rs147691227
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe) rs146962414
NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp) rs1376202280
NM_002292.4(LAMB2):c.2879A>G (p.Tyr960Cys)
NM_002292.4(LAMB2):c.2883G>C (p.Thr961=) rs1205212867
NM_002292.4(LAMB2):c.2884+15del rs769133638
NM_002292.4(LAMB2):c.2923G>A (p.Asp975Asn)
NM_002292.4(LAMB2):c.2936C>G (p.Pro979Arg) rs1575532774
NM_002292.4(LAMB2):c.2957G>A (p.Cys986Tyr) rs2045393494
NM_002292.4(LAMB2):c.3012G>A (p.Thr1004=)
NM_002292.4(LAMB2):c.3025C>T (p.Arg1009Cys)
NM_002292.4(LAMB2):c.302A>G (p.Asp101Gly)
NM_002292.4(LAMB2):c.3036C>T (p.His1012=) rs777538430
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg) rs2045392366
NM_002292.4(LAMB2):c.3052C>G (p.His1018Asp)
NM_002292.4(LAMB2):c.3059C>A (p.Ala1020Asp) rs780053995
NM_002292.4(LAMB2):c.3095G>A (p.Arg1032Gln)
NM_002292.4(LAMB2):c.3110-3C>T rs2045390515
NM_002292.4(LAMB2):c.3154T>C (p.Ser1052Pro) rs2107638715
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del) rs756027369
NM_002292.4(LAMB2):c.3170A>G (p.His1057Arg) rs2107638700
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His) rs1553778039
NM_002292.4(LAMB2):c.3198A>G (p.Pro1066=) rs886058673
NM_002292.4(LAMB2):c.3200G>A (p.Cys1067Tyr)
NM_002292.4(LAMB2):c.3241C>T (p.Pro1081Ser) rs1247420057
NM_002292.4(LAMB2):c.3403G>C (p.Asp1135His)
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp) rs1404267963
NM_002292.4(LAMB2):c.3424+15G>A
NM_002292.4(LAMB2):c.3425-7C>A rs2045383891
NM_002292.4(LAMB2):c.3425C>G (p.Ala1142Gly)
NM_002292.4(LAMB2):c.3427T>C (p.Cys1143Arg) rs774018819
NM_002292.4(LAMB2):c.3464G>A (p.Cys1155Tyr)
NM_002292.4(LAMB2):c.3493C>T (p.Arg1165Cys) rs746391965
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala) rs765996794
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr) rs760892618
NM_002292.4(LAMB2):c.3583G>T (p.Gly1195Trp)
NM_002292.4(LAMB2):c.3598G>C (p.Val1200Leu)
NM_002292.4(LAMB2):c.3612G>C (p.Leu1204Phe)
NM_002292.4(LAMB2):c.3613G>A (p.Ala1205Thr) rs953343840
NM_002292.4(LAMB2):c.3628C>T (p.Arg1210Cys)
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly) rs140456179
NM_002292.4(LAMB2):c.3659A>T (p.Gln1220Leu) rs2107638059
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val) rs1447852720
NM_002292.4(LAMB2):c.3764C>G (p.Thr1255Ser)
NM_002292.4(LAMB2):c.3800G>A (p.Arg1267His)
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys) rs1560071889
NM_002292.4(LAMB2):c.3842C>T (p.Ala1281Val)
NM_002292.4(LAMB2):c.3856G>A (p.Val1286Met)
NM_002292.4(LAMB2):c.3875A>G (p.Asn1292Ser) rs148246465
NM_002292.4(LAMB2):c.3887C>T (p.Ala1296Val) rs1260666701
NM_002292.4(LAMB2):c.3928A>C (p.Thr1310Pro) rs2045374454
NM_002292.4(LAMB2):c.3935G>A (p.Arg1312Gln)
NM_002292.4(LAMB2):c.396G>A (p.Ala132=)
NM_002292.4(LAMB2):c.3989A>G (p.Tyr1330Cys)
NM_002292.4(LAMB2):c.3995G>A (p.Ser1332Asn) rs980152482
NM_002292.4(LAMB2):c.4001G>A (p.Arg1334Gln) rs144783830
NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg) rs775944984
NM_002292.4(LAMB2):c.4007C>G (p.Ala1336Gly) rs886058672
NM_002292.4(LAMB2):c.4007C>T (p.Ala1336Val) rs886058672
NM_002292.4(LAMB2):c.4013G>A (p.Ser1338Asn)
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys) rs775469931
NM_002292.4(LAMB2):c.4039G>A (p.Ala1347Thr) rs2107637483
NM_002292.4(LAMB2):c.4067G>A (p.Ser1356Asn) rs2045371078
NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly) rs2107637455
NM_002292.4(LAMB2):c.4093C>T (p.Arg1365Trp)
NM_002292.4(LAMB2):c.4133A>G (p.Asp1378Gly)
NM_002292.4(LAMB2):c.4134C>T (p.Asp1378=) rs774234171
NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu) rs781135874
NM_002292.4(LAMB2):c.4171G>C (p.Gly1391Arg)
NM_002292.4(LAMB2):c.4212C>A (p.Asp1404Glu)
NM_002292.4(LAMB2):c.4304C>G (p.Pro1435Arg)
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg) rs1575531255
NM_002292.4(LAMB2):c.4349A>G (p.Asp1450Gly) rs2107637062
NM_002292.4(LAMB2):c.4364G>C (p.Arg1455Pro)
NM_002292.4(LAMB2):c.4394G>A (p.Arg1465Gln)
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr) rs1377720264
NM_002292.4(LAMB2):c.4442G>A (p.Arg1481His)
NM_002292.4(LAMB2):c.4460C>T (p.Ala1487Val) rs2107636624
NM_002292.4(LAMB2):c.4488C>A (p.Asp1496Glu)
NM_002292.4(LAMB2):c.4498G>C (p.Ala1500Pro) rs1029156575
NM_002292.4(LAMB2):c.4553G>A (p.Ser1518Asn)
NM_002292.4(LAMB2):c.4573+6C>T
NM_002292.4(LAMB2):c.4666G>A (p.Ala1556Thr)
NM_002292.4(LAMB2):c.4673C>T (p.Ala1558Val)
NM_002292.4(LAMB2):c.4678G>A (p.Ala1560Thr) rs768495334
NM_002292.4(LAMB2):c.4689C>T (p.Val1563=) rs2045317445
NM_002292.4(LAMB2):c.469C>T (p.Pro157Ser) rs2107644945
NM_002292.4(LAMB2):c.4702G>A (p.Asp1568Asn)
NM_002292.4(LAMB2):c.4729G>A (p.Val1577Ile)
NM_002292.4(LAMB2):c.473C>G (p.Ala158Gly)
NM_002292.4(LAMB2):c.4744C>T (p.Arg1582Cys)
NM_002292.4(LAMB2):c.4751A>G (p.Glu1584Gly) rs768491835
NM_002292.4(LAMB2):c.4753C>A (p.Gln1585Lys)
NM_002292.4(LAMB2):c.4778C>A (p.Ala1593Glu) rs1011098102
NM_002292.4(LAMB2):c.478A>G (p.Met160Val) rs2045483964
NM_002292.4(LAMB2):c.4802A>T (p.Lys1601Ile)
NM_002292.4(LAMB2):c.4816A>G (p.Thr1606Ala)
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys) rs1560066776
NM_002292.4(LAMB2):c.4837G>A (p.Glu1613Lys)
NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp) rs1318044416
NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser)
NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro) rs752674803
NM_002292.4(LAMB2):c.4898G>A (p.Arg1633Gln)
NM_002292.4(LAMB2):c.490C>T (p.Arg164Cys)
NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys) rs2045287048
NM_002292.4(LAMB2):c.491G>A (p.Arg164His) rs1187799924
NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp) rs1271985841
NM_002292.4(LAMB2):c.4943G>T (p.Gly1648Val)
NM_002292.4(LAMB2):c.494C>T (p.Ser165Leu) rs2107644925
NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu) rs2045271641
NM_002292.4(LAMB2):c.496G>A (p.Ala166Thr)
NM_002292.4(LAMB2):c.4982G>A (p.Arg1661Gln)
NM_002292.4(LAMB2):c.5100+6T>C
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys) rs752667133
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His) rs1188203180
NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr) rs2107624064
NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val) rs2045242099
NM_002292.4(LAMB2):c.5188_5193del (p.Arg1730_Ala1731del)
NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala) rs2107623479
NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro) rs1416518681
NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly) rs777643155
NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln) rs1575524600
NM_002292.4(LAMB2):c.52C>T (p.Leu18Phe)
NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys) rs2045220448
NM_002292.4(LAMB2):c.5350C>T (p.Leu1784Phe) rs2045219198
NM_002292.4(LAMB2):c.539A>G (p.Tyr180Cys) rs1335383406
NM_002292.4(LAMB2):c.560C>A (p.Pro187Gln)
NM_002292.4(LAMB2):c.563G>A (p.Gly188Glu) rs2045483102
NM_002292.4(LAMB2):c.584G>A (p.Arg195Gln)
NM_002292.4(LAMB2):c.594T>G (p.Asp198Glu) rs1344838792
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr) rs1575537041
NM_002292.4(LAMB2):c.624G>T (p.Glu208Asp)
NM_002292.4(LAMB2):c.656A>G (p.Tyr219Cys)
NM_002292.4(LAMB2):c.659G>A (p.Arg220His)
NM_002292.4(LAMB2):c.661G>T (p.Val221Leu) rs748711014
NM_002292.4(LAMB2):c.682A>G (p.Ile228Val)
NM_002292.4(LAMB2):c.701C>T (p.Ser234Leu) rs2107644618
NM_002292.4(LAMB2):c.704G>A (p.Arg235Gln)
NM_002292.4(LAMB2):c.704G>T (p.Arg235Leu) rs767154519
NM_002292.4(LAMB2):c.731A>C (p.Asn244Thr)
NM_002292.4(LAMB2):c.740T>C (p.Val247Ala) rs747693090
NM_002292.4(LAMB2):c.781G>A (p.Asp261Asn)
NM_002292.4(LAMB2):c.781G>T (p.Asp261Tyr)
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala) rs903021924
NM_002292.4(LAMB2):c.824A>C (p.Tyr275Ser) rs2107644271
NM_002292.4(LAMB2):c.839G>A (p.Arg280His)
NM_002292.4(LAMB2):c.881C>A (p.Pro294His) rs536441871
NM_002292.4(LAMB2):c.883G>A (p.Ala295Thr)
NM_002292.4(LAMB2):c.889G>A (p.Gly297Arg) rs2107644171
NM_002292.4(LAMB2):c.903T>A (p.His301Gln) rs565877727
NM_002292.4(LAMB2):c.916-10A>G
NM_002292.4(LAMB2):c.916-4A>G rs886058677
NM_002292.4(LAMB2):c.986G>A (p.Arg329His)
NM_002335.4(LRP5):c.1412+11C>T rs202149761
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly) rs2098614549
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser) rs2098653807
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) rs1554969579
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His) rs2153162994
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) rs780882911
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) rs1470530779
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) rs775353605
NM_002335.4(LRP5):c.2318+3_2318+6del rs1292196959
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) rs778567335
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His) rs936323278
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) rs559129140
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn) rs147758521
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu) rs61889560
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys) rs753926639
NM_002335.4(LRP5):c.3237-16C>A rs748779058
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His) rs560826688
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del) rs72555376
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) rs148217741
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg) rs764259701
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) rs968164869
NM_002335.4(LRP5):c.4001-15G>A rs2098675288
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro) rs150088620
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile) rs2098675334
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn) rs1008752977
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr) rs2153181249
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr) rs2153181307
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys) rs931583330
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His) rs764447598
NM_002335.4(LRP5):c.527T>A (p.Ile176Asn)
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu) rs549579496
NM_002335.4(LRP5):c.787T>C (p.Cys263Arg) rs2153139472
NM_002388.6(MCM3):c.2282A>T (p.Gln761Leu) rs764129051
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) rs2126751184
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) rs776598893
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) rs1405292334
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1401T>G (p.His467Gln) rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) rs1737830740
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) rs2126793498
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) rs2126793764
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) rs752471011
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) rs939239779
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) rs2126814266
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) rs1739209079
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) rs775031794
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) rs2126675683
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu) rs770923981
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) rs2126693065
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) rs748186027
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) rs371860776
NM_002454.3(MTRR):c.781-5T>G rs2126727387
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) rs750009895
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) rs776031136
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) rs2126745139
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) rs771300756
NM_002470.4(MYH3):c.5457G>C (p.Arg1819Ser) rs2142378109
NM_002473.6(MYH9):c.*107A>G rs886057476
NM_002473.6(MYH9):c.*1099A>T rs886057471
NM_002473.6(MYH9):c.*1193A>G rs886057470
NM_002473.6(MYH9):c.*248C>T rs2016505869
NM_002473.6(MYH9):c.*273C>T rs1021214858
NM_002473.6(MYH9):c.*639C>T rs554451749
NM_002473.6(MYH9):c.*975A>G rs886057473
NM_002473.6(MYH9):c.-163C>G rs886057486
NM_002473.6(MYH9):c.-86G>T rs2018382496
NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser) rs1464752413
NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu) rs56001030
NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) rs2017727253
NM_002473.6(MYH9):c.1273A>T (p.Met425Leu) rs961182177
NM_002473.6(MYH9):c.1539C>A (p.Asp513Glu) rs886057484
NM_002473.6(MYH9):c.1555-15C>T rs2017076105
NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr) rs2017075745
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2038-4C>G rs200135917
NM_002473.6(MYH9):c.2161_2165del
NM_002473.6(MYH9):c.2230-11C>A rs374467213
NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser) rs757850500
NM_002473.6(MYH9):c.2391-7C>T rs886057483
NM_002473.6(MYH9):c.2442G>A (p.Arg814=) rs113783861
NM_002473.6(MYH9):c.2653C>T (p.Leu885=) rs2016868693
NM_002473.6(MYH9):c.3136C>G (p.Leu1046Val) rs886057482
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys) rs2146338775
NM_002473.6(MYH9):c.333+14G>A rs768688000
NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys) rs770864107
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) rs200697030
NM_002473.6(MYH9):c.3677G>C (p.Arg1226Pro) rs200697030
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu) rs959272684
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) rs147031322
NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn) rs778278736
NM_002473.6(MYH9):c.3884A>G (p.Lys1295Arg) rs886057480
NM_002473.6(MYH9):c.4126A>G (p.Ser1376Gly) rs771692651
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) rs2016713858
NM_002473.6(MYH9):c.445C>A (p.His149Asn) rs2017588115
NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr) rs2016643084
NM_002473.6(MYH9):c.4474A>G (p.Lys1492Glu) rs750188842
NM_002473.6(MYH9):c.448A>G (p.Ile150Val) rs2017587954
NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)
NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys) rs886057479
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) rs770925540
NM_002473.6(MYH9):c.4855C>T (p.Leu1619=) rs778679056
NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp) rs1035118799
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002473.6(MYH9):c.5271G>T (p.Leu1757=) rs886057478
NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr) rs1455355336
NM_002473.6(MYH9):c.5593-14G>A rs201676960
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_002485.4(NBN):c.(?_-1)_(*1_?)dup
NM_002485.5(NBN):c.*1220C>G rs1040887182
NM_002485.5(NBN):c.*1297T>G rs547479870
NM_002485.5(NBN):c.*1400C>T rs532490798
NM_002485.5(NBN):c.*1562A>G rs1809551804
NM_002485.5(NBN):c.*1642A>G rs769415813
NM_002485.5(NBN):c.*1869_*1872del rs886063163
NM_002485.5(NBN):c.*226T>C rs886063166
NM_002485.5(NBN):c.*364_*393del rs1554553737
NM_002485.5(NBN):c.*680A>G rs1809594322
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.-3C>T rs1276313619
NM_002485.5(NBN):c.-46C>A rs751549166
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del) rs770500095
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup) rs770500095
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala) rs1554560506
NM_002485.5(NBN):c.1007C>T (p.Thr336Ile) rs876660218
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.5(NBN):c.1013C>T (p.Pro338Leu) rs2129746873
NM_002485.5(NBN):c.1018C>G (p.Pro340Ala) rs1586066127
NM_002485.5(NBN):c.1018C>T (p.Pro340Ser) rs1586066127
NM_002485.5(NBN):c.101T>G (p.Leu34Arg) rs1012390181
NM_002485.5(NBN):c.1022G>A (p.Ser341Asn)
NM_002485.5(NBN):c.1022G>T (p.Ser341Ile)
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe) rs587782656
NM_002485.5(NBN):c.1025T>G (p.Leu342Arg) rs1810857038
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu) rs1810856747
NM_002485.5(NBN):c.102_103delinsAT (p.Ile35Phe)
NM_002485.5(NBN):c.1031A>G (p.Gln344Arg) rs2129746440
NM_002485.5(NBN):c.1034G>A (p.Gly345Asp) rs587780089
NM_002485.5(NBN):c.1034G>C (p.Gly345Ala) rs587780089
NM_002485.5(NBN):c.1037T>C (p.Val346Ala) rs2129746243
NM_002485.5(NBN):c.1039T>C (p.Ser347Pro) rs1563539035
NM_002485.5(NBN):c.103A>T (p.Ile35Phe) rs2129925202
NM_002485.5(NBN):c.1042G>A (p.Val348Ile) rs1586065979
NM_002485.5(NBN):c.1042G>C (p.Val348Leu)
NM_002485.5(NBN):c.1042G>T (p.Val348Phe)
NM_002485.5(NBN):c.1043T>C (p.Val348Ala) rs876660929
NM_002485.5(NBN):c.1046A>T (p.Asp349Val) rs876659431
NM_002485.5(NBN):c.1057A>C (p.Met353Leu) rs864622489
NM_002485.5(NBN):c.1057A>G (p.Met353Val) rs864622489
NM_002485.5(NBN):c.1058T>C (p.Met353Thr) rs1028462350
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.1060C>G (p.Pro354Ala) rs1064794336
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys) rs762376159
NM_002485.5(NBN):c.1064G>A (p.Ser355Asn)
NM_002485.5(NBN):c.1065C>A (p.Ser355Arg)
NM_002485.5(NBN):c.1066G>T (p.Ala356Ser)
NM_002485.5(NBN):c.1073T>G (p.Val358Gly) rs1563538793
NM_002485.5(NBN):c.1078A>C (p.Thr360Pro) rs1307700838
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser) rs879020505
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.5(NBN):c.1082C>T (p.Thr361Ile) rs2129745254
NM_002485.5(NBN):c.1084A>G (p.Thr362Ala) rs1810850707
NM_002485.5(NBN):c.1085C>T (p.Thr362Ile)
NM_002485.5(NBN):c.1090G>T (p.Val364Leu) rs765403660
NM_002485.5(NBN):c.1097A>G (p.Asp366Gly) rs2129744939
NM_002485.5(NBN):c.1099_1104del (p.Thr367_Glu368del)
NM_002485.5(NBN):c.109A>G (p.Asn37Asp) rs876658411
NM_002485.5(NBN):c.10C>A (p.Leu4Met)
NM_002485.5(NBN):c.10C>G (p.Leu4Val) rs1426394881
NM_002485.5(NBN):c.1100C>G (p.Thr367Arg) rs1586065643
NM_002485.5(NBN):c.1102G>C (p.Glu368Gln) rs2129744825
NM_002485.5(NBN):c.1103A>G (p.Glu368Gly)
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.5(NBN):c.1105T>C (p.Ser369Pro) rs2129744768
NM_002485.5(NBN):c.1106C>T (p.Ser369Leu)
NM_002485.5(NBN):c.1108G>A (p.Glu370Lys)
NM_002485.5(NBN):c.1114G>A (p.Ala372Thr) rs1377878017
NM_002485.5(NBN):c.1115C>T (p.Ala372Val) rs587781438
NM_002485.5(NBN):c.1118A>G (p.Asp373Gly) rs1563538492
NM_002485.5(NBN):c.111T>A (p.Asn37Lys)
NM_002485.5(NBN):c.1120A>G (p.Thr374Ala) rs1563538477
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.1124+18_1124+19delinsTT rs1554560320
NM_002485.5(NBN):c.1124+4A>T
NM_002485.5(NBN):c.1124+5A>T rs587782108
NM_002485.5(NBN):c.1124+6G>A rs375862750
NM_002485.5(NBN):c.1124G>C (p.Trp375Ser) rs1394437421
NM_002485.5(NBN):c.1125G>C (p.Trp375Cys)
NM_002485.5(NBN):c.1129T>G (p.Leu377Val) rs587780547
NM_002485.5(NBN):c.112G>T (p.Asp38Tyr)
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly) rs1563532732
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly) rs1810674788
NM_002485.5(NBN):c.113A>T (p.Asp38Val) rs2129925061
NM_002485.5(NBN):c.1141C>A (p.Pro381Thr) rs2129722201
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn) rs1554559357
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln) rs772909239
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu) rs1563532612
NM_002485.5(NBN):c.1156G>A (p.Val386Ile)
NM_002485.5(NBN):c.1156G>T (p.Val386Phe) rs1586059509
NM_002485.5(NBN):c.1157T>G (p.Val386Gly) rs1810672909
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.115C>G (p.Gln39Glu) rs377730553
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu) rs1252203605
NM_002485.5(NBN):c.1166T>C (p.Met389Thr) rs1810671504
NM_002485.5(NBN):c.1167G>A (p.Met389Ile)
NM_002485.5(NBN):c.116A>G (p.Gln39Arg)
NM_002485.5(NBN):c.116A>T (p.Gln39Leu) rs765551184
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg) rs201958895
NM_002485.5(NBN):c.1180A>G (p.Arg394Gly) rs1060503470
NM_002485.5(NBN):c.1181G>A (p.Arg394Lys) rs1810670587
NM_002485.5(NBN):c.1181G>T (p.Arg394Ile)
NM_002485.5(NBN):c.1183A>G (p.Met395Val)
NM_002485.5(NBN):c.1184T>C (p.Met395Thr)
NM_002485.5(NBN):c.1187T>C (p.Leu396Pro) rs182030463
NM_002485.5(NBN):c.1190C>T (p.Ser397Leu) rs1554559308
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1196A>G (p.Asp399Gly)
NM_002485.5(NBN):c.1197_1198delinsCT (p.Ala400Ser) rs1064795318
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
NM_002485.5(NBN):c.1198G>C (p.Ala400Pro) rs551602980
NM_002485.5(NBN):c.1199C>G (p.Ala400Gly) rs779218232
NM_002485.5(NBN):c.1199C>T (p.Ala400Val) rs779218232
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.1201C>A (p.Pro401Thr)
NM_002485.5(NBN):c.1202C>A (p.Pro401His) rs104895033
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1205_1209del (p.Thr402fs) rs1563532144
NM_002485.5(NBN):c.1208T>A (p.Val403Glu) rs1554559273
NM_002485.5(NBN):c.1210A>G (p.Lys404Glu) rs761214266
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys) rs1810666621
NM_002485.5(NBN):c.1217C>A (p.Ser406Tyr) rs1810666233
NM_002485.5(NBN):c.1219T>A (p.Cys407Ser) rs1060503460
NM_002485.5(NBN):c.121A>G (p.Ile41Val) rs1563584220
NM_002485.5(NBN):c.121A>T (p.Ile41Phe) rs1563584220
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr) rs1473253247
NM_002485.5(NBN):c.1221C>G (p.Cys407Trp)
NM_002485.5(NBN):c.1225A>G (p.Thr409Ala)
NM_002485.5(NBN):c.1226C>T (p.Thr409Ile) rs1810665559
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.5(NBN):c.1229G>A (p.Ser410Asn) rs982325971
NM_002485.5(NBN):c.1229G>T (p.Ser410Ile) rs982325971
NM_002485.5(NBN):c.122T>C (p.Ile41Thr) rs1554569074
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg) rs878854504
NM_002485.5(NBN):c.1231T>C (p.Ser411Pro) rs1563531982
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.5(NBN):c.1235A>G (p.Asn412Ser)
NM_002485.5(NBN):c.1235ATA[2] (p.Asn414del) rs1563531915
NM_002485.5(NBN):c.1236T>A (p.Asn412Lys)
NM_002485.5(NBN):c.1237A>G (p.Asn413Asp) rs1810664293
NM_002485.5(NBN):c.123C>G (p.Ile41Met) rs887413615
NM_002485.5(NBN):c.1241A>G (p.Asn414Ser) rs1554559235
NM_002485.5(NBN):c.1243A>C (p.Ser415Arg)
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle) rs587781532
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn) rs764832388
NM_002485.5(NBN):c.1245T>G (p.Ser415Arg) rs776180689
NM_002485.5(NBN):c.1246A>T (p.Met416Leu) rs1554559222
NM_002485.5(NBN):c.1248G>A (p.Met416Ile) rs756572268
NM_002485.5(NBN):c.1249G>C (p.Val417Leu) rs768087330
NM_002485.5(NBN):c.1249G>T (p.Val417Leu) rs768087330
NM_002485.5(NBN):c.1250T>C (p.Val417Ala) rs1554559216
NM_002485.5(NBN):c.1250T>G (p.Val417Gly) rs1554559216
NM_002485.5(NBN):c.1253C>T (p.Ser418Leu) rs1554559212
NM_002485.5(NBN):c.1255A>C (p.Asn419His) rs730881849
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp) rs730881849
NM_002485.5(NBN):c.1259C>G (p.Thr420Ser)
NM_002485.5(NBN):c.1264G>A (p.Ala422Thr) rs1336243918
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser) rs1336243918
NM_002485.5(NBN):c.1265C>G (p.Ala422Gly) rs1810660625
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg) rs1444306607
NM_002485.5(NBN):c.1272G>A (p.Met424Ile)
NM_002485.5(NBN):c.1272G>T (p.Met424Ile)
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.5(NBN):c.1274G>C (p.Arg425Thr) rs1060503478
NM_002485.5(NBN):c.1275A>T (p.Arg425Ser) rs916556331
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile) rs1406123091
NM_002485.5(NBN):c.1284C>G (p.Asn428Lys) rs1586058745
NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser) rs370121348
NM_002485.5(NBN):c.1286A>G (p.Tyr429Cys) rs370121348
NM_002485.5(NBN):c.1289A>G (p.Gln430Arg) rs1563531531
NM_002485.5(NBN):c.128G>T (p.Arg43Leu) rs759146120
NM_002485.5(NBN):c.1290G>C (p.Gln430His) rs1554559149
NM_002485.5(NBN):c.1291C>T (p.Leu431Phe) rs1586058701
NM_002485.5(NBN):c.1292_1297del (p.Leu431_Ser432del)
NM_002485.5(NBN):c.1295C>T (p.Ser432Leu) rs1258938703
NM_002485.5(NBN):c.1298C>G (p.Pro433Arg) rs1554559140
NM_002485.5(NBN):c.1300A>C (p.Thr434Pro)
NM_002485.5(NBN):c.1301C>A (p.Thr434Asn) rs757452107
NM_002485.5(NBN):c.1301C>G (p.Thr434Ser) rs757452107
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1309C>T (p.Pro437Ser) rs1810656128
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly) rs1456827107
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn) rs786203131
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile) rs786203131
NM_002485.5(NBN):c.1322A>C (p.Lys441Thr) rs1329281031
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly) rs1554559097
NM_002485.5(NBN):c.1327A>G (p.Lys443Glu) rs1554559094
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.5(NBN):c.1335G>C (p.Arg445Ser) rs1554559085
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser) rs1554559085
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr) rs1586058411
NM_002485.5(NBN):c.133C>T (p.His45Tyr) rs773865323
NM_002485.5(NBN):c.1349A>C (p.Gln450Pro) rs776210901
NM_002485.5(NBN):c.1349A>G (p.Gln450Arg) rs776210901
NM_002485.5(NBN):c.1352A>C (p.Gln451Pro) rs1554559068
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg) rs1554559068
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro) rs1554559065
NM_002485.5(NBN):c.1353G>C (p.Gln451His) rs1554559063
NM_002485.5(NBN):c.1355C>T (p.Thr452Ile) rs1810650900
NM_002485.5(NBN):c.1358A>C (p.Asn453Thr)
NM_002485.5(NBN):c.1363A>G (p.Ile455Val) rs1554559041
NM_002485.5(NBN):c.1365C>G (p.Ile455Met) rs1810649752
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly) rs1586058203
NM_002485.5(NBN):c.1368A>C (p.Arg456Ser) rs1554559036
NM_002485.5(NBN):c.1369A>G (p.Asn457Asp) rs1554559034
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu) rs1397458119
NM_002485.5(NBN):c.1379A>G (p.Gln460Arg) rs2129716929
NM_002485.5(NBN):c.1381C>T (p.Pro461Ser) rs1554559015
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe) rs1563530730
NM_002485.5(NBN):c.1387A>G (p.Thr463Ala) rs745821964
NM_002485.5(NBN):c.1388C>T (p.Thr463Ile) rs2129716704
NM_002485.5(NBN):c.1390A>G (p.Lys464Glu) rs2129716633
NM_002485.5(NBN):c.1391A>G (p.Lys464Arg) rs2129716605
NM_002485.5(NBN):c.1393A>G (p.Lys465Glu)
NM_002485.5(NBN):c.1394A>G (p.Lys465Arg)
NM_002485.5(NBN):c.1396A>C (p.Arg466=)
NM_002485.5(NBN):c.1396A>G (p.Arg466Gly) rs1810646211
NM_002485.5(NBN):c.1396A>T (p.Arg466Trp)
NM_002485.5(NBN):c.1397+4T>C rs770699381
NM_002485.5(NBN):c.1397+4T>G rs770699381
NM_002485.5(NBN):c.1397+5G>C rs1060503489
NM_002485.5(NBN):c.1397+6_1397+11del
NM_002485.5(NBN):c.1398-5C>G rs2129704548
NM_002485.5(NBN):c.1398-7A>G rs1563527772
NM_002485.5(NBN):c.139G>C (p.Val47Leu) rs876658446
NM_002485.5(NBN):c.13C>G (p.Leu5Val) rs1563588747
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys) rs781213350
NM_002485.5(NBN):c.1403G>C (p.Arg468Thr) rs781213350
NM_002485.5(NBN):c.1404G>C (p.Arg468Ser) rs730881851
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn) rs148205441
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly) rs780365310
NM_002485.5(NBN):c.1409A>G (p.Glu470Gly) rs876660501
NM_002485.5(NBN):c.1410A>G (p.Glu470=) rs1554558592
NM_002485.5(NBN):c.1413A>C (p.Glu471Asp) rs1554558584
NM_002485.5(NBN):c.1414A>T (p.Asn472Tyr) rs2129704060
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.5(NBN):c.1423A>T (p.Met475Leu) rs767106269
NM_002485.5(NBN):c.1424T>C (p.Met475Thr)
NM_002485.5(NBN):c.1425G>A (p.Met475Ile) rs1180796619
NM_002485.5(NBN):c.1425G>C (p.Met475Ile) rs1180796619
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro) rs1586054780
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser) rs1199013619
NM_002485.5(NBN):c.1432T>C (p.Cys478Arg) rs1199013619
NM_002485.5(NBN):c.1432T>G (p.Cys478Gly) rs1199013619
NM_002485.5(NBN):c.1435A>C (p.Lys479Gln)
NM_002485.5(NBN):c.1436A>G (p.Lys479Arg) rs786202028
NM_002485.5(NBN):c.1438T>C (p.Ser480Pro) rs2129703628
NM_002485.5(NBN):c.143T>C (p.Leu48Ser)
NM_002485.5(NBN):c.1441G>C (p.Ala481Pro) rs2129703568
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly) rs886063168
NM_002485.5(NBN):c.1445G>A (p.Arg482Lys) rs775451862
NM_002485.5(NBN):c.1445G>T (p.Arg482Ile)
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr) rs876658347
NM_002485.5(NBN):c.1448T>G (p.Ile483Arg) rs876658347
NM_002485.5(NBN):c.1449A>G (p.Ile483Met) rs1586054662
NM_002485.5(NBN):c.1453A>G (p.Thr485Ala) rs1586054649
NM_002485.5(NBN):c.1453A>T (p.Thr485Ser) rs1586054649
NM_002485.5(NBN):c.1454C>A (p.Thr485Lys) rs200891292
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1459T>C (p.Cys487Arg) rs2129703194
NM_002485.5(NBN):c.1460G>A (p.Cys487Tyr) rs587782118
NM_002485.5(NBN):c.1460G>T (p.Cys487Phe)
NM_002485.5(NBN):c.1463C>A (p.Ser488Tyr) rs1060503472
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys) rs1060503472
NM_002485.5(NBN):c.1465C>T (p.Leu489Phe) rs143948240
NM_002485.5(NBN):c.1466T>C (p.Leu489Pro) rs2129703076
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser) rs1586054565
NM_002485.5(NBN):c.1470A>C (p.Leu490Phe) rs1447979380
NM_002485.5(NBN):c.1472A>G (p.Glu491Gly) rs2129702971
NM_002485.5(NBN):c.1473A>G (p.Glu491=) rs2129702949
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys) rs587782130
NM_002485.5(NBN):c.1475A>G (p.Gln492Arg) rs768883132
NM_002485.5(NBN):c.1476A>C (p.Gln492His) rs1382919150
NM_002485.5(NBN):c.1476A>G (p.Gln492=) rs1382919150
NM_002485.5(NBN):c.1477A>G (p.Thr493Ala) rs1810557417
NM_002485.5(NBN):c.1483C>T (p.Pro495Ser) rs747027298
NM_002485.5(NBN):c.1484C>G (p.Pro495Arg) rs863224714
NM_002485.5(NBN):c.1487C>T (p.Ala496Val) rs1586054406
NM_002485.5(NBN):c.1490C>T (p.Thr497Ile) rs1563527011
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr) rs915825113
NM_002485.5(NBN):c.1492C>T (p.Pro498Ser)
NM_002485.5(NBN):c.1493C>A (p.Pro498His)
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu) rs772411713
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.5(NBN):c.149C>T (p.Ala50Val) rs1554569035
NM_002485.5(NBN):c.14T>A (p.Leu5Gln) rs1586116142
NM_002485.5(NBN):c.14T>C (p.Leu5Pro) rs1586116142
NM_002485.5(NBN):c.1503G>T (p.Trp501Cys)
NM_002485.5(NBN):c.1509T>A (p.Asn503Lys) rs876660751
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg) rs757754183
NM_002485.5(NBN):c.1513G>A (p.Glu505Lys) rs1810553632
NM_002485.5(NBN):c.1516C>A (p.Gln506Lys)
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu) rs876658535
NM_002485.5(NBN):c.1519C>T (p.His507Tyr) rs1554558456
NM_002485.5(NBN):c.151A>G (p.Asn51Asp)
NM_002485.5(NBN):c.1520A>C (p.His507Pro) rs587782520
NM_002485.5(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.5(NBN):c.1521T>A (p.His507Gln) rs1586054212
NM_002485.5(NBN):c.1525T>A (p.Ser509Thr)
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro) rs1810552588
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.5(NBN):c.1531A>G (p.Asn511Asp)
NM_002485.5(NBN):c.1532A>C (p.Asn511Thr) rs2129701658
NM_002485.5(NBN):c.1533T>G (p.Asn511Lys) rs587780776
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys) rs1554558445
NM_002485.5(NBN):c.1534G>C (p.Glu512Gln) rs1554558445
NM_002485.5(NBN):c.1535A>G (p.Glu512Gly) rs876659367
NM_002485.5(NBN):c.1537C>T (p.Pro513Ser) rs1810551219
NM_002485.5(NBN):c.1538C>T (p.Pro513Leu) rs1554558440
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala) rs376653589
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys) rs876658744
NM_002485.5(NBN):c.1556A>G (p.Asp519Gly)
NM_002485.5(NBN):c.1556A>T (p.Asp519Val)
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp) rs944499155
NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr) rs1810549229
NM_002485.5(NBN):c.1564T>G (p.Leu522Val) rs2129700928
NM_002485.5(NBN):c.1566A>T (p.Leu522Phe)
NM_002485.5(NBN):c.1566_1568del (p.Leu522del)
NM_002485.5(NBN):c.1571C>T (p.Thr524Ile) rs2129700864
NM_002485.5(NBN):c.1573G>A (p.Asp525Asn)
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu) rs587782150
NM_002485.5(NBN):c.1577C>G (p.Thr526Arg)
NM_002485.5(NBN):c.1580A>G (p.Asp527Gly) rs1554558407
NM_002485.5(NBN):c.1581T>G (p.Asp527Glu) rs1586053893
NM_002485.5(NBN):c.1582T>A (p.Leu528Ile) rs2129700664
NM_002485.5(NBN):c.1583T>C (p.Leu528Ser)
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr)
NM_002485.5(NBN):c.1589C>G (p.Ser530Cys) rs920311188
NM_002485.5(NBN):c.1589C>T (p.Ser530Phe)
NM_002485.5(NBN):c.158C>G (p.Ser53Cys) rs876660243
NM_002485.5(NBN):c.1592T>C (p.Ile531Thr) rs2129700486
NM_002485.5(NBN):c.1594G>A (p.Val532Met) rs545435120
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.1597A>G (p.Lys533Glu)
NM_002485.5(NBN):c.1598A>G (p.Lys533Arg)
NM_002485.5(NBN):c.1599A>G (p.Lys533=) rs2129700342
NM_002485.5(NBN):c.1601A>G (p.Asn534Ser)
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala) rs1563526265
NM_002485.5(NBN):c.1609A>G (p.Ser537Gly) rs1810545673
NM_002485.5(NBN):c.1612A>G (p.Lys538Glu) rs2129700125
NM_002485.5(NBN):c.1613A>T (p.Lys538Ile) rs1810545480
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys) rs768431216
NM_002485.5(NBN):c.1619A>T (p.His540Leu)
NM_002485.5(NBN):c.161T>C (p.Val54Ala) rs769700749
NM_002485.5(NBN):c.1621G>A (p.Ala541Thr)
NM_002485.5(NBN):c.1621G>C (p.Ala541Pro)
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.1622C>T (p.Ala541Val) rs876658501
NM_002485.5(NBN):c.1624G>T (p.Ala542Ser) rs764263689
NM_002485.5(NBN):c.1624_1625delinsTT (p.Ala542Leu) rs2129699919
NM_002485.5(NBN):c.1625C>T (p.Ala542Val) rs760911186
NM_002485.5(NBN):c.1628A>C (p.Glu543Ala) rs587781624
NM_002485.5(NBN):c.1631A>G (p.Lys544Arg) rs2129699796
NM_002485.5(NBN):c.1636A>G (p.Arg546Gly)
NM_002485.5(NBN):c.1637G>A (p.Arg546Lys)
NM_002485.5(NBN):c.1637G>C (p.Arg546Thr) rs1360502904
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp) rs772234785
NM_002485.5(NBN):c.1643A>G (p.Asn548Ser)
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu) rs1810540992
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)
NM_002485.5(NBN):c.1649A>G (p.Lys550Arg) rs2129699455
NM_002485.5(NBN):c.164C>G (p.Thr55Ser) rs1812127566
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1651A>G (p.Arg551Gly) rs1810539994
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1657A>T (p.Met553Leu) rs746347634
NM_002485.5(NBN):c.1660G>C (p.Asp554His) rs1554558349
NM_002485.5(NBN):c.1660G>T (p.Asp554Tyr) rs1554558349
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.1666G>T (p.Val556Leu) rs771567358
NM_002485.5(NBN):c.1670C>A (p.Ala557Asp)
NM_002485.5(NBN):c.1670C>G (p.Ala557Gly) rs1286743873
NM_002485.5(NBN):c.1670C>T (p.Ala557Val) rs1286743873
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu) rs876659451
NM_002485.5(NBN):c.1672A>G (p.Ile558Val) rs876659451
NM_002485.5(NBN):c.1673T>A (p.Ile558Lys) rs1810537849
NM_002485.5(NBN):c.1675G>A (p.Glu559Lys) rs2129698794
NM_002485.5(NBN):c.1679A>G (p.Asp560Gly) rs2129698759
NM_002485.5(NBN):c.1679A>T (p.Asp560Val)
NM_002485.5(NBN):c.167A>G (p.Asn56Ser) rs1554569009
NM_002485.5(NBN):c.1680T>A (p.Asp560Glu) rs1810537339
NM_002485.5(NBN):c.1682A>C (p.Glu561Ala) rs1586053460
NM_002485.5(NBN):c.1685T>G (p.Val562Gly) rs1060503455
NM_002485.5(NBN):c.1687T>A (p.Leu563Met) rs1466493008
NM_002485.5(NBN):c.1688T>C (p.Leu563Ser) rs935736921
NM_002485.5(NBN):c.168C>A (p.Asn56Lys) rs1586111516
NM_002485.5(NBN):c.1691A>G (p.Glu564Gly) rs1554558323
NM_002485.5(NBN):c.1693C>A (p.Gln565Lys) rs1586053399
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu) rs1554558312
NM_002485.5(NBN):c.16C>A (p.Pro6Thr) rs730881859
NM_002485.5(NBN):c.16C>G (p.Pro6Ala) rs730881859
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys) rs980167139
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu) rs730881853
NM_002485.5(NBN):c.1702A>G (p.Lys568Glu)
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.5(NBN):c.171+4T>A rs587782290
NM_002485.5(NBN):c.1714C>T (p.Pro572Ser) rs749918573
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.5(NBN):c.1717G>C (p.Glu573Gln) rs2129697994
NM_002485.5(NBN):c.1719G>T (p.Glu573Asp) rs1586053258
NM_002485.5(NBN):c.171G>T (p.Leu57=) rs1554569001
NM_002485.5(NBN):c.172-3C>G rs587781620
NM_002485.5(NBN):c.172-5_172-4del
NM_002485.5(NBN):c.172-8C>G rs1335357045
NM_002485.5(NBN):c.1720T>G (p.Leu574Val) rs142334798
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr) rs1255733657
NM_002485.5(NBN):c.1727T>G (p.Ile576Ser) rs1255733657
NM_002485.5(NBN):c.172A>T (p.Ser58Cys) rs1554568431
NM_002485.5(NBN):c.1731T>G (p.Asp577Glu)
NM_002485.5(NBN):c.1732G>T (p.Val578Leu) rs1554558284
NM_002485.5(NBN):c.1733T>C (p.Val578Ala)
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln) rs993110145
NM_002485.5(NBN):c.1738G>A (p.Val580Ile) rs878854506
NM_002485.5(NBN):c.1738G>T (p.Val580Phe) rs878854506
NM_002485.5(NBN):c.1739T>G (p.Val580Gly) rs2129697638
NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del) rs1554558265
NM_002485.5(NBN):c.1752G>C (p.Glu584Asp) rs1554558267
NM_002485.5(NBN):c.1756G>C (p.Asp586His) rs786202588
NM_002485.5(NBN):c.1757A>G (p.Asp586Gly) rs1810527909
NM_002485.5(NBN):c.1757A>T (p.Asp586Val) rs1810527909
NM_002485.5(NBN):c.1759G>A (p.Val587Ile) rs1586053076
NM_002485.5(NBN):c.175C>G (p.Gln59Glu) rs1554568427
NM_002485.5(NBN):c.1769G>A (p.Arg590Lys)
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr) rs1563524967
NM_002485.5(NBN):c.1774A>G (p.Arg592Gly) rs1554558245
NM_002485.5(NBN):c.1775G>T (p.Arg592Met) rs1586052969
NM_002485.5(NBN):c.1776G>T (p.Arg592Ser) rs1554558244
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr) rs146989944
NM_002485.5(NBN):c.1777C>T (p.Pro593Ser)
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly) rs1554558241
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.1785G>A (p.Met595Ile) rs1586052885
NM_002485.5(NBN):c.1786G>A (p.Asp596Asn) rs1467034784
NM_002485.5(NBN):c.1786G>C (p.Asp596His) rs1467034784
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) rs1005715125
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) rs1005715125
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu) rs864622167
NM_002485.5(NBN):c.178_180del (p.Thr60del)
NM_002485.5(NBN):c.1791A>G (p.Ile597Met) rs1810523727
NM_002485.5(NBN):c.1795A>G (p.Thr599Ala) rs878854507
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.5(NBN):c.1796C>T (p.Thr599Ile) rs775848374
NM_002485.5(NBN):c.1799A>G (p.Asn600Ser)
NM_002485.5(NBN):c.17C>T (p.Pro6Leu) rs876658432
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly) rs553571469
NM_002485.5(NBN):c.1803C>G (p.Asp601Glu) rs2129696348
NM_002485.5(NBN):c.1805C>G (p.Thr602Ser) rs1563524801
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile) rs1563524801
NM_002485.5(NBN):c.1808T>C (p.Phe603Ser) rs1810522468
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys) rs1810522468
NM_002485.5(NBN):c.1812T>A (p.Ser604Arg)
NM_002485.5(NBN):c.181G>A (p.Asp61Asn)
NM_002485.5(NBN):c.181G>C (p.Asp61His)
NM_002485.5(NBN):c.1820C>T (p.Ala607Val) rs1810521873
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr) rs372012641
NM_002485.5(NBN):c.1825C>T (p.Pro609Ser) rs372012641
NM_002485.5(NBN):c.1828G>A (p.Glu610Lys)
NM_002485.5(NBN):c.182A>G (p.Asp61Gly) rs1460282206
NM_002485.5(NBN):c.1831A>G (p.Ser611Gly)
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1844C>G (p.Ser615Cys)
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe) rs1810520002
NM_002485.5(NBN):c.1845+2dup rs1586052628
NM_002485.5(NBN):c.1845+5G>A
NM_002485.5(NBN):c.1845+5_1845+8del rs1563524615
NM_002485.5(NBN):c.1845T>C (p.Ser615=) rs1810519877
NM_002485.5(NBN):c.1846-13T>A rs1810272926
NM_002485.5(NBN):c.1846-16T>A
NM_002485.5(NBN):c.1846-17_1846-11del
NM_002485.5(NBN):c.1846-3T>C rs1810272337
NM_002485.5(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.5(NBN):c.1849G>C (p.Glu617Gln) rs766602873
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp) rs1660299603
NM_002485.5(NBN):c.185A>T (p.Glu62Val) rs1812067152
NM_002485.5(NBN):c.1861G>A (p.Gly621Arg) rs1810270617
NM_002485.5(NBN):c.1868A>G (p.Lys623Arg) rs1810269932
NM_002485.5(NBN):c.186A>C (p.Glu62Asp) rs1586109110
NM_002485.5(NBN):c.1870C>A (p.Arg624Ser)
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly) rs962092255
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.5(NBN):c.1871G>T (p.Arg624Leu) rs587782297
NM_002485.5(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln) rs1554556932
NM_002485.5(NBN):c.1874A>C (p.Glu625Ala)
NM_002485.5(NBN):c.1874A>G (p.Glu625Gly) rs1554556929
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.5(NBN):c.1880A>T (p.Lys627Met) rs762174459
NM_002485.5(NBN):c.1881G>T (p.Lys627Asn) rs2129660206
NM_002485.5(NBN):c.1885G>A (p.Asp629Asn) rs745559078
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr) rs745559078
NM_002485.5(NBN):c.1886A>C (p.Asp629Ala) rs1586043675
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly) rs1586043675
NM_002485.5(NBN):c.1889C>T (p.Ser630Leu) rs1810267412
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.1891C>G (p.Leu631Val) rs1064793477
NM_002485.5(NBN):c.1892T>C (p.Leu631Pro)
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.1896G>T (p.Trp632Cys) rs1221760506
NM_002485.5(NBN):c.1897T>G (p.Ser633Ala)
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu) rs1554556897
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr) rs1554556892
NM_002485.5(NBN):c.1903A>G (p.Lys635Glu) rs587782545
NM_002485.5(NBN):c.1908A>C (p.Glu636Asp) rs1563516272
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.190C>G (p.Pro64Ala) rs267602038
NM_002485.5(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.5(NBN):c.1911A>G (p.Ile637Met) rs372877871
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1914+3G>A rs1554556878
NM_002485.5(NBN):c.1914+5G>A rs1586043509
NM_002485.5(NBN):c.1915-10C>G rs1586040877
NM_002485.5(NBN):c.1918A>G (p.Asn640Asp) rs1810188771
NM_002485.5(NBN):c.1919A>T (p.Asn640Ile) rs748073091
NM_002485.5(NBN):c.191C>G (p.Pro64Arg) rs1563581492
NM_002485.5(NBN):c.191C>T (p.Pro64Leu) rs1563581492
NM_002485.5(NBN):c.1920T>A (p.Asn640Lys) rs1554556602
NM_002485.5(NBN):c.1921G>A (p.Asp641Asn) rs1586040820
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly) rs921235584
NM_002485.5(NBN):c.1923C>A (p.Asp641Glu) rs1563513669
NM_002485.5(NBN):c.1927C>G (p.Leu643Val) rs1586040775
NM_002485.5(NBN):c.1927C>T (p.Leu643Phe)
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys) rs764050423
NM_002485.5(NBN):c.1931A>G (p.Gln644Arg) rs1554556598
NM_002485.5(NBN):c.1932G>T (p.Gln644His) rs754783870
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn) rs1064796613
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr) rs1064796613
NM_002485.5(NBN):c.1935T>A (p.Asp645Glu) rs1172294340
NM_002485.5(NBN):c.1936G>A (p.Asp646Asn) rs2129649024
NM_002485.5(NBN):c.193G>T (p.Val65Leu) rs778998026
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.1946T>C (p.Met649Thr) rs1554556582
NM_002485.5(NBN):c.1947G>A (p.Met649Ile) rs1554556579
NM_002485.5(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.5(NBN):c.1951C>T (p.Pro651Ser) rs1810185871
NM_002485.5(NBN):c.1952C>T (p.Pro651Leu) rs1554556572
NM_002485.5(NBN):c.1954A>G (p.Lys652Glu) rs780360772
NM_002485.5(NBN):c.1974A>T (p.Glu658Asp)
NM_002485.5(NBN):c.1975T>G (p.Phe659Val) rs1060503469
NM_002485.5(NBN):c.1976T>G (p.Phe659Cys) rs1410677050
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.5(NBN):c.1979G>T (p.Arg660Ile) rs201781110
NM_002485.5(NBN):c.197T>G (p.Leu66Trp) rs1812065476
NM_002485.5(NBN):c.1982C>T (p.Ser661Leu) rs1810183784
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg) rs1810183362
NM_002485.5(NBN):c.1987G>C (p.Val663Leu) rs1554556547
NM_002485.5(NBN):c.1987G>T (p.Val663Leu) rs1554556547
NM_002485.5(NBN):c.1990A>T (p.Ile664Phe) rs2129647841
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.5(NBN):c.1997A>C (p.Asn666Thr) rs2129647636
NM_002485.5(NBN):c.1998C>G (p.Asn666Lys) rs1057523508
NM_002485.5(NBN):c.199A>G (p.Thr67Ala) rs876660922
NM_002485.5(NBN):c.19G>C (p.Ala7Pro) rs587780779
NM_002485.5(NBN):c.2003C>G (p.Thr668Ser) rs876658336
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile) rs876658336
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly) rs876658488
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002485.5(NBN):c.200C>T (p.Thr67Ile) rs1015793589
NM_002485.5(NBN):c.2012A>C (p.Asn671Thr) rs1563513183
NM_002485.5(NBN):c.2013T>G (p.Asn671Lys) rs1586040407
NM_002485.5(NBN):c.2018C>A (p.Ser673Tyr)
NM_002485.5(NBN):c.2018C>G (p.Ser673Cys) rs1810179050
NM_002485.5(NBN):c.2021G>T (p.Gly674Val) rs1563513080
NM_002485.5(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser) rs1404296922
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del) rs1554556498
NM_002485.5(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.5(NBN):c.2030A>G (p.Asp677Gly) rs2130763851
NM_002485.5(NBN):c.2030A>T (p.Asp677Val) rs2130763851
NM_002485.5(NBN):c.2031T>A (p.Asp677Glu)
NM_002485.5(NBN):c.2032G>T (p.Asp678Tyr)
NM_002485.5(NBN):c.2033A>G (p.Asp678Gly) rs1810178166
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) rs1425101720
NM_002485.5(NBN):c.2041C>G (p.Gln681Glu) rs1554556485
NM_002485.5(NBN):c.2045T>G (p.Leu682Arg)
NM_002485.5(NBN):c.2048A>G (p.Lys683Arg) rs2130763713
NM_002485.5(NBN):c.2049_2057del (p.Asn684_Lys686del) rs2130763620
NM_002485.5(NBN):c.204A>T (p.Leu68Phe) rs786201800
NM_002485.5(NBN):c.2050A>C (p.Asn684His) rs1810176238
NM_002485.5(NBN):c.2051A>G (p.Asn684Ser) rs1554556477
NM_002485.5(NBN):c.2053T>C (p.Phe685Leu) rs768715280
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) rs1181142133
NM_002485.5(NBN):c.2055C>G (p.Phe685Leu) rs765458801
NM_002485.5(NBN):c.2056A>G (p.Lys686Glu) rs786203920
NM_002485.5(NBN):c.2058G>T (p.Lys686Asn) rs2130763599
NM_002485.5(NBN):c.2063T>C (p.Phe688Ser) rs1563512800
NM_002485.5(NBN):c.2063T>G (p.Phe688Cys) rs1563512800
NM_002485.5(NBN):c.2064C>A (p.Phe688Leu)
NM_002485.5(NBN):c.2064C>G (p.Phe688Leu)
NM_002485.5(NBN):c.2065A>G (p.Lys689Glu) rs1554556461
NM_002485.5(NBN):c.2066A>G (p.Lys689Arg) rs1554556458
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+3A>G rs1810173321
NM_002485.5(NBN):c.2070+5G>A rs1323512485
NM_002485.5(NBN):c.2070+5G>T rs1323512485
NM_002485.5(NBN):c.2070+6T>C rs1810172843
NM_002485.5(NBN):c.2070G>A (p.Lys690=)
NM_002485.5(NBN):c.2070G>T (p.Lys690Asn) rs1810173689
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002485.5(NBN):c.2071-6C>A rs768670249
NM_002485.5(NBN):c.2071G>T (p.Val691Phe) rs772059959
NM_002485.5(NBN):c.2072T>G (p.Val691Gly) rs1563508748
NM_002485.5(NBN):c.2074A>G (p.Thr692Ala)
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.5(NBN):c.2078A>G (p.Tyr693Cys) rs1563508706
NM_002485.5(NBN):c.2080C>T (p.Pro694Ser) rs1586035536
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg) rs746090959
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg) rs1554555835
NM_002485.5(NBN):c.2084G>A (p.Gly695Glu) rs1554555834
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser) rs749276965
NM_002485.5(NBN):c.2087C>T (p.Ala696Val) rs1462278909
NM_002485.5(NBN):c.208G>A (p.Asp70Asn) rs560337591
NM_002485.5(NBN):c.2090G>A (p.Gly697Glu)
NM_002485.5(NBN):c.2092A>G (p.Lys698Glu) rs1586035456
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro) rs1810039016
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.5(NBN):c.2099C>T (p.Pro700Leu) rs1367898317
NM_002485.5(NBN):c.209A>G (p.Asp70Gly) rs1586108952
NM_002485.5(NBN):c.20C>T (p.Ala7Val) rs781057669
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.2102A>C (p.His701Pro)
NM_002485.5(NBN):c.2107A>G (p.Ile703Val) rs942302974
NM_002485.5(NBN):c.2108T>C (p.Ile703Thr) rs1554555819
NM_002485.5(NBN):c.2108T>G (p.Ile703Ser)
NM_002485.5(NBN):c.210T>G (p.Asp70Glu) rs1554568357
NM_002485.5(NBN):c.2110G>A (p.Gly704Arg) rs1810037245
NM_002485.5(NBN):c.2114G>A (p.Gly705Glu) rs1810037139
NM_002485.5(NBN):c.2119G>C (p.Asp707His)
NM_002485.5(NBN):c.2120_2128del (p.Asp707_Ile709del) rs1563508381
NM_002485.5(NBN):c.2121T>A (p.Asp707Glu)
NM_002485.5(NBN):c.2125_2127delinsCTG (p.Ile709Leu) rs1586035313
NM_002485.5(NBN):c.2126T>C (p.Ile709Thr)
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
NM_002485.5(NBN):c.212A>C (p.Asn71Thr)
NM_002485.5(NBN):c.212A>G (p.Asn71Ser)
NM_002485.5(NBN):c.2131C>T (p.His711Tyr) rs780333168
NM_002485.5(NBN):c.2131CAT[1] (p.His712del) rs786204096
NM_002485.5(NBN):c.2135A>G (p.His712Arg) rs1361799559
NM_002485.5(NBN):c.2138C>A (p.Ala713Asp) rs986903713
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2141G>C (p.Arg714Pro) rs753270166
NM_002485.5(NBN):c.2143A>C (p.Lys715Gln) rs2130755556
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro) rs1554568352
NM_002485.5(NBN):c.214_216del (p.Ser72del)
NM_002485.5(NBN):c.2150C>G (p.Thr717Arg)
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.2155C>G (p.Leu719Val) rs1563508063
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup) rs864622241
NM_002485.5(NBN):c.2158G>A (p.Glu720Lys) rs876660294
NM_002485.5(NBN):c.2158G>C (p.Glu720Gln) rs876660294
NM_002485.5(NBN):c.215C>T (p.Ser72Phe) rs1060503484
NM_002485.5(NBN):c.2160A>C (p.Glu720Asp) rs1810032277
NM_002485.5(NBN):c.2161G>C (p.Glu721Gln) rs1064795816
NM_002485.5(NBN):c.2162A>T (p.Glu721Val) rs1554555751
NM_002485.5(NBN):c.2164T>A (p.Trp722Arg) rs1554555748
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.5(NBN):c.2166G>T (p.Trp722Cys) rs1810031465
NM_002485.5(NBN):c.2167C>A (p.Leu723Ile) rs759888769
NM_002485.5(NBN):c.2167C>G (p.Leu723Val) rs759888769
NM_002485.5(NBN):c.2168T>C (p.Leu723Pro)
NM_002485.5(NBN):c.2170A>G (p.Arg724Gly) rs1586035037
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro) rs878854510
NM_002485.5(NBN):c.2177A>C (p.Glu726Ala) rs1554555736
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly) rs1554555736
NM_002485.5(NBN):c.2179A>G (p.Met727Val) rs1554555732
NM_002485.5(NBN):c.217A>G (p.Lys73Glu)
NM_002485.5(NBN):c.2181G>A (p.Met727Ile) rs1586034984
NM_002485.5(NBN):c.2183A>T (p.Glu728Val) rs1060503487
NM_002485.5(NBN):c.2184+5G>A rs1563507830
NM_002485.5(NBN):c.2184+6T>A rs1810029317
NM_002485.5(NBN):c.2184+9G>T
NM_002485.5(NBN):c.2184G>A (p.Glu728=) rs1586034964
NM_002485.5(NBN):c.2184G>C (p.Glu728Asp) rs1586034964
NM_002485.5(NBN):c.2185-20_2185-4del rs2130739432
NM_002485.5(NBN):c.2185-3C>T rs1809726732
NM_002485.5(NBN):c.2185-7T>G rs1563497932
NM_002485.5(NBN):c.2186T>C (p.Val729Ala) rs1809726528
NM_002485.5(NBN):c.2188C>A (p.Gln730Lys) rs1554554267
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr) rs369649307
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.2198dup (p.His733fs)
NM_002485.5(NBN):c.21C>A (p.Ala7=) rs370050587
NM_002485.5(NBN):c.2201C>G (p.Ala734Gly)
NM_002485.5(NBN):c.2204_2208del (p.Lys735fs) rs2130739278
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del) rs1554554251
NM_002485.5(NBN):c.2206G>C (p.Glu736Gln) rs756831345
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.5(NBN):c.2206del (p.Glu736fs) rs1809724889
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.5(NBN):c.2210_2211del (p.Glu737fs) rs774508816
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp) rs753596803
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe) rs876659097
NM_002485.5(NBN):c.2215_2216del (p.Leu739fs) rs1809723362
NM_002485.5(NBN):c.2215_2217del (p.Leu739del)
NM_002485.5(NBN):c.2216T>C (p.Leu739Pro) rs2130739195
NM_002485.5(NBN):c.2219C>A (p.Ala740Asp) rs1554554240
NM_002485.5(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys) rs1060503471
NM_002485.5(NBN):c.2221G>A (p.Asp741Asn) rs1586024237
NM_002485.5(NBN):c.2221GAT[1] (p.Asp742del) rs1421967400
NM_002485.5(NBN):c.2222A>T (p.Asp741Val)
NM_002485.5(NBN):c.2224G>A (p.Asp742Asn)
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr) rs746479577
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.2227C>A (p.Leu743Ile) rs894189734
NM_002485.5(NBN):c.2227C>T (p.Leu743Phe) rs894189734
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.5(NBN):c.2228T>G (p.Leu743Arg)
NM_002485.5(NBN):c.2231T>G (p.Phe744Cys)
NM_002485.5(NBN):c.2232del (p.Phe744fs) rs1554554233
NM_002485.5(NBN):c.2234+5A>C rs1586024121
NM_002485.5(NBN):c.2234+5A>G rs1586024121
NM_002485.5(NBN):c.2234+6G>C
NM_002485.5(NBN):c.2235-3C>T rs1554553897
NM_002485.5(NBN):c.2237A>G (p.Tyr746Cys) rs1554553893
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
NM_002485.5(NBN):c.2239A>G (p.Asn747Asp)
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser) rs766237464
NM_002485.5(NBN):c.2240A>T (p.Asn747Ile) rs766237464
NM_002485.5(NBN):c.2242C>T (p.Pro748Ser) rs1809633675
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe) rs864622446
NM_002485.5(NBN):c.2250A>T (p.Leu750Phe) rs1554553868
NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)
NM_002485.5(NBN):c.2256_2258del (p.Arg754del) rs1809632212
NM_002485.5(NBN):c.2256del (p.Arg753fs) rs1809632346
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys) rs773020664
NM_002485.5(NBN):c.2258G>C (p.Arg753Thr) rs773020664
NM_002485.5(NBN):c.2260A>G (p.Arg754Gly)
NM_002485.5(NBN):c.2263T>C (p.Ter755Gln) rs1563495055
NM_002485.5(NBN):c.227C>T (p.Thr76Ile) rs587781412
NM_002485.5(NBN):c.22G>A (p.Ala8Thr)
NM_002485.5(NBN):c.22G>C (p.Ala8Pro)
NM_002485.5(NBN):c.231T>A (p.Phe77Leu) rs1554568336
NM_002485.5(NBN):c.232G>A (p.Val78Ile)
NM_002485.5(NBN):c.235A>C (p.Asn79His) rs786202749
NM_002485.5(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.5(NBN):c.23C>G (p.Ala8Gly) rs1060503459
NM_002485.5(NBN):c.23C>T (p.Ala8Val) rs1060503459
NM_002485.5(NBN):c.241G>C (p.Glu81Gln) rs1064795037
NM_002485.5(NBN):c.242A>G (p.Glu81Gly) rs786202085
NM_002485.5(NBN):c.242A>T (p.Glu81Val) rs786202085
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.5(NBN):c.245A>G (p.Lys82Arg)
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.248T>A (p.Met83Lys) rs940160589
NM_002485.5(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.5(NBN):c.250C>A (p.Gln84Lys) rs1586108714
NM_002485.5(NBN):c.256G>C (p.Gly86Arg) rs2129915101
NM_002485.5(NBN):c.25G>A (p.Gly9Ser) rs2129938127
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.263C>T (p.Ser88Phe) rs1812059810
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.269C>T (p.Thr90Ile) rs1812059152
NM_002485.5(NBN):c.26G>A (p.Gly9Asp)
NM_002485.5(NBN):c.26G>T (p.Gly9Val) rs1554569664
NM_002485.5(NBN):c.275A>G (p.Lys92Arg) rs1554568311
NM_002485.5(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.5(NBN):c.280G>C (p.Gly94Arg) rs1563580785
NM_002485.5(NBN):c.283G>C (p.Asp95His) rs61753720
NM_002485.5(NBN):c.289A>G (p.Ile97Val) rs730881855
NM_002485.5(NBN):c.28C>A (p.Pro10Thr) rs758228844
NM_002485.5(NBN):c.28C>G (p.Pro10Ala) rs758228844
NM_002485.5(NBN):c.28C>T (p.Pro10Ser) rs758228844
NM_002485.5(NBN):c.290T>C (p.Ile97Thr) rs1554568295
NM_002485.5(NBN):c.291T>G (p.Ile97Met) rs1812056882
NM_002485.5(NBN):c.292A>C (p.Thr98Pro) rs1060503453
NM_002485.5(NBN):c.292A>G (p.Thr98Ala)
NM_002485.5(NBN):c.299G>C (p.Gly100Ala) rs2129914264
NM_002485.5(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.302T>G (p.Val101Gly) rs185493105
NM_002485.5(NBN):c.304T>C (p.Phe102Leu) rs1554568285
NM_002485.5(NBN):c.307G>A (p.Gly103Arg) rs2129914127
NM_002485.5(NBN):c.308G>T (p.Gly103Val) rs1554568272
NM_002485.5(NBN):c.310A>G (p.Ser104Gly) rs876658400
NM_002485.5(NBN):c.311G>C (p.Ser104Thr) rs778943002
NM_002485.5(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.5(NBN):c.318C>G (p.Phe106Leu) rs1161413131
NM_002485.5(NBN):c.31G>A (p.Ala11Thr)
NM_002485.5(NBN):c.320+4A>G
NM_002485.5(NBN):c.320+5G>T rs1563580422
NM_002485.5(NBN):c.320G>A (p.Arg107Lys) rs1345924774
NM_002485.5(NBN):c.320G>C (p.Arg107Thr)
NM_002485.5(NBN):c.321-11_321-6del rs1812035299
NM_002485.5(NBN):c.321-3C>G
NM_002485.5(NBN):c.321-6T>G
NM_002485.5(NBN):c.321A>G (p.Arg107=) rs1812034788
NM_002485.5(NBN):c.322A>C (p.Ile108Leu) rs1286492027
NM_002485.5(NBN):c.324A>G (p.Ile108Met)
NM_002485.5(NBN):c.325G>A (p.Glu109Lys)
NM_002485.5(NBN):c.327G>T (p.Glu109Asp)
NM_002485.5(NBN):c.331G>C (p.Glu111Gln)
NM_002485.5(NBN):c.332A>C (p.Glu111Ala) rs876659320
NM_002485.5(NBN):c.335C>G (p.Pro112Arg) rs759723870
NM_002485.5(NBN):c.339G>T (p.Leu113Phe) rs774622977
NM_002485.5(NBN):c.340G>A (p.Val114Ile) rs771034958
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.341T>G (p.Val114Gly) rs2129910604
NM_002485.5(NBN):c.343G>A (p.Ala115Thr) rs876658434
NM_002485.5(NBN):c.343G>T (p.Ala115Ser) rs876658434
NM_002485.5(NBN):c.346T>C (p.Cys116Arg) rs1586107344
NM_002485.5(NBN):c.349T>A (p.Ser117Thr)
NM_002485.5(NBN):c.349T>C (p.Ser117Pro) rs1563579445
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.350C>A (p.Ser117Tyr) rs1060503468
NM_002485.5(NBN):c.350C>G (p.Ser117Cys) rs1060503468
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.351_359del (p.Ser118_Leu120del) rs2129910321
NM_002485.5(NBN):c.353C>T (p.Ser118Phe)
NM_002485.5(NBN):c.355T>G (p.Cys119Gly)
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr) rs749272832
NM_002485.5(NBN):c.356G>C (p.Cys119Ser) rs749272832
NM_002485.5(NBN):c.356G>T (p.Cys119Phe) rs749272832
NM_002485.5(NBN):c.359T>C (p.Leu120Ser) rs1563579387
NM_002485.5(NBN):c.35G>A (p.Gly12Glu) rs730881860
NM_002485.5(NBN):c.35G>C (p.Gly12Ala) rs730881860
NM_002485.5(NBN):c.362A>C (p.Asp121Ala)
NM_002485.5(NBN):c.362A>T (p.Asp121Val)
NM_002485.5(NBN):c.363T>A (p.Asp121Glu) rs987369991
NM_002485.5(NBN):c.367T>G (p.Ser123Ala) rs786203615
NM_002485.5(NBN):c.36A>C (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.36A>G (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.36A>T (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.37+5G>T rs116735828
NM_002485.5(NBN):c.37+6G>C rs540868733
NM_002485.5(NBN):c.37+6G>T rs540868733
NM_002485.5(NBN):c.37+8C>T rs1554569655
NM_002485.5(NBN):c.371G>A (p.Gly124Glu) rs781671474
NM_002485.5(NBN):c.373A>C (p.Lys125Gln) rs1563579253
NM_002485.5(NBN):c.376A>T (p.Thr126Ser) rs1484120047
NM_002485.5(NBN):c.379_380delinsTA (p.Ala127Tyr)
NM_002485.5(NBN):c.38-10T>G
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.38-3C>T rs876661099
NM_002485.5(NBN):c.380C>G (p.Ala127Gly) rs1554567966
NM_002485.5(NBN):c.385A>C (p.Asn129His) rs1060503477
NM_002485.5(NBN):c.385A>G (p.Asn129Asp) rs1060503477
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.38_40del rs1350231265
NM_002485.5(NBN):c.390A>C (p.Gln130His)
NM_002485.5(NBN):c.391G>C (p.Ala131Pro)
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.5(NBN):c.392C>T (p.Ala131Val) rs1469136096
NM_002485.5(NBN):c.395T>C (p.Ile132Thr) rs1563579078
NM_002485.5(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.5(NBN):c.399G>T (p.Leu133Phe) rs2129909551
NM_002485.5(NBN):c.3G>A (p.Met1Ile) rs1554569682
NM_002485.5(NBN):c.401A>C (p.Gln134Pro)
NM_002485.5(NBN):c.401A>G (p.Gln134Arg) rs1586106962
NM_002485.5(NBN):c.403C>G (p.Leu135Val) rs1409617560
NM_002485.5(NBN):c.403C>T (p.Leu135Phe)
NM_002485.5(NBN):c.406G>A (p.Gly136Arg) rs1554567936
NM_002485.5(NBN):c.407G>A (p.Gly136Glu) rs1812025943
NM_002485.5(NBN):c.409G>A (p.Gly137Arg)
NM_002485.5(NBN):c.40G>A (p.Glu14Lys) rs745439506
NM_002485.5(NBN):c.40G>C (p.Glu14Gln)
NM_002485.5(NBN):c.416C>T (p.Thr139Ile) rs2129909239
NM_002485.5(NBN):c.419T>C (p.Val140Ala) rs752672571
NM_002485.5(NBN):c.421A>G (p.Asn141Asp) rs2129909122
NM_002485.5(NBN):c.424A>G (p.Asn142Asp) rs1586106848
NM_002485.5(NBN):c.430A>G (p.Thr144Ala) rs1812023859
NM_002485.5(NBN):c.431C>G (p.Thr144Arg) rs1554567906
NM_002485.5(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.5(NBN):c.436G>A (p.Glu146Lys) rs1812023357
NM_002485.5(NBN):c.43C>T (p.Pro15Ser) rs1563584802
NM_002485.5(NBN):c.440G>A (p.Cys147Tyr)
NM_002485.5(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.5(NBN):c.442A>T (p.Thr148Ser) rs1060503479
NM_002485.5(NBN):c.447C>A (p.His149Gln) rs868089138
NM_002485.5(NBN):c.449T>C (p.Leu150Pro)
NM_002485.5(NBN):c.44C>T (p.Pro15Leu) rs1586112154
NM_002485.5(NBN):c.451G>T (p.Val151Phe) rs587781549
NM_002485.5(NBN):c.454A>G (p.Met152Val) rs1554567872
NM_002485.5(NBN):c.458T>C (p.Val153Ala) rs1554567865
NM_002485.5(NBN):c.469G>A (p.Val157Ile) rs1060503486
NM_002485.5(NBN):c.472A>G (p.Thr158Ala)
NM_002485.5(NBN):c.472A>T (p.Thr158Ser) rs2129908259
NM_002485.5(NBN):c.475A>G (p.Ile159Val) rs747319065
NM_002485.5(NBN):c.47A>C (p.Tyr16Ser) rs864622726
NM_002485.5(NBN):c.47A>G (p.Tyr16Cys) rs864622726
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.480+3A>T rs756817252
NM_002485.5(NBN):c.480+4G>T rs1812019530
NM_002485.5(NBN):c.480+5G>A rs753578226
NM_002485.5(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.5(NBN):c.481-3T>C rs1060503456
NM_002485.5(NBN):c.484A>C (p.Ile162Leu) rs750594114
NM_002485.5(NBN):c.485T>A (p.Ile162Lys) rs1554566766
NM_002485.5(NBN):c.486A>G (p.Ile162Met) rs1554566760
NM_002485.5(NBN):c.490G>A (p.Ala164Thr) rs786201252
NM_002485.5(NBN):c.494T>G (p.Leu165Arg) rs1060503458
NM_002485.5(NBN):c.499T>A (p.Cys167Ser) rs1586101551
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.508C>G (p.Pro170Ala) rs1554566720
NM_002485.5(NBN):c.511A>C (p.Ile171Leu) rs61754966
NM_002485.5(NBN):c.512T>G (p.Ile171Ser)
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.519G>C (p.Lys173Asn)
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.525A>C (p.Glu175Asp)
NM_002485.5(NBN):c.526T>A (p.Tyr176Asn)
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del) rs1811866878
NM_002485.5(NBN):c.529T>G (p.Phe177Val) rs2129889154
NM_002485.5(NBN):c.530T>C (p.Phe177Ser) rs1064796090
NM_002485.5(NBN):c.532A>C (p.Thr178Pro)
NM_002485.5(NBN):c.532A>G (p.Thr178Ala) rs2129889032
NM_002485.5(NBN):c.535G>A (p.Glu179Lys) rs1293382034
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.537A>C (p.Glu179Asp) rs1554566673
NM_002485.5(NBN):c.537A>T (p.Glu179Asp) rs1554566673
NM_002485.5(NBN):c.539T>G (p.Phe180Cys) rs1060503457
NM_002485.5(NBN):c.541C>A (p.Leu181Met) rs1060504930
NM_002485.5(NBN):c.550G>A (p.Val184Ile) rs1554566641
NM_002485.5(NBN):c.550G>T (p.Val184Phe) rs1554566641
NM_002485.5(NBN):c.551T>C (p.Val184Ala) rs1811865315
NM_002485.5(NBN):c.551T>G (p.Val184Gly)
NM_002485.5(NBN):c.553_554delinsCG (p.Glu185Arg)
NM_002485.5(NBN):c.554A>G (p.Glu185Gly)
NM_002485.5(NBN):c.556T>A (p.Ser186Thr) rs1586101246
NM_002485.5(NBN):c.557C>T (p.Ser186Phe)
NM_002485.5(NBN):c.559A>C (p.Lys187Gln) rs1554566633
NM_002485.5(NBN):c.559A>G (p.Lys187Glu) rs1554566633
NM_002485.5(NBN):c.55T>G (p.Leu19Val) rs1586112097
NM_002485.5(NBN):c.562A>C (p.Lys188Gln) rs1060503476
NM_002485.5(NBN):c.565C>G (p.Gln189Glu) rs1198614767
NM_002485.5(NBN):c.568C>G (p.Pro190Ala) rs1554566620
NM_002485.5(NBN):c.568C>T (p.Pro190Ser) rs1554566620
NM_002485.5(NBN):c.571C>T (p.Pro191Ser) rs2129888034
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.575A>G (p.Gln192Arg)
NM_002485.5(NBN):c.578T>C (p.Ile193Thr) rs1586101162
NM_002485.5(NBN):c.580G>A (p.Glu194Lys) rs1554566610
NM_002485.5(NBN):c.584+5A>G rs1309889719
NM_002485.5(NBN):c.584+6T>C rs1554566602
NM_002485.5(NBN):c.584G>A (p.Ser195Asn) rs1811862674
NM_002485.5(NBN):c.585-3C>A rs779430868
NM_002485.5(NBN):c.585-3C>T rs779430868
NM_002485.5(NBN):c.585-3del rs2129839997
NM_002485.5(NBN):c.587T>A (p.Phe196Tyr) rs1811508521
NM_002485.5(NBN):c.590A>C (p.Tyr197Ser) rs1563562194
NM_002485.5(NBN):c.590A>G (p.Tyr197Cys) rs1563562194
NM_002485.5(NBN):c.592C>T (p.Pro198Ser) rs1554564306
NM_002485.5(NBN):c.593C>G (p.Pro198Arg) rs951997505
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.596C>T (p.Pro199Leu) rs730881844
NM_002485.5(NBN):c.598C>T (p.Leu200Phe) rs2129839627
NM_002485.5(NBN):c.599T>C (p.Leu200Pro)
NM_002485.5(NBN):c.59C>T (p.Thr20Ile) rs1563584711
NM_002485.5(NBN):c.600TGA[1] (p.Asp201del) rs755050499
NM_002485.5(NBN):c.601G>C (p.Asp201His) rs757186245
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.602A>T (p.Asp201Val) rs587780098
NM_002485.5(NBN):c.603T>G (p.Asp201Glu) rs2129839451
NM_002485.5(NBN):c.604G>A (p.Glu202Lys) rs1811506628
NM_002485.5(NBN):c.607C>A (p.Pro203Thr) rs1554564291
NM_002485.5(NBN):c.610T>C (p.Ser204Pro) rs2129839225
NM_002485.5(NBN):c.611C>G (p.Ser204Cys) rs876659478
NM_002485.5(NBN):c.611C>T (p.Ser204Phe) rs876659478
NM_002485.5(NBN):c.614T>C (p.Ile205Thr) rs786203215
NM_002485.5(NBN):c.619A>G (p.Ser207Gly) rs2129839074
NM_002485.5(NBN):c.622A>G (p.Lys208Glu)
NM_002485.5(NBN):c.628G>A (p.Val210Ile) rs61754796
NM_002485.5(NBN):c.628G>C (p.Val210Leu) rs61754796
NM_002485.5(NBN):c.631G>C (p.Asp211His) rs752104183
NM_002485.5(NBN):c.634C>A (p.Leu212Met) rs1563561889
NM_002485.5(NBN):c.635T>C (p.Leu212Pro)
NM_002485.5(NBN):c.635T>G (p.Leu212Arg) rs2129838690
NM_002485.5(NBN):c.640G>C (p.Gly214Arg) rs1554564269
NM_002485.5(NBN):c.64G>T (p.Val22Phe) rs369910645
NM_002485.5(NBN):c.653G>T (p.Arg218Ile) rs786202250
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.658_660del (p.Gln220del) rs1563561699
NM_002485.5(NBN):c.661A>G (p.Ile221Val) rs2129838150
NM_002485.5(NBN):c.662T>C (p.Ile221Thr) rs1187082186
NM_002485.5(NBN):c.664T>A (p.Phe222Ile)
NM_002485.5(NBN):c.667A>C (p.Lys223Gln) rs1811500671
NM_002485.5(NBN):c.667A>G (p.Lys223Glu)
NM_002485.5(NBN):c.668A>G (p.Lys223Arg) rs530438634
NM_002485.5(NBN):c.673A>G (p.Lys225Glu) rs2129837868
NM_002485.5(NBN):c.677C>T (p.Thr226Ile) rs1554564219
NM_002485.5(NBN):c.680T>C (p.Phe227Ser) rs749025721
NM_002485.5(NBN):c.680T>G (p.Phe227Cys) rs749025721
NM_002485.5(NBN):c.682A>G (p.Ile228Val) rs1204337347
NM_002485.5(NBN):c.684A>G (p.Ile228Met) rs1064793416
NM_002485.5(NBN):c.687T>G (p.Phe229Leu) rs876660152
NM_002485.5(NBN):c.692A>C (p.Asn231Thr) rs1309274168
NM_002485.5(NBN):c.694G>A (p.Ala232Thr) rs878854515
NM_002485.5(NBN):c.697A>C (p.Lys233Gln) rs1554564205
NM_002485.5(NBN):c.697A>G (p.Lys233Glu)
NM_002485.5(NBN):c.701A>G (p.Gln234Arg) rs1586088352
NM_002485.5(NBN):c.702+3A>G rs1586088320
NM_002485.5(NBN):c.702+4del rs1554564199
NM_002485.5(NBN):c.703-3T>C rs876659566
NM_002485.5(NBN):c.703-6T>G rs1563560265
NM_002485.5(NBN):c.703C>G (p.His235Asp) rs1554564044
NM_002485.5(NBN):c.704A>G (p.His235Arg) rs769519885
NM_002485.5(NBN):c.705T>A (p.His235Gln) rs1586087184
NM_002485.5(NBN):c.705T>G (p.His235Gln)
NM_002485.5(NBN):c.706A>G (p.Lys236Glu) rs1060503482
NM_002485.5(NBN):c.707A>G (p.Lys236Arg) rs1811466882
NM_002485.5(NBN):c.708G>T (p.Lys236Asn) rs1811466776
NM_002485.5(NBN):c.710A>G (p.Lys237Arg) rs2129831599
NM_002485.5(NBN):c.713T>C (p.Leu238Ser) rs1358736677
NM_002485.5(NBN):c.714G>T (p.Leu238Phe) rs1811466265
NM_002485.5(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.5(NBN):c.715A>G (p.Ser239Gly) rs587781868
NM_002485.5(NBN):c.71A>C (p.Tyr24Ser) rs1812137176
NM_002485.5(NBN):c.71A>G (p.Tyr24Cys)
NM_002485.5(NBN):c.721G>C (p.Ala241Pro) rs587781333
NM_002485.5(NBN):c.721G>T (p.Ala241Ser) rs587781333
NM_002485.5(NBN):c.722C>T (p.Ala241Val)
NM_002485.5(NBN):c.724G>A (p.Val242Ile) rs1434146100
NM_002485.5(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.5(NBN):c.731T>C (p.Phe244Ser) rs1586087079
NM_002485.5(NBN):c.736G>T (p.Gly246Cys)
NM_002485.5(NBN):c.737G>A (p.Gly246Asp) rs1554564023
NM_002485.5(NBN):c.737G>T (p.Gly246Val)
NM_002485.5(NBN):c.73G>T (p.Val25Phe) rs587781748
NM_002485.5(NBN):c.74TTG[1] (p.Val26del) rs2129925669
NM_002485.5(NBN):c.752T>C (p.Leu251Ser) rs2129830556
NM_002485.5(NBN):c.753G>C (p.Leu251Phe) rs2129830525
NM_002485.5(NBN):c.754A>G (p.Ile252Val) rs587782746
NM_002485.5(NBN):c.757A>G (p.Thr253Ala) rs765602971
NM_002485.5(NBN):c.764A>G (p.Glu255Gly)
NM_002485.5(NBN):c.765G>C (p.Glu255Asp) rs2129830286
NM_002485.5(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.5(NBN):c.769G>A (p.Glu257Lys) rs878854516
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del) rs2129830023
NM_002485.5(NBN):c.76G>A (p.Val26Ile) rs752964949
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.770A>T (p.Glu257Val) rs2129830212
NM_002485.5(NBN):c.772G>A (p.Glu258Lys) rs922057169
NM_002485.5(NBN):c.775G>C (p.Glu259Gln) rs201559159
NM_002485.5(NBN):c.778C>T (p.His260Tyr) rs767013459
NM_002485.5(NBN):c.779A>C (p.His260Pro) rs1328090653
NM_002485.5(NBN):c.77T>C (p.Val26Ala) rs781536675
NM_002485.5(NBN):c.781A>G (p.Asn261Asp)
NM_002485.5(NBN):c.782A>T (p.Asn261Ile) rs1811461476
NM_002485.5(NBN):c.786C>G (p.Phe262Leu) rs372159380
NM_002485.5(NBN):c.787T>A (p.Phe263Ile) rs1554563966
NM_002485.5(NBN):c.794C>T (p.Ala265Val) rs61612852
NM_002485.5(NBN):c.796C>G (p.Pro266Ala) rs762956906
NM_002485.5(NBN):c.802A>G (p.Thr268Ala) rs2129829282
NM_002485.5(NBN):c.805T>C (p.Cys269Arg)
NM_002485.5(NBN):c.806G>C (p.Cys269Ser) rs768822147
NM_002485.5(NBN):c.806G>T (p.Cys269Phe) rs768822147
NM_002485.5(NBN):c.808G>A (p.Val270Ile) rs1811458935
NM_002485.5(NBN):c.809T>C (p.Val270Ala) rs1811458659
NM_002485.5(NBN):c.80G>A (p.Gly27Glu) rs755171159
NM_002485.5(NBN):c.80G>C (p.Gly27Ala)
NM_002485.5(NBN):c.811G>A (p.Val271Ile) rs876659388
NM_002485.5(NBN):c.811G>T (p.Val271Phe) rs876659388
NM_002485.5(NBN):c.812T>C (p.Val271Ala) rs1811458181
NM_002485.5(NBN):c.812T>G (p.Val271Gly) rs1811458181
NM_002485.5(NBN):c.815A>T (p.Asp272Val)
NM_002485.5(NBN):c.817A>G (p.Thr273Ala)
NM_002485.5(NBN):c.818C>A (p.Thr273Lys) rs1554563912
NM_002485.5(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.5(NBN):c.81A>T (p.Gly27=) rs2129925626
NM_002485.5(NBN):c.821G>A (p.Gly274Glu)
NM_002485.5(NBN):c.825A>G (p.Ile275Met) rs2129828602
NM_002485.5(NBN):c.826A>G (p.Thr276Ala) rs1554563895
NM_002485.5(NBN):c.827C>T (p.Thr276Ile)
NM_002485.5(NBN):c.829A>G (p.Asn277Asp) rs1563559349
NM_002485.5(NBN):c.82A>G (p.Arg28Gly) rs1563584545
NM_002485.5(NBN):c.830A>C (p.Asn277Thr) rs876658579
NM_002485.5(NBN):c.832T>C (p.Ser278Pro) rs1225178489
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.5(NBN):c.835C>G (p.Gln279Glu) rs1586086585
NM_002485.5(NBN):c.836A>C (p.Gln279Pro) rs864622116
NM_002485.5(NBN):c.836A>G (p.Gln279Arg) rs864622116
NM_002485.5(NBN):c.839C>T (p.Thr280Ile) rs2129828243
NM_002485.5(NBN):c.847C>T (p.Pro283Ser) rs1811453358
NM_002485.5(NBN):c.848C>A (p.Pro283His) rs1554563853
NM_002485.5(NBN):c.851A>G (p.Asp284Gly) rs772176894
NM_002485.5(NBN):c.851A>T (p.Asp284Val)
NM_002485.5(NBN):c.852C>G (p.Asp284Glu) rs2129827918
NM_002485.5(NBN):c.853T>G (p.Cys285Gly) rs1563559186
NM_002485.5(NBN):c.854G>C (p.Cys285Ser) rs863224715
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.862A>G (p.Lys288Glu)
NM_002485.5(NBN):c.865T>A (p.Trp289Arg) rs1563559145
NM_002485.5(NBN):c.866G>T (p.Trp289Leu) rs876660117
NM_002485.5(NBN):c.867G>T (p.Trp289Cys) rs1060503475
NM_002485.5(NBN):c.868A>G (p.Ile290Val)
NM_002485.5(NBN):c.86A>G (p.Lys29Arg) rs1554569112
NM_002485.5(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.5(NBN):c.873G>C (p.Gln291His) rs786202939
NM_002485.5(NBN):c.874T>C (p.Ser292Pro) rs876660700
NM_002485.5(NBN):c.875C>T (p.Ser292Leu) rs1811450946
NM_002485.5(NBN):c.879A>G (p.Ile293Met) rs1811450612
NM_002485.5(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.5(NBN):c.882G>C (p.Met294Ile) rs1811450172
NM_002485.5(NBN):c.884A>C (p.Asp295Ala) rs1208423434
NM_002485.5(NBN):c.884A>G (p.Asp295Gly) rs1208423434
NM_002485.5(NBN):c.884A>T (p.Asp295Val) rs1208423434
NM_002485.5(NBN):c.889C>T (p.Leu297Phe)
NM_002485.5(NBN):c.890T>C (p.Leu297Pro) rs757787958
NM_002485.5(NBN):c.895A>C (p.Arg299=) rs1554563784
NM_002485.5(NBN):c.896+3A>G rs1158019133
NM_002485.5(NBN):c.896+3A>T rs1158019133
NM_002485.5(NBN):c.896+4T>A rs190843577
NM_002485.5(NBN):c.896+6G>T rs1811448021
NM_002485.5(NBN):c.897-11_897-6del rs1586076334
NM_002485.5(NBN):c.897-3T>C rs2129787405
NM_002485.5(NBN):c.899A>G (p.Gln300Arg) rs758070132
NM_002485.5(NBN):c.900A>T (p.Gln300His) rs1811152792
NM_002485.5(NBN):c.901G>A (p.Gly301Ser) rs1280333137
NM_002485.5(NBN):c.901G>C (p.Gly301Arg) rs1280333137
NM_002485.5(NBN):c.902G>T (p.Gly301Val) rs749857140
NM_002485.5(NBN):c.904C>G (p.Leu302Val) rs2129787198
NM_002485.5(NBN):c.908G>C (p.Arg303Thr)
NM_002485.5(NBN):c.910C>A (p.Pro304Thr) rs2129787141
NM_002485.5(NBN):c.911C>G (p.Pro304Arg) rs536965870
NM_002485.5(NBN):c.913A>C (p.Ile305Leu) rs1554562189
NM_002485.5(NBN):c.914T>C (p.Ile305Thr) rs1586076225
NM_002485.5(NBN):c.916C>T (p.Pro306Ser) rs1811151665
NM_002485.5(NBN):c.917C>T (p.Pro306Leu) rs1563548981
NM_002485.5(NBN):c.919G>A (p.Glu307Lys) rs1554562182
NM_002485.5(NBN):c.919G>C (p.Glu307Gln) rs1554562182
NM_002485.5(NBN):c.91T>C (p.Cys31Arg) rs876658553
NM_002485.5(NBN):c.920A>C (p.Glu307Ala)
NM_002485.5(NBN):c.920A>T (p.Glu307Val) rs2129786912
NM_002485.5(NBN):c.923C>G (p.Ala308Gly) rs1554562176
NM_002485.5(NBN):c.923C>T (p.Ala308Val) rs1554562176
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.927A>T (p.Glu309Asp) rs1811150445
NM_002485.5(NBN):c.92G>A (p.Cys31Tyr) rs1377520302
NM_002485.5(NBN):c.92G>T (p.Cys31Phe)
NM_002485.5(NBN):c.932G>A (p.Gly311Glu) rs1563548856
NM_002485.5(NBN):c.932G>T (p.Gly311Val) rs1563548856
NM_002485.5(NBN):c.936G>C (p.Leu312Phe) rs148517156
NM_002485.5(NBN):c.937G>A (p.Ala313Thr)
NM_002485.5(NBN):c.938C>A (p.Ala313Glu)
NM_002485.5(NBN):c.941T>A (p.Val314Glu) rs771086262
NM_002485.5(NBN):c.943A>G (p.Ile315Val) rs878854517
NM_002485.5(NBN):c.949A>T (p.Met317Leu) rs587782502
NM_002485.5(NBN):c.950T>A (p.Met317Lys)
NM_002485.5(NBN):c.950T>C (p.Met317Thr) rs1586075983
NM_002485.5(NBN):c.951G>A (p.Met317Ile) rs1586075972
NM_002485.5(NBN):c.952A>T (p.Thr318Ser) rs1811146499
NM_002485.5(NBN):c.953C>T (p.Thr318Ile) rs1811146292
NM_002485.5(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.5(NBN):c.956C>T (p.Thr319Ile)
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.960G>T (p.Lys320Asn) rs1554562125
NM_002485.5(NBN):c.964T>G (p.Tyr322Asp) rs1554562123
NM_002485.5(NBN):c.967T>C (p.Cys323Arg)
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr) rs730881848
NM_002485.5(NBN):c.973C>T (p.Pro325Ser) rs2129785733
NM_002485.5(NBN):c.974C>T (p.Pro325Leu) rs1586075820
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002485.5(NBN):c.977A>G (p.Gln326Arg) rs876659586
NM_002485.5(NBN):c.97A>C (p.Ile33Leu)
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_002485.5(NBN):c.980G>T (p.Gly327Val) rs1586075779
NM_002485.5(NBN):c.982C>T (p.His328Tyr)
NM_002485.5(NBN):c.983A>G (p.His328Arg) rs1554562099
NM_002485.5(NBN):c.983A>T (p.His328Leu) rs1554562099
NM_002485.5(NBN):c.986C>A (p.Pro329His) rs1386471248
NM_002485.5(NBN):c.988A>G (p.Ser330Gly) rs1554562092
NM_002485.5(NBN):c.989G>A (p.Ser330Asn) rs1811142330
NM_002485.5(NBN):c.992C>G (p.Thr331Arg) rs587782905
NM_002485.5(NBN):c.992C>T (p.Thr331Ile) rs587782905
NM_002485.5(NBN):c.993A>G (p.Thr331=) rs876659523
NM_002485.5(NBN):c.994+4A>G
NM_002485.5(NBN):c.994+5T>A rs778254433
NM_002485.5(NBN):c.994+6T>C rs1811141291
NM_002485.5(NBN):c.994G>A (p.Gly332Arg) rs1437392838
NM_002485.5(NBN):c.995-3C>T
NM_002485.5(NBN):c.995-6T>A rs1810859804
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_002485.5(NBN):c.9A>C (p.Lys3Asn)
NM_002617.4(PEX10):c.*688G>T rs886046141
NM_002617.4(PEX10):c.*744dup rs886046139
NM_002617.4(PEX10):c.*782C>A rs886046138
NM_002617.4(PEX10):c.*798C>T rs886046137
NM_002617.4(PEX10):c.*91A>G rs886046145
NM_002617.4(PEX10):c.*951G>C rs1642943783
NM_002617.4(PEX10):c.-18C>T rs1391106265
NM_002617.4(PEX10):c.-9C>T rs1406863106
NM_002617.4(PEX10):c.102C>G (p.His34Gln)
NM_002617.4(PEX10):c.104G>C (p.Ser35Thr) rs2100441138
NM_002617.4(PEX10):c.105C>G (p.Ser35Arg) rs1339846247
NM_002617.4(PEX10):c.107T>G (p.Leu36Arg)
NM_002617.4(PEX10):c.10G>A (p.Ala4Thr)
NM_002617.4(PEX10):c.110C>A (p.Ala37Glu) rs2100441107
NM_002617.4(PEX10):c.122A>T (p.Lys41Met) rs112163061
NM_002617.4(PEX10):c.148G>A (p.Glu50Lys)
NM_002617.4(PEX10):c.14C>T (p.Ala5Val)
NM_002617.4(PEX10):c.160G>A (p.Asp54Asn) rs1289859085
NM_002617.4(PEX10):c.160G>C (p.Asp54His)
NM_002617.4(PEX10):c.163G>A (p.Val55Met)
NM_002617.4(PEX10):c.178C>A (p.Leu60Ile)
NM_002617.4(PEX10):c.178C>T (p.Leu60Phe) rs2100434691
NM_002617.4(PEX10):c.191C>G (p.Ala64Gly)
NM_002617.4(PEX10):c.202A>T (p.Thr68Ser)
NM_002617.4(PEX10):c.209G>T (p.Gly70Val) rs1643096230
NM_002617.4(PEX10):c.20G>A (p.Ser7Asn)
NM_002617.4(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_002617.4(PEX10):c.22C>A (p.Pro8Thr)
NM_002617.4(PEX10):c.22C>T (p.Pro8Ser)
NM_002617.4(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_002617.4(PEX10):c.235G>A (p.Val79Met)
NM_002617.4(PEX10):c.23C>A (p.Pro8His) rs2100441590
NM_002617.4(PEX10):c.250A>G (p.Ile84Val)
NM_002617.4(PEX10):c.263C>A (p.Ser88Tyr) rs913840649
NM_002617.4(PEX10):c.266C>G (p.Ser89Trp) rs769847524
NM_002617.4(PEX10):c.26C>A (p.Pro9Gln)
NM_002617.4(PEX10):c.271C>A (p.Arg91Ser) rs747921371
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly) rs1214996893
NM_002617.4(PEX10):c.274C>T (p.Arg92Cys) rs1214996893
NM_002617.4(PEX10):c.280G>C (p.Val94Leu) rs142626035
NM_002617.4(PEX10):c.290_291inv (p.Thr97Met)
NM_002617.4(PEX10):c.297T>G (p.His99Gln)
NM_002617.4(PEX10):c.299_300delinsAT (p.Ala100Asp) rs2100429705
NM_002617.4(PEX10):c.29A>G (p.Glu10Gly) rs1367685379
NM_002617.4(PEX10):c.301G>A (p.Val101Ile)
NM_002617.4(PEX10):c.310T>G (p.Tyr104Asp)
NM_002617.4(PEX10):c.313C>G (p.Leu105Val) rs1450880054
NM_002617.4(PEX10):c.31G>A (p.Val11Met) rs1643274878
NM_002617.4(PEX10):c.338T>A (p.Leu113Gln) rs757778155
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly) rs554490737
NM_002617.4(PEX10):c.353A>C (p.Gln118Pro)
NM_002617.4(PEX10):c.358G>C (p.Asp120His) rs2100429329
NM_002617.4(PEX10):c.361C>T (p.Pro121Ser) rs1056200158
NM_002617.4(PEX10):c.374G>A (p.Arg125Gln)
NM_002617.4(PEX10):c.380T>C (p.Leu127Ser)
NM_002617.4(PEX10):c.394G>C (p.Gly132Arg)
NM_002617.4(PEX10):c.406C>T (p.Arg136Cys)
NM_002617.4(PEX10):c.416C>T (p.Ser139Leu)
NM_002617.4(PEX10):c.41C>T (p.Ala14Val)
NM_002617.4(PEX10):c.422C>A (p.Ala141Glu)
NM_002617.4(PEX10):c.431G>C (p.Trp144Ser) rs760785367
NM_002617.4(PEX10):c.434T>C (p.Met145Thr)
NM_002617.4(PEX10):c.436C>G (p.Arg146Gly) rs1184194956
NM_002617.4(PEX10):c.443A>G (p.His148Arg) rs1643086674
NM_002617.4(PEX10):c.444C>A (p.His148Gln)
NM_002617.4(PEX10):c.446C>G (p.Thr149Arg) rs764948458
NM_002617.4(PEX10):c.44C>T (p.Ala15Val)
NM_002617.4(PEX10):c.452C>T (p.Thr151Ile)
NM_002617.4(PEX10):c.475G>C (p.Ala159Pro)
NM_002617.4(PEX10):c.476C>T (p.Ala159Val)
NM_002617.4(PEX10):c.479T>C (p.Leu160Pro) rs199877853
NM_002617.4(PEX10):c.4G>T (p.Ala2Ser) rs770336711
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg) rs1643273662
NM_002617.4(PEX10):c.514G>A (p.Ala172Thr)
NM_002617.4(PEX10):c.521T>A (p.Leu174His) rs1333143056
NM_002617.4(PEX10):c.526C>T (p.Arg176Trp)
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.530T>G (p.Leu177Arg) rs1643082013
NM_002617.4(PEX10):c.533A>G (p.His178Arg) rs1643081768
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.566A>G (p.Tyr189Cys) rs1278563588
NM_002617.4(PEX10):c.57G>C (p.Glu19Asp)
NM_002617.4(PEX10):c.581G>A (p.Arg194Lys) rs1643079834
NM_002617.4(PEX10):c.589G>A (p.Gly197Arg) rs1397641277
NM_002617.4(PEX10):c.600C>T (p.Tyr200=)
NM_002617.4(PEX10):c.601-1G>C
NM_002617.4(PEX10):c.601-23G>A rs1643028725
NM_002617.4(PEX10):c.601-25G>A
NM_002617.4(PEX10):c.601-29T>C rs1195070492
NM_002617.4(PEX10):c.601-36A>T rs891345902
NM_002617.4(PEX10):c.601-42C>A rs1164836731
NM_002617.4(PEX10):c.601-72_601-71del
NM_002617.4(PEX10):c.601-76C>G
NM_002617.4(PEX10):c.601C>G (p.Leu201Val)
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser) rs149615608
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys) rs149615608
NM_002617.4(PEX10):c.605G>C (p.Arg202Pro)
NM_002617.4(PEX10):c.610C>T (p.Arg204Cys)
NM_002617.4(PEX10):c.611G>C (p.Arg204Pro)
NM_002617.4(PEX10):c.619C>T (p.Pro207Ser)
NM_002617.4(PEX10):c.61T>C (p.Tyr21His) rs2100441317
NM_002617.4(PEX10):c.632T>C (p.Leu211Pro)
NM_002617.4(PEX10):c.638C>T (p.Ala213Val)
NM_002617.4(PEX10):c.640C>G (p.Arg214Gly)
NM_002617.4(PEX10):c.643G>A (p.Val215Ile)
NM_002617.4(PEX10):c.64C>T (p.Arg22Cys)
NM_002617.4(PEX10):c.67G>A (p.Gly23Ser)
NM_002617.4(PEX10):c.688C>A (p.Leu230Met) rs1208421193
NM_002617.4(PEX10):c.68G>A (p.Gly23Asp) rs753786568
NM_002617.4(PEX10):c.68G>C (p.Gly23Ala)
NM_002617.4(PEX10):c.695T>C (p.Met232Thr)
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser) rs61736380
NM_002617.4(PEX10):c.729G>C (p.Gln243His) rs2100422638
NM_002617.4(PEX10):c.731G>A (p.Arg244Gln)
NM_002617.4(PEX10):c.737G>A (p.Arg246Lys) rs1335499698
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002617.4(PEX10):c.742G>A (p.Glu248Lys)
NM_002617.4(PEX10):c.744G>C (p.Glu248Asp)
NM_002617.4(PEX10):c.749G>A (p.Arg250Lys)
NM_002617.4(PEX10):c.757C>G (p.Arg253Gly)
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys) rs756537855
NM_002617.4(PEX10):c.758G>T (p.Arg253Leu) rs750769868
NM_002617.4(PEX10):c.768T>A (p.Ser256=) rs368439785
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly) rs760632208
NM_002617.4(PEX10):c.772C>T (p.Arg258Cys)
NM_002617.4(PEX10):c.776+4C>G
NM_002617.4(PEX10):c.776+4C>T rs374719922
NM_002617.4(PEX10):c.778G>C (p.Ala260Pro)
NM_002617.4(PEX10):c.77G>A (p.Arg26Gln)
NM_002617.4(PEX10):c.785T>G (p.Leu262Trp) rs748829349
NM_002617.4(PEX10):c.787GAG[1] (p.Glu264del)
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser) rs1643011506
NM_002617.4(PEX10):c.799G>A (p.Val267Ile)
NM_002617.4(PEX10):c.811C>T (p.Pro271Ser) rs886043542
NM_002617.4(PEX10):c.817T>C (p.Cys273Arg)
NM_002617.4(PEX10):c.817T>G (p.Cys273Gly) rs747389749
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg) rs1257672002
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.841A>G (p.Arg281Gly) rs2100421628
NM_002617.4(PEX10):c.855_857dup (p.Thr286dup) rs1553231765
NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del) rs1438047457
NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu) rs1643006514
NM_002617.4(PEX10):c.8C>T (p.Pro3Leu)
NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)
NM_002617.4(PEX10):c.908G>C (p.Ser303Thr) rs2100421331
NM_002617.4(PEX10):c.911A>G (p.Lys304Arg)
NM_002617.4(PEX10):c.912+8G>A
NM_002617.4(PEX10):c.913-9T>C rs1642980853
NM_002617.4(PEX10):c.913G>A (p.Ala305Thr) rs2100419175
NM_002617.4(PEX10):c.914C>T (p.Ala305Val)
NM_002617.4(PEX10):c.926T>A (p.Leu309His) rs1175081963
NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)
NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)
NM_002617.4(PEX10):c.92G>A (p.Gly31Asp) rs1643271462
NM_002617.4(PEX10):c.931C>G (p.Arg311Gly) rs765965290
NM_002617.4(PEX10):c.944C>G (p.Pro315Arg) rs2100418995
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser) rs1642979023
NM_002617.4(PEX10):c.952A>G (p.Lys318Glu) rs762351770
NM_002617.4(PEX10):c.952_954del (p.Lys318del) rs1553231582
NM_002617.4(PEX10):c.953A>G (p.Lys318Arg) rs995942123
NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)
NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)
NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)
NM_002617.4(PEX10):c.981A>G (p.Ter327Trp) rs1358135448
NM_002617.4(PEX10):c.9_17del (p.Ala4_Ala6del) rs2100441672
NM_002618.4(PEX13):c.*1480C>G rs1680773967
NM_002618.4(PEX13):c.*1654T>G rs1680777877
NM_002618.4(PEX13):c.*1875_*1876del rs886056205
NM_002618.4(PEX13):c.*2111A>C rs1680786136
NM_002618.4(PEX13):c.*2236A>C rs146108177
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2537T>C rs1680795269
NM_002618.4(PEX13):c.*2918A>G rs1680801956
NM_002618.4(PEX13):c.*2989_*2990del rs886056210
NM_002618.4(PEX13):c.*3044del rs886056212
NM_002618.4(PEX13):c.*318G>C rs1573562372
NM_002618.4(PEX13):c.*436T>C rs1680757708
NM_002618.4(PEX13):c.*442dup rs201619544
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser) rs1680746099
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg) rs1680746099
NM_002618.4(PEX13):c.1027G>A (p.Val343Met) rs1680746493
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr) rs2104814598
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn)
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg) rs2104814606
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile)
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu) rs1680746855
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro) rs747286284
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe) rs1367527916
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg) rs1052212655
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg)
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu)
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys) rs1371570388
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala)
NM_002618.4(PEX13):c.1084A>G (p.Lys362Glu)
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu)
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr) rs550344775
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala) rs1441442802
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) rs1412376429
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln) rs1167111884
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe)
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu) rs1680750260
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser) rs1680750357
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn) rs371789976
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile)
NM_002618.4(PEX13):c.115T>G (p.Leu39Val)
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) rs1203618499
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val)
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu) rs749088744
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu) rs1680751404
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met)
NM_002618.4(PEX13):c.119T>C (p.Met40Thr)
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala) rs757604504
NM_002618.4(PEX13):c.135A>T (p.Gln45His)
NM_002618.4(PEX13):c.151G>A (p.Val51Met) rs2104803197
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.202G>A (p.Val68Met) rs1553423403
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser)
NM_002618.4(PEX13):c.208A>G (p.Thr70Ala)
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser) rs2104803233
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe)
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp)
NM_002618.4(PEX13):c.26C>A (p.Pro9His)
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) rs764069625
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) rs745620818
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser) rs1680451211
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)
NM_002618.4(PEX13):c.296G>T (p.Gly99Val)
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg) rs1230492316
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser) rs1680451583
NM_002618.4(PEX13):c.307C>G (p.Leu103Val) rs767987790
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala) rs1680108011
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro) rs372193938
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp) rs1224323223
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys)
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) rs762747711
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala)
NM_002618.4(PEX13):c.458C>T (p.Ala153Val) rs2104803452
NM_002618.4(PEX13):c.460G>A (p.Val154Ile) rs2104803454
NM_002618.4(PEX13):c.463T>C (p.Tyr155His) rs2104803455
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly) rs2104803471
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.487G>C (p.Asp163His) rs969985837
NM_002618.4(PEX13):c.488A>T (p.Asp163Val) rs2104803479
NM_002618.4(PEX13):c.508C>A (p.Arg170=) rs553968959
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)
NM_002618.4(PEX13):c.529_531del (p.Lys177del) rs1680456530
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu) rs2104787557
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp) rs2104803544
NM_002618.4(PEX13):c.562A>G (p.Ile188Val) rs1360784990
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr) rs2104803547
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln) rs777179456
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu) rs777179456
NM_002618.4(PEX13):c.568T>C (p.Tyr190His) rs2104803558
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)
NM_002618.4(PEX13):c.594G>A (p.Met198Ile) rs1388373241
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly) rs2104787633
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys) rs1336466520
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser) rs2104803612
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala)
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp) rs1680458661
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly) rs2104803638
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr) rs1207829224
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)
NM_002618.4(PEX13):c.662T>G (p.Leu221Arg) rs1475093874
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn) rs1680460565
NM_002618.4(PEX13):c.706A>G (p.Ile236Val) rs1292217685
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)
NM_002618.4(PEX13):c.712T>G (p.Leu238Val) rs1680460970
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser)
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys)
NM_002618.4(PEX13):c.723T>A (p.Ala241=) rs1205501080
NM_002618.4(PEX13):c.727A>G (p.Ile243Val)
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe) rs2104803738
NM_002618.4(PEX13):c.769C>T (p.His257Tyr)
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg)
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln)
NM_002618.4(PEX13):c.787G>C (p.Asp263His) rs766753038
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr) rs762797895
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly)
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr) rs2104812693
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly) rs2104812700
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln)
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly) rs1573560642
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)
NM_002618.4(PEX13):c.847T>G (p.Phe283Val) rs1680696228
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser)
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro) rs2104812755
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp)
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn) rs543856265
NM_002618.4(PEX13):c.871A>G (p.Ile291Val) rs1444535263
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr)
NM_002618.4(PEX13):c.883G>T (p.Ala295Ser)
NM_002618.4(PEX13):c.892A>T (p.Met298Leu) rs2104812788
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.913+1G>T
NM_002618.4(PEX13):c.913+3A>G rs2104812816
NM_002618.4(PEX13):c.955G>C (p.Asp319His)
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile) rs920607306
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002618.4(PEX13):c.978A>G (p.Ile326Met) rs1680745437
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu) rs1680745521
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp) rs1458042764
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg) rs1234870387
NM_002635.4(SLC25A3):c.*296G>T rs2097598160
NM_002635.4(SLC25A3):c.*360del rs886049922
NM_002635.4(SLC25A3):c.*429C>G rs2097598266
NM_002635.4(SLC25A3):c.-38C>T rs542602103
NM_002635.4(SLC25A3):c.1020A>G (p.Arg340=) rs1592980731
NM_002635.4(SLC25A3):c.147C>A (p.Ala49=) rs370367708
NM_002635.4(SLC25A3):c.49C>G (p.Pro17Ala) rs1294003725
NM_002635.4(SLC25A3):c.544A>G (p.Met182Val)
NM_002635.4(SLC25A3):c.666C>G (p.Leu222=) rs771170406
NM_002635.4(SLC25A3):c.814+4C>T rs886049920
NM_002635.4(SLC25A3):c.814+5G>T rs200029342
NM_002635.4(SLC25A3):c.858G>T (p.Val286=) rs750516275
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002700.3(POU4F3):c.-44C>A rs764967073
NM_002700.3(POU4F3):c.-79C>A rs563020230
NM_002700.3(POU4F3):c.309C>T (p.Leu103=) rs141235724
NM_002700.3(POU4F3):c.325C>T (p.His109Tyr) rs754773365
NM_002700.3(POU4F3):c.508C>T (p.His170Tyr) rs1190889679
NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys) rs886060063
NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro) rs1760429451
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg)
NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala) rs1020008447
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) rs1465371108
NM_002700.3(POU4F3):c.770C>T (p.Ala257Val) rs765036368
NM_002700.3(POU4F3):c.960del (p.Trp321fs)
NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg) rs777632466
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)
NM_002855.5(NECTIN1):c.*1087G>A rs778554225
NM_002855.5(NECTIN1):c.*1108G>C rs377399603
NM_002855.5(NECTIN1):c.*1126C>T rs543126843
NM_002855.5(NECTIN1):c.*1179C>G rs142206052
NM_002855.5(NECTIN1):c.*1654C>G rs1864696619
NM_002855.5(NECTIN1):c.*165G>T rs574144297
NM_002855.5(NECTIN1):c.*1760C>G rs1864692767
NM_002855.5(NECTIN1):c.*2692C>G rs1864675866
NM_002855.5(NECTIN1):c.*269C>T rs138302957
NM_002855.5(NECTIN1):c.*2733T>C rs79306256
NM_002855.5(NECTIN1):c.*2750C>T rs1433590018
NM_002855.5(NECTIN1):c.*2852T>G rs1864673248
NM_002855.5(NECTIN1):c.*2902A>C rs372246353
NM_002855.5(NECTIN1):c.*3087C>G rs575574028
NM_002855.5(NECTIN1):c.*3174C>A rs1864665824
NM_002855.5(NECTIN1):c.*3351G>A rs1051657215
NM_002855.5(NECTIN1):c.*3405A>C rs1864660056
NM_002855.5(NECTIN1):c.*3647G>T rs967644002
NM_002855.5(NECTIN1):c.*46T>C rs1025182829
NM_002855.5(NECTIN1):c.*51G>C rs992478322
NM_002855.5(NECTIN1):c.*53A>C rs1204545098
NM_002855.5(NECTIN1):c.*554G>A rs369160682
NM_002855.5(NECTIN1):c.*72C>G rs59612995
NM_002855.5(NECTIN1):c.*780G>T rs115196807
NM_002855.5(NECTIN1):c.*883T>G rs918038363
NM_002855.5(NECTIN1):c.*917G>T rs979562618
NM_002855.5(NECTIN1):c.*961G>A rs567953400
NM_002855.5(NECTIN1):c.-102C>A rs868396650
NM_002855.5(NECTIN1):c.-146A>C rs1040977053
NM_002855.5(NECTIN1):c.-151A>C rs900655328
NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln) rs375956459
NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met) rs758801522
NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=) rs116441631
NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=) rs1864734746
NM_002855.5(NECTIN1):c.328C>T (p.Arg110Cys) rs754922587
NM_002855.5(NECTIN1):c.3G>A (p.Met1Ile) rs1865957091
NM_002855.5(NECTIN1):c.42G>C (p.Trp14Cys) rs1591494857
NM_002855.5(NECTIN1):c.444T>C (p.Asn148=) rs1864986117
NM_002857.4(PEX19):c.*1462C>G rs1233628177
NM_002857.4(PEX19):c.*172G>C rs886045449
NM_002857.4(PEX19):c.*1790A>G rs886045440
NM_002857.4(PEX19):c.*2417CT[2] rs143491060
NM_002857.4(PEX19):c.*361G>A rs886045448
NM_002857.4(PEX19):c.*582G>A rs1657648265
NM_002857.4(PEX19):c.*934A>G rs886045444
NM_002857.4(PEX19):c.*998G>A rs886045443
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala) rs144256391
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp) rs766641297
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp) rs2101805810
NM_002857.4(PEX19):c.128C>T (p.Thr43Met)
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
NM_002857.4(PEX19):c.149C>A (p.Pro50His) rs11550117
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg) rs2101805717
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del) rs2101805702
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg) rs1657873152
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.187C>G (p.Leu63Val) rs1166824486
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile) rs1657846391
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser) rs963164666
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr)
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
NM_002857.4(PEX19):c.239C>T (p.Ala80Val)
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr) rs369984634
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe) rs369984634
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe) rs766263544
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly) rs1657842985
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu) rs11550119
NM_002857.4(PEX19):c.25A>G (p.Ser9Gly) rs775660692
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln) rs372422266
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
NM_002857.4(PEX19):c.338G>T (p.Gly113Val) rs2101804477
NM_002857.4(PEX19):c.347G>A (p.Gly116Asp) rs1657814596
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg) rs376684423
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr) rs2101803261
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile) rs770134866
NM_002857.4(PEX19):c.397C>G (p.Leu133Val)
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg) rs745314708
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
NM_002857.4(PEX19):c.41C>T (p.Ala14Val) rs1657957953
NM_002857.4(PEX19):c.432+3G>A
NM_002857.4(PEX19):c.441C>T (p.Ser147=) rs745392627
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu) rs2101810529
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg) rs2101802695
NM_002857.4(PEX19):c.484A>G (p.Met162Val)
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu) rs748793476
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp) rs1657957259
NM_002857.4(PEX19):c.523A>G (p.Met175Val) rs886044114
NM_002857.4(PEX19):c.524T>C (p.Met175Thr)
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro) rs1231019046
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)
NM_002857.4(PEX19):c.532A>G (p.Ile178Val) rs2101802538
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe) rs1351664822
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
NM_002857.4(PEX19):c.5C>T (p.Ala2Val) rs1307265959
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg) rs2101800172
NM_002857.4(PEX19):c.617A>G (p.His206Arg) rs761372588
NM_002857.4(PEX19):c.617A>T (p.His206Leu) rs761372588
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly) rs367813991
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser) rs2101800093
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)
NM_002857.4(PEX19):c.694T>G (p.Phe232Val) rs2101799984
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
NM_002857.4(PEX19):c.70+5G>C rs1158588649
NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met) rs1557853548
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala) rs1040267504
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)
NM_002857.4(PEX19):c.740G>A (p.Arg247His)
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu) rs1473774134
NM_002857.4(PEX19):c.751G>A (p.Val251Met)
NM_002857.4(PEX19):c.754C>A (p.Leu252Met)
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)
NM_002857.4(PEX19):c.771+5G>A rs2101799795
NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)
NM_002857.4(PEX19):c.788A>G (p.His263Arg) rs762620480
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg) rs1657696746
NM_002857.4(PEX19):c.817-9C>A rs2101799148
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr) rs760797797
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly) rs2101799102
NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)
NM_002857.4(PEX19):c.857C>T (p.Ser286Leu) rs149976198
NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)
NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)
NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)
NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)
NM_002857.4(PEX19):c.886T>C (p.Cys296Arg) rs1557853173
NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr) rs1326449698
NM_002857.4(PEX19):c.896T>C (p.Met299Thr) rs2101798984
NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)
NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)
NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)
NM_002860.4(ALDH18A1):c.*202T>C rs886047509
NM_002860.4(ALDH18A1):c.*466T>G rs886047508
NM_002860.4(ALDH18A1):c.*644A>G rs1052895099
NM_002860.4(ALDH18A1):c.-67C>T rs886047514
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002894.3(RBBP8):c.428+6T>C
NM_002906.3(RDX):c.-240C>G rs1861484920
NM_002906.3(RDX):c.-270G>C rs901152179
NM_002906.3(RDX):c.-297C>T rs886047656
NM_002906.3(RDX):c.-309T>G rs886047658
NM_002906.4(RDX):c.*1264G>C rs1864594208
NM_002906.4(RDX):c.*1383G>A rs1864581263
NM_002906.4(RDX):c.*1632A>G rs1864570060
NM_002906.4(RDX):c.*1898A>G rs539282888
NM_002906.4(RDX):c.*2423C>T rs886047632
NM_002906.4(RDX):c.*414A>T rs1864632139
NM_002906.4(RDX):c.*474A>G rs1864629375
NM_002906.4(RDX):c.*762C>A rs1319399412
NM_002906.4(RDX):c.*800C>T rs886047644
NM_002906.4(RDX):c.1162C>A (p.Arg388=) rs754563690
NM_002906.4(RDX):c.1188T>C (p.Ala396=) rs886047647
NM_002906.4(RDX):c.1195G>A (p.Ala399Thr) rs886047646
NM_002906.4(RDX):c.1411C>G (p.Pro471Ala) rs138560358
NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) rs1864714177
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)
NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) rs140180881
NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) rs199573785
NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) rs1864709166
NM_002906.4(RDX):c.301C>T (p.Leu101Phe) rs770252893
NM_002906.4(RDX):c.354G>T (p.Pro118=) rs144543614
NM_002906.4(RDX):c.573C>A (p.Tyr191Ter) rs139960434
NM_002906.4(RDX):c.836G>T (p.Arg279Leu) rs150863373
NM_002906.4(RDX):c.910C>T (p.Gln304Ter) rs893826250
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) rs1739849007
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=) rs2083146343
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.1432TTC[2] (p.Phe480del)
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr) rs144700897
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003052.5(SLC34A1):c.644+5G>A
NM_003052.5(SLC34A1):c.644+5G>C
NM_003104.6(SORD):c.287C>T (p.Pro96Leu)
NM_003104.6(SORD):c.306TGA[1] (p.Asp103del)
NM_003104.6(SORD):c.50C>T (p.Pro17Leu)
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003104.6(SORD):c.787-3C>G
NM_003193.5(TBCE):c.*132A>G rs1682693904
NM_003193.5(TBCE):c.*133T>G rs1455426794
NM_003193.5(TBCE):c.*177T>C rs886046153
NM_003193.5(TBCE):c.*60_*62dup rs886046152
NM_003193.5(TBCE):c.-92C>G rs886046147
NM_003193.5(TBCE):c.100+13TG[25] rs10524346
NM_003193.5(TBCE):c.100+13TG[27] rs10524346
NM_003193.5(TBCE):c.100+13TG[28] rs10524346
NM_003193.5(TBCE):c.100+15T>G rs886046149
NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys) rs750744949
NM_003193.5(TBCE):c.1491_1491+4dup rs746593718
NM_003193.5(TBCE):c.155G>A (p.Ser52Asn) rs2102857663
NM_003193.5(TBCE):c.159C>T (p.His53=) rs754279473
NM_003193.5(TBCE):c.737+15C>T rs886046150
NM_003193.5(TBCE):c.786T>G (p.Asn262Lys)
NM_003193.5(TBCE):c.898+6T>C rs759799813
NM_003193.5(TBCE):c.981G>A (p.Glu327=) rs886046151
NM_003383.5(VLDLR):c.*214C>T rs189180202
NM_003383.5(VLDLR):c.*351C>G rs1818497609
NM_003383.5(VLDLR):c.*45C>T rs920949909
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*98G>A rs543466401
NM_003383.5(VLDLR):c.-302T>C rs1007541973
NM_003383.5(VLDLR):c.-303C>G rs1816795166
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-99C>G rs1816811812
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) rs144724569
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1971C>T (p.Val657=) rs1039272492
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) rs1818184738
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg) rs1454735635
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu) rs1818271045
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=) rs1300402424
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
NM_003383.5(VLDLR):c.449-112G>A
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.570G>C (p.Pro190=) rs116556362
NM_003383.5(VLDLR):c.711C>G (p.Thr237=) rs781637501
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
NM_003383.5(VLDLR):c.828A>C (p.Arg276=) rs777520243
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) rs886063808
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) rs886063809
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) rs1817930978
NM_003384.3(VRK1):c.*104A>G rs1889251007
NM_003384.3(VRK1):c.*171C>A rs1889253340
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*338A>G rs1889259011
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu) rs1261157260
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly) rs1888350254
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val) rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg) rs779911846
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro) rs1566713262
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
NM_003384.3(VRK1):c.1069-6T>C rs1889016062
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met) rs1595691552
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg) rs2139748832
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg) rs1470768259
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala) rs1168205465
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro) rs199759408
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg) rs1595691599
NM_003384.3(VRK1):c.1160-2A>G rs199916225
NM_003384.3(VRK1):c.1160-5T>C rs2139857584
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
NM_003384.3(VRK1):c.184G>A (p.Val62Ile) rs1555360117
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
NM_003384.3(VRK1):c.217-3A>G rs1009112116
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062
NM_003384.3(VRK1):c.238C>G (p.Leu80Val) rs2139779081
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys) rs2139779137
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro) rs1887677369
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly) rs1887746110
NM_003384.3(VRK1):c.374+11G>A rs937625087
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp) rs1888003676
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu) rs764788560
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) rs1888005284
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu) rs763034734
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser) rs888338488
NM_003384.3(VRK1):c.483T>A (p.Ile161=) rs1888008625
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro) rs1888014947
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg) rs888762581
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup) rs2139796397
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg) rs1566708080
NM_003384.3(VRK1):c.544A>C (p.Asn182His) rs745552947
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del) rs774219368
NM_003384.3(VRK1):c.551T>A (p.Leu184His) rs1888017746
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe) rs748878251
NM_003384.3(VRK1):c.586G>C (p.Val196Leu) rs372089106
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp) rs1555361508
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly) rs757917768
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser) rs2139802156
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro) rs1478722226
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp) rs1888144387
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg) rs768822328
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe) rs1566696565
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu) rs1888147421
NM_003384.3(VRK1):c.817G>C (p.Asp273His) rs1595677216
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys) rs1888148684
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.8G>A (p.Arg3His) rs902439355
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu) rs761494436
NM_003384.3(VRK1):c.962G>A (p.Arg321His) rs200927943
NM_003384.3(VRK1):c.967A>G (p.Ile323Val) rs754315181
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg) rs2139814873
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser) rs368577086
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) rs1354334539
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003504.5(CDC45):c.791C>A (p.Ser264Tyr) rs151279621
NM_003573.2(LTBP4):c.213C>A (p.Leu71=) rs886054443
NM_003573.2(LTBP4):c.231-14C>G rs2081412659
NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)
NM_003573.2(LTBP4):c.273G>C (p.Arg91=) rs2081413206
NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) rs2081414000
NM_003573.2(LTBP4):c.76-2A>G
NM_003619.4(PRSS12):c.*1431C>T rs548846144
NM_003619.4(PRSS12):c.*1577A>G rs1742810283
NM_003619.4(PRSS12):c.*1699T>C rs886059024
NM_003619.4(PRSS12):c.*260C>T rs886059031
NM_003619.4(PRSS12):c.*263A>G rs957795451
NM_003619.4(PRSS12):c.*278T>A rs886059030
NM_003619.4(PRSS12):c.*526T>A rs886059029
NM_003619.4(PRSS12):c.*531C>A rs886059028
NM_003619.4(PRSS12):c.*830C>T rs886059026
NM_003619.4(PRSS12):c.*839T>C rs1343646133
NM_003619.4(PRSS12):c.*842C>G rs886059025
NM_003619.4(PRSS12):c.*849C>T rs1742836402
NM_003619.4(PRSS12):c.*906A>G rs1742834260
NM_003619.4(PRSS12):c.*950A>C rs1314051273
NM_003619.4(PRSS12):c.113C>T (p.Pro38Leu)
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) rs761103069
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly) rs1743806508
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter) rs1560774339
NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=) rs886059035
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=) rs1743319957
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=) rs886059034
NM_003619.4(PRSS12):c.1917-4T>C rs1743223579
NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)
NM_003619.4(PRSS12):c.195C>T (p.Phe65=) rs1671147684
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser) rs371384574
NM_003619.4(PRSS12):c.2040-1G>C rs780630558
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly) rs369577707
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His) rs558433873
NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro) rs767822958
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys) rs1724538705
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg) rs1191488477
NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu) rs755655664
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp) rs72677056
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn) rs1723924890
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu) rs1723924725
NM_003630.3(PEX3):c.*1074A>G rs553070296
NM_003630.3(PEX3):c.*1226A>T rs999619029
NM_003630.3(PEX3):c.*1305C>T rs886061137
NM_003630.3(PEX3):c.*307TA[7] rs1326299129
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*377C>T rs1584020851
NM_003630.3(PEX3):c.*708A>G rs1780365449
NM_003630.3(PEX3):c.*742A>G rs1780365756
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*822A>G rs1780366359
NM_003630.3(PEX3):c.*985T>G rs1212183517
NM_003630.3(PEX3):c.-150CT[3] rs886061131
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.1048A>C (p.Thr350Pro) rs1780354202
NM_003630.3(PEX3):c.16T>C (p.Trp6Arg) rs769405267
NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile) rs1780065436
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala) rs1780071841
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132
NM_003673.4(TCAP):c.*418C>T rs45500896
NM_003673.4(TCAP):c.111-13C>A rs773913117
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val) rs2057251619
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg) rs1355624192
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser) rs761498487
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
NM_003673.4(TCAP):c.478A>G (p.Met160Val) rs1057106389
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro) rs1555606961
NM_003701.4(TNFSF11):c.*119C>T rs200387399
NM_003701.4(TNFSF11):c.*221G>C rs1315042884
NM_003701.4(TNFSF11):c.*242A>G rs1594485076
NM_003701.4(TNFSF11):c.*261G>A rs995293287
NM_003701.4(TNFSF11):c.*94T>G rs886050252
NM_003701.4(TNFSF11):c.-147C>T rs1873177411
NM_003701.4(TNFSF11):c.-74C>T rs569615616
NM_003701.4(TNFSF11):c.-7G>C rs998463381
NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) rs199910582
NM_003701.4(TNFSF11):c.2T>C (p.Met1Thr)
NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) rs199529587
NM_003701.4(TNFSF11):c.433+13C>G rs1869132236
NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) rs770524066
NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) rs760748407
NM_003754.3(EIF3F):c.653+3G>T rs200275224
NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)
NM_003790.3(TNFRSF25):c.-51A>G rs1644367397
NM_003801.4(GPAA1):c.1051G>C (p.Glu351Gln) rs2129945017
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.1621C>T (p.Arg541Trp)
NM_003801.4(GPAA1):c.1A>C (p.Met1Leu)
NM_003801.4(GPAA1):c.29G>A (p.Arg10Gln) rs1020852262
NM_003801.4(GPAA1):c.499G>C (p.Ala167Pro)
NM_003801.4(GPAA1):c.578A>G (p.Glu193Gly)
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe) rs199846727
NM_003823.4(TNFRSF6B):c.*3C>T rs1270503048
NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs) rs1305695581
NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val) rs1555816251
NM_003823.4(TNFRSF6B):c.769C>A (p.Leu257Met) rs1301451713
NM_003823.4(TNFRSF6B):c.787G>A (p.Glu263Lys) rs781286204
NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=) rs541025487
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1301G>A rs45607736
NM_003839.4(TNFRSF11A):c.*1416C>T rs564830684
NM_003839.4(TNFRSF11A):c.*2289G>A rs1439582614
NM_003839.4(TNFRSF11A):c.*320G>C rs368158690
NM_003839.4(TNFRSF11A):c.*454T>G rs886054090
NM_003839.4(TNFRSF11A):c.*464T>A rs1911661759
NM_003839.4(TNFRSF11A):c.*502G>T rs1018177597
NM_003839.4(TNFRSF11A):c.*556A>G rs886054092
NM_003839.4(TNFRSF11A):c.*625A>C rs1258163731
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.240G>T (p.Trp80Cys)
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser) rs766330561
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) rs886054083
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220
NM_003860.4(BANF1):c.*120T>A rs886048518
NM_003860.4(BANF1):c.*143T>A rs1478691828
NM_003860.4(BANF1):c.*182T>C rs1856076940
NM_003860.4(BANF1):c.*209T>G rs886048519
NM_003860.4(BANF1):c.*64T>A rs886048517
NM_003860.4(BANF1):c.-60C>T rs554069413
NM_003860.4(BANF1):c.-62A>G rs886048516
NM_003896.3(ST3GAL5):c.-102G>C rs886056395
NM_003896.3(ST3GAL5):c.-103G>C rs947227790
NM_003896.3(ST3GAL5):c.-99G>A rs1045409068
NM_003896.4(ST3GAL5):c.*1001G>A rs573396724
NM_003896.4(ST3GAL5):c.*140A>T rs531229046
NM_003896.4(ST3GAL5):c.*140del rs550737011
NM_003896.4(ST3GAL5):c.*147C>T rs1017206945
NM_003896.4(ST3GAL5):c.*260G>A rs112475538
NM_003896.4(ST3GAL5):c.*344C>T rs1681790908
NM_003896.4(ST3GAL5):c.*363A>C rs886056389
NM_003896.4(ST3GAL5):c.*609G>C rs886056387
NM_003896.4(ST3GAL5):c.*649C>T rs1681754258
NM_003896.4(ST3GAL5):c.*950G>A rs886056386
NM_003896.4(ST3GAL5):c.-43G>T rs928733801
NM_003896.4(ST3GAL5):c.-53G>A rs886056394
NM_003896.4(ST3GAL5):c.1003G>C (p.Asp335His)
NM_003896.4(ST3GAL5):c.1008+6T>G rs1682510472
NM_003896.4(ST3GAL5):c.1040T>C (p.Val347Ala) rs1681871908
NM_003896.4(ST3GAL5):c.104A>G (p.Tyr35Cys)
NM_003896.4(ST3GAL5):c.1060G>A (p.Asp354Asn) rs749966729
NM_003896.4(ST3GAL5):c.1079G>A (p.Gly360Asp) rs1313087028
NM_003896.4(ST3GAL5):c.1093C>T (p.Leu365Phe)
NM_003896.4(ST3GAL5):c.1097A>G (p.Asn366Ser) rs1681862398
NM_003896.4(ST3GAL5):c.1109C>T (p.Thr370Ile) rs367760178
NM_003896.4(ST3GAL5):c.1117C>T (p.His373Tyr) rs2104584101
NM_003896.4(ST3GAL5):c.1126G>C (p.Asp376His) rs147305893
NM_003896.4(ST3GAL5):c.1164G>A (p.Met388Ile) rs950472318
NM_003896.4(ST3GAL5):c.1192del (p.Leu398fs)
NM_003896.4(ST3GAL5):c.119G>T (p.Ser40Ile) rs939599344
NM_003896.4(ST3GAL5):c.1204G>C (p.Val402Leu)
NM_003896.4(ST3GAL5):c.1244A>T (p.Asp415Val) rs1681837789
NM_003896.4(ST3GAL5):c.1247G>A (p.Arg416His) rs200683924
NM_003896.4(ST3GAL5):c.143A>C (p.Gln48Pro)
NM_003896.4(ST3GAL5):c.149A>G (p.Tyr50Cys) rs2104079623
NM_003896.4(ST3GAL5):c.152C>G (p.Thr51Ser) rs1326738565
NM_003896.4(ST3GAL5):c.158C>T (p.Ala53Val) rs2104079423
NM_003896.4(ST3GAL5):c.161A>C (p.Gln54Pro) rs1684934747
NM_003896.4(ST3GAL5):c.167A>G (p.Lys56Arg) rs1336784366
NM_003896.4(ST3GAL5):c.16G>A (p.Ala6Thr) rs1688074283
NM_003896.4(ST3GAL5):c.181A>G (p.Ser61Gly)
NM_003896.4(ST3GAL5):c.182G>A (p.Ser61Asn) rs577828669
NM_003896.4(ST3GAL5):c.20G>T (p.Gly7Val)
NM_003896.4(ST3GAL5):c.230T>C (p.Val77Ala)
NM_003896.4(ST3GAL5):c.266C>T (p.Thr89Ile) rs1684692890
NM_003896.4(ST3GAL5):c.26C>G (p.Ala9Gly) rs1297672649
NM_003896.4(ST3GAL5):c.287_289del (p.Lys96del) rs779767507
NM_003896.4(ST3GAL5):c.288A>T (p.Lys96Asn) rs2104058271
NM_003896.4(ST3GAL5):c.296A>G (p.Tyr99Cys) rs568003096
NM_003896.4(ST3GAL5):c.296A>T (p.Tyr99Phe) rs568003096
NM_003896.4(ST3GAL5):c.304C>G (p.Pro102Ala) rs753590309
NM_003896.4(ST3GAL5):c.311A>T (p.His104Leu) rs1138484
NM_003896.4(ST3GAL5):c.318+6A>T rs374943174
NM_003896.4(ST3GAL5):c.319-14T>C
NM_003896.4(ST3GAL5):c.326A>G (p.Gln109Arg)
NM_003896.4(ST3GAL5):c.331T>C (p.Tyr111His) rs771210773
NM_003896.4(ST3GAL5):c.343G>A (p.Val115Ile) rs768713355
NM_003896.4(ST3GAL5):c.344T>A (p.Val115Asp) rs1370274550
NM_003896.4(ST3GAL5):c.34C>T (p.Arg12Cys) rs1688072283
NM_003896.4(ST3GAL5):c.359G>A (p.Cys120Tyr) rs1683042112
NM_003896.4(ST3GAL5):c.362G>A (p.Arg121His) rs144154879
NM_003896.4(ST3GAL5):c.369_371del (p.Lys123_Phe124delinsAsn) rs2103960667
NM_003896.4(ST3GAL5):c.372T>A (p.Phe124Leu) rs2103960645
NM_003896.4(ST3GAL5):c.379A>G (p.Thr127Ala) rs907536067
NM_003896.4(ST3GAL5):c.37C>A (p.Pro13Thr) rs559756386
NM_003896.4(ST3GAL5):c.408G>T (p.Arg136Ser)
NM_003896.4(ST3GAL5):c.415G>T (p.Val139Leu) rs377046345
NM_003896.4(ST3GAL5):c.424C>T (p.Leu142Phe) rs762954685
NM_003896.4(ST3GAL5):c.43C>A (p.Gln15Lys)
NM_003896.4(ST3GAL5):c.443C>T (p.Ala148Val) rs745590126
NM_003896.4(ST3GAL5):c.44A>G (p.Gln15Arg) rs1280213817
NM_003896.4(ST3GAL5):c.478C>T (p.Pro160Ser)
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_003896.4(ST3GAL5):c.479C>T (p.Pro160Leu) rs1553405319
NM_003896.4(ST3GAL5):c.481C>T (p.Pro161Ser) rs2103959617
NM_003896.4(ST3GAL5):c.482C>T (p.Pro161Leu) rs1683022718
NM_003896.4(ST3GAL5):c.488G>A (p.Gly163Glu) rs1573596219
NM_003896.4(ST3GAL5):c.493C>T (p.Arg165Trp)
NM_003896.4(ST3GAL5):c.4C>G (p.Arg2Gly) rs1688076303
NM_003896.4(ST3GAL5):c.4C>T (p.Arg2Trp) rs1688076303
NM_003896.4(ST3GAL5):c.503C>T (p.Ser168Phe)
NM_003896.4(ST3GAL5):c.509A>G (p.Lys170Arg) rs2103959368
NM_003896.4(ST3GAL5):c.518C>T (p.Thr173Ile) rs1558653854
NM_003896.4(ST3GAL5):c.556C>T (p.His186Tyr) rs886056393
NM_003896.4(ST3GAL5):c.561G>C (p.Leu187Phe) rs1683013552
NM_003896.4(ST3GAL5):c.577C>T (p.Arg193Trp)
NM_003896.4(ST3GAL5):c.578G>A (p.Arg193Gln)
NM_003896.4(ST3GAL5):c.592A>T (p.Ile198Phe) rs2103958837
NM_003896.4(ST3GAL5):c.5G>T (p.Arg2Leu) rs1469697796
NM_003896.4(ST3GAL5):c.608T>C (p.Ile203Thr) rs932969294
NM_003896.4(ST3GAL5):c.649G>A (p.Asp217Asn) rs767789131
NM_003896.4(ST3GAL5):c.649G>C (p.Asp217His) rs767789131
NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)
NM_003896.4(ST3GAL5):c.662+4C>T
NM_003896.4(ST3GAL5):c.68C>T (p.Ala23Val) rs985025319
NM_003896.4(ST3GAL5):c.697C>T (p.His233Tyr) rs2103949663
NM_003896.4(ST3GAL5):c.701T>G (p.Val234Gly)
NM_003896.4(ST3GAL5):c.703G>A (p.Gly235Arg) rs1682812794
NM_003896.4(ST3GAL5):c.70C>A (p.Pro24Thr)
NM_003896.4(ST3GAL5):c.715A>G (p.Thr239Ala) rs1682811858
NM_003896.4(ST3GAL5):c.718A>C (p.Ile240Leu) rs1321129818
NM_003896.4(ST3GAL5):c.719T>A (p.Ile240Lys)
NM_003896.4(ST3GAL5):c.746C>T (p.Pro249Leu) rs1682807408
NM_003896.4(ST3GAL5):c.770C>G (p.Ser257Cys) rs2103949125
NM_003896.4(ST3GAL5):c.77G>C (p.Gly26Ala) rs1688068633
NM_003896.4(ST3GAL5):c.801G>A (p.Lys267=)
NM_003896.4(ST3GAL5):c.80G>A (p.Arg27Gln) rs1688068233
NM_003896.4(ST3GAL5):c.82+4C>T rs2104281726
NM_003896.4(ST3GAL5):c.831G>A (p.Met277Ile) rs751569436
NM_003896.4(ST3GAL5):c.850C>T (p.Pro284Ser) rs1682539144
NM_003896.4(ST3GAL5):c.860T>C (p.Val287Ala)
NM_003896.4(ST3GAL5):c.861A>T (p.Val287=) rs886056392
NM_003896.4(ST3GAL5):c.8C>G (p.Thr3Arg) rs913893607
NM_003896.4(ST3GAL5):c.922A>G (p.Ile308Val) rs1444325254
NM_003896.4(ST3GAL5):c.963C>G (p.Ile321Met) rs1395818245
NM_003896.4(ST3GAL5):c.984G>T (p.Gln328His) rs1573580842
NM_003896.4(ST3GAL5):c.997G>A (p.Gly333Ser) rs2103935120
NM_003896.4(ST3GAL5):c.998del (p.Gly333fs)
NM_003937.3(KYNU):c.865T>C (p.Phe289Leu)
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-263C>G rs1593353804
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.154G>C (p.Val52Leu) rs1555341987
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg) rs1555341986
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.6(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.301_303del (p.Glu101del) rs1555341937
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu) rs1959059283
NM_004004.6(GJB2):c.349G>T (p.Asp117Tyr) rs2137307822
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del) rs1555341874
NM_004004.6(GJB2):c.446C>A (p.Ala149Asp) rs2137307574
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser) rs1555341840
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004086.3(COCH):c.*10T>A rs886050443
NM_004086.3(COCH):c.*377T>C rs1895934392
NM_004086.3(COCH):c.*568A>C rs978000615
NM_004086.3(COCH):c.113G>A (p.Gly38Asp) rs1391189162
NM_004086.3(COCH):c.126G>A (p.Arg42=) rs146115619
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn) rs1895469264
NM_004086.3(COCH):c.329A>G (p.Gln110Arg) rs1281507766
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
NM_004086.3(COCH):c.731C>T (p.Thr244Ile) rs750832640
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887
NM_004100.5(EYA4):c.*1346C>T rs772550313
NM_004100.5(EYA4):c.*1513T>C rs886061092
NM_004100.5(EYA4):c.*1532G>A rs776008831
NM_004100.5(EYA4):c.*2010A>G rs886061093
NM_004100.5(EYA4):c.*2439G>A rs1298238435
NM_004100.5(EYA4):c.*265G>A rs983068379
NM_004100.5(EYA4):c.*2750C>A rs886061097
NM_004100.5(EYA4):c.*3132C>T rs1801031145
NM_004100.5(EYA4):c.*3160C>T rs1801032975
NM_004100.5(EYA4):c.*347T>C rs1434297565
NM_004100.5(EYA4):c.*566G>T rs1800870215
NM_004100.5(EYA4):c.*756A>G rs1800887681
NM_004100.5(EYA4):c.-408G>T rs886061085
NM_004100.5(EYA4):c.-430T>C rs886061084
NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg) rs1796360086
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) rs1321644184
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.344G>C (p.Gly115Ala) rs1793929707
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004153.4(ORC1):c.*226G>C rs886046395
NM_004153.4(ORC1):c.-178C>T rs1647890881
NM_004153.4(ORC1):c.-5-12A>T rs983776269
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val) rs1300402859
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu) rs576163345
NM_004153.4(ORC1):c.1284A>C (p.Thr428=) rs776642973
NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg) rs1647126216
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile) rs1569920188
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter) rs1557567563
NM_004153.4(ORC1):c.2303+10T>C rs748117291
NM_004153.4(ORC1):c.392G>T (p.Gly131Val) rs886046399
NM_004153.4(ORC1):c.521C>T (p.Ala174Val)
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile) rs994616612
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_004369.4(COL6A3):c.5500+3A>C rs1345603228
NM_004393.6(DAG1):c.1005del (p.Ser336fs) rs2107932056
NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe)
NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile)
NM_004393.6(DAG1):c.1040T>C (p.Ile347Thr)
NM_004393.6(DAG1):c.1075A>G (p.Arg359Gly) rs2051347944
NM_004393.6(DAG1):c.1081C>T (p.Pro361Ser) rs1248397261
NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala)
NM_004393.6(DAG1):c.1097C>T (p.Pro366Leu)
NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala) rs1553652891
NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser) rs780709869
NM_004393.6(DAG1):c.1150C>T (p.Pro384Ser) rs2107934008
NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp)
NM_004393.6(DAG1):c.1205G>A (p.Arg402His) rs537829489
NM_004393.6(DAG1):c.1211C>T (p.Thr404Met)
NM_004393.6(DAG1):c.1223C>T (p.Pro408Leu) rs2051353290
NM_004393.6(DAG1):c.1226G>T (p.Gly409Val)
NM_004393.6(DAG1):c.1236G>T (p.Glu412Asp) rs760924685
NM_004393.6(DAG1):c.123C>G (p.Asp41Glu) rs2050738548
NM_004393.6(DAG1):c.1255C>T (p.Pro419Ser) rs1263472474
NM_004393.6(DAG1):c.126G>C (p.Trp42Cys) rs2050738653
NM_004393.6(DAG1):c.1300C>T (p.Pro434Ser) rs2051356312
NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del) rs778752288
NM_004393.6(DAG1):c.1324A>T (p.Thr442Ser)
NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)
NM_004393.6(DAG1):c.1334C>T (p.Thr445Met)
NM_004393.6(DAG1):c.1345C>T (p.Pro449Ser)
NM_004393.6(DAG1):c.1360del (p.Arg454fs) rs2051359062
NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu)
NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)
NM_004393.6(DAG1):c.1399T>C (p.Ser467Pro) rs773540166
NM_004393.6(DAG1):c.1402A>G (p.Ile468Val)
NM_004393.6(DAG1):c.1410A>T (p.Arg470Ser)
NM_004393.6(DAG1):c.1423_1424insTT (p.Ser475fs)
NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala)
NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs) rs2107938946
NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg)
NM_004393.6(DAG1):c.1462C>G (p.Pro488Ala) rs755443084
NM_004393.6(DAG1):c.1465del (p.Arg489fs) rs2107939163
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_004393.6(DAG1):c.14T>G (p.Val5Gly)
NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr)
NM_004393.6(DAG1):c.1532G>A (p.Gly511Asp) rs775568320
NM_004393.6(DAG1):c.153C>G (p.His51Gln) rs1329844909
NM_004393.6(DAG1):c.1569C>G (p.Phe523Leu) rs1240708570
NM_004393.6(DAG1):c.160C>G (p.Leu54Val)
NM_004393.6(DAG1):c.1610C>T (p.Thr537Ile)
NM_004393.6(DAG1):c.1618C>G (p.Leu540Val)
NM_004393.6(DAG1):c.1639G>C (p.Gly547Arg)
NM_004393.6(DAG1):c.1673G>T (p.Ser558Ile)
NM_004393.6(DAG1):c.1681A>G (p.Met561Val)
NM_004393.6(DAG1):c.1688G>A (p.Gly563Asp) rs2107942332
NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe)
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr) rs374936878
NM_004393.6(DAG1):c.1729A>G (p.Met577Val)
NM_004393.6(DAG1):c.173A>T (p.His58Leu) rs956626990
NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg)
NM_004393.6(DAG1):c.1750_1751delinsT (p.Gly584fs) rs2051374109
NM_004393.6(DAG1):c.175G>A (p.Glu59Lys) rs767737417
NM_004393.6(DAG1):c.175G>T (p.Glu59Ter) rs767737417
NM_004393.6(DAG1):c.1783G>A (p.Val595Ile)
NM_004393.6(DAG1):c.1800A>T (p.Gln600His) rs755173858
NM_004393.6(DAG1):c.1801G>C (p.Gly601Arg)
NM_004393.6(DAG1):c.1804G>A (p.Asp602Asn) rs1447621250
NM_004393.6(DAG1):c.1813C>G (p.Pro605Ala) rs866228869
NM_004393.6(DAG1):c.1817C>T (p.Ala606Val)
NM_004393.6(DAG1):c.181G>A (p.Val61Ile) rs2107648206
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_004393.6(DAG1):c.1837G>T (p.Val613Leu)
NM_004393.6(DAG1):c.1874A>G (p.Lys625Arg)
NM_004393.6(DAG1):c.1874AGA[1] (p.Lys626del) rs745350022
NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser)
NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr)
NM_004393.6(DAG1):c.1911del (p.Phe637fs) rs2107946182
NM_004393.6(DAG1):c.1915G>C (p.Asp639His) rs2107946219
NM_004393.6(DAG1):c.1918C>G (p.Arg640Gly) rs1404065812
NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter)
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) rs1559580460
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu) rs368810294
NM_004393.6(DAG1):c.1969G>C (p.Val657Leu) rs2107947164
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp)
NM_004393.6(DAG1):c.1982_1983delinsTT (p.Asn661Ile) rs2051384851
NM_004393.6(DAG1):c.1999G>A (p.Glu667Lys)
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp) rs767648246
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004393.6(DAG1):c.2011A>T (p.Lys671Ter) rs2107948146
NM_004393.6(DAG1):c.2018A>C (p.Gln673Pro) rs1433049354
NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg)
NM_004393.6(DAG1):c.2051A>G (p.Asp684Gly) rs2051388402
NM_004393.6(DAG1):c.2068C>T (p.Pro690Ser) rs2107949142
NM_004393.6(DAG1):c.2072C>T (p.Ala691Val)
NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser)
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_004393.6(DAG1):c.210C>T (p.Gly70=) rs2107648464
NM_004393.6(DAG1):c.2116A>C (p.Thr706Pro) rs138386617
NM_004393.6(DAG1):c.2124_2127del (p.Gly709fs)
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) rs142572135
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_004393.6(DAG1):c.2141G>T (p.Arg714Leu) rs201488118
NM_004393.6(DAG1):c.2155A>G (p.Ile719Val)
NM_004393.6(DAG1):c.2161G>A (p.Val721Met)
NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr)
NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser)
NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr) rs1406481422
NM_004393.6(DAG1):c.2200A>G (p.Thr734Ala)
NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile)
NM_004393.6(DAG1):c.2205A>C (p.Glu735Asp)
NM_004393.6(DAG1):c.2206G>A (p.Val736Met)
NM_004393.6(DAG1):c.2207T>G (p.Val736Gly)
NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs) rs2107952051
NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser)
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_004393.6(DAG1):c.2293C>A (p.Leu765Ile) rs905804433
NM_004393.6(DAG1):c.2294T>C (p.Leu765Pro) rs2107953423
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_004393.6(DAG1):c.2315dup (p.Met772fs) rs2107953983
NM_004393.6(DAG1):c.2327G>A (p.Arg776His) rs753991804
NM_004393.6(DAG1):c.2330A>G (p.Lys777Arg) rs2107954269
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) rs1223724355
NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe)
NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln)
NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg)
NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr) rs755251035
NM_004393.6(DAG1):c.2503A>T (p.Ser835Cys)
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys) rs745846165
NM_004393.6(DAG1):c.2546A>T (p.Glu849Val) rs865854417
NM_004393.6(DAG1):c.2555C>T (p.Pro852Leu) rs764827670
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_004393.6(DAG1):c.2612C>T (p.Ala871Val)
NM_004393.6(DAG1):c.2632T>C (p.Ser878Pro) rs776376235
NM_004393.6(DAG1):c.2645A>G (p.Asn882Ser) rs2107959641
NM_004393.6(DAG1):c.2675A>G (p.Tyr892Cys) rs1394689956
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_004393.6(DAG1):c.271G>A (p.Gly91Arg) rs1193999215
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu) rs766324183
NM_004393.6(DAG1):c.286-1_287del
NM_004393.6(DAG1):c.317C>T (p.Ser106Phe) rs969302268
NM_004393.6(DAG1):c.32T>C (p.Leu11Pro)
NM_004393.6(DAG1):c.385C>T (p.His129Tyr) rs763108184
NM_004393.6(DAG1):c.409C>T (p.Arg137Trp) rs374440411
NM_004393.6(DAG1):c.42G>C (p.Ser14=) rs770996993
NM_004393.6(DAG1):c.43G>T (p.Gly15Trp) rs2107646938
NM_004393.6(DAG1):c.442A>T (p.Thr148Ser) rs1297914937
NM_004393.6(DAG1):c.462C>G (p.Ile154Met)
NM_004393.6(DAG1):c.463G>A (p.Glu155Lys)
NM_004393.6(DAG1):c.473C>G (p.Pro158Arg) rs368359780
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu) rs368359780
NM_004393.6(DAG1):c.479_482dup (p.His161fs)
NM_004393.6(DAG1):c.481C>G (p.His161Asp) rs2051326372
NM_004393.6(DAG1):c.524G>A (p.Gly175Asp) rs757948629
NM_004393.6(DAG1):c.524G>T (p.Gly175Val)
NM_004393.6(DAG1):c.551C>T (p.Ala184Val) rs1431924829
NM_004393.6(DAG1):c.552G>A (p.Ala184=) rs749602970
NM_004393.6(DAG1):c.55C>T (p.Leu19Phe) rs2107647080
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.587A>T (p.Asp196Val) rs2107926325
NM_004393.6(DAG1):c.59T>A (p.Leu20His)
NM_004393.6(DAG1):c.5G>A (p.Arg2Lys)
NM_004393.6(DAG1):c.5G>C (p.Arg2Thr)
NM_004393.6(DAG1):c.608C>T (p.Thr203Ile) rs2107926551
NM_004393.6(DAG1):c.658G>C (p.Val220Leu) rs2107927146
NM_004393.6(DAG1):c.686C>T (p.Pro229Leu)
NM_004393.6(DAG1):c.691G>T (p.Val231Leu) rs2051333513
NM_004393.6(DAG1):c.716C>T (p.Ser239Leu)
NM_004393.6(DAG1):c.727G>A (p.Ala243Thr) rs2051334627
NM_004393.6(DAG1):c.734C>T (p.Pro245Leu) rs780960166
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.751dup (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.781A>G (p.Lys261Glu) rs2107928548
NM_004393.6(DAG1):c.815C>G (p.Pro272Arg) rs371509534
NM_004393.6(DAG1):c.827G>T (p.Gly276Val)
NM_004393.6(DAG1):c.838C>A (p.Pro280Thr) rs908394465
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser) rs908394465
NM_004393.6(DAG1):c.845G>T (p.Arg282Met)
NM_004393.6(DAG1):c.854C>T (p.Ala285Val) rs1235865427
NM_004393.6(DAG1):c.889T>A (p.Trp297Arg)
NM_004393.6(DAG1):c.897C>A (p.Ile299=) rs150365056
NM_004393.6(DAG1):c.909G>C (p.Lys303Asn) rs938467092
NM_004393.6(DAG1):c.914C>T (p.Pro305Leu)
NM_004393.6(DAG1):c.928G>A (p.Val310Ile) rs755258174
NM_004393.6(DAG1):c.939del (p.Ile314fs) rs2107931013
NM_004393.6(DAG1):c.944A>G (p.His315Arg)
NM_004393.6(DAG1):c.954_959del (p.317TP[1]) rs2107931254
NM_004393.6(DAG1):c.971T>C (p.Ile324Thr)
NM_004393.6(DAG1):c.98G>T (p.Ser33Ile)
NM_004403.3(GSDME):c.-235C>T rs886062229
NM_004407.4(DMP1):c.*602C>A rs886059689
NM_004407.4(DMP1):c.*808G>A rs1729019747
NM_004407.4(DMP1):c.*850G>A rs570065274
NM_004407.4(DMP1):c.*875T>C rs1729022649
NM_004407.4(DMP1):c.1456A>G (p.Ile486Val) rs886059687
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.289A>G (p.Lys97Glu) rs886059685
NM_004407.4(DMP1):c.332A>G (p.Asp111Gly)
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala) rs1759528776
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.718G>C (p.Ala240Pro) rs1758741133
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004426.3(PHC1):c.71C>T (p.Pro24Leu) rs749021560
NM_004452.4(ESRRB):c.-191T>C rs541720695
NM_004452.4(ESRRB):c.-369G>A rs111446027
NM_004525.3(LRP2):c.*1127_*1129dup rs3083240
NM_004525.3(LRP2):c.*1128_*1129dup rs3083240
NM_004525.3(LRP2):c.*1129dup rs3083240
NM_004525.3(LRP2):c.*1130_*1131insT rs886055071
NM_004525.3(LRP2):c.*1222C>T rs886055070
NM_004525.3(LRP2):c.*481A>G rs753071422
NM_004525.3(LRP2):c.*632T>A rs1685156680
NM_004525.3(LRP2):c.*908_*910dup rs11411235
NM_004525.3(LRP2):c.*909_*910dup rs11411235
NM_004525.3(LRP2):c.*910del rs11411235
NM_004525.3(LRP2):c.*962T>A rs886055073
NM_004525.3(LRP2):c.10020G>C (p.Trp3340Cys) rs2105294700
NM_004525.3(LRP2):c.10169+6T>C
NM_004525.3(LRP2):c.10170-3C>T rs1271455574
NM_004525.3(LRP2):c.10202C>G (p.Thr3401Arg) rs200563635
NM_004525.3(LRP2):c.10211A>G (p.Asp3404Gly) rs146669420
NM_004525.3(LRP2):c.10211A>T (p.Asp3404Val) rs146669420
NM_004525.3(LRP2):c.10769-9T>G rs886055080
NM_004525.3(LRP2):c.10792G>A (p.Glu3598Lys) rs866160148
NM_004525.3(LRP2):c.10951G>A (p.Ala3651Thr) rs369245716
NM_004525.3(LRP2):c.11014+4A>C rs2105281642
NM_004525.3(LRP2):c.11203C>T (p.Leu3735Phe) rs755720299
NM_004525.3(LRP2):c.1128G>A (p.Gly376=) rs748204076
NM_004525.3(LRP2):c.11399C>G (p.Pro3800Arg) rs911625687
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=) rs745949029
NM_004525.3(LRP2):c.11683C>T (p.Arg3895Cys) rs763655058
NM_004525.3(LRP2):c.11883T>C (p.Gly3961=) rs749235665
NM_004525.3(LRP2):c.1229A>G (p.His410Arg) rs1187695296
NM_004525.3(LRP2):c.12494G>A (p.Arg4165His) rs201763999
NM_004525.3(LRP2):c.12757G>C (p.Val4253Leu)
NM_004525.3(LRP2):c.12812-6A>G rs1685888740
NM_004525.3(LRP2):c.12956G>A (p.Arg4319Gln) rs1685883691
NM_004525.3(LRP2):c.13380G>A (p.Lys4460=) rs769261622
NM_004525.3(LRP2):c.13433C>T (p.Thr4478Ile) rs1462115520
NM_004525.3(LRP2):c.13543G>A (p.Gly4515Arg) rs886055078
NM_004525.3(LRP2):c.13601A>C (p.Lys4534Thr) rs757334722
NM_004525.3(LRP2):c.13699C>G (p.Pro4567Ala) rs886055077
NM_004525.3(LRP2):c.13728G>A (p.Gln4576=) rs1685332890
NM_004525.3(LRP2):c.13812G>C (p.Glu4604Asp) rs932886306
NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu) rs191145030
NM_004525.3(LRP2):c.13906T>A (p.Ser4636Thr) rs1024105423
NM_004525.3(LRP2):c.1436A>C (p.Asn479Thr) rs1683642456
NM_004525.3(LRP2):c.1593C>G (p.Ser531Arg) rs148996947
NM_004525.3(LRP2):c.1606C>T (p.Pro536Ser) rs1683597925
NM_004525.3(LRP2):c.1661C>A (p.Thr554Lys)
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser) rs147295930
NM_004525.3(LRP2):c.1870G>A (p.Val624Met) rs777288693
NM_004525.3(LRP2):c.1921G>C (p.Ala641Pro) rs766780748
NM_004525.3(LRP2):c.1923T>C (p.Ala641=) rs886055091
NM_004525.3(LRP2):c.1923T>G (p.Ala641=) rs886055091
NM_004525.3(LRP2):c.1973A>T (p.Tyr658Phe) rs111360923
NM_004525.3(LRP2):c.2004G>C (p.Gly668=) rs886055090
NM_004525.3(LRP2):c.2263A>G (p.Ile755Val) rs1574205586
NM_004525.3(LRP2):c.2301G>A (p.Lys767=) rs1163346501
NM_004525.3(LRP2):c.2456G>T (p.Arg819Leu) rs142080405
NM_004525.3(LRP2):c.2640T>G (p.Ala880=) rs1690299512
NM_004525.3(LRP2):c.2784T>C (p.Phe928=) rs1690057369
NM_004525.3(LRP2):c.3509G>A (p.Gly1170Asp)
NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala) rs2105386662
NM_004525.3(LRP2):c.3668-12T>C rs566942219
NM_004525.3(LRP2):c.3676C>A (p.Pro1226Thr) rs2105383842
NM_004525.3(LRP2):c.3724A>G (p.Ile1242Val) rs764203713
NM_004525.3(LRP2):c.3734C>A (p.Pro1245Gln) rs748030992
NM_004525.3(LRP2):c.3734C>T (p.Pro1245Leu) rs748030992
NM_004525.3(LRP2):c.3843A>C (p.Gly1281=) rs886055087
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His) rs140748929
NM_004525.3(LRP2):c.4075G>A (p.Gly1359Ser) rs2105381302
NM_004525.3(LRP2):c.40C>T (p.Leu14=) rs750622215
NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr) rs767869932
NM_004525.3(LRP2):c.428-10_428-8del rs370823033
NM_004525.3(LRP2):c.428-6del rs886055093
NM_004525.3(LRP2):c.428-8del rs370823033
NM_004525.3(LRP2):c.4358C>T (p.Ser1453Phe) rs777867220
NM_004525.3(LRP2):c.4733G>T (p.Arg1578Leu) rs111733491
NM_004525.3(LRP2):c.4743A>T (p.Arg1581=) rs1347798617
NM_004525.3(LRP2):c.4755C>A (p.Asp1585Glu) rs141871628
NM_004525.3(LRP2):c.4766G>A (p.Arg1589His) rs587780385
NM_004525.3(LRP2):c.4815T>C (p.Ile1605=) rs558608884
NM_004525.3(LRP2):c.4844T>G (p.Met1615Arg)
NM_004525.3(LRP2):c.4999C>G (p.Arg1667Gly) rs867941074
NM_004525.3(LRP2):c.5099-5T>C rs886055086
NM_004525.3(LRP2):c.5113G>C (p.Ala1705Pro) rs193082017
NM_004525.3(LRP2):c.5206G>T (p.Asp1736Tyr) rs549532662
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser) rs1559027696
NM_004525.3(LRP2):c.5289T>G (p.Pro1763=) rs568311340
NM_004525.3(LRP2):c.5609T>C (p.Val1870Ala) rs148768434
NM_004525.3(LRP2):c.5609T>G (p.Val1870Gly) rs148768434
NM_004525.3(LRP2):c.5648+7A>C rs775694684
NM_004525.3(LRP2):c.5684G>T (p.Gly1895Val) rs1688797738
NM_004525.3(LRP2):c.5719G>A (p.Gly1907Ser) rs753578958
NM_004525.3(LRP2):c.573C>T (p.Gly191=) rs1254126085
NM_004525.3(LRP2):c.5983A>C (p.Ile1995Leu) rs1264416542
NM_004525.3(LRP2):c.617A>T (p.Asn206Ile) rs772314601
NM_004525.3(LRP2):c.6356C>T (p.Ala2119Val) rs2105337164
NM_004525.3(LRP2):c.6502G>A (p.Glu2168Lys) rs1014074124
NM_004525.3(LRP2):c.6524G>T (p.Arg2175Leu) rs767818490
NM_004525.3(LRP2):c.6784C>T (p.Arg2262Cys) rs751639325
NM_004525.3(LRP2):c.6785G>C (p.Arg2262Pro) rs201740125
NM_004525.3(LRP2):c.6785G>T (p.Arg2262Leu) rs201740125
NM_004525.3(LRP2):c.688C>G (p.Pro230Ala) rs200916432
NM_004525.3(LRP2):c.6980C>T (p.Thr2327Ile) rs886055084
NM_004525.3(LRP2):c.7026C>A (p.Asn2342Lys) rs1688401561
NM_004525.3(LRP2):c.7208T>G (p.Leu2403Trp) rs1209440404
NM_004525.3(LRP2):c.7227C>A (p.Ser2409Arg) rs963561778
NM_004525.3(LRP2):c.7343A>G (p.Tyr2448Cys) rs538080625
NM_004525.3(LRP2):c.7477A>G (p.Met2493Val) rs747741100
NM_004525.3(LRP2):c.7491G>T (p.Gly2497=) rs750939831
NM_004525.3(LRP2):c.785A>G (p.Asp262Gly) rs886055092
NM_004525.3(LRP2):c.7894A>C (p.Asn2632His) rs17848169
NM_004525.3(LRP2):c.7966G>A (p.Glu2656Lys) rs201403741
NM_004525.3(LRP2):c.80-7A>G rs2105516399
NM_004525.3(LRP2):c.8015G>A (p.Gly2672Asp) rs1442964514
NM_004525.3(LRP2):c.8096G>C (p.Arg2699Pro) rs867912144
NM_004525.3(LRP2):c.8123C>T (p.Ser2708Phe) rs765246382
NM_004525.3(LRP2):c.8219C>T (p.Thr2740Ile) rs1688214550
NM_004525.3(LRP2):c.8352G>A (p.Thr2784=) rs200194530
NM_004525.3(LRP2):c.8452+14A>G rs1423841768
NM_004525.3(LRP2):c.8494T>A (p.Ser2832Thr) rs1688092735
NM_004525.3(LRP2):c.8546G>C (p.Gly2849Ala) rs1688090215
NM_004525.3(LRP2):c.8579-10C>T rs1450473149
NM_004525.3(LRP2):c.8731T>A (p.Phe2911Ile) rs886055082
NM_004525.3(LRP2):c.8818A>T (p.Arg2940Trp) rs1687911228
NM_004525.3(LRP2):c.8892G>T (p.Arg2964Ser) rs149148763
NM_004525.3(LRP2):c.9032+6T>C rs368040043
NM_004525.3(LRP2):c.9157G>A (p.Glu3053Lys) rs886055081
NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu) rs2105305609
NM_004525.3(LRP2):c.9556C>A (p.Pro3186Thr) rs781272785
NM_004525.3(LRP2):c.9591C>T (p.Ile3197=) rs775516231
NM_004525.3(LRP2):c.9683A>G (p.Asn3228Ser) rs758655692
NM_004525.3(LRP2):c.974C>T (p.Pro325Leu) rs79877455
NM_004525.3(LRP2):c.9845+5G>A rs563916043
NM_004525.3(LRP2):c.9931T>C (p.Cys3311Arg) rs2105295973
NM_004525.3(LRP2):c.9999-6T>C rs767794176
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys) rs199660068
NM_004539.4(NARS1):c.1040T>C (p.Phe347Ser)
NM_004539.4(NARS1):c.1049T>C (p.Leu350Pro) rs2122428612
NM_004539.4(NARS1):c.1057C>T (p.Arg353Trp)
NM_004539.4(NARS1):c.1251+699A>G
NM_004539.4(NARS1):c.1525G>A (p.Gly509Ser) rs2122416610
NM_004539.4(NARS1):c.178A>G (p.Lys60Glu) rs2122452114
NM_004539.4(NARS1):c.245A>C (p.Lys82Thr)
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243
NM_004539.4(NARS1):c.547G>A (p.Gly183Arg) rs2122437015
NM_004539.4(NARS1):c.646G>T (p.Ala216Ser) rs2122431389
NM_004539.4(NARS1):c.889A>C (p.Thr297Pro)
NM_004560.4(ROR2):c.*106C>T rs531108921
NM_004560.4(ROR2):c.*107G>C rs189697737
NM_004560.4(ROR2):c.*125C>A rs1836869944
NM_004560.4(ROR2):c.*180C>A rs542396423
NM_004560.4(ROR2):c.*398G>C rs941756148
NM_004560.4(ROR2):c.*571G>C rs1836854224
NM_004560.4(ROR2):c.*682C>G rs1057515678
NM_004560.4(ROR2):c.-118C>T rs1832134851
NM_004560.4(ROR2):c.-135G>C rs1057515683
NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) rs1716064320
NM_004560.4(ROR2):c.1133T>C (p.Phe378Ser)
NM_004560.4(ROR2):c.1234A>G (p.Ile412Val) rs1057515681
NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg) rs1837043278
NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe) rs1564230209
NM_004560.4(ROR2):c.1644C>A (p.Pro548=) rs1836960066
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu) rs140579674
NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser) rs768160554
NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) rs1836942190
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) rs763115397
NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) rs55651110
NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr) rs55651110
NM_004560.4(ROR2):c.2208G>T (p.Arg736=) rs1587653081
NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser) rs1836916256
NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr) rs1057515680
NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn) rs199855010
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004560.4(ROR2):c.362G>A (p.Arg121Gln) rs1377209414
NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) rs771096772
NM_004560.4(ROR2):c.731G>A (p.Arg244Gln) rs55737262
NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) rs867038828
NM_004560.4(ROR2):c.938-15G>A rs1837231210
NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) rs1837228232
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp) rs1318692969
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*570C>T rs1641898212
NM_004565.3(PEX14):c.*616C>T rs541842608
NM_004565.3(PEX14):c.*685A>T rs1156589089
NM_004565.3(PEX14):c.*755del rs548721184
NM_004565.3(PEX14):c.1000G>A (p.Val334Met) rs2124650794
NM_004565.3(PEX14):c.1008T>G (p.His336Gln) rs770817636
NM_004565.3(PEX14):c.1010T>C (p.Val337Ala) rs1258983860
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys) rs1570377732
NM_004565.3(PEX14):c.101A>G (p.Lys34Arg) rs2124482101
NM_004565.3(PEX14):c.1024_1047del (p.Cys342_Asp349del) rs749458457
NM_004565.3(PEX14):c.1030G>C (p.Gly344Arg)
NM_004565.3(PEX14):c.1033G>A (p.Val345Met)
NM_004565.3(PEX14):c.1036C>A (p.Gln346Lys)
NM_004565.3(PEX14):c.1036C>G (p.Gln346Glu)
NM_004565.3(PEX14):c.1048C>T (p.Arg350Cys) rs1641869464
NM_004565.3(PEX14):c.1051C>T (p.Arg351Trp)
NM_004565.3(PEX14):c.1052G>C (p.Arg351Pro)
NM_004565.3(PEX14):c.1057G>A (p.Gly353Arg) rs1641870710
NM_004565.3(PEX14):c.1093C>T (p.Arg365Trp) rs904521069
NM_004565.3(PEX14):c.1108G>T (p.Ala370Ser) rs1557443140
NM_004565.3(PEX14):c.1119G>C (p.Glu373Asp)
NM_004565.3(PEX14):c.1120A>C (p.Ser374Arg) rs2124651161
NM_004565.3(PEX14):c.1120_1121del (p.Glu373_Ser374insTer) rs2124651144
NM_004565.3(PEX14):c.1124A>C (p.Glu375Ala) rs1337084727
NM_004565.3(PEX14):c.119G>A (p.Arg40Gln) rs573113329
NM_004565.3(PEX14):c.133C>T (p.Pro45Ser)
NM_004565.3(PEX14):c.140C>A (p.Ala47Glu) rs2124482219
NM_004565.3(PEX14):c.154T>C (p.Phe52Leu) rs2124482255
NM_004565.3(PEX14):c.168A>G (p.Lys56=)
NM_004565.3(PEX14):c.169+4C>T
NM_004565.3(PEX14):c.16C>G (p.Gln6Glu)
NM_004565.3(PEX14):c.190G>A (p.Asp64Asn) rs535743906
NM_004565.3(PEX14):c.19G>A (p.Ala7Thr)
NM_004565.3(PEX14):c.20C>T (p.Ala7Val) rs759852702
NM_004565.3(PEX14):c.229C>T (p.Pro77Ser)
NM_004565.3(PEX14):c.22G>C (p.Glu8Gln) rs2124356750
NM_004565.3(PEX14):c.236C>T (p.Ser79Phe)
NM_004565.3(PEX14):c.245C>T (p.Pro82Leu)
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.259G>A (p.Val87Ile)
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg) rs1640919599
NM_004565.3(PEX14):c.26A>G (p.Gln9Arg) rs201979629
NM_004565.3(PEX14):c.271C>G (p.Pro91Ala) rs2124602763
NM_004565.3(PEX14):c.279C>A (p.His93Gln) rs1238733367
NM_004565.3(PEX14):c.281T>G (p.Leu94Arg)
NM_004565.3(PEX14):c.286T>G (p.Ser96Ala) rs2124602826
NM_004565.3(PEX14):c.28C>T (p.Pro10Ser) rs1007978005
NM_004565.3(PEX14):c.295T>C (p.Tyr99His) rs2124602853
NM_004565.3(PEX14):c.304G>T (p.Ala102Ser) rs753731034
NM_004565.3(PEX14):c.31A>G (p.Ser11Gly) rs896802943
NM_004565.3(PEX14):c.31A>T (p.Ser11Cys) rs896802943
NM_004565.3(PEX14):c.32G>A (p.Ser11Asn) rs2124356828
NM_004565.3(PEX14):c.334C>G (p.Leu112Val)
NM_004565.3(PEX14):c.345C>G (p.Ile115Met)
NM_004565.3(PEX14):c.356T>C (p.Ile119Thr)
NM_004565.3(PEX14):c.36+3A>G rs2124356856
NM_004565.3(PEX14):c.36+5G>A rs756953282
NM_004565.3(PEX14):c.370C>T (p.His124Tyr)
NM_004565.3(PEX14):c.395T>C (p.Leu132Pro) rs1553121467
NM_004565.3(PEX14):c.413G>A (p.Gly138Asp) rs1641640630
NM_004565.3(PEX14):c.416G>T (p.Arg139Leu) rs147683525
NM_004565.3(PEX14):c.421G>A (p.Asp141Asn) rs1641641278
NM_004565.3(PEX14):c.425G>A (p.Arg142Lys) rs1641641457
NM_004565.3(PEX14):c.428A>G (p.Lys143Arg) rs2124639369
NM_004565.3(PEX14):c.442A>T (p.Met148Leu)
NM_004565.3(PEX14):c.485C>A (p.Thr162Lys) rs2124639470
NM_004565.3(PEX14):c.4_5delinsTT (p.Ala2Leu) rs2124356650
NM_004565.3(PEX14):c.517G>A (p.Val173Ile) rs200019568
NM_004565.3(PEX14):c.519C>G (p.Val173=)
NM_004565.3(PEX14):c.535C>G (p.Gln179Glu)
NM_004565.3(PEX14):c.566A>G (p.His189Arg)
NM_004565.3(PEX14):c.585+19C>T
NM_004565.3(PEX14):c.585+4C>A rs1283396816
NM_004565.3(PEX14):c.585G>A (p.Lys195=)
NM_004565.3(PEX14):c.596C>G (p.Ser199Cys) rs932537713
NM_004565.3(PEX14):c.602A>C (p.Asn201Thr) rs142285791
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr) rs758355392
NM_004565.3(PEX14):c.629A>G (p.Asn210Ser)
NM_004565.3(PEX14):c.631G>A (p.Glu211Lys) rs777737482
NM_004565.3(PEX14):c.631G>C (p.Glu211Gln)
NM_004565.3(PEX14):c.646A>C (p.Ile216Leu) rs898010278
NM_004565.3(PEX14):c.677+6_677+8del
NM_004565.3(PEX14):c.697C>G (p.Pro233Ala)
NM_004565.3(PEX14):c.700T>G (p.Ser234Ala)
NM_004565.3(PEX14):c.703G>C (p.Ala235Pro) rs778227279
NM_004565.3(PEX14):c.707C>T (p.Pro236Leu) rs141373791
NM_004565.3(PEX14):c.709A>G (p.Lys237Glu)
NM_004565.3(PEX14):c.70C>T (p.Pro24Ser)
NM_004565.3(PEX14):c.715C>T (p.Pro239Ser) rs745559681
NM_004565.3(PEX14):c.721T>C (p.Trp241Arg) rs2124649865
NM_004565.3(PEX14):c.743C>A (p.Pro248Gln) rs553512429
NM_004565.3(PEX14):c.74G>A (p.Arg25Gln)
NM_004565.3(PEX14):c.752C>T (p.Ser251Phe) rs1160685953
NM_004565.3(PEX14):c.758del (p.Pro253fs) rs35723571
NM_004565.3(PEX14):c.761C>T (p.Ala254Val) rs149265608
NM_004565.3(PEX14):c.767T>C (p.Val256Ala)
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys) rs748746721
NM_004565.3(PEX14):c.806A>C (p.Asn269Thr)
NM_004565.3(PEX14):c.80C>T (p.Pro27Leu) rs1161833863
NM_004565.3(PEX14):c.815C>T (p.Thr272Met)
NM_004565.3(PEX14):c.816GTC[1] (p.Ser275del) rs1641853895
NM_004565.3(PEX14):c.820T>C (p.Ser274Pro)
NM_004565.3(PEX14):c.850G>A (p.Glu284Lys) rs763093176
NM_004565.3(PEX14):c.854_859dup (p.Ser286_Thr287insSerSer) rs1641856216
NM_004565.3(PEX14):c.856T>C (p.Ser286Pro)
NM_004565.3(PEX14):c.857C>T (p.Ser286Phe)
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.862G>A (p.Val288Ile) rs1207319506
NM_004565.3(PEX14):c.881G>A (p.Gly294Asp)
NM_004565.3(PEX14):c.883C>A (p.Pro295Thr) rs886045017
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.889G>A (p.Glu297Lys) rs2124650376
NM_004565.3(PEX14):c.890A>C (p.Glu297Ala)
NM_004565.3(PEX14):c.904G>C (p.Val302Leu)
NM_004565.3(PEX14):c.908T>C (p.Val303Ala) rs1160257639
NM_004565.3(PEX14):c.913G>A (p.Val305Ile)
NM_004565.3(PEX14):c.92C>T (p.Thr31Met) rs1570228034
NM_004565.3(PEX14):c.937G>A (p.Val313Met)
NM_004565.3(PEX14):c.946G>A (p.Glu316Lys) rs903736101
NM_004565.3(PEX14):c.946GAG[2] (p.Glu318del) rs1557442698
NM_004565.3(PEX14):c.959_967del (p.Arg320_Asp322del) rs2124650605
NM_004565.3(PEX14):c.964G>T (p.Asp322Tyr)
NM_004565.3(PEX14):c.967A>G (p.Lys323Glu) rs368244738
NM_004565.3(PEX14):c.970G>A (p.Glu324Lys) rs1641863492
NM_004565.3(PEX14):c.976G>A (p.Glu326Lys) rs748930085
NM_004565.3(PEX14):c.992ATG[2] (p.Asp333del) rs760231440
NM_004565.3(PEX14):c.992ATG[4] (p.Asp333dup) rs760231440
NM_004565.3(PEX14):c.997G>T (p.Asp333Tyr) rs2124650787
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) rs538616923
NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)
NM_004618.5(TOP3A):c.1712G>T (p.Gly571Val)
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly) rs368294870
NM_004700.4(KCNQ4):c.1573G>A (p.Asp525Asn)
NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)
NM_004700.4(KCNQ4):c.232A>T (p.Lys78Ter)
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup) rs769859021
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
NM_004700.4(KCNQ4):c.799T>G (p.Phe267Val)
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004744.5(LRAT):c.*2418G>A rs886059170
NM_004744.5(LRAT):c.*2463T>C rs530211304
NM_004744.5(LRAT):c.*2467C>G rs886059172
NM_004744.5(LRAT):c.*2477_*2479del rs769393659
NM_004744.5(LRAT):c.*298_*301del rs886059162
NM_004744.5(LRAT):c.*313del rs146990234
NM_004744.5(LRAT):c.*3435A>C rs886059176
NM_004744.5(LRAT):c.*3459dup rs369562633
NM_004744.5(LRAT):c.*3729del rs886059177
NM_004744.5(LRAT):c.-115C>G rs886059159
NM_004744.5(LRAT):c.258G>A (p.Gly86=) rs768389044
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.4(PEX16):c.*324G>A rs879320611
NM_004813.4(PEX16):c.*376G>A rs143868125
NM_004813.4(PEX16):c.*491G>A rs886048324
NM_004813.4(PEX16):c.-63G>C rs532003586
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn)
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr)
NM_004813.4(PEX16):c.103C>G (p.Leu35Val) rs1427588700
NM_004813.4(PEX16):c.112+5C>A
NM_004813.4(PEX16):c.112+5C>T
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr)
NM_004813.4(PEX16):c.134A>T (p.Glu45Val) rs2134699091
NM_004813.4(PEX16):c.149-3C>T
NM_004813.4(PEX16):c.165C>G (p.Asn55Lys) rs746381331
NM_004813.4(PEX16):c.169C>T (p.Leu57Phe) rs1224855761
NM_004813.4(PEX16):c.16C>T (p.Leu6Phe) rs2086855399
NM_004813.4(PEX16):c.170T>C (p.Leu57Pro) rs2086834282
NM_004813.4(PEX16):c.172G>A (p.Val58Met) rs1287709761
NM_004813.4(PEX16):c.178C>G (p.Leu60Val) rs2086834164
NM_004813.4(PEX16):c.206T>G (p.Leu69Arg) rs761652611
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn)
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu)
NM_004813.4(PEX16):c.225+3G>A
NM_004813.4(PEX16):c.230T>C (p.Leu77Pro) rs2086828379
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe) rs1369455274
NM_004813.4(PEX16):c.262G>T (p.Val88Leu) rs567165324
NM_004813.4(PEX16):c.293T>C (p.Met98Thr) rs755886932
NM_004813.4(PEX16):c.306G>C (p.Lys102Asn) rs2134696027
NM_004813.4(PEX16):c.307G>C (p.Val103Leu) rs11553094
NM_004813.4(PEX16):c.310T>C (p.Trp104Arg)
NM_004813.4(PEX16):c.319G>A (p.Val107Met)
NM_004813.4(PEX16):c.334G>A (p.Val112Ile)
NM_004813.4(PEX16):c.348C>T (p.Val116=) rs886048328
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys) rs2086854813
NM_004813.4(PEX16):c.359A>T (p.Lys120Met) rs1431364536
NM_004813.4(PEX16):c.360-18A>G
NM_004813.4(PEX16):c.360-9C>A rs1316866259
NM_004813.4(PEX16):c.389G>C (p.Trp130Ser)
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr) rs749891033
NM_004813.4(PEX16):c.418C>G (p.Pro140Ala) rs749891033
NM_004813.4(PEX16):c.419C>A (p.Pro140His)
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu) rs761426585
NM_004813.4(PEX16):c.424G>A (p.Val142Ile)
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys)
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser)
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) rs1357832796
NM_004813.4(PEX16):c.459G>A (p.Pro153=) rs377135763
NM_004813.4(PEX16):c.460+3G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.461-6T>A
NM_004813.4(PEX16):c.463G>A (p.Gly155Ser) rs2134693988
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp)
NM_004813.4(PEX16):c.469C>A (p.His157Asn) rs2134693966
NM_004813.4(PEX16):c.485A>G (p.His162Arg)
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly)
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro)
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr) rs2086814861
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln)
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_004813.4(PEX16):c.554A>G (p.His185Arg) rs751814237
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser)
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln)
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu)
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys) rs770726448
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg) rs772953974
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_004813.4(PEX16):c.635C>T (p.Pro212Leu)
NM_004813.4(PEX16):c.637C>G (p.Leu213Val)
NM_004813.4(PEX16):c.649_651del (p.Glu217del) rs1403262719
NM_004813.4(PEX16):c.651G>T (p.Glu217Asp) rs761544516
NM_004813.4(PEX16):c.653C>A (p.Thr218Asn)
NM_004813.4(PEX16):c.659C>T (p.Ala220Val) rs2134692997
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.673A>G (p.Ile225Val)
NM_004813.4(PEX16):c.686T>C (p.Leu229Pro)
NM_004813.4(PEX16):c.694+6C>A rs2134692834
NM_004813.4(PEX16):c.700A>G (p.Ser234Gly)
NM_004813.4(PEX16):c.703C>G (p.Leu235Val) rs765315257
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) rs757071504
NM_004813.4(PEX16):c.707G>T (p.Gly236Val) rs2134692571
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp)
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro) rs2086807248
NM_004813.4(PEX16):c.760G>A (p.Val254Met) rs35214605
NM_004813.4(PEX16):c.778C>A (p.Leu260Met)
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg)
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn) rs2134692005
NM_004813.4(PEX16):c.805A>G (p.Arg269Gly) rs1202074085
NM_004813.4(PEX16):c.805_813dup (p.268RRE[3]) rs746516702
NM_004813.4(PEX16):c.810G>T (p.Glu270Asp)
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln) rs780754678
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro) rs2134691868
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln) rs1383363053
NM_004813.4(PEX16):c.826C>T (p.Arg276Cys) rs762568886
NM_004813.4(PEX16):c.827G>A (p.Arg276His) rs1420647698
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)
NM_004813.4(PEX16):c.861C>T (p.Arg287=) rs747883612
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)
NM_004813.4(PEX16):c.86T>G (p.Val29Gly) rs2134699660
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr)
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn)
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) rs544053792
NM_004813.4(PEX16):c.878G>A (p.Arg293His)
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly) rs2134691628
NM_004813.4(PEX16):c.888-3C>A
NM_004813.4(PEX16):c.912G>C (p.Gln304His)
NM_004813.4(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr)
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn) rs749785179
NM_004813.4(PEX16):c.922G>C (p.Asp308His) rs749785179
NM_004813.4(PEX16):c.923A>T (p.Asp308Val)
NM_004813.4(PEX16):c.928G>A (p.Val310Ile) rs771392114
NM_004813.4(PEX16):c.935G>T (p.Gly312Val)
NM_004813.4(PEX16):c.952+15G>T rs778357573
NM_004813.4(PEX16):c.952+3A>C rs2134686616
NM_004813.4(PEX16):c.952+3A>G
NM_004813.4(PEX16):c.952+6C>T
NM_004813.4(PEX16):c.953-5T>A
NM_004813.4(PEX16):c.960_961del (p.Met321fs) rs2134685523
NM_004813.4(PEX16):c.961A>G (p.Met321Val)
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr)
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)
NM_004813.4(PEX16):c.997T>C (p.Tyr333His)
NM_004830.4(MED23):c.1078-6T>G
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) rs1775691162
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) rs1775354988
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) rs866726564
NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala) rs1774628358
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) rs146599947
NM_004836.6(EIF2AK3):c.-195G>T rs886056421
NM_004836.7(EIF2AK3):c.*104A>C rs1474906844
NM_004836.7(EIF2AK3):c.*175A>T rs886056415
NM_004836.7(EIF2AK3):c.*286G>C rs886056413
NM_004836.7(EIF2AK3):c.*300TA[7] rs767645334
NM_004836.7(EIF2AK3):c.*340A>G rs1376568962
NM_004836.7(EIF2AK3):c.*408T>G rs148457589
NM_004836.7(EIF2AK3):c.*459G>T rs886056412
NM_004836.7(EIF2AK3):c.*864ATGTTT[1] rs565147927
NM_004836.7(EIF2AK3):c.*894AATC[1] rs886056411
NM_004836.7(EIF2AK3):c.-10C>T rs1291618208
NM_004836.7(EIF2AK3):c.-162G>A rs886056420
NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His) rs1675887917
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) rs747505731
NM_004836.7(EIF2AK3):c.1092T>A (p.Asn364Lys) rs886056417
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) rs947983532
NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg) rs1674645367
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) rs770192517
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) rs540704378
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser) rs189064501
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys) rs189064501
NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile) rs1675883639
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr) rs760433148
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys) rs2104411903
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg) rs369837691
NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del) rs758593623
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=) rs886056416
NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg) rs1674406193
NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser) rs755369984
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)
NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys) rs1441763585
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) rs1425626815
NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg) rs1045275032
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) rs529920914
NM_004937.2(CTNS):c.-581A>T rs1031783359
NM_004937.3(CTNS):c.*100G>T rs2076259110
NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTC rs886052872
NM_004937.3(CTNS):c.*1033_*1034insGGC rs397831765
NM_004937.3(CTNS):c.*1046_*1047dup rs772764926
NM_004937.3(CTNS):c.*1047dup rs772764926
NM_004937.3(CTNS):c.*1125C>T rs886052874
NM_004937.3(CTNS):c.*1176_*1179del rs886052875
NM_004937.3(CTNS):c.*1956_*1957del rs397856854
NM_004937.3(CTNS):c.*1957dup rs397856854
NM_004937.3(CTNS):c.*2059C>G rs2076290375
NM_004937.3(CTNS):c.*577T>C rs886052869
NM_004937.3(CTNS):c.*654G>T rs886052870
NM_004937.3(CTNS):c.*871G>C rs886052871
NM_004937.3(CTNS):c.*983G>A rs2076273486
NM_004937.3(CTNS):c.-136C>A rs886052863
NM_004937.3(CTNS):c.-23AG[1] rs550436044
NM_004937.3(CTNS):c.-272A>C rs534368692
NM_004937.3(CTNS):c.-74A>T rs886052864
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del) rs745806090
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del) rs1555564879
NM_004937.3(CTNS):c.1042G>A (p.Val348Ile)
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) rs748094459
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) rs2076255711
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu) rs762508287
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs) rs779451531
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys) rs1454743016
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.225+3A>G rs2075909295
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile) rs1295370570
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del) rs2150919478
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn) rs2076099606
NM_004937.3(CTNS):c.365C>T (p.Ala122Val) rs2076099841
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp) rs1413852868
NM_004937.3(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.462-27_462-3del rs1555563374
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.534C>A (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del) rs1555563619
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu) rs754201055
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup) rs1555563962
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser) rs200336280
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.699G>A (p.Val233=) rs2076195866
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg) rs370257007
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu) rs2076199463
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln) rs2076200184
NM_004937.3(CTNS):c.839A>C (p.Lys280Thr) rs2150925451
NM_004937.3(CTNS):c.853-3C>T rs113994210
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_004937.3(CTNS):c.916T>A (p.Phe306Ile) rs912184981
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
NM_004999.4(MYO6):c.*1011T>A rs1781098790
NM_004999.4(MYO6):c.*148T>C rs886061764
NM_004999.4(MYO6):c.*1528C>T rs188719640
NM_004999.4(MYO6):c.*186A>G rs571307356
NM_004999.4(MYO6):c.*2276A>G rs1464248220
NM_004999.4(MYO6):c.*2497A>G rs886061772
NM_004999.4(MYO6):c.*2838T>G rs1781202815
NM_004999.4(MYO6):c.*2873T>C rs1781205454
NM_004999.4(MYO6):c.*2976C>T rs1781211562
NM_004999.4(MYO6):c.*3039A>G rs540365866
NM_004999.4(MYO6):c.*3297G>C rs888964790
NM_004999.4(MYO6):c.*3475G>A rs771776668
NM_004999.4(MYO6):c.*3824A>C rs1781270510
NM_004999.4(MYO6):c.*401A>G rs200014336
NM_004999.4(MYO6):c.*4056G>A rs182280217
NM_004999.4(MYO6):c.*429T>C rs1781071721
NM_004999.4(MYO6):c.*650G>C rs191856462
NM_004999.4(MYO6):c.*875C>T rs184099248
NM_004999.4(MYO6):c.-185G>T rs566419666
NM_004999.4(MYO6):c.-19C>A rs746580223
NM_004999.4(MYO6):c.1199G>A (p.Gly400Glu) rs886061761
NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn) rs1776713738
NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile) rs771235729
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu) rs1777294344
NM_004999.4(MYO6):c.2284A>G (p.Lys762Glu) rs886061762
NM_004999.4(MYO6):c.2375G>A (p.Arg792His) rs781458857
NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) rs1778410002
NM_004999.4(MYO6):c.2787T>G (p.Ile929Met) rs886061763
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.3439+13G>T rs1362707127
NM_004999.4(MYO6):c.605A>G (p.Asn202Ser) rs886061760
NM_004999.4(MYO6):c.798T>G (p.Ser266Arg) rs1398124041
NM_005012.4(ROR1):c.1639C>T (p.Pro547Ser) rs137874089
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp) rs760355948
NM_005199.5(CHRNG):c.*508T>C rs886055787
NM_005199.5(CHRNG):c.*589_*590dup rs1553578775
NM_005199.5(CHRNG):c.*591_*592insTT rs1553578776
NM_005199.5(CHRNG):c.*609_*612dup rs57021172
NM_005199.5(CHRNG):c.*611_*612dup rs57021172
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn) rs1406594207
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1227G>A (p.Val409=) rs1692086043
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.234A>T (p.Ile78=) rs1691992464
NM_005199.5(CHRNG):c.350+4A>G
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu) rs144323121
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.708C>T (p.Leu236=) rs1308873617
NM_005219.5(DIAPH1):c.*1006T>C rs886060029
NM_005219.5(DIAPH1):c.*1309A>T rs1050712305
NM_005219.5(DIAPH1):c.*1337C>T rs886060028
NM_005219.5(DIAPH1):c.*1444T>G rs886060026
NM_005219.5(DIAPH1):c.*1544A>G rs886060025
NM_005219.5(DIAPH1):c.*332T>G rs927185230
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.*521G>A rs2099885681
NM_005219.5(DIAPH1):c.*644C>T rs527315700
NM_005219.5(DIAPH1):c.-82G>A rs886060035
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met) rs748386464
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile) rs2099896282
NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser)
NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly)
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) rs754730261
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)
NM_005219.5(DIAPH1):c.1044+15T>C rs2099896276
NM_005219.5(DIAPH1):c.1044+6A>G
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly) rs779820289
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)
NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His)
NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe)
NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr)
NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg)
NM_005219.5(DIAPH1):c.114A>G (p.Lys38=) rs2154597561
NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys)
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His) rs200927557
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) rs200927557
NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr)
NM_005219.5(DIAPH1):c.1164-3C>A rs2154596419
NM_005219.5(DIAPH1):c.1164-9C>G
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser) rs2154597560
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile) rs1437971317
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)
NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)
NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu)
NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=)
NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His)
NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile) rs2099896137
NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu)
NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile)
NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)
NM_005219.5(DIAPH1):c.1280+3A>G rs747583916
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr) rs2099896035
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)
NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr) rs1263533400
NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala)
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg) rs368435886
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) rs764490603
NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe)
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)
NM_005219.5(DIAPH1):c.1397-3C>T rs2154596393
NM_005219.5(DIAPH1):c.139G>C (p.Asp47His) rs2154596729
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser) rs2154597569
NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr) rs2154596392
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val)
NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu)
NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met)
NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg) rs2154596391
NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr)
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) rs547070097
NM_005219.5(DIAPH1):c.144+5G>C
NM_005219.5(DIAPH1):c.1461+6T>C
NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro) rs2154596348
NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe)
NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)
NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser) rs2099895764
NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg)
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met) rs1393807954
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr) rs2099897675
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys) rs2099895757
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu) rs2099897674
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) rs1453865659
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile) rs1446595487
NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn) rs377104351
NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr) rs377104351
NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala) rs2154596341
NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe)
NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile)
NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg)
NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu)
NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys)
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) rs1317819365
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=) rs2099895745
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln) rs2099895618
NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg)
NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn)
NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys) rs2154596316
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val) rs2099897673
NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg)
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) rs886042233
NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser) rs1562321607
NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr)
NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)
NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala)
NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del)
NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg)
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg)
NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser)
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu) rs2099895599
NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile)
NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu) rs953769579
NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser)
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) rs189809247
NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala)
NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=)
NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn)
NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile) rs1562321356
NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser)
NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr)
NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del) rs1285003139
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly)
NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu)
NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala) rs779887319
NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn)
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile) rs2099895593
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala) rs749881969
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu) rs1421185830
NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro)
NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg)
NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu)
NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)
NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser)
NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser)
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) rs1562320961
NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)
NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr)
NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup) rs2099895584
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup) rs773918503
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu) rs2154596301
NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His) rs774876990
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu) rs774876990
NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)
NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val)
NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp)
NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)
NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr)
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del) rs1361907715
NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro)
NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg)
NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=)
NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val) rs781398463
NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys)
NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu) rs2099895573
NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr) rs768458531
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser) rs768458531
NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His)
NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del)
NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp)
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) rs886060032
NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)
NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu)
NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser) rs931286798
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) rs201827139
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) rs367669306
NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu)
NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser)
NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)
NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys) rs1414699859
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg) rs2099895558
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) rs1323222030
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup) rs2154596291
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)
NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)
NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile) rs13174988
NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val) rs1596378879
NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr) rs2154596293
NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met) rs557522528
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser) rs1160456432
NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) rs761912885
NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)
NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu) rs761912885
NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)
NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)
NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys) rs2154596289
NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)
NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del) rs768124450
NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)
NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met) rs1436744741
NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg) rs1233431834
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del) rs746438941
NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)
NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr) rs1356506474
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser) rs1334098898
NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)
NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)
NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr) rs199830182
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr) rs576129553
NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser) rs576129553
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg) rs762356974
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu) rs762356974
NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)
NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)
NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser) rs2099895535
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg) rs770966255
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) rs373520931
NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)
NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser) rs1219615963
NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)
NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu) rs2154596280
NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)
NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu) rs2154596279
NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val) rs2154596692
NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)
NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)
NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)
NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)
NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)
NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)
NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)
NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys) rs1258812442
NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp) rs1267697203
NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val) rs750444590
NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr) rs760810515
NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)
NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)
NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala) rs1423322662
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu) rs1382690018
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)
NM_005219.5(DIAPH1):c.2307del (p.Lys771fs) rs1562319896
NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg) rs2154596262
NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)
NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)
NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala) rs2154596261
NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=) rs757635140
NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp) rs778373397
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr) rs1596376794
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser) rs1596376794
NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val) rs375471795
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp) rs2099895259
NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu) rs1371798081
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn) rs2099895253
NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)
NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)
NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu) rs2154596200
NM_005219.5(DIAPH1):c.2473+3G>A
NM_005219.5(DIAPH1):c.2473+3G>C
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr) rs2154596192
NM_005219.5(DIAPH1):c.2482+4A>G
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)
NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)
NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn) rs761209182
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys) rs2154596689
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)
NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys) rs2099888705
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe) rs150113164
NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr)
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu)
NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)
NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr) rs1596340326
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile) rs750058263
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr) rs1214856083
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)
NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile) rs562824586
NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln)
NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala)
NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly)
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn) rs767712795
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)
NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala)
NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)
NM_005219.5(DIAPH1):c.2778+2dup
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) rs1277130012
NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr)
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln) rs370578225
NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His)
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)
NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val) rs2099887788
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)
NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg) rs2154595007
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile) rs2099887778
NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser)
NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn)
NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys) rs2154595004
NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe) rs2154595003
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)
NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly) rs2154595000
NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser)
NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala)
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg) rs750068600
NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val)
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) rs1554201371
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=) rs547319575
NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg)
NM_005219.5(DIAPH1):c.3018+3G>A rs2154594998
NM_005219.5(DIAPH1):c.3018+6C>T rs2154594997
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val) rs2099897198
NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr) rs2154596616
NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr)
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu) rs376328260
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)
NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys)
NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr)
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu) rs2099887715
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)
NM_005219.5(DIAPH1):c.3148+6G>A
NM_005219.5(DIAPH1):c.3149-13_3149-3del
NM_005219.5(DIAPH1):c.3149-3T>A
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) rs1003389476
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys) rs1409823509
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro) rs2154594980
NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr) rs2154594979
NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly) rs1162981056
NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser)
NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro)
NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)
NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His)
NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val)
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer) rs1450758628
NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys)
NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile)
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup) rs2099887571
NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu) rs1012562287
NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His)
NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val)
NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu)
NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu)
NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)
NM_005219.5(DIAPH1):c.3273+19A>T
NM_005219.5(DIAPH1):c.3273+5C>T
NM_005219.5(DIAPH1):c.3273+8C>T
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys) rs2099887333
NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu) rs997606547
NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp)
NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys)
NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg)
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) rs1596337513
NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile)
NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu) rs371161306
NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr) rs893998939
NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp) rs2154594956
NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=)
NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val) rs1490710264
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) rs1554200929
NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)
NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn)
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp) rs1353583066
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val) rs2154594954
NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu)
NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)
NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly) rs369467830
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)
NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp)
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro) rs764296073
NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln)
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)
NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp) rs763106782
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe) rs769174848
NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu) rs374304870
NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)
NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu)
NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val)
NM_005219.5(DIAPH1):c.3574+5G>C
NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=)
NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)
NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)
NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val) rs2154594918
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val) rs1263494333
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg) rs2154594916
NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs)
NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg)
NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=)
NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)
NM_005219.5(DIAPH1):c.3662-3C>T
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg) rs1466328561
NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr) rs2154594798
NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile) rs2099885782
NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp) rs761387295
NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) rs1554199642
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe) rs749871871
NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met) rs1320235178
NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu) rs1320235178
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly) rs2099885774
NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser) rs751282493
NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) rs1596330487
NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe) rs2154594796
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter) rs2099885770
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu) rs371664456
NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg)
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) rs1167599945
NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)
NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)
NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu) rs753432442
NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr)
NM_005219.5(DIAPH1):c.402+19A>G
NM_005219.5(DIAPH1):c.402+5G>A
NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)
NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg) rs1337954890
NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu)
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=) rs1311391984
NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp)
NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)
NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp)
NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr) rs2154596607
NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys)
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) rs1596422064
NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser) rs748655447
NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser)
NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe) rs1562330405
NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)
NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp)
NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile) rs2154596604
NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly)
NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)
NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu)
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg) rs2099903137
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) rs370495662
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala) rs2099897043
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) rs1440102285
NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)
NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln)
NM_005219.5(DIAPH1):c.596A>G (p.His199Arg) rs2154596588
NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val)
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu) rs2154597565
NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile) rs1489026152
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr) rs2099897035
NM_005219.5(DIAPH1):c.621-3C>T
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His) rs2154596563
NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln)
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp) rs769781925
NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys)
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg) rs2099896902
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg) rs2099903133
NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu) rs2154596559
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser) rs2099896900
NM_005219.5(DIAPH1):c.684+3G>A
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu) rs1189716868
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr) rs2154596507
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)
NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)
NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr) rs1160650964
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.825-3C>T rs2099896384
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile) rs1562326443
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp) rs771016727
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)
NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val) rs1596384556
NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)
NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)
NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=) rs762960433
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys) rs1034109754
NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)
NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)
NM_005219.5(DIAPH1):c.933+3A>G
NM_005219.5(DIAPH1):c.933+5G>A rs2099896370
NM_005219.5(DIAPH1):c.933+7A>G
NM_005219.5(DIAPH1):c.934-3T>G rs886060033
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser) rs2099896293
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val) rs1214669823
NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu) rs1291832340
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr) rs1596384042
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=) rs771490830
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile) rs2154596449
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile) rs1339571940
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile) rs755219554
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys) rs145851520
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) rs374470560
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) rs1596616623
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) rs2141607630
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) rs766395322
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp) rs766395322
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) rs1203098300
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) rs770771750
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-3T>G
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) rs774900622
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) rs2032542117
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn) rs1442567731
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) rs2141619950
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu) rs2141939855
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu) rs1303709169
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) rs765253522
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) rs2141939932
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr) rs2032559742
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met) rs759042927
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) rs2032561804
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) rs1214498950
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) rs374243778
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) rs1307031587
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) rs181993439
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu) rs2032078220
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) rs2032078374
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln) rs373789508
NM_005236.3(ERCC4):c.514G>C (p.Asp172His) rs1405781900
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) rs2032105702
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) rs2032106630
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu) rs143479220
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) rs772385411
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
NM_005269.3(GLI1):c.820G>C (p.Gly274Arg) rs563340967
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) rs864309476
NM_005419.4(STAT2):c.1034G>A (p.Arg345Lys)
NM_005419.4(STAT2):c.34A>G (p.Ser12Gly) rs1565660719
NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser)
NM_005422.4(TECTA):c.140C>G (p.Ser47Cys)
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu) rs760011660
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe) rs2135078204
NM_005422.4(TECTA):c.1779C>T (p.Ser593=)
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) rs762612501
NM_005422.4(TECTA):c.1905G>T (p.Gln635His) rs775145892
NM_005422.4(TECTA):c.2012G>A (p.Cys671Tyr) rs2135081400
NM_005422.4(TECTA):c.2101G>A (p.Gly701Ser)
NM_005422.4(TECTA):c.2175C>T (p.Asp725=) rs865971914
NM_005422.4(TECTA):c.2179G>C (p.Ala727Pro) rs759694570
NM_005422.4(TECTA):c.2222A>G (p.Lys741Arg) rs1946634411
NM_005422.4(TECTA):c.2367+6G>T rs555970010
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys) rs1374232396
NM_005422.4(TECTA):c.286G>C (p.Val96Leu)
NM_005422.4(TECTA):c.2889C>A (p.Ala963=) rs1946659418
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) rs199688655
NM_005422.4(TECTA):c.3132A>C (p.Gln1044His) rs886047839
NM_005422.4(TECTA):c.3156G>T (p.Trp1052Cys)
NM_005422.4(TECTA):c.3558G>T (p.Arg1186=) rs766364285
NM_005422.4(TECTA):c.3575A>C (p.Lys1192Thr) rs777712974
NM_005422.4(TECTA):c.36T>G (p.Ser12=) rs2135046516
NM_005422.4(TECTA):c.3760A>G (p.Met1254Val) rs886047841
NM_005422.4(TECTA):c.377C>T (p.Thr126Ile) rs1378716572
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_005422.4(TECTA):c.4061C>G (p.Thr1354Ser) rs148440178
NM_005422.4(TECTA):c.4402G>T (p.Glu1468Ter) rs1565532833
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu) rs374996667
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.4901T>C (p.Val1634Ala) rs1367267771
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg) rs201375747
NM_005422.4(TECTA):c.493A>T (p.Thr165Ser)
NM_005422.4(TECTA):c.528T>C (p.Tyr176=) rs747324937
NM_005422.4(TECTA):c.533T>G (p.Phe178Cys) rs886047835
NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met) rs544020042
NM_005422.4(TECTA):c.5515G>A (p.Gly1839Ser)
NM_005422.4(TECTA):c.5577C>T (p.Asn1859=) rs370609249
NM_005422.4(TECTA):c.5583G>T (p.Val1861=) rs753786546
NM_005422.4(TECTA):c.5587-15C>G rs886047845
NM_005422.4(TECTA):c.5741C>G (p.Pro1914Arg)
NM_005422.4(TECTA):c.5770C>A (p.Pro1924Thr) rs886047846
NM_005422.4(TECTA):c.5829A>G (p.Lys1943=) rs879251219
NM_005422.4(TECTA):c.588C>T (p.Gly196=) rs886047836
NM_005422.4(TECTA):c.6150C>T (p.Tyr2050=) rs374455045
NM_005422.4(TECTA):c.761T>C (p.Ile254Thr) rs1946467660
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_005522.4(HOXA1):c.-89T>C rs1783820241
NM_005522.5(HOXA1):c.*1058T>A rs1311098639
NM_005522.5(HOXA1):c.*183G>A rs186304469
NM_005522.5(HOXA1):c.*183G>C rs186304469
NM_005522.5(HOXA1):c.*232G>A rs1783762321
NM_005522.5(HOXA1):c.*281C>G rs1783761584
NM_005522.5(HOXA1):c.*820A>G rs1336175696
NM_005522.5(HOXA1):c.-26C>A rs764712990
NM_005522.5(HOXA1):c.-86C>A rs964954049
NM_005522.5(HOXA1):c.122C>T (p.Ala41Val) rs1783812000
NM_005522.5(HOXA1):c.165G>A (p.Val55=) rs886062261
NM_005522.5(HOXA1):c.255C>G (p.Asn85Lys) rs886062259
NM_005522.5(HOXA1):c.294C>G (p.Ser98Arg) rs377149193
NM_005522.5(HOXA1):c.63G>A (p.Gly21=) rs1331715096
NM_005522.5(HOXA1):c.653-12A>G rs761281990
NM_005522.5(HOXA1):c.71C>T (p.Ser24Leu) rs886062262
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys) rs570850437
NM_005529.7(HSPG2):c.1012G>A (p.Ala338Thr) rs1641972004
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.10409G>A (p.Gly3470Glu) rs2152698051
NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile) rs372760688
NM_005529.7(HSPG2):c.10722dup (p.Pro3576fs) rs2152695644
NM_005529.7(HSPG2):c.10969C>A (p.Gln3657Lys) rs2098013447
NM_005529.7(HSPG2):c.11187G>A (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11353-13C>T rs765268891
NM_005529.7(HSPG2):c.11563-16G>A
NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp) rs138145234
NM_005529.7(HSPG2):c.1175G>A (p.Ser392Asn) rs1217699227
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn) rs1553171928
NM_005529.7(HSPG2):c.11946G>A (p.Leu3982=) rs2097992012
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.12143T>C (p.Leu4048Pro) rs1368598061
NM_005529.7(HSPG2):c.12533-15T>C rs2097983783
NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser) rs769986876
NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=) rs1323835816
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser) rs767431377
NM_005529.7(HSPG2):c.1376G>T (p.Gly459Val) rs886046044
NM_005529.7(HSPG2):c.1601G>A (p.Arg534His) rs138259006
NM_005529.7(HSPG2):c.1654+15G>A rs886046043
NM_005529.7(HSPG2):c.1707G>A (p.Thr569=) rs151214695
NM_005529.7(HSPG2):c.1870C>T (p.Arg624Cys) rs779022485
NM_005529.7(HSPG2):c.199+14C>T rs886046047
NM_005529.7(HSPG2):c.1A>G (p.Met1Val) rs2152809610
NM_005529.7(HSPG2):c.212G>A (p.Ser71Asn) rs781177979
NM_005529.7(HSPG2):c.2251C>T (p.Arg751Trp) rs192500073
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2860A>G (p.Ser954Gly) rs1641064668
NM_005529.7(HSPG2):c.2951T>A (p.Leu984His) rs776853465
NM_005529.7(HSPG2):c.3131C>T (p.Ala1044Val) rs886046040
NM_005529.7(HSPG2):c.3132C>G (p.Ala1044=) rs759433713
NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser) rs544172715
NM_005529.7(HSPG2):c.3183+8A>G rs886046039
NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=) rs886046038
NM_005529.7(HSPG2):c.3302+15G>T rs376065244
NM_005529.7(HSPG2):c.3436C>T (p.Arg1146Cys) rs886046037
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=) rs886046036
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.4129C>T (p.Pro1377Ser)
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
NM_005529.7(HSPG2):c.4314+4A>T rs1553166653
NM_005529.7(HSPG2):c.4406G>A (p.Arg1469His) rs373234129
NM_005529.7(HSPG2):c.4638C>T (p.Pro1546=) rs777118903
NM_005529.7(HSPG2):c.467C>T (p.Ala156Val) rs771803144
NM_005529.7(HSPG2):c.4868+10C>G rs886046035
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) rs745892835
NM_005529.7(HSPG2):c.5686A>C (p.Thr1896Pro) rs1192648239
NM_005529.7(HSPG2):c.5701+9G>A rs549778143
NM_005529.7(HSPG2):c.5747G>A (p.Gly1916Asp) rs868030362
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) rs147669915
NM_005529.7(HSPG2):c.6029T>C (p.Leu2010Pro) rs886046034
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6307C>A (p.Arg2103=) rs755167311
NM_005529.7(HSPG2):c.6487G>T (p.Val2163Leu) rs777503522
NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met) rs777069767
NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro) rs1401615464
NM_005529.7(HSPG2):c.6640G>A (p.Gly2214Ser) rs1639002819
NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=) rs565594406
NM_005529.7(HSPG2):c.7159-9T>A rs886046032
NM_005529.7(HSPG2):c.7294+9C>A rs886046031
NM_005529.7(HSPG2):c.7347C>G (p.Ala2449=) rs765923626
NM_005529.7(HSPG2):c.7411C>T (p.His2471Tyr) rs886046030
NM_005529.7(HSPG2):c.7559T>C (p.Ile2520Thr) rs900344590
NM_005529.7(HSPG2):c.7684C>T (p.Pro2562Ser) rs755215244
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8026-10G>A rs377601366
NM_005529.7(HSPG2):c.8055A>G (p.Gln2685=) rs377715367
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=) rs140067347
NM_005529.7(HSPG2):c.8224G>A (p.Glu2742Lys) rs886046029
NM_005529.7(HSPG2):c.828T>G (p.Leu276=) rs1642001864
NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=) rs377366418
NM_005529.7(HSPG2):c.8458G>A (p.Val2820Ile) rs771648867
NM_005529.7(HSPG2):c.8514G>A (p.Val2838=) rs886046028
NM_005529.7(HSPG2):c.8609G>C (p.Arg2870Pro) rs111846397
NM_005529.7(HSPG2):c.8616+9G>C rs189754659
NM_005529.7(HSPG2):c.8971T>G (p.Cys2991Gly) rs745575586
NM_005529.7(HSPG2):c.9041G>T (p.Gly3014Val) rs1230028155
NM_005529.7(HSPG2):c.9300C>T (p.Ala3100=) rs2098048599
NM_005529.7(HSPG2):c.960C>T (p.Gly320=) rs886046046
NM_005529.7(HSPG2):c.9826T>C (p.Tyr3276His)
NM_005529.7(HSPG2):c.9890-7C>A rs377609659
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup) rs1345312289
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp) rs1260261553
NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln) rs2151801345
NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala) rs1555512658
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln) rs761347066
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005708.5(GPC6):c.*1032C>T rs1187061045
NM_005708.5(GPC6):c.*1225C>G rs886050354
NM_005708.5(GPC6):c.*1457C>G rs1881296953
NM_005708.5(GPC6):c.*1473T>C rs886050355
NM_005708.5(GPC6):c.*1693C>A rs954752088
NM_005708.5(GPC6):c.*2212T>C rs573838514
NM_005708.5(GPC6):c.*2240G>A rs559244686
NM_005708.5(GPC6):c.*2299A>G rs886050358
NM_005708.5(GPC6):c.*2582C>G rs971165085
NM_005708.5(GPC6):c.*2646T>G rs1049854240
NM_005708.5(GPC6):c.*2791G>T rs376359118
NM_005708.5(GPC6):c.*3031G>A rs1881361098
NM_005708.5(GPC6):c.*3308G>A rs550634156
NM_005708.5(GPC6):c.*3439T>C rs886050361
NM_005708.5(GPC6):c.*3869A>G rs886050364
NM_005708.5(GPC6):c.*4239A>G rs886050365
NM_005708.5(GPC6):c.*4424T>G rs959917191
NM_005708.5(GPC6):c.*734C>A rs1594246444
NM_005708.5(GPC6):c.-113G>A rs1875825383
NM_005708.5(GPC6):c.-23G>T rs574131434
NM_005708.5(GPC6):c.-248G>A rs1195618642
NM_005708.5(GPC6):c.1137A>C (p.Thr379=) rs747340600
NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)
NM_005708.5(GPC6):c.1289+13C>T rs769274919
NM_005708.5(GPC6):c.141C>T (p.Ile47=) rs773995249
NM_005708.5(GPC6):c.1570C>T (p.Arg524Trp) rs147610049
NM_005708.5(GPC6):c.161-4G>T rs886050349
NM_005708.5(GPC6):c.284G>A (p.Arg95His) rs1296709144
NM_005708.5(GPC6):c.711+7G>A rs201788495
NM_005709.4(USH1C):c.1218G>T (p.Gln406His) rs928672021
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala) rs143923730
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg) rs746527367
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn) rs1657192119
NM_005861.4(STUB1):c.346A>G (p.Asn116Asp) rs1456416134
NM_005861.4(STUB1):c.391T>C (p.Phe131Leu) rs2151504534
NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)
NM_005861.4(STUB1):c.612+4_612+46del rs2151505435
NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu) rs2132330402
NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys) rs867727095
NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) rs779459049
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu) rs2132329730
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) rs1382890194
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) rs1820911034
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) rs768933234
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) rs768933234
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) rs1820909011
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys) rs1234992727
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)
NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) rs200076129
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala) rs2132324643
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp) rs1820834441
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) rs1820832825
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del) rs2132324233
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) rs777650644
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) rs777650644
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu) rs1406092949
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) rs1820825348
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) rs1396152845
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs) rs752243393
NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His) rs764002616
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) rs1564096623
NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro) rs1820931363
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys) rs587777672
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu) rs2125558050
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn) rs534715710
NM_005879.3(TRAIP):c.868C>A (p.Arg290Ser)
NM_005879.3(TRAIP):c.989C>T (p.Ser330Phe)
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly) rs199838222
NM_005881.4(BCKDK):c.117C>G (p.His39Gln)
NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu) rs1596808163
NM_005881.4(BCKDK):c.196-8del rs1596808347
NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser) rs764651763
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr) rs746459006
NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg) rs1414828775
NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)
NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn) rs2057399952
NM_005881.4(BCKDK):c.544-8C>G rs1337089151
NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu) rs2057409516
NM_005881.4(BCKDK):c.846-3T>A rs118042732
NM_005881.4(BCKDK):c.846-3T>C rs118042732
NM_005883.3(APC2):c.2595C>A (p.His865Gln) rs2145233148
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro) rs367655515
NM_005883.3(APC2):c.5772G>C (p.Gln1924His) rs2084082995
NM_005883.3(APC2):c.583C>T (p.Arg195Cys) rs1158412843
NM_005883.3(APC2):c.6111C>T (p.Phe2037=) rs1405418055
NM_005883.3(APC2):c.757C>T (p.Pro253Ser) rs555858661
NM_005883.3(APC2):c.796C>A (p.Pro266Thr) rs146579468
NM_005888.3(SLC25A3):c.-120G>C rs774325459
NM_005888.3(SLC25A3):c.-61G>T rs886049918
NM_005982.4(SIX1):c.*1001T>C rs886050568
NM_005982.4(SIX1):c.*140C>T rs1348429370
NM_005982.4(SIX1):c.*688C>T rs1266809909
NM_005982.4(SIX1):c.*858C>T rs1894921331
NM_005982.4(SIX1):c.-213C>G rs771815597
NM_005982.4(SIX1):c.-213C>T rs771815597
NM_005982.4(SIX1):c.-84C>G rs886050572
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) rs1431824329
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)
NM_005982.4(SIX1):c.356G>A (p.Arg119His)
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
NM_005982.4(SIX1):c.3G>C (p.Met1Ile)
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) rs2140241105
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)
NM_005982.4(SIX1):c.446del (p.Pro149fs)
NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)
NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)
NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)
NM_005982.4(SIX1):c.495C>T (p.Thr165=) rs1181935324
NM_005982.4(SIX1):c.501G>C (p.Gln167His) rs2140241012
NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)
NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) rs2140240984
NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)
NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)
NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.816dup (p.Gly273fs)
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)
NM_005982.4(SIX1):c.84G>C (p.Glu28Asp)
NM_006005.3(WFS1):c.*260G>C rs71530909
NM_006005.3(WFS1):c.*526A>C rs886059537
NM_006005.3(WFS1):c.*553G>A rs904935032
NM_006005.3(WFS1):c.-100C>G rs886059524
NM_006005.3(WFS1):c.-43G>C rs1578579501
NM_006005.3(WFS1):c.-55C>G rs886059525
NM_006005.3(WFS1):c.-93G>C rs1729749153
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) rs2109125284
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) rs886059528
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) rs775342800
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) rs749886570
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) rs749886570
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) rs147974629
NM_006005.3(WFS1):c.1311C>T (p.Gly437=) rs886059529
NM_006005.3(WFS1):c.132C>T (p.Pro44=) rs754346893
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) rs139361521
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1509C>T (p.Val503=) rs1267751619
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) rs1801211
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) rs377677092
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) rs886059530
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) rs780471127
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) rs757027394
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val) rs1730936563
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) rs1730943627
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) rs71526459
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) rs755328574
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) rs886059531
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys) rs71578980
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) rs141669724
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) rs773643250
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) rs754802246
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) rs3821945
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) rs759360634
NM_006005.3(WFS1):c.445T>C (p.Leu149=) rs1730394064
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.837T>C (p.Pro279=) rs762770133
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) rs1730845682
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006014.5(LAGE3):c.184A>G (p.Ile62Val)
NM_006014.5(LAGE3):c.189-2A>G
NM_006014.5(LAGE3):c.262C>T (p.Pro88Ser)
NM_006014.5(LAGE3):c.2T>G (p.Met1Arg)
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val) rs1855355458
NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=) rs1855355458
NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu) rs2134445007
NM_006019.4(TCIRG1):c.1083C>G (p.Leu361=) rs532106336
NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr) rs913332283
NM_006019.4(TCIRG1):c.1119C>T (p.Gly373=) rs759279602
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys) rs2134445416
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_006019.4(TCIRG1):c.1511T>A (p.Val504Asp) rs1855591352
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg) rs868702370
NM_006019.4(TCIRG1):c.1555-12C>T rs886048598
NM_006019.4(TCIRG1):c.1602G>A (p.Lys534=) rs1855645512
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006019.4(TCIRG1):c.1674-9del rs1855654196
NM_006019.4(TCIRG1):c.1680T>C (p.Phe560=) rs1855655326
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu) rs150648332
NM_006019.4(TCIRG1):c.172T>C (p.Cys58Arg) rs1855184602
NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln) rs768203698
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del) rs1425479122
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del) rs1554999148
NM_006019.4(TCIRG1):c.1853A>G (p.His618Arg) rs886048599
NM_006019.4(TCIRG1):c.1887+130C>T rs928213157
NM_006019.4(TCIRG1):c.1887+3G>C
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup) rs757802200
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup) rs1554999610
NM_006019.4(TCIRG1):c.1978C>G (p.Arg660Gly) rs528045019
NM_006019.4(TCIRG1):c.1979G>A (p.Arg660His) rs746874956
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.197C>T (p.Thr66Ile) rs886048593
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=) rs771368616
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2293G>A (p.Glu765Lys) rs1855752104
NM_006019.4(TCIRG1):c.2301C>T (p.Gly767=) rs768701072
NM_006019.4(TCIRG1):c.2392C>T (p.Leu798=) rs1855760265
NM_006019.4(TCIRG1):c.2408_2410dup (p.Leu803dup) rs2134466694
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT
NM_006019.4(TCIRG1):c.243G>T (p.Pro81=) rs756073508
NM_006019.4(TCIRG1):c.2443G>C (p.Gly815Arg)
NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=) rs139049989
NM_006019.4(TCIRG1):c.2475C>A (p.Phe825Leu) rs886048602
NM_006019.4(TCIRG1):c.261G>A (p.Pro87=) rs887998539
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln) rs908094911
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro) rs775326246
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.624C>G (p.Pro208=) rs779281265
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser) rs748465503
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.934A>G (p.Ser312Gly) rs1855349604
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal) rs779622577
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)
NM_006019.4(TCIRG1):c.961G>C (p.Glu321Gln) rs372690969
NM_006019.4(TCIRG1):c.979C>A (p.Arg327=) rs749361897
NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)
NM_006118.3(HAX1):c.-150A>T rs544123058
NM_006118.4(HAX1):c.*1C>G rs747961567
NM_006118.4(HAX1):c.*80C>T rs912619566
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup) rs755700193
NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)
NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala) rs1220347048
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp) rs1001600867
NM_006118.4(HAX1):c.135_137del (p.Arg46del) rs746771318
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro) rs761500862
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser) rs1260994720
NM_006118.4(HAX1):c.182T>C (p.Phe61Ser) rs146452018
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)
NM_006118.4(HAX1):c.191G>A (p.Gly64Asp) rs1684865731
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del) rs1558251515
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser) rs1684869052
NM_006118.4(HAX1):c.316+4T>G
NM_006118.4(HAX1):c.317-9T>A rs1684873624
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
NM_006118.4(HAX1):c.371C>A (p.Thr124Lys) rs1684875501
NM_006118.4(HAX1):c.377G>A (p.Arg126Gln) rs147036748
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg) rs1001874105
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser) rs1684878785
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu) rs1310502848
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys) rs1392118289
NM_006118.4(HAX1):c.521C>A (p.Pro174His) rs1257711613
NM_006118.4(HAX1):c.521C>G (p.Pro174Arg) rs1257711613
NM_006118.4(HAX1):c.54-9del rs2149139460
NM_006118.4(HAX1):c.556+5G>A
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln) rs2149140605
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis) rs2149139500
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp) rs1684906279
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.659A>T (p.Asp220Val) rs1684907371
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr) rs753448581
NM_006118.4(HAX1):c.677G>A (p.Arg226His) rs750920845
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
NM_006118.4(HAX1):c.781C>G (p.Leu261Val) rs2149140834
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe) rs1684917433
NM_006118.4(HAX1):c.800del (p.Ile267fs)
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys) rs753078666
NM_006118.4(HAX1):c.93_95del (p.Glu31del) rs773579418
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del) rs560912060
NM_006185.4(NUMA1):c.-103+12G>A rs1944076918
NM_006185.4(NUMA1):c.-103+67G>A rs535003776
NM_006185.4(NUMA1):c.-127A>C rs990462302
NM_006185.4(NUMA1):c.-149G>C rs918454674
NM_006208.3(ENPP1):c.*103A>G rs934807026
NM_006208.3(ENPP1):c.*1290T>A rs886061073
NM_006208.3(ENPP1):c.*1618A>G rs1782479055
NM_006208.3(ENPP1):c.*1864T>C rs1782482761
NM_006208.3(ENPP1):c.*2073C>G rs541153028
NM_006208.3(ENPP1):c.*2129T>C rs886061075
NM_006208.3(ENPP1):c.*2543T>G rs1782491483
NM_006208.3(ENPP1):c.*3600G>T rs573224206
NM_006208.3(ENPP1):c.*38G>A rs191654371
NM_006208.3(ENPP1):c.*392G>A rs1782461266
NM_006208.3(ENPP1):c.*4014C>A rs774267525
NM_006208.3(ENPP1):c.*4287G>A rs1782525012
NM_006208.3(ENPP1):c.*4507A>G rs1017283996
NM_006208.3(ENPP1):c.*4620G>T rs1782530336
NM_006208.3(ENPP1):c.*516T>C rs1782462977
NM_006208.3(ENPP1):c.*577G>A rs891388334
NM_006208.3(ENPP1):c.*772A>G rs34608785
NM_006208.3(ENPP1):c.*848T>C rs1782467588
NM_006208.3(ENPP1):c.*902G>A rs572823916
NM_006208.3(ENPP1):c.10G>A (p.Asp4Asn) rs941474086
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.165G>A (p.Val55=) rs768034745
NM_006208.3(ENPP1):c.1724-5T>G rs369585711
NM_006208.3(ENPP1):c.1946-14T>C rs886061067
NM_006208.3(ENPP1):c.2191A>T (p.Asn731Tyr) rs748292010
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.2444+10T>C rs947631280
NM_006208.3(ENPP1):c.332G>A (p.Arg111His) rs749866787
NM_006208.3(ENPP1):c.601C>T (p.Pro201Ser) rs752171315
NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp) rs1022223760
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) rs1554519422
NM_006279.5(ST3GAL3):c.118+39G>T rs766784665
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) rs777476390
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu) rs199819065
NM_006383.4(CIB2):c.47A>G (p.Tyr16Cys)
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
NM_006397.3(RNASEH2A):c.*69G>A rs969808573
NM_006397.3(RNASEH2A):c.*93A>G rs528209678
NM_006397.3(RNASEH2A):c.-69G>A rs1968991813
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys) rs2145824177
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His) rs1968997110
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu) rs2145824200
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg) rs1792077195
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg) rs1252576410
NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val) rs755133697
NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe) rs2145824522
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val) rs771789854
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys) rs1969003412
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu) rs761841313
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.181_189del (p.Glu61_Leu63del) rs1969003682
NM_006397.3(RNASEH2A):c.196G>T (p.Ala66Ser) rs2145824584
NM_006397.3(RNASEH2A):c.199+12G>T
NM_006397.3(RNASEH2A):c.199+9G>T
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.217G>A (p.Glu73Lys)
NM_006397.3(RNASEH2A):c.219G>C (p.Glu73Asp) rs754532258
NM_006397.3(RNASEH2A):c.222C>A (p.Ser74Arg)
NM_006397.3(RNASEH2A):c.226C>T (p.Arg76Trp) rs1969006970
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln) rs747608935
NM_006397.3(RNASEH2A):c.242C>G (p.Ala81Gly)
NM_006397.3(RNASEH2A):c.247A>G (p.Met83Val)
NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)
NM_006397.3(RNASEH2A):c.261C>G (p.Asp87Glu) rs776835503
NM_006397.3(RNASEH2A):c.268G>A (p.Gly90Ser) rs773318256
NM_006397.3(RNASEH2A):c.268G>T (p.Gly90Cys)
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly) rs76436818
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln) rs1232764867
NM_006397.3(RNASEH2A):c.323G>C (p.Arg108Pro)
NM_006397.3(RNASEH2A):c.325G>A (p.Val109Ile)
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met) rs1969010870
NM_006397.3(RNASEH2A):c.359C>T (p.Thr120Ile)
NM_006397.3(RNASEH2A):c.373A>C (p.Ile125Leu) rs1969011556
NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu) rs1289383180
NM_006397.3(RNASEH2A):c.393G>C (p.Gln131His) rs2145825149
NM_006397.3(RNASEH2A):c.397G>A (p.Val133Met) rs1969012072
NM_006397.3(RNASEH2A):c.411+14A>G
NM_006397.3(RNASEH2A):c.412G>A (p.Val138Ile)
NM_006397.3(RNASEH2A):c.417C>A (p.Phe139Leu) rs201413125
NM_006397.3(RNASEH2A):c.418G>A (p.Val140Met)
NM_006397.3(RNASEH2A):c.422A>G (p.Asp141Gly) rs967836212
NM_006397.3(RNASEH2A):c.441G>T (p.Glu147Asp) rs772640456
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His) rs1968995083
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys) rs1262482666
NM_006397.3(RNASEH2A):c.523G>A (p.Val175Ile)
NM_006397.3(RNASEH2A):c.528T>A (p.Ser176Arg) rs1419883149
NM_006397.3(RNASEH2A):c.530C>T (p.Ala177Val) rs2145827698
NM_006397.3(RNASEH2A):c.539T>A (p.Ile180Asn)
NM_006397.3(RNASEH2A):c.549+4A>G
NM_006397.3(RNASEH2A):c.550-13G>A rs560268310
NM_006397.3(RNASEH2A):c.566C>A (p.Ala189Asp) rs1448707577
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala) rs1969055468
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) rs748699424
NM_006397.3(RNASEH2A):c.586G>A (p.Val196Met)
NM_006397.3(RNASEH2A):c.592A>G (p.Lys198Glu) rs2145827897
NM_006397.3(RNASEH2A):c.611C>A (p.Thr204Asn)
NM_006397.3(RNASEH2A):c.611C>T (p.Thr204Ile)
NM_006397.3(RNASEH2A):c.613G>T (p.Asp205Tyr) rs965949988
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro) rs2145827947
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg) rs1568387884
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser) rs377244188
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.636T>C (p.Asn212=) rs2145827969
NM_006397.3(RNASEH2A):c.637+12C>G
NM_006397.3(RNASEH2A):c.637+3G>A rs1399243066
NM_006397.3(RNASEH2A):c.665A>T (p.Glu222Val)
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) rs1321788478
NM_006397.3(RNASEH2A):c.701T>G (p.Val234Gly)
NM_006397.3(RNASEH2A):c.705del (p.Phe236fs)
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006397.3(RNASEH2A):c.749A>C (p.Glu250Ala) rs1157218789
NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His) rs955631391
NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu) rs955631391
NM_006397.3(RNASEH2A):c.757A>G (p.Ile253Val)
NM_006397.3(RNASEH2A):c.759A>G (p.Ile253Met)
NM_006397.3(RNASEH2A):c.762-14C>G rs1297237306
NM_006397.3(RNASEH2A):c.764A>C (p.Glu255Ala)
NM_006397.3(RNASEH2A):c.773C>T (p.Ala258Val)
NM_006397.3(RNASEH2A):c.791G>A (p.Gly264Glu)
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
NM_006397.3(RNASEH2A):c.833A>C (p.Gln278Pro)
NM_006397.3(RNASEH2A):c.836C>G (p.Ala279Gly) rs2145830509
NM_006397.3(RNASEH2A):c.838C>A (p.Arg280Ser)
NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006397.3(RNASEH2A):c.848C>G (p.Ser283Cys)
NM_006397.3(RNASEH2A):c.854A>C (p.His285Pro)
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_006397.3(RNASEH2A):c.856C>T (p.Arg286Ter) rs1286615636
NM_006397.3(RNASEH2A):c.857G>T (p.Arg286Leu)
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs) rs1969104623
NM_006397.3(RNASEH2A):c.869A>T (p.Glu290Val) rs1425963270
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu) rs75037667
NM_006397.3(RNASEH2A):c.874G>C (p.Gly292Arg)
NM_006397.3(RNASEH2A):c.881A>G (p.Glu294Gly) rs2145830589
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr) rs1438193575
NM_006397.3(RNASEH2A):c.884C>T (p.Ser295Leu) rs1969105528
NM_006397.3(RNASEH2A):c.886G>A (p.Ala296Thr) rs1243574081
NM_006397.3(RNASEH2A):c.889A>G (p.Thr297Ala) rs775006544
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)
NM_006432.4(NPC2):c.-68G>T rs578161135
NM_006432.5(NPC2):c.100A>G (p.Ile34Val)
NM_006432.5(NPC2):c.12G>A (p.Leu4=) rs2139676633
NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)
NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu) rs750426509
NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)
NM_006432.5(NPC2):c.217G>A (p.Val73Met)
NM_006432.5(NPC2):c.232C>G (p.Leu78Val)
NM_006432.5(NPC2):c.241G>A (p.Val81Ile)
NM_006432.5(NPC2):c.259A>T (p.Ile87Phe)
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser) rs2139668049
NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)
NM_006432.5(NPC2):c.303C>G (p.Ile101Met)
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)
NM_006432.5(NPC2):c.351C>T (p.Ser117=) rs1183033999
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys) rs80358266
NM_006432.5(NPC2):c.373G>T (p.Val125Leu)
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp) rs1412520435
NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)
NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006432.5(NPC2):c.437A>G (p.Gln146Arg) rs2139664443
NM_006432.5(NPC2):c.442-1G>A rs1555345562
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) rs2086642019
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)
NM_006432.5(NPC2):c.82+6C>T rs1450006465
NM_006432.5(NPC2):c.94G>A (p.Gly32Arg)
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser) rs1295611134
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser) rs1656013992
NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)
NM_006618.5(KDM5B):c.1795G>T (p.Ala599Ser)
NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu) rs1244407080
NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)
NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val) rs1655336497
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro) rs748231291
NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)
NM_006618.5(KDM5B):c.3085-4T>G
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)
NM_006618.5(KDM5B):c.469A>T (p.Thr157Ser)
NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile) rs760942783
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
NM_006642.5(SDCCAG8):c.1069-3C>T
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met) rs1471866292
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys)
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly) rs2074516888
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn) rs2149349477
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=) rs778405068
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
NM_006642.5(SDCCAG8):c.1221+4C>G
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala) rs2067972241
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile) rs370072966
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe) rs370072966
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly) rs1364309751
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg) rs1015302300
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His) rs2067972892
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys) rs1250974056
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg) rs2147791053
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr) rs775752533
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys) rs2075566223
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly) rs2147791136
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val) rs1558382581
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe) rs2067973932
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys) rs999154575
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg) rs1032332223
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser) rs2080530513
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=) rs2080533501
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg) rs2067975157
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln) rs1201744229
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val) rs766677544
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn) rs2148018533
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val) rs2148018705
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met) rs548855151
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His) rs2148043381
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn) rs1262692904
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg)
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys) rs2081354187
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis) rs2148266803
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr) rs2148267056
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp) rs369591883
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln) rs2148267381
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
NM_006642.5(SDCCAG8):c.2112+2T>C
NM_006642.5(SDCCAG8):c.2113-1G>T
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile) rs1669058410
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713dup) rs1268199421
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro) rs1193390013
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser) rs143447584
NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser) rs1284369812
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del) rs751190536
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser)
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln) rs773442925
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro) rs2149268706
NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe) rs773522256
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.420+5G>A
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val) rs371179612
NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe) rs1453249734
NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His) rs1398602761
NM_006642.5(SDCCAG8):c.547-3T>C
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala) rs750128305
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe) rs1182767716
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser) rs2149295739
NM_006642.5(SDCCAG8):c.675+5G>C rs968117633
NM_006642.5(SDCCAG8):c.676-3T>C
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro) rs776422346
NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly) rs2067967236
NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr)
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu) rs2149319564
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro) rs2072330865
NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly) rs1179385721
NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter) rs1558269718
NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val)
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn) rs2149262996
NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser) rs2072347543
NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro) rs2073277628
NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val)
NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup) rs1365929568
NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val) rs2149331580
NM_006721.4(ADK):c.*157G>A rs886047237
NM_006721.4(ADK):c.374T>C (p.Val125Ala)
NM_006721.4(ADK):c.441C>T (p.Asp147=) rs886047236
NM_006721.4(ADK):c.494A>C (p.Lys165Thr) rs1219524919
NM_006721.4(ADK):c.66-23967G>T rs1842356778
NM_006721.4(ADK):c.66-24083G>C rs886047233
NM_006721.4(ADK):c.66-24133G>A rs1036870011
NM_006721.4(ADK):c.66-24151A>T rs886047232
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)
NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys) rs1322194084
NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val) rs1165402332
NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr) rs746079387
NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del) rs749724691
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) rs140172586
NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly) rs140172586
NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys) rs140172586
NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile) rs1951908601
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln) rs576205050
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)
NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys) rs1951909330
NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly) rs1233939998
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu) rs1349202271
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala) rs1951918459
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del) rs916480780
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro) rs1223035732
NM_006736.6(DNAJB2):c.446-3C>T rs1951921657
NM_006736.6(DNAJB2):c.449T>C (p.Phe150Ser) rs1951921696
NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro) rs1951921760
NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg) rs1951922090
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)
NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr) rs2125081450
NM_006736.6(DNAJB2):c.509C>T (p.Ser170Phe) rs1951922399
NM_006736.6(DNAJB2):c.520G>T (p.Val174Phe) rs2125082980
NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg) rs1559286796
NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys) rs1415279774
NM_006736.6(DNAJB2):c.538A>G (p.Thr180Ala) rs1317732158
NM_006736.6(DNAJB2):c.548+4A>G
NM_006736.6(DNAJB2):c.548+5G>A rs1951923213
NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile) rs1574901375
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)
NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln) rs2125083127
NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)
NM_006736.6(DNAJB2):c.625C>T (p.Pro209Ser) rs769946182
NM_006736.6(DNAJB2):c.638_649dup (p.Ala213_Leu216dup) rs1016678138
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)
NM_006736.6(DNAJB2):c.65+12C>T
NM_006736.6(DNAJB2):c.65+5G>T
NM_006736.6(DNAJB2):c.658C>A (p.Arg220Ser) rs373611775
NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu) rs1357690630
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys) rs1951895139
NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp) rs370819068
NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln) rs780839621
NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser) rs749436734
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly) rs2125083744
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His) rs1403156116
NM_006736.6(DNAJB2):c.775A>G (p.Met259Val) rs769533786
NM_006736.6(DNAJB2):c.805G>A (p.Ala269Thr) rs762419182
NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr)
NM_006736.6(DNAJB2):c.825T>A (p.Gly275=) rs1574902248
NM_006736.6(DNAJB2):c.827G>A (p.Gly276Glu) rs753991111
NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp) rs755166275
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)
NM_006739.4(MCM5):c.830C>A (p.Thr277Asn) rs956123297
NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)
NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln) rs2129132447
NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)
NM_006765.4(TUSC3):c.670T>G (p.Phe224Val) rs1807455847
NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)
NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)
NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)
NM_006793.5(PRDX3):c.451G>A (p.Gly151Ser)
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_006796.3(AFG3L2):c.1501G>A (p.Glu501Lys) rs1908302608
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)
NM_006796.3(AFG3L2):c.361A>C (p.Lys121Gln)
NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr) rs1909186789
NM_006828.4(ASCC3):c.1597-2A>G
NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006846.4(SPINK5):c.1028A>G (p.Glu343Gly) rs745601984
NM_006846.4(SPINK5):c.1032G>T (p.Lys344Asn) rs771934297
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro) rs1336825417
NM_006846.4(SPINK5):c.1049G>A (p.Arg350Gln)
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg) rs1451813366
NM_006846.4(SPINK5):c.1082C>T (p.Thr361Ile) rs1193041573
NM_006846.4(SPINK5):c.1093-5G>A
NM_006846.4(SPINK5):c.1093G>C (p.Glu365Gln) rs2113116400
NM_006846.4(SPINK5):c.1128C>A (p.Asn376Lys) rs78128189
NM_006846.4(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.4(SPINK5):c.1145C>T (p.Thr382Ile)
NM_006846.4(SPINK5):c.115A>G (p.Asn39Asp)
NM_006846.4(SPINK5):c.1178G>A (p.Gly393Glu) rs2113116860
NM_006846.4(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_006846.4(SPINK5):c.1196C>T (p.Thr399Ile) rs1420281681
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr) rs1753612608
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del) rs2113117124
NM_006846.4(SPINK5):c.1221-5T>C rs1753636699
NM_006846.4(SPINK5):c.1232A>C (p.Glu411Ala) rs1561689256
NM_006846.4(SPINK5):c.1239_1241del (p.Lys417del)
NM_006846.4(SPINK5):c.1271A>G (p.Lys424Arg) rs1753639021
NM_006846.4(SPINK5):c.1298T>G (p.Phe433Cys)
NM_006846.4(SPINK5):c.1302+5G>A
NM_006846.4(SPINK5):c.1321C>T (p.Arg441Cys)
NM_006846.4(SPINK5):c.1322G>T (p.Arg441Leu)
NM_006846.4(SPINK5):c.133C>T (p.Pro45Ser)
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile) rs1431744993
NM_006846.4(SPINK5):c.1348T>C (p.Phe450Leu)
NM_006846.4(SPINK5):c.1366G>T (p.Asp456Tyr) rs757370601
NM_006846.4(SPINK5):c.1372A>G (p.Ile458Val)
NM_006846.4(SPINK5):c.1373T>C (p.Ile458Thr) rs1581082573
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn) rs1266893770
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu) rs772479299
NM_006846.4(SPINK5):c.1414A>T (p.Met472Leu)
NM_006846.4(SPINK5):c.1437A>T (p.Gln479His)
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del) rs1295633163
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp) rs201611101
NM_006846.4(SPINK5):c.1522C>G (p.Leu508Val) rs2113140907
NM_006846.4(SPINK5):c.1538A>T (p.Glu513Val)
NM_006846.4(SPINK5):c.1539G>C (p.Glu513Asp)
NM_006846.4(SPINK5):c.1546C>T (p.Pro516Ser) rs1248047998
NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg) rs758158334
NM_006846.4(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.4(SPINK5):c.1617AGA[4] (p.Glu542dup) rs771646677
NM_006846.4(SPINK5):c.1621G>C (p.Glu541Gln)
NM_006846.4(SPINK5):c.1642GAA[1] (p.Glu549del) rs2113146866
NM_006846.4(SPINK5):c.1645G>C (p.Glu549Gln)
NM_006846.4(SPINK5):c.1652G>A (p.Gly551Glu)
NM_006846.4(SPINK5):c.1658_1659delinsCT (p.Val553Ala) rs2113146992
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006846.4(SPINK5):c.1709A>C (p.Tyr570Ser) rs2113157959
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006846.4(SPINK5):c.1724G>A (p.Arg575Lys)
NM_006846.4(SPINK5):c.1733G>A (p.Arg578Gln)
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.1754A>C (p.Asn585Thr) rs551099747
NM_006846.4(SPINK5):c.1767G>C (p.Glu589Asp)
NM_006846.4(SPINK5):c.1788C>G (p.His596Gln) rs144664803
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val) rs1438419399
NM_006846.4(SPINK5):c.1796C>T (p.Thr599Ile)
NM_006846.4(SPINK5):c.180C>T (p.Ile60=)
NM_006846.4(SPINK5):c.1844_1849del (p.Glu615_Arg616del)
NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)
NM_006846.4(SPINK5):c.1894T>C (p.Cys632Arg)
NM_006846.4(SPINK5):c.1894T>G (p.Cys632Gly) rs775767273
NM_006846.4(SPINK5):c.1895G>A (p.Cys632Tyr)
NM_006846.4(SPINK5):c.1906C>T (p.Arg636Trp)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.1942A>G (p.Arg648Gly) rs1754030938
NM_006846.4(SPINK5):c.1963G>A (p.Gly655Ser)
NM_006846.4(SPINK5):c.1966C>T (p.Pro656Ser)
NM_006846.4(SPINK5):c.1977G>T (p.Lys659Asn) rs1244556489
NM_006846.4(SPINK5):c.1994G>A (p.Cys665Tyr)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro) rs1752512482
NM_006846.4(SPINK5):c.2015+5G>T rs374012512
NM_006846.4(SPINK5):c.2016-3C>G
NM_006846.4(SPINK5):c.2016-3C>T rs2113177395
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
NM_006846.4(SPINK5):c.2047G>C (p.Glu683Gln)
NM_006846.4(SPINK5):c.2051A>G (p.Glu684Gly)
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.210G>T (p.Leu70=)
NM_006846.4(SPINK5):c.2112+3G>A
NM_006846.4(SPINK5):c.2113-3C>T rs987612777
NM_006846.4(SPINK5):c.2185C>T (p.Arg729Cys)
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp) rs776793634
NM_006846.4(SPINK5):c.2213A>G (p.Asn738Ser)
NM_006846.4(SPINK5):c.2228G>A (p.Cys743Tyr) rs1339348502
NM_006846.4(SPINK5):c.2234C>T (p.Ala745Val)
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2291G>T (p.Gly764Val) rs373599568
NM_006846.4(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.4(SPINK5):c.2318C>T (p.Thr773Ile)
NM_006846.4(SPINK5):c.2342T>C (p.Met781Thr)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
NM_006846.4(SPINK5):c.2375G>A (p.Ser792Asn) rs2113193373
NM_006846.4(SPINK5):c.2377G>A (p.Asp793Asn)
NM_006846.4(SPINK5):c.2381C>A (p.Pro794His)
NM_006846.4(SPINK5):c.2383G>A (p.Val795Ile) rs1754210917
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val) rs1170375768
NM_006846.4(SPINK5):c.2426T>C (p.Met809Thr) rs375381713
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys) rs1754220479
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.245A>G (p.His82Arg)
NM_006846.4(SPINK5):c.2478T>A (p.Asp826Glu)
NM_006846.4(SPINK5):c.2486G>A (p.Arg829Lys)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[3] (p.Asn843_Asp844insThrGlyGluArgSerAsn)
NM_006846.4(SPINK5):c.2505_2507del (p.Arg835del) rs778002683
NM_006846.4(SPINK5):c.2512A>G (p.Thr838Ala) rs1206262718
NM_006846.4(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.4(SPINK5):c.2540A>T (p.Asp847Val)
NM_006846.4(SPINK5):c.2562C>T (p.Ser854=) rs2113210964
NM_006846.4(SPINK5):c.2599A>G (p.Asn867Asp)
NM_006846.4(SPINK5):c.259C>G (p.Pro87Ala) rs780799549
NM_006846.4(SPINK5):c.2612G>A (p.Arg871Gln)
NM_006846.4(SPINK5):c.2620T>C (p.Tyr874His)
NM_006846.4(SPINK5):c.2624G>A (p.Gly875Asp)
NM_006846.4(SPINK5):c.2629A>C (p.Met877Leu)
NM_006846.4(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.4(SPINK5):c.2650A>G (p.Met884Val)
NM_006846.4(SPINK5):c.2666+4C>T rs376671081
NM_006846.4(SPINK5):c.2705A>G (p.Glu902Gly)
NM_006846.4(SPINK5):c.2721G>C (p.Lys907Asn) rs1754389082
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala) rs1212563023
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln) rs371134163
NM_006846.4(SPINK5):c.2759G>C (p.Arg920Pro) rs371134163
NM_006846.4(SPINK5):c.2767A>G (p.Ile923Val)
NM_006846.4(SPINK5):c.2776A>C (p.Asn926His)
NM_006846.4(SPINK5):c.2782C>A (p.Leu928Ile) rs1338766208
NM_006846.4(SPINK5):c.2821G>A (p.Asp941Asn)
NM_006846.4(SPINK5):c.2837C>T (p.Thr946Ile) rs1248127094
NM_006846.4(SPINK5):c.2840A>G (p.Asn947Ser) rs1243172589
NM_006846.4(SPINK5):c.2863G>C (p.Val955Leu) rs773604007
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu) rs1754449328
NM_006846.4(SPINK5):c.2914C>T (p.His972Tyr) rs897710997
NM_006846.4(SPINK5):c.2920A>G (p.Arg974Gly)
NM_006846.4(SPINK5):c.292G>A (p.Asp98Asn) rs1753154694
NM_006846.4(SPINK5):c.2932G>A (p.Glu978Lys)
NM_006846.4(SPINK5):c.2939A>G (p.Asp980Gly) rs778193022
NM_006846.4(SPINK5):c.2993T>A (p.Val998Glu) rs1754564973
NM_006846.4(SPINK5):c.2998C>T (p.Pro1000Ser) rs1469446157
NM_006846.4(SPINK5):c.2T>A (p.Met1Lys)
NM_006846.4(SPINK5):c.3011A>G (p.Tyr1004Cys) rs1004978122
NM_006846.4(SPINK5):c.3016T>C (p.Cys1006Arg) rs866882229
NM_006846.4(SPINK5):c.3028T>G (p.Leu1010Val) rs1754566872
NM_006846.4(SPINK5):c.3034C>T (p.Pro1012Ser) rs1754566941
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser) rs1483638724
NM_006846.4(SPINK5):c.3053G>C (p.Gly1018Ala) rs2113234006
NM_006846.4(SPINK5):c.3091A>G (p.Asn1031Asp) rs1581113847
NM_006846.4(SPINK5):c.3122G>A (p.Arg1041His)
NM_006846.4(SPINK5):c.3122G>T (p.Arg1041Leu)
NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)
NM_006846.4(SPINK5):c.3172A>G (p.Ser1058Gly) rs1754634181
NM_006846.4(SPINK5):c.3182C>G (p.Pro1061Arg) rs771163069
NM_006846.4(SPINK5):c.328A>G (p.Ile110Val)
NM_006846.4(SPINK5):c.338A>G (p.Asp113Gly) rs2113051809
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp) rs1753156960
NM_006846.4(SPINK5):c.37G>T (p.Ala13Ser) rs2127180984
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr) rs1753157802
NM_006846.4(SPINK5):c.426A>C (p.Gln142His) rs764813956
NM_006846.4(SPINK5):c.427A>G (p.Ile143Val)
NM_006846.4(SPINK5):c.443A>C (p.Glu148Ala)
NM_006846.4(SPINK5):c.460A>C (p.Ser154Arg) rs756283031
NM_006846.4(SPINK5):c.460A>G (p.Ser154Gly)
NM_006846.4(SPINK5):c.46C>T (p.Leu16Phe) rs370369039
NM_006846.4(SPINK5):c.473A>C (p.Gln158Pro)
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp) rs192473184
NM_006846.4(SPINK5):c.4A>C (p.Lys2Gln) rs2127180920
NM_006846.4(SPINK5):c.506G>C (p.Arg169Thr)
NM_006846.4(SPINK5):c.517C>T (p.Leu173Phe)
NM_006846.4(SPINK5):c.565A>G (p.Thr189Ala)
NM_006846.4(SPINK5):c.572G>A (p.Gly191Asp)
NM_006846.4(SPINK5):c.588G>C (p.Met196Ile) rs1753256051
NM_006846.4(SPINK5):c.602+6T>C
NM_006846.4(SPINK5):c.628C>A (p.Arg210=) rs535512727
NM_006846.4(SPINK5):c.631G>A (p.Glu211Lys) rs1163889432
NM_006846.4(SPINK5):c.64A>G (p.Ser22Gly) rs2127182478
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly) rs199757347
NM_006846.4(SPINK5):c.655A>G (p.Asn219Asp) rs975541808
NM_006846.4(SPINK5):c.666+6A>G
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn) rs769098540
NM_006846.4(SPINK5):c.716G>A (p.Cys239Tyr)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg) rs528798568
NM_006846.4(SPINK5):c.722G>A (p.Arg241Gln) rs1753398819
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.4(SPINK5):c.775G>C (p.Ala259Pro)
NM_006846.4(SPINK5):c.776C>A (p.Ala259Asp) rs373819431
NM_006846.4(SPINK5):c.781T>G (p.Cys261Gly) rs1753402604
NM_006846.4(SPINK5):c.788A>C (p.Glu263Ala) rs1753402958
NM_006846.4(SPINK5):c.795-11A>G rs1561685366
NM_006846.4(SPINK5):c.827C>G (p.Thr276Arg) rs766287346
NM_006846.4(SPINK5):c.848C>T (p.Ala283Val)
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn) rs755830397
NM_006846.4(SPINK5):c.882+19_882+20delinsGG
NM_006846.4(SPINK5):c.886C>G (p.Leu296Val) rs1753510621
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser) rs947124939
NM_006846.4(SPINK5):c.953T>C (p.Ile318Thr)
NM_006846.4(SPINK5):c.955C>T (p.Arg319Cys)
NM_006846.4(SPINK5):c.956G>A (p.Arg319His) rs1414114854
NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu) rs1343893946
NM_006846.4(SPINK5):c.999T>G (p.Cys333Trp) rs1253381247
NM_006892.4(DNMT3B):c.*1064del rs550022433
NM_006892.4(DNMT3B):c.*245dup rs886056621
NM_006892.4(DNMT3B):c.*299del rs3215552
NM_006892.4(DNMT3B):c.*577C>T rs886056623
NM_006892.4(DNMT3B):c.*747C>T rs553256979
NM_006892.4(DNMT3B):c.-21C>T rs542835821
NM_006892.4(DNMT3B):c.-234G>C rs756914098
NM_006892.4(DNMT3B):c.-264C>T rs1365103113
NM_006892.4(DNMT3B):c.1016G>A (p.Gly339Asp) rs754921958
NM_006892.4(DNMT3B):c.1039G>A (p.Gly347Ser)
NM_006892.4(DNMT3B):c.1040G>T (p.Gly347Val) rs770469129
NM_006892.4(DNMT3B):c.1056C>A (p.Asn352Lys) rs1980129917
NM_006892.4(DNMT3B):c.1072A>G (p.Asn358Asp)
NM_006892.4(DNMT3B):c.1084G>T (p.Val362Leu) rs886056614
NM_006892.4(DNMT3B):c.1109T>C (p.Leu370Ser)
NM_006892.4(DNMT3B):c.1131C>G (p.Asn377Lys) rs2146001543
NM_006892.4(DNMT3B):c.1155C>G (p.Asp385Glu) rs556733675
NM_006892.4(DNMT3B):c.1166C>A (p.Thr389Asn)
NM_006892.4(DNMT3B):c.1208_1209delinsAT (p.Cys403Tyr) rs1568850004
NM_006892.4(DNMT3B):c.1221C>T (p.Gly407=) rs761609426
NM_006892.4(DNMT3B):c.1252+6T>G rs759270839
NM_006892.4(DNMT3B):c.1274C>T (p.Ala425Val)
NM_006892.4(DNMT3B):c.1275CAA[2] (p.Asn427del) rs752142241
NM_006892.4(DNMT3B):c.1297+3A>G
NM_006892.4(DNMT3B):c.1297+5C>T
NM_006892.4(DNMT3B):c.130C>T (p.Pro44Ser)
NM_006892.4(DNMT3B):c.131C>T (p.Pro44Leu) rs781313570
NM_006892.4(DNMT3B):c.1325A>G (p.Asn442Ser)
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006892.4(DNMT3B):c.1421A>G (p.Tyr474Cys) rs377551093
NM_006892.4(DNMT3B):c.143-3C>T rs768937892
NM_006892.4(DNMT3B):c.1475A>G (p.Asn492Ser)
NM_006892.4(DNMT3B):c.1489C>G (p.Arg497Gly)
NM_006892.4(DNMT3B):c.1490G>A (p.Arg497Gln)
NM_006892.4(DNMT3B):c.1491-8G>A
NM_006892.4(DNMT3B):c.1537G>T (p.Ala513Ser)
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys)
NM_006892.4(DNMT3B):c.154A>C (p.Ser52Arg) rs1978603308
NM_006892.4(DNMT3B):c.1582C>T (p.Leu528Phe) rs960330899
NM_006892.4(DNMT3B):c.158C>T (p.Ser53Leu) rs544561079
NM_006892.4(DNMT3B):c.1598A>G (p.His533Arg) rs1601121318
NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp)
NM_006892.4(DNMT3B):c.1613G>A (p.Arg538His) rs1980937463
NM_006892.4(DNMT3B):c.1626G>C (p.Trp542Cys)
NM_006892.4(DNMT3B):c.1664G>T (p.Gly555Val)
NM_006892.4(DNMT3B):c.1675-9A>T
NM_006892.4(DNMT3B):c.1685A>G (p.Lys562Arg)
NM_006892.4(DNMT3B):c.1694C>G (p.Pro565Arg)
NM_006892.4(DNMT3B):c.1700T>C (p.Ile567Thr)
NM_006892.4(DNMT3B):c.1705G>A (p.Ala569Thr)
NM_006892.4(DNMT3B):c.1712G>A (p.Arg571Gln)
NM_006892.4(DNMT3B):c.1717C>T (p.Arg573Trp)
NM_006892.4(DNMT3B):c.1717_1718delinsTT (p.Arg573Leu)
NM_006892.4(DNMT3B):c.1727G>A (p.Arg576Gln)
NM_006892.4(DNMT3B):c.1749C>T (p.Gly583=) rs2146036101
NM_006892.4(DNMT3B):c.1753G>A (p.Ala585Thr) rs750849178
NM_006892.4(DNMT3B):c.1754C>T (p.Ala585Val)
NM_006892.4(DNMT3B):c.1758A>G (p.Thr586=) rs1981038370
NM_006892.4(DNMT3B):c.1760-6_1760-5delinsTG rs1981147588
NM_006892.4(DNMT3B):c.1760-6_1760-5inv
NM_006892.4(DNMT3B):c.1760-9C>T rs886056615
NM_006892.4(DNMT3B):c.1760G>A (p.Gly587Asp) rs148312208
NM_006892.4(DNMT3B):c.1791G>A (p.Lys597=) rs1981150796
NM_006892.4(DNMT3B):c.1796G>A (p.Gly599Glu) rs770730685
NM_006892.4(DNMT3B):c.1841G>A (p.Gly614Glu)
NM_006892.4(DNMT3B):c.1844C>A (p.Thr615Asn)
NM_006892.4(DNMT3B):c.1846G>A (p.Val616Met) rs754182982
NM_006892.4(DNMT3B):c.1860G>C (p.Gly620=) rs886056616
NM_006892.4(DNMT3B):c.1868A>G (p.Lys623Arg) rs1048134602
NM_006892.4(DNMT3B):c.1882G>A (p.Val628Met) rs748988879
NM_006892.4(DNMT3B):c.1900A>G (p.Lys634Glu)
NM_006892.4(DNMT3B):c.1905+6G>A rs774018990
NM_006892.4(DNMT3B):c.1906A>G (p.Ile636Val) rs770124472
NM_006892.4(DNMT3B):c.1975C>A (p.Pro659Thr) rs2146049095
NM_006892.4(DNMT3B):c.197A>G (p.Tyr66Cys) rs964839947
NM_006892.4(DNMT3B):c.1996+6C>G rs77355896
NM_006892.4(DNMT3B):c.2008C>T (p.Arg670Trp)
NM_006892.4(DNMT3B):c.2032CTG[1] (p.Leu679del) rs2146052530
NM_006892.4(DNMT3B):c.2172C>G (p.Ile724Met) rs1981465098
NM_006892.4(DNMT3B):c.2184T>C (p.Ala728=) rs1981468109
NM_006892.4(DNMT3B):c.2238G>A (p.Val746=)
NM_006892.4(DNMT3B):c.2242G>A (p.Ala748Thr) rs770423841
NM_006892.4(DNMT3B):c.2243C>T (p.Ala748Val) rs1273316071
NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del)
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) rs759448571
NM_006892.4(DNMT3B):c.2301+3A>G rs780112683
NM_006892.4(DNMT3B):c.2302-21_2302-20delinsGA
NM_006892.4(DNMT3B):c.2308A>G (p.Lys770Glu) rs2146088364
NM_006892.4(DNMT3B):c.2311G>A (p.Val771Ile) rs886056617
NM_006892.4(DNMT3B):c.2340G>T (p.Ser780=)
NM_006892.4(DNMT3B):c.2346A>C (p.Lys782Asn) rs1555842652
NM_006892.4(DNMT3B):c.2353A>G (p.Lys785Glu) rs1981972213
NM_006892.4(DNMT3B):c.2452G>T (p.Val818Leu) rs121908940
NM_006892.4(DNMT3B):c.2459A>G (p.Asn820Ser)
NM_006892.4(DNMT3B):c.2468G>A (p.Arg823His)
NM_006892.4(DNMT3B):c.2477G>A (p.Arg826His) rs756972254
NM_006892.4(DNMT3B):c.253C>G (p.Pro85Ala) rs1601085875
NM_006892.4(DNMT3B):c.289C>G (p.Arg97Gly) rs769220144
NM_006892.4(DNMT3B):c.301C>T (p.Pro101Ser)
NM_006892.4(DNMT3B):c.356C>T (p.Pro119Leu) rs1228962376
NM_006892.4(DNMT3B):c.374G>A (p.Arg125Gln)
NM_006892.4(DNMT3B):c.407C>G (p.Ser136Cys)
NM_006892.4(DNMT3B):c.412G>A (p.Val138Met)
NM_006892.4(DNMT3B):c.412G>T (p.Val138Leu)
NM_006892.4(DNMT3B):c.433-9T>C
NM_006892.4(DNMT3B):c.437T>C (p.Leu146Pro) rs1161625162
NM_006892.4(DNMT3B):c.442C>T (p.Arg148Trp)
NM_006892.4(DNMT3B):c.443G>A (p.Arg148Gln) rs1457500486
NM_006892.4(DNMT3B):c.446G>A (p.Arg149Gln)
NM_006892.4(DNMT3B):c.457T>A (p.Ser153Thr) rs1230558112
NM_006892.4(DNMT3B):c.476C>A (p.Pro159Gln) rs764064020
NM_006892.4(DNMT3B):c.529A>G (p.Thr177Ala) rs1280453183
NM_006892.4(DNMT3B):c.560C>A (p.Pro187His) rs774622592
NM_006892.4(DNMT3B):c.560C>G (p.Pro187Arg) rs774622592
NM_006892.4(DNMT3B):c.568C>T (p.Arg190Cys)
NM_006892.4(DNMT3B):c.57C>G (p.Asp19Glu)
NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg) rs1568840224
NM_006892.4(DNMT3B):c.583A>G (p.Ser195Gly)
NM_006892.4(DNMT3B):c.584G>A (p.Ser195Asn) rs1601092841
NM_006892.4(DNMT3B):c.591G>C (p.Gln197His)
NM_006892.4(DNMT3B):c.592G>C (p.Gly198Arg) rs61758433
NM_006892.4(DNMT3B):c.593G>A (p.Gly198Glu)
NM_006892.4(DNMT3B):c.595G>C (p.Gly199Arg) rs1979451956
NM_006892.4(DNMT3B):c.596G>A (p.Gly199Asp) rs776039454
NM_006892.4(DNMT3B):c.619G>A (p.Ala207Thr) rs145326983
NM_006892.4(DNMT3B):c.625A>G (p.Ser209Gly)
NM_006892.4(DNMT3B):c.644C>T (p.Ser215Leu)
NM_006892.4(DNMT3B):c.647A>G (p.Glu216Gly)
NM_006892.4(DNMT3B):c.655G>A (p.Asp219Asn) rs376006476
NM_006892.4(DNMT3B):c.710C>G (p.Ser237Cys) rs964977606
NM_006892.4(DNMT3B):c.739A>G (p.Lys247Glu)
NM_006892.4(DNMT3B):c.775C>T (p.Arg259Trp)
NM_006892.4(DNMT3B):c.904A>G (p.Met302Val) rs768136416
NM_006892.4(DNMT3B):c.908A>T (p.Tyr303Phe)
NM_006892.4(DNMT3B):c.921+13G>A rs1979990258
NM_006892.4(DNMT3B):c.921+5C>A
NM_006892.4(DNMT3B):c.930G>C (p.Arg310Ser) rs772806134
NM_006892.4(DNMT3B):c.931G>C (p.Val311Leu)
NM_006892.4(DNMT3B):c.935G>C (p.Arg312Pro) rs763435705
NM_006892.4(DNMT3B):c.955A>T (p.Ser319Cys) rs761984399
NM_006892.4(DNMT3B):c.960C>A (p.Ser320Arg) rs886056613
NM_006892.4(DNMT3B):c.997T>A (p.Leu333Met) rs2145982678
NM_006895.3(HNMT):c.137+2287G>A
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu) rs755441595
NM_006895.3(HNMT):c.534C>T (p.Gly178=)
NM_006907.4(PYCR1):c.-378G>C
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) rs763349891
NM_006907.4(PYCR1):c.770C>T (p.Ala257Val)
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro) rs1590954146
NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
NM_006946.4(SPTBN2):c.3430C>T (p.Arg1144Ter) rs1402216317
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337
NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)
NM_006996.3(SLC19A2):c.*1349T>C rs1657943320
NM_006996.3(SLC19A2):c.*1493G>A rs886045524
NM_006996.3(SLC19A2):c.*1523A>G rs886045523
NM_006996.3(SLC19A2):c.*1539CTGT[1] rs886045522
NM_006996.3(SLC19A2):c.*1543C>G rs1657937297
NM_006996.3(SLC19A2):c.*1588T>G rs886045521
NM_006996.3(SLC19A2):c.*174C>G rs1657969443
NM_006996.3(SLC19A2):c.*1901AATA[1] rs745730912
NM_006996.3(SLC19A2):c.*255A>T rs562829928
NM_006996.3(SLC19A2):c.*390T>G rs886045528
NM_006996.3(SLC19A2):c.*440T>C rs1657963505
NM_006996.3(SLC19A2):c.*712dup rs886045526
NM_006996.3(SLC19A2):c.*898_*899del rs886045525
NM_006996.3(SLC19A2):c.-103G>A rs886045532
NM_006996.3(SLC19A2):c.-163G>T rs886045533
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile) rs754002628
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) rs1198335067
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) rs369937650
NM_006996.3(SLC19A2):c.205-25_205-24dup rs755410874
NM_006996.3(SLC19A2):c.205-25dup rs755410874
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) rs558617037
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) rs758126745
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529
NM_007118.4(TRIO):c.652G>A (p.Val218Ile)
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met)
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr)
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val)
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn) rs188130682
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)
NM_007259.5(VPS45):c.1181A>G (p.His394Arg) rs1486347658
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys) rs1656350811
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln) rs1656350811
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro)
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
NM_007259.5(VPS45):c.123A>G (p.Gln41=) rs1654857826
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) rs201002467
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln) rs1571849671
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln)
NM_007259.5(VPS45):c.130A>G (p.Ile44Val)
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser)
NM_007259.5(VPS45):c.1412A>G (p.His471Arg) rs782441436
NM_007259.5(VPS45):c.1414G>A (p.Glu472Lys) rs1656459616
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) rs1553802469
NM_007259.5(VPS45):c.1461del (p.Pro488fs)
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg) rs1553802482
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile) rs1656465946
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly) rs1571879434
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr) rs2101608934
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu) rs1191051819
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg) rs2101609044
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro) rs142968690
NM_007259.5(VPS45):c.1672G>C (p.Glu558Gln)
NM_007259.5(VPS45):c.1678T>C (p.Ser560Pro)
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly) rs1278390607
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly)
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) rs782358688
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) rs1654862605
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)
NM_007259.5(VPS45):c.187A>G (p.Met63Val) rs1553796360
NM_007259.5(VPS45):c.189G>T (p.Met63Ile)
NM_007259.5(VPS45):c.194A>G (p.His65Arg)
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser) rs1374559604
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg) rs781906938
NM_007259.5(VPS45):c.301G>A (p.Val101Met)
NM_007259.5(VPS45):c.304A>G (p.Ile102Val)
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn) rs947757508
NM_007259.5(VPS45):c.319G>C (p.Val107Leu) rs782553177
NM_007259.5(VPS45):c.320T>A (p.Val107Glu)
NM_007259.5(VPS45):c.352G>A (p.Val118Ile) rs2101515689
NM_007259.5(VPS45):c.370-16G>A
NM_007259.5(VPS45):c.404A>G (p.His135Arg) rs781981353
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) rs782339252
NM_007259.5(VPS45):c.426G>C (p.Leu142Phe)
NM_007259.5(VPS45):c.429T>A (p.Gly143=)
NM_007259.5(VPS45):c.439-6A>G rs1272899698
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter) rs1655433446
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu) rs998654797
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr)
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro) rs142225617
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly)
NM_007259.5(VPS45):c.576+4T>C rs1553798326
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala)
NM_007259.5(VPS45):c.658G>C (p.Asp220His) rs1175122293
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro)
NM_007259.5(VPS45):c.687+5A>G
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys) rs1655694540
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs) rs782700993
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) rs1553799320
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile) rs782367453
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe) rs2101534236
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser) rs2101534429
NM_007259.5(VPS45):c.861A>G (p.Ile287Met)
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) rs782583704
NM_007259.5(VPS45):c.938C>T (p.Ala313Val)
NM_007259.5(VPS45):c.982G>A (p.Val328Ile)
NM_007259.5(VPS45):c.982G>C (p.Val328Leu)
NM_012188.5(FOXI1):c.*1094T>C rs1758609305
NM_012188.5(FOXI1):c.*176G>T rs151161274
NM_012188.5(FOXI1):c.*285A>G rs1758584609
NM_012188.5(FOXI1):c.*707C>T rs886060404
NM_012188.5(FOXI1):c.*815C>T rs550211890
NM_012188.5(FOXI1):c.*840G>T rs1758600627
NM_012188.5(FOXI1):c.1004G>A (p.Gly335Asp) rs764345848
NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu) rs749433068
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070
NM_012188.5(FOXI1):c.528G>A (p.Ser176=) rs373094576
NM_012188.5(FOXI1):c.568G>C (p.Asp190His) rs886060398
NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)
NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) rs886060399
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400
NM_012188.5(FOXI1):c.972G>C (p.Pro324=) rs56128152
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)
NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)
NM_012208.4(HARS2):c.1320G>T (p.Glu440Asp) rs1429114032
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala) rs748402163
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
NM_012208.4(HARS2):c.1462-3C>T
NM_012208.4(HARS2):c.322T>C (p.Tyr108His) rs2149852638
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_012210.4(TRIM32):c.*1060T>C rs886063385
NM_012210.4(TRIM32):c.*1074A>T rs1861131414
NM_012210.4(TRIM32):c.*1207A>G rs886063386
NM_012210.4(TRIM32):c.*1254C>A rs1861140982
NM_012210.4(TRIM32):c.*1490A>C rs886063388
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.*206A>G rs567913198
NM_012210.4(TRIM32):c.*250G>C rs1861092175
NM_012210.4(TRIM32):c.*312G>C rs1434937610
NM_012210.4(TRIM32):c.*371T>C rs866692844
NM_012210.4(TRIM32):c.*464C>G rs1861100376
NM_012210.4(TRIM32):c.*479G>T rs543534409
NM_012210.4(TRIM32):c.*737T>C rs549857802
NM_012210.4(TRIM32):c.*811del rs886063382
NM_012210.4(TRIM32):c.*866A>C rs886063383
NM_012210.4(TRIM32):c.-143C>T rs1860294388
NM_012210.4(TRIM32):c.1009A>G (p.Arg337Gly)
NM_012210.4(TRIM32):c.1013C>G (p.Ala338Gly)
NM_012210.4(TRIM32):c.1018C>A (p.Pro340Thr)
NM_012210.4(TRIM32):c.1031G>A (p.Arg344Gln)
NM_012210.4(TRIM32):c.1034G>C (p.Gly345Ala)
NM_012210.4(TRIM32):c.1045G>C (p.Ala349Pro)
NM_012210.4(TRIM32):c.1046C>T (p.Ala349Val) rs774316527
NM_012210.4(TRIM32):c.1095C>T (p.Gly365=) rs1861024296
NM_012210.4(TRIM32):c.1105G>A (p.Gly369Arg) rs2132073931
NM_012210.4(TRIM32):c.1110G>A (p.Met370Ile) rs1861024967
NM_012210.4(TRIM32):c.1114A>C (p.Asn372His)
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met) rs1861026363
NM_012210.4(TRIM32):c.1139C>G (p.Thr380Ser) rs139277710
NM_012210.4(TRIM32):c.1143T>G (p.Ser381Arg) rs1861027670
NM_012210.4(TRIM32):c.1167C>A (p.Asp389Glu) rs2132074143
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu) rs373015960
NM_012210.4(TRIM32):c.11C>T (p.Ala4Val)
NM_012210.4(TRIM32):c.1204G>A (p.Gly402Ser) rs555106908
NM_012210.4(TRIM32):c.1238G>T (p.Gly413Val)
NM_012210.4(TRIM32):c.1279C>T (p.Pro427Ser) rs2132074445
NM_012210.4(TRIM32):c.1285C>T (p.Leu429Phe) rs757634856
NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)
NM_012210.4(TRIM32):c.1303G>A (p.Ala435Thr) rs1861037722
NM_012210.4(TRIM32):c.1313G>A (p.Cys438Tyr) rs1861038374
NM_012210.4(TRIM32):c.1315C>G (p.Gln439Glu) rs2132074558
NM_012210.4(TRIM32):c.1354C>A (p.Leu452Ile)
NM_012210.4(TRIM32):c.1376G>A (p.Gly459Asp)
NM_012210.4(TRIM32):c.137A>G (p.Gln46Arg)
NM_012210.4(TRIM32):c.1381T>C (p.Cys461Arg)
NM_012210.4(TRIM32):c.1387G>C (p.Ala463Pro) rs886043897
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.1434G>T (p.Leu478Phe)
NM_012210.4(TRIM32):c.1449T>G (p.Phe483Leu) rs2132074954
NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)
NM_012210.4(TRIM32):c.149A>C (p.Lys50Thr)
NM_012210.4(TRIM32):c.1510G>T (p.Val504Leu) rs1165772522
NM_012210.4(TRIM32):c.1546C>T (p.Pro516Ser)
NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys) rs1861055421
NM_012210.4(TRIM32):c.1579G>T (p.Val527Phe) rs368901621
NM_012210.4(TRIM32):c.1583A>G (p.Tyr528Cys)
NM_012210.4(TRIM32):c.1593G>A (p.Gln531=) rs2132075353
NM_012210.4(TRIM32):c.1601G>A (p.Gly534Asp) rs2132075369
NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile) rs1564215128
NM_012210.4(TRIM32):c.1687C>T (p.Arg563Cys)
NM_012210.4(TRIM32):c.1688G>T (p.Arg563Leu)
NM_012210.4(TRIM32):c.1695T>G (p.Ile565Met) rs1564218246
NM_012210.4(TRIM32):c.1696A>G (p.Ser566Gly) rs779755416
NM_012210.4(TRIM32):c.1703TCT[1] (p.Phe569del) rs1190512893
NM_012210.4(TRIM32):c.1726C>T (p.Arg576Cys)
NM_012210.4(TRIM32):c.1729T>C (p.Cys577Arg)
NM_012210.4(TRIM32):c.1757G>A (p.Arg586His) rs866695848
NM_012210.4(TRIM32):c.1757G>C (p.Arg586Pro)
NM_012210.4(TRIM32):c.1757G>T (p.Arg586Leu) rs866695848
NM_012210.4(TRIM32):c.1757GTG[1] (p.Gly587del)
NM_012210.4(TRIM32):c.1763A>T (p.Asp588Val) rs746890090
NM_012210.4(TRIM32):c.1768A>G (p.Ile590Val)
NM_012210.4(TRIM32):c.1786C>G (p.Arg596Gly) rs765348678
NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys) rs765348678
NM_012210.4(TRIM32):c.1787G>A (p.Arg596His) rs750300057
NM_012210.4(TRIM32):c.178C>A (p.Arg60Ser) rs1353830472
NM_012210.4(TRIM32):c.179G>A (p.Arg60His) rs751028044
NM_012210.4(TRIM32):c.179G>T (p.Arg60Leu) rs751028044
NM_012210.4(TRIM32):c.1858G>A (p.Val620Met) rs1861072162
NM_012210.4(TRIM32):c.1864A>G (p.Ile622Val) rs1366193406
NM_012210.4(TRIM32):c.1870C>G (p.Leu624Val) rs1564218609
NM_012210.4(TRIM32):c.1871T>C (p.Leu624Pro) rs761193342
NM_012210.4(TRIM32):c.1874C>T (p.Thr625Ile) rs1861074314
NM_012210.4(TRIM32):c.1879A>G (p.Lys627Glu)
NM_012210.4(TRIM32):c.1885C>T (p.Gln629Ter)
NM_012210.4(TRIM32):c.1888C>G (p.Leu630Val)
NM_012210.4(TRIM32):c.188T>C (p.Phe63Ser) rs1860952573
NM_012210.4(TRIM32):c.1934A>G (p.Tyr645Cys) rs1861076438
NM_012210.4(TRIM32):c.1948T>C (p.Tyr650His) rs1861077008
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro) rs1402865703
NM_012210.4(TRIM32):c.1955C>T (p.Thr652Ile) rs2132076367
NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)
NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn) rs1252982308
NM_012210.4(TRIM32):c.236A>T (p.Asn79Ile)
NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)
NM_012210.4(TRIM32):c.244G>A (p.Val82Met) rs1167389328
NM_012210.4(TRIM32):c.251A>T (p.Lys84Met)
NM_012210.4(TRIM32):c.276C>A (p.Ser92Arg) rs140589523
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr) rs1231169096
NM_012210.4(TRIM32):c.281C>T (p.Ala94Val) rs997358002
NM_012210.4(TRIM32):c.316C>T (p.Arg106Cys) rs1390593037
NM_012210.4(TRIM32):c.317G>A (p.Arg106His) rs760730435
NM_012210.4(TRIM32):c.319C>G (p.Leu107Val) rs886042410
NM_012210.4(TRIM32):c.338G>A (p.Arg113Gln)
NM_012210.4(TRIM32):c.341G>A (p.Ser114Asn) rs192516080
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp) rs767024504
NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)
NM_012210.4(TRIM32):c.389C>T (p.Pro130Leu)
NM_012210.4(TRIM32):c.398A>G (p.His133Arg) rs1860971813
NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe) rs756350336
NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)
NM_012210.4(TRIM32):c.413T>G (p.Val138Gly) rs918796736
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu) rs930137730
NM_012210.4(TRIM32):c.437G>A (p.Arg146His) rs1473368288
NM_012210.4(TRIM32):c.442G>C (p.Asp148His)
NM_012210.4(TRIM32):c.463C>A (p.Arg155Ser) rs374055553
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro) rs777914761
NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr) rs199699832
NM_012210.4(TRIM32):c.479T>G (p.Met160Arg) rs199699832
NM_012210.4(TRIM32):c.480G>C (p.Met160Ile) rs200196832
NM_012210.4(TRIM32):c.485A>G (p.Glu162Gly) rs1018629963
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln) rs761591526
NM_012210.4(TRIM32):c.56A>C (p.Glu19Ala)
NM_012210.4(TRIM32):c.572A>G (p.Glu191Gly) rs2132072188
NM_012210.4(TRIM32):c.583G>T (p.Val195Phe)
NM_012210.4(TRIM32):c.590A>G (p.Asp197Gly)
NM_012210.4(TRIM32):c.601C>G (p.Arg201Gly) rs147304059
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys) rs147304059
NM_012210.4(TRIM32):c.608G>A (p.Arg203Gln)
NM_012210.4(TRIM32):c.609G>T (p.Arg203=) rs2132072344
NM_012210.4(TRIM32):c.621A>G (p.Thr207=) rs1206247561
NM_012210.4(TRIM32):c.638T>G (p.Val213Gly) rs1860990982
NM_012210.4(TRIM32):c.660G>C (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.661G>A (p.Val221Ile)
NM_012210.4(TRIM32):c.682C>T (p.Leu228Phe) rs1860993761
NM_012210.4(TRIM32):c.697G>T (p.Val233Leu) rs747723402
NM_012210.4(TRIM32):c.700C>A (p.Gln234Lys) rs886043553
NM_012210.4(TRIM32):c.706G>A (p.Val236Met)
NM_012210.4(TRIM32):c.710_712del (p.Ser237_Arg238delinsCys)
NM_012210.4(TRIM32):c.713G>T (p.Arg238Leu) rs564290779
NM_012210.4(TRIM32):c.735G>T (p.Lys245Asn)
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu) rs2132072729
NM_012210.4(TRIM32):c.750T>G (p.Asp250Glu)
NM_012210.4(TRIM32):c.75G>C (p.Glu25Asp) rs1262596490
NM_012210.4(TRIM32):c.769A>C (p.Thr257Pro) rs2132072833
NM_012210.4(TRIM32):c.770C>T (p.Thr257Ile)
NM_012210.4(TRIM32):c.778GAG[2] (p.Glu262del) rs545471341
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly) rs372298402
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp) rs372298402
NM_012210.4(TRIM32):c.821C>G (p.Thr274Ser) rs1861005429
NM_012210.4(TRIM32):c.827A>C (p.Gln276Pro)
NM_012210.4(TRIM32):c.836A>T (p.Glu279Val)
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro) rs1861006758
NM_012210.4(TRIM32):c.851G>A (p.Gly284Asp) rs1861007449
NM_012210.4(TRIM32):c.856G>A (p.Val286Ile) rs776918693
NM_012210.4(TRIM32):c.863C>T (p.Pro288Leu)
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met) rs766687896
NM_012210.4(TRIM32):c.875G>A (p.Gly292Glu) rs1554732992
NM_012210.4(TRIM32):c.883G>T (p.Val295Phe) rs1554732997
NM_012210.4(TRIM32):c.893C>T (p.Pro298Leu) rs2132073313
NM_012210.4(TRIM32):c.901G>A (p.Val301Ile) rs1490242765
NM_012210.4(TRIM32):c.925A>G (p.Met309Val) rs1861013304
NM_012210.4(TRIM32):c.925A>T (p.Met309Leu) rs1861013304
NM_012210.4(TRIM32):c.926T>C (p.Met309Thr)
NM_012210.4(TRIM32):c.941C>T (p.Ser314Phe)
NM_012210.4(TRIM32):c.973A>T (p.Met325Leu)
NM_012210.4(TRIM32):c.981G>A (p.Met327Ile)
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg) rs377510422
NM_012210.4(TRIM32):c.98G>A (p.Arg33His) rs199863390
NM_012210.4(TRIM32):c.991_992delinsTT (p.Glu331Leu) rs2132073592
NM_012233.3(RAB3GAP1):c.*1107A>C rs568271625
NM_012233.3(RAB3GAP1):c.*1208dup rs200869351
NM_012233.3(RAB3GAP1):c.*1212A>G rs1427874543
NM_012233.3(RAB3GAP1):c.*174T>C rs886054854
NM_012233.3(RAB3GAP1):c.*252T>G rs7564565
NM_012233.3(RAB3GAP1):c.*255T>G rs7564566
NM_012233.3(RAB3GAP1):c.*547A>G rs886054856
NM_012233.3(RAB3GAP1):c.*822T>G rs1175250342
NM_012233.3(RAB3GAP1):c.*985dup rs370069043
NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu) rs886054851
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) rs780827916
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=) rs755867265
NM_012233.3(RAB3GAP1):c.1924-3C>T rs984857143
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) rs886054853
NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp) rs748968368
NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr) rs77535003
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser) rs1688906713
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) rs886054850
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) rs779596900
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) rs143078664
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) rs1842359062
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1087A>C rs1558135886
NM_012414.4(RAB3GAP2):c.*108T>A rs886046016
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1340T>C rs1657714085
NM_012414.4(RAB3GAP2):c.*1560A>G rs1422943080
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2336T>G rs1049662170
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2386A>C rs1657684140
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*417A>G rs576040740
NM_012414.4(RAB3GAP2):c.*509G>A rs1046907825
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.1030A>G (p.Asn344Asp) rs1174986383
NM_012414.4(RAB3GAP2):c.103C>T (p.Arg35Trp)
NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)
NM_012414.4(RAB3GAP2):c.1078G>C (p.Ala360Pro)
NM_012414.4(RAB3GAP2):c.1102G>A (p.Val368Ile)
NM_012414.4(RAB3GAP2):c.1105G>A (p.Glu369Lys) rs2102871785
NM_012414.4(RAB3GAP2):c.1151G>C (p.Arg384Thr)
NM_012414.4(RAB3GAP2):c.1183T>C (p.Cys395Arg) rs2102870921
NM_012414.4(RAB3GAP2):c.1216G>A (p.Gly406Ser)
NM_012414.4(RAB3GAP2):c.1260C>T (p.Arg420=) rs1658659314
NM_012414.4(RAB3GAP2):c.1262T>C (p.Met421Thr)
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.1307T>C (p.Val436Ala)
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) rs1658613102
NM_012414.4(RAB3GAP2):c.1346T>A (p.Phe449Tyr)
NM_012414.4(RAB3GAP2):c.1367A>G (p.Gln456Arg)
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln) rs1468198640
NM_012414.4(RAB3GAP2):c.1376G>A (p.Ser459Asn)
NM_012414.4(RAB3GAP2):c.1379G>C (p.Arg460Pro) rs757551395
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) rs886046022
NM_012414.4(RAB3GAP2):c.1424T>C (p.Leu475Ser)
NM_012414.4(RAB3GAP2):c.1463C>G (p.Ala488Gly) rs201655012
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) rs1658595836
NM_012414.4(RAB3GAP2):c.151G>A (p.Ala51Thr)
NM_012414.4(RAB3GAP2):c.151G>C (p.Ala51Pro)
NM_012414.4(RAB3GAP2):c.154T>C (p.Trp52Arg)
NM_012414.4(RAB3GAP2):c.157G>A (p.Glu53Lys)
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) rs149563712
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1622T>C (p.Leu541Ser)
NM_012414.4(RAB3GAP2):c.1624G>T (p.Ala542Ser)
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1631+6G>T
NM_012414.4(RAB3GAP2):c.1649G>A (p.Arg550Gln) rs1374925013
NM_012414.4(RAB3GAP2):c.1667T>G (p.Leu556Arg)
NM_012414.4(RAB3GAP2):c.1687T>G (p.Leu563Val)
NM_012414.4(RAB3GAP2):c.1712T>A (p.Leu571His) rs2102869135
NM_012414.4(RAB3GAP2):c.1714+5G>A
NM_012414.4(RAB3GAP2):c.172C>A (p.Gln58Lys)
NM_012414.4(RAB3GAP2):c.1814C>A (p.Pro605Gln)
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.1999-2del
NM_012414.4(RAB3GAP2):c.2020C>T (p.Leu674Phe)
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys) rs1658438143
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala) rs1659134905
NM_012414.4(RAB3GAP2):c.206C>T (p.Thr69Ile)
NM_012414.4(RAB3GAP2):c.2113G>A (p.Asp705Asn) rs906042384
NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)
NM_012414.4(RAB3GAP2):c.2170C>G (p.Leu724Val)
NM_012414.4(RAB3GAP2):c.2171T>C (p.Leu724Pro)
NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr) rs1553275637
NM_012414.4(RAB3GAP2):c.2276T>C (p.Leu759Ser)
NM_012414.4(RAB3GAP2):c.235G>C (p.Val79Leu)
NM_012414.4(RAB3GAP2):c.2371A>G (p.Ile791Val)
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.2428G>A (p.Glu810Lys)
NM_012414.4(RAB3GAP2):c.2453C>G (p.Ser818Cys)
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) rs886046020
NM_012414.4(RAB3GAP2):c.2473C>G (p.Arg825Gly) rs374334249
NM_012414.4(RAB3GAP2):c.2477C>G (p.Thr826Arg) rs1658187235
NM_012414.4(RAB3GAP2):c.2489A>G (p.Gln830Arg) rs2102859411
NM_012414.4(RAB3GAP2):c.2509G>T (p.Ala837Ser)
NM_012414.4(RAB3GAP2):c.2525A>G (p.His842Arg)
NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys) rs1658184967
NM_012414.4(RAB3GAP2):c.2578-5A>T
NM_012414.4(RAB3GAP2):c.2586A>G (p.Gln862=)
NM_012414.4(RAB3GAP2):c.2611G>A (p.Ala871Thr)
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.265A>G (p.Met89Val)
NM_012414.4(RAB3GAP2):c.2717A>G (p.Lys906Arg)
NM_012414.4(RAB3GAP2):c.2756C>G (p.Ala919Gly) rs2102858848
NM_012414.4(RAB3GAP2):c.2758G>A (p.Glu920Lys)
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg) rs1659133093
NM_012414.4(RAB3GAP2):c.2852T>A (p.Phe951Tyr)
NM_012414.4(RAB3GAP2):c.2853C>G (p.Phe951Leu)
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys) rs1658094190
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) rs1437597491
NM_012414.4(RAB3GAP2):c.2978C>G (p.Pro993Arg)
NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)
NM_012414.4(RAB3GAP2):c.3038A>C (p.His1013Pro)
NM_012414.4(RAB3GAP2):c.303G>A (p.Val101=)
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.3061G>A (p.Val1021Ile)
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)
NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)
NM_012414.4(RAB3GAP2):c.3154+3A>G rs1658032998
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012414.4(RAB3GAP2):c.3225+5G>C
NM_012414.4(RAB3GAP2):c.3232A>C (p.Lys1078Gln)
NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)
NM_012414.4(RAB3GAP2):c.3280A>C (p.Thr1094Pro)
NM_012414.4(RAB3GAP2):c.3288G>A (p.Met1096Ile)
NM_012414.4(RAB3GAP2):c.3301G>A (p.Gly1101Ser)
NM_012414.4(RAB3GAP2):c.3314A>G (p.Asp1105Gly)
NM_012414.4(RAB3GAP2):c.3353A>T (p.Asp1118Val)
NM_012414.4(RAB3GAP2):c.3380C>G (p.Thr1127Ser)
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_012414.4(RAB3GAP2):c.3551G>T (p.Ser1184Ile)
NM_012414.4(RAB3GAP2):c.3563A>C (p.Asn1188Thr)
NM_012414.4(RAB3GAP2):c.3586T>A (p.Ser1196Thr)
NM_012414.4(RAB3GAP2):c.3614T>G (p.Met1205Arg)
NM_012414.4(RAB3GAP2):c.3704A>G (p.Lys1235Arg)
NM_012414.4(RAB3GAP2):c.3713C>T (p.Thr1238Ile)
NM_012414.4(RAB3GAP2):c.3752A>T (p.Asp1251Val) rs769405335
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.3925G>A (p.Gly1309Arg)
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)
NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
NM_012414.4(RAB3GAP2):c.3995del (p.Pro1332fs)
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) rs1381192866
NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)
NM_012414.4(RAB3GAP2):c.4051G>C (p.Glu1351Gln) rs1558136466
NM_012414.4(RAB3GAP2):c.4180T>A (p.Ter1394Arg)
NM_012414.4(RAB3GAP2):c.496C>T (p.Arg166Cys)
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys) rs1659068803
NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)
NM_012414.4(RAB3GAP2):c.550C>T (p.Pro184Ser)
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.613A>G (p.Asn205Asp)
NM_012414.4(RAB3GAP2):c.700C>G (p.Gln234Glu) rs2102877645
NM_012414.4(RAB3GAP2):c.701A>G (p.Gln234Arg)
NM_012414.4(RAB3GAP2):c.702G>C (p.Gln234His) rs1658954750
NM_012414.4(RAB3GAP2):c.745C>T (p.Pro249Ser)
NM_012414.4(RAB3GAP2):c.770G>T (p.Gly257Val)
NM_012414.4(RAB3GAP2):c.893C>T (p.Pro298Leu)
NM_012414.4(RAB3GAP2):c.898G>A (p.Ala300Thr)
NM_012448.4(STAT5B):c.1009C>A (p.Gln337Lys) rs2080191165
NM_012448.4(STAT5B):c.1030A>C (p.Thr344Pro) rs1598302816
NM_012448.4(STAT5B):c.1057C>T (p.Arg353Cys)
NM_012448.4(STAT5B):c.1090A>G (p.Met364Val) rs2144245550
NM_012448.4(STAT5B):c.1091T>C (p.Met364Thr) rs2144245532
NM_012448.4(STAT5B):c.1095C>G (p.Asn365Lys)
NM_012448.4(STAT5B):c.1100C>A (p.Pro367His) rs2080190307
NM_012448.4(STAT5B):c.1100C>T (p.Pro367Leu)
NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) rs2080189921
NM_012448.4(STAT5B):c.112A>C (p.Ile38Leu)
NM_012448.4(STAT5B):c.1155C>G (p.Asn385Lys)
NM_012448.4(STAT5B):c.1156G>A (p.Glu386Lys)
NM_012448.4(STAT5B):c.1170-3C>T
NM_012448.4(STAT5B):c.1208T>G (p.Met403Arg) rs2080181603
NM_012448.4(STAT5B):c.1247T>G (p.Phe416Cys) rs2080181180
NM_012448.4(STAT5B):c.1248C>T (p.Phe416=)
NM_012448.4(STAT5B):c.129-6C>T rs2080285302
NM_012448.4(STAT5B):c.1307C>G (p.Thr436Arg)
NM_012448.4(STAT5B):c.1307C>T (p.Thr436Ile) rs2080179591
NM_012448.4(STAT5B):c.1337C>T (p.Ser446Phe) rs1598301960
NM_012448.4(STAT5B):c.1346G>A (p.Ser449Asn) rs1598301952
NM_012448.4(STAT5B):c.135A>G (p.Ser45=)
NM_012448.4(STAT5B):c.1380+6G>A
NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile)
NM_012448.4(STAT5B):c.1408G>A (p.Val470Ile) rs1555548681
NM_012448.4(STAT5B):c.1424A>T (p.Asp475Val)
NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val) rs2080168730
NM_012448.4(STAT5B):c.1464T>G (p.Phe488Leu)
NM_012448.4(STAT5B):c.1474-9C>A
NM_012448.4(STAT5B):c.1498G>A (p.Asp500Asn)
NM_012448.4(STAT5B):c.1502A>G (p.Lys501Arg)
NM_012448.4(STAT5B):c.1552G>A (p.Glu518Lys) rs2080134439
NM_012448.4(STAT5B):c.155A>T (p.Gln52Leu)
NM_012448.4(STAT5B):c.1596C>A (p.Phe532Leu) rs1555548243
NM_012448.4(STAT5B):c.1605G>T (p.Gln535His)
NM_012448.4(STAT5B):c.1619A>G (p.Asn540Ser) rs2080133932
NM_012448.4(STAT5B):c.1645A>G (p.Ser549Gly)
NM_012448.4(STAT5B):c.1676A>C (p.Asn559Thr) rs2144224348
NM_012448.4(STAT5B):c.1681-5A>G rs2144219612
NM_012448.4(STAT5B):c.1690C>T (p.Pro564Ser)
NM_012448.4(STAT5B):c.1745A>G (p.Lys582Arg) rs374070270
NM_012448.4(STAT5B):c.1823T>C (p.Ile608Thr)
NM_012448.4(STAT5B):c.1845C>G (p.Phe615Leu) rs2080117529
NM_012448.4(STAT5B):c.1883C>G (p.Thr628Ser) rs774286856
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012448.4(STAT5B):c.1925A>G (p.Asn642Ser) rs2144211064
NM_012448.4(STAT5B):c.1942A>G (p.Thr648Ala)
NM_012448.4(STAT5B):c.1975C>T (p.Arg659Cys) rs1188688435
NM_012448.4(STAT5B):c.1976G>A (p.Arg659His)
NM_012448.4(STAT5B):c.2017C>T (p.Arg673Trp)
NM_012448.4(STAT5B):c.2056G>A (p.Val686Ile)
NM_012448.4(STAT5B):c.2063G>A (p.Cys688Tyr) rs2144210638
NM_012448.4(STAT5B):c.2064C>T (p.Cys688=) rs1221882000
NM_012448.4(STAT5B):c.2098G>T (p.Val700Leu) rs1567653213
NM_012448.4(STAT5B):c.20C>T (p.Ala7Val)
NM_012448.4(STAT5B):c.2129+16G>A rs753434378
NM_012448.4(STAT5B):c.2130-5T>A
NM_012448.4(STAT5B):c.2147C>T (p.Ala716Val)
NM_012448.4(STAT5B):c.2159G>T (p.Gly720Val)
NM_012448.4(STAT5B):c.2167G>A (p.Ala723Thr) rs929910807
NM_012448.4(STAT5B):c.2171C>T (p.Thr724Met)
NM_012448.4(STAT5B):c.2176A>G (p.Met726Val) rs1598292098
NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile) rs768971207
NM_012448.4(STAT5B):c.2185G>A (p.Ala729Thr) rs200042237
NM_012448.4(STAT5B):c.2195C>A (p.Pro732Gln)
NM_012448.4(STAT5B):c.2203T>C (p.Cys735Arg)
NM_012448.4(STAT5B):c.2209C>T (p.Gln737Ter)
NM_012448.4(STAT5B):c.2224A>G (p.Met742Val)
NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr) rs2080051897
NM_012448.4(STAT5B):c.2226G>A (p.Met742Ile)
NM_012448.4(STAT5B):c.2234A>T (p.Gln745Leu) rs2080051759
NM_012448.4(STAT5B):c.2242G>A (p.Asp748Asn) rs2144191866
NM_012448.4(STAT5B):c.2243A>T (p.Asp748Val)
NM_012448.4(STAT5B):c.2248G>C (p.Val750Leu)
NM_012448.4(STAT5B):c.2272G>A (p.Asp758Asn) rs1489641088
NM_012448.4(STAT5B):c.2275C>G (p.Leu759Val)
NM_012448.4(STAT5B):c.228G>C (p.Val76=)
NM_012448.4(STAT5B):c.2297C>T (p.Ala766Val)
NM_012448.4(STAT5B):c.2299C>T (p.Arg767Trp)
NM_012448.4(STAT5B):c.2302C>T (p.Arg768Cys)
NM_012448.4(STAT5B):c.2314C>T (p.Leu772Phe)
NM_012448.4(STAT5B):c.2333A>G (p.Asp778Gly)
NM_012448.4(STAT5B):c.2359T>C (p.Ser787Pro) rs547016204
NM_012448.4(STAT5B):c.285+6_285+11del
NM_012448.4(STAT5B):c.285G>A (p.Gln95=)
NM_012448.4(STAT5B):c.286-232C>T rs2080262047
NM_012448.4(STAT5B):c.290C>T (p.Thr97Met)
NM_012448.4(STAT5B):c.334A>T (p.Ile112Leu)
NM_012448.4(STAT5B):c.354G>T (p.Arg118Ser) rs2080259466
NM_012448.4(STAT5B):c.362G>T (p.Arg121Leu) rs758843144
NM_012448.4(STAT5B):c.375T>C (p.Asn125=) rs555285694
NM_012448.4(STAT5B):c.376-12A>G
NM_012448.4(STAT5B):c.379A>T (p.Ser127Cys)
NM_012448.4(STAT5B):c.392G>T (p.Gly131Val) rs2144267555
NM_012448.4(STAT5B):c.395G>A (p.Ser132Asn) rs1312195490
NM_012448.4(STAT5B):c.407C>A (p.Ala136Asp) rs2144267472
NM_012448.4(STAT5B):c.417G>A (p.Gln139=)
NM_012448.4(STAT5B):c.424C>T (p.Leu142Phe)
NM_012448.4(STAT5B):c.431T>A (p.Ile144Asn)
NM_012448.4(STAT5B):c.436C>G (p.Gln146Glu)
NM_012448.4(STAT5B):c.443T>C (p.Phe148Ser)
NM_012448.4(STAT5B):c.448G>A (p.Glu150Lys)
NM_012448.4(STAT5B):c.46C>T (p.His16Tyr)
NM_012448.4(STAT5B):c.48T>G (p.His16Gln)
NM_012448.4(STAT5B):c.500A>C (p.Gln167Pro) rs753748722
NM_012448.4(STAT5B):c.530A>G (p.Gln177Arg)
NM_012448.4(STAT5B):c.563C>A (p.Pro188Gln) rs143092033
NM_012448.4(STAT5B):c.59C>A (p.Ala20Glu)
NM_012448.4(STAT5B):c.644T>C (p.Leu215Ser) rs1430791171
NM_012448.4(STAT5B):c.677G>A (p.Arg226His) rs973881375
NM_012448.4(STAT5B):c.68G>A (p.Gly23Asp) rs2144296821
NM_012448.4(STAT5B):c.703A>C (p.Lys235Gln) rs1206601633
NM_012448.4(STAT5B):c.7G>A (p.Val3Met) rs144024535
NM_012448.4(STAT5B):c.814C>G (p.Leu272Val) rs2144250166
NM_012448.4(STAT5B):c.834-9C>G rs2080198101
NM_012448.4(STAT5B):c.863A>T (p.Gln288Leu)
NM_012448.4(STAT5B):c.869G>C (p.Arg290Pro) rs376599040
NM_012448.4(STAT5B):c.90G>A (p.Val30=) rs2144296728
NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp) rs2080321538
NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) rs2080196988
NM_012448.4(STAT5B):c.98A>G (p.Tyr33Cys)
NM_012448.4(STAT5B):c.992C>T (p.Thr331Met) rs753213429
NM_012463.4(ATP6V0A2):c.*1620T>A rs189881056
NM_012463.4(ATP6V0A2):c.*1950G>A rs1956794312
NM_012463.4(ATP6V0A2):c.*2161C>G rs886049071
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) rs139454557
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) rs886049061
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) rs780465961
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) rs1414004996
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) rs2135923855
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) rs1956303931
NM_012473.4(TXN2):c.376A>G (p.Ile126Val) rs141470075
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter) rs748973371
NM_013335.4(GMPPA):c.12G>A (p.Ala4=) rs1335428636
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala) rs1186293652
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
NM_013382.7(POMT2):c.*103C>T rs886050825
NM_013382.7(POMT2):c.*1043C>T rs373396403
NM_013382.7(POMT2):c.*1317A>G rs144329117
NM_013382.7(POMT2):c.*1317A>T rs144329117
NM_013382.7(POMT2):c.*1474G>A rs749841763
NM_013382.7(POMT2):c.*15T>C rs538140316
NM_013382.7(POMT2):c.*1610T>C rs886050814
NM_013382.7(POMT2):c.*1641C>T rs151201281
NM_013382.7(POMT2):c.*1734A>C rs1889915019
NM_013382.7(POMT2):c.*1774C>T rs1889911263
NM_013382.7(POMT2):c.*186C>G rs547018226
NM_013382.7(POMT2):c.*1906G>A rs1429067153
NM_013382.7(POMT2):c.*2077T>C rs1889895782
NM_013382.7(POMT2):c.*2080G>A rs1889895704
NM_013382.7(POMT2):c.*2093A>G rs528818473
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.*574T>C rs574135706
NM_013382.7(POMT2):c.*594G>A rs886050821
NM_013382.7(POMT2):c.*605C>G rs186897393
NM_013382.7(POMT2):c.*605C>T rs186897393
NM_013382.7(POMT2):c.-113G>A rs1891868176
NM_013382.7(POMT2):c.-136G>A rs1891870150
NM_013382.7(POMT2):c.-172C>A rs897215490
NM_013382.7(POMT2):c.-176C>G rs978645827
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser) rs1890916653
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1006C>A (p.His336Asn) rs765103940
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) rs371158744
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly) rs141339355
NM_013382.7(POMT2):c.1048A>G (p.Met350Val) rs749883166
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu) rs2140218751
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val) rs1890820771
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
NM_013382.7(POMT2):c.1117-12C>G rs535647699
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) rs2140195392
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) rs1594787166
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1254-3T>C rs766683771
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser) rs2140188544
NM_013382.7(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+8A>C
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala) rs780976004
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr) rs1890397099
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) rs1030338170
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) rs1891858162
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser) rs746000047
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu) rs727502856
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
NM_013382.7(POMT2):c.1484+1_1484+3dup rs1890389214
NM_013382.7(POMT2):c.1484+5G>A
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp) rs550420394
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) rs760413289
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) rs886042386
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile) rs886042386
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) rs1421956619
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr) rs767137783
NM_013382.7(POMT2):c.1576+10G>T rs756884609
NM_013382.7(POMT2):c.1576+5G>A rs2140182723
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val) rs2140179545
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.7(POMT2):c.1654-5T>G
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe) rs1890178718
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu) rs2140169524
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser) rs751918638
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu) rs910353997
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser) rs142870987
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys) rs142870987
NM_013382.7(POMT2):c.1725+13G>C rs1890173997
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His) rs2140167504
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
NM_013382.7(POMT2):c.1855A>G (p.Met619Val) rs1890143383
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) rs1594885046
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile) rs777708372
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser) rs111857094
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
NM_013382.7(POMT2):c.2022C>T (p.Ser674=) rs1566642798
NM_013382.7(POMT2):c.2023A>G (p.Met675Val) rs2140161882
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu) rs146367996
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val) rs2140160442
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr) rs2140157155
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) rs1890012951
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.7(POMT2):c.220C>T (p.His74Tyr) rs1398447748
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) rs1423335226
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu) rs1195398546
NM_013382.7(POMT2):c.242A>C (p.His81Pro) rs746662519
NM_013382.7(POMT2):c.242A>G (p.His81Arg) rs746662519
NM_013382.7(POMT2):c.248+5G>A
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu) rs1891452198
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) rs1891447838
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) rs1594800236
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) rs1891855792
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) rs758643051
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) rs1891164358
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
NM_013382.7(POMT2):c.547+14G>T rs1404659015
NM_013382.7(POMT2):c.547+5G>A rs773914478
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) rs1891099770
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.583C>G (p.Leu195Val) rs2139487023
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.587A>T (p.Asp196Val) rs745591622
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) rs750127630
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn) rs368906346
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
NM_013382.7(POMT2):c.657-3C>T rs2139480952
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg) rs2139551576
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
NM_013382.7(POMT2):c.745A>G (p.Ile249Val) rs1337866102
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly) rs760828168
NM_013382.7(POMT2):c.763C>G (p.Leu255Val) rs1048633441
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) rs1891021273
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala) rs1342953034
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) rs1890947139
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) rs1890946815
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg) rs2139473885
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro) rs1312138776
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
NM_013382.7(POMT2):c.90C>T (p.Gly30=) rs923004188
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
NM_013382.7(POMT2):c.923+5A>G
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
NM_013382.7(POMT2):c.985C>T (p.His329Tyr) rs2139470461
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
NM_013382.7(POMT2):c.997A>G (p.Ile333Val) rs1890917117
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu) rs140377449
NM_014026.6(DCPS):c.918G>C (p.Glu306Asp) rs1215363009
NM_014028.4(OSTM1):c.*1007G>A rs1053299538
NM_014028.4(OSTM1):c.*2276C>T rs546976371
NM_014028.4(OSTM1):c.*2364A>G rs60621815
NM_014028.4(OSTM1):c.*2487T>A rs981097901
NM_014028.4(OSTM1):c.*262C>G rs1771931979
NM_014028.4(OSTM1):c.*2707C>T rs1771876396
NM_014028.4(OSTM1):c.*2858A>G rs534652017
NM_014028.4(OSTM1):c.*291A>G rs886060970
NM_014028.4(OSTM1):c.*3280T>C rs1771868120
NM_014028.4(OSTM1):c.*778T>G rs756978751
NM_014028.4(OSTM1):c.*873A>G rs886060969
NM_014028.4(OSTM1):c.-52G>T rs886060974
NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) rs369188843
NM_014028.4(OSTM1):c.784-10C>G rs753191662
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787
NM_014028.4(OSTM1):c.950-12T>C rs886060972
NM_014042.3(ANAPC15):c.*96C>T rs1946187692
NM_014042.3(ANAPC15):c.121-110G>C rs886048640
NM_014042.3(ANAPC15):c.121-95G>A rs561162900
NM_014042.3(ANAPC15):c.180+131A>C rs932792064
NM_014053.4(FLVCR1):c.*1021A>G rs551356467
NM_014053.4(FLVCR1):c.*1246T>C rs1665339009
NM_014053.4(FLVCR1):c.*1880TAAA[10] rs141272551
NM_014053.4(FLVCR1):c.*1880TAAA[9] rs141272551
NM_014053.4(FLVCR1):c.*1952C>A rs886045938
NM_014053.4(FLVCR1):c.*2061CA[11] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[20] rs139242973
NM_014053.4(FLVCR1):c.*2495C>T rs1665380437
NM_014053.4(FLVCR1):c.*2591G>C rs904043805
NM_014053.4(FLVCR1):c.*2672_*2673del rs557446640
NM_014053.4(FLVCR1):c.*2704T>G rs1665384723
NM_014053.4(FLVCR1):c.*2949G>A rs756936130
NM_014053.4(FLVCR1):c.*3127_*3128insGATA rs1553266731
NM_014053.4(FLVCR1):c.*3129A>T rs202125545
NM_014053.4(FLVCR1):c.*326T>C rs1665314385
NM_014053.4(FLVCR1):c.*3337G>C rs1665402320
NM_014053.4(FLVCR1):c.*3598G>C rs886045944
NM_014053.4(FLVCR1):c.*3756C>T rs1175866801
NM_014053.4(FLVCR1):c.*384T>C rs886045931
NM_014053.4(FLVCR1):c.*422G>A rs1665316878
NM_014053.4(FLVCR1):c.*740T>G rs1665325309
NM_014053.4(FLVCR1):c.*785C>T rs1665326608
NM_014053.4(FLVCR1):c.*838CT[2] rs549002753
NM_014053.4(FLVCR1):c.*847T>C rs1665329642
NM_014053.4(FLVCR1):c.*855del rs752835859
NM_014053.4(FLVCR1):c.*855dup rs752835859
NM_014053.4(FLVCR1):c.-154G>T rs554048351
NM_014053.4(FLVCR1):c.-166G>C rs1664078764
NM_014053.4(FLVCR1):c.-168C>G rs1572000804
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg) rs1665115556
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu) rs1665131014
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val) rs767746826
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=) rs534403116
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=) rs886045924
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=) rs886045925
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg) rs886045926
NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)
NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala) rs1664320715
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu) rs886045927
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val) rs1294845921
NM_014168.4(METTL5):c.406+5G>A rs2105721464
NM_014168.4(METTL5):c.43C>T (p.Gln15Ter) rs1247557050
NM_014264.5(PLK4):c.176A>G (p.Asn59Ser) rs1734999708
NM_014321.4(ORC6):c.*10C>G rs1405213929
NM_014321.4(ORC6):c.*115T>G rs886052014
NM_014321.4(ORC6):c.*170C>G rs577189944
NM_014321.4(ORC6):c.*452C>T rs768042955
NM_014321.4(ORC6):c.*524A>G rs1287188674
NM_014321.4(ORC6):c.*578AGAT[6] rs568119196
NM_014321.4(ORC6):c.*598delinsAGATGGATAGATAGATAGATA rs886052017
NM_014321.4(ORC6):c.*599GATA[10] rs60635029
NM_014321.4(ORC6):c.*599GATA[11] rs60635029
NM_014321.4(ORC6):c.*599GATA[13] rs60635029
NM_014321.4(ORC6):c.*764_*767del rs756903337
NM_014321.4(ORC6):c.199del (p.Tyr67fs) rs1567273817
NM_014321.4(ORC6):c.682C>G (p.Leu228Val) rs768760107
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del) rs1200311161
NM_014363.6(SACS):c.*1039C>T rs1593117762
NM_014363.6(SACS):c.*1142G>A rs1883304820
NM_014363.6(SACS):c.*1162C>G rs1883303203
NM_014363.6(SACS):c.*1292A>T rs147476665
NM_014363.6(SACS):c.*716T>G rs1883326909
NM_014363.6(SACS):c.*919T>C rs1883315768
NM_014363.6(SACS):c.-502+2T>G rs1874525003
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met) rs780642116
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) rs1883623876
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) rs1555250217
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro) rs1883615724
NM_014363.6(SACS):c.10515A>C (p.Ser3505=) rs1883615412
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln) rs1883614344
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu) rs994425261
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro) rs150900362
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg) rs886050076
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg) rs1883577094
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del) rs2137570036
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile) rs1883575875
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala) rs2137566609
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
NM_014363.6(SACS):c.1173T>C (p.Ser391=) rs150683286
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn) rs1883504909
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr) rs1883497856
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=) rs1163399365
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) rs886050073
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu) rs779668584
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser) rs886050072
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) rs775817492
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly) rs951437363
NM_014363.6(SACS):c.13320G>A (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
NM_014363.6(SACS):c.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) rs757326594
NM_014363.6(SACS):c.13512A>G (p.Ala4504=) rs886050070
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys) rs2137547970
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe) rs1555254306
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1593C>G (p.Ile531Met) rs113756713
NM_014363.6(SACS):c.1627G>A (p.Val543Met) rs752705095
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) rs764516069
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln) rs2137645971
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro) rs2137645971
NM_014363.6(SACS):c.2322A>G (p.Pro774=) rs1869225328
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.25G>A (p.Val9Ile) rs939705811
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) rs2137641417
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) rs139993038
NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) rs1555252742
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu) rs1869134973
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr) rs764812936
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) rs1202128043
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3429A>G (p.Gln1143=) rs1869096503
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) rs886050086
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.3992A>G (p.His1331Arg) rs1869039514
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del) rs755941308
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe) rs961377840
NM_014363.6(SACS):c.4268A>G (p.His1423Arg) rs2137629036
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr) rs2137627792
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.5043C>T (p.His1681=) rs1868915593
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) rs1555252172
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) rs758381112
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) rs775922113
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg) rs1868850876
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser) rs1868847058
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu) rs1329947939
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp) rs2137615220
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) rs1555251980
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr) rs2137613081
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val) rs758895050
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly) rs1234193312
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr) rs2137612456
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) rs1555251880
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) rs886050084
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys) rs1555251719
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) rs1044714793
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu) rs886050083
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg) rs1190128123
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) rs1555251650
NM_014363.6(SACS):c.6844T>C (p.Leu2282=) rs1868678889
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr) rs1868664491
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp) rs1868637796
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys) rs2137600321
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) rs777424692
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) rs2137599038
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) rs750491874
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly) rs1868573738
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7795G>C (p.Asp2599His) rs1868563918
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.827G>A (p.Arg276His)
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) rs886050080
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) rs1868466055
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala) rs1566062448
NM_014363.6(SACS):c.8802C>T (p.Phe2934=) rs1868452276
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr) rs1868444121
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala) rs2137587151
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile) rs1883687760
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly) rs1883670937
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287
NM_014363.6(SACS):c.9912C>T (p.Leu3304=) rs1593124372
NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe) rs1436155983
NM_014425.5(INVS):c.*158T>C rs1833944803
NM_014425.5(INVS):c.*323A>T rs1833949389
NM_014425.5(INVS):c.*352A>T rs1481868199
NM_014425.5(INVS):c.*415A>G rs1833951689
NM_014425.5(INVS):c.*466CA[18] rs10527613
NM_014425.5(INVS):c.*466CA[19] rs10527613
NM_014425.5(INVS):c.*466CA[21] rs10527613
NM_014425.5(INVS):c.*466CA[23] rs10527613
NM_014425.5(INVS):c.*466_*467insTCAC rs200314659
NM_014425.5(INVS):c.*466_*467insTCACAC rs200314659
NM_014425.5(INVS):c.*98A>G rs886063274
NM_014425.5(INVS):c.-178G>A rs886063263
NM_014425.5(INVS):c.1006G>A (p.Asp336Asn) rs760384200
NM_014425.5(INVS):c.1022T>G (p.Met341Arg) rs1397165748
NM_014425.5(INVS):c.104T>C (p.Val35Ala)
NM_014425.5(INVS):c.106+3A>C rs1827113455
NM_014425.5(INVS):c.106+6C>T rs1196750401
NM_014425.5(INVS):c.1099T>C (p.Ser367Pro)
NM_014425.5(INVS):c.1128A>T (p.Leu376Phe) rs2118559115
NM_014425.5(INVS):c.1135A>G (p.Asn379Asp) rs1832262518
NM_014425.5(INVS):c.1171C>T (p.His391Tyr) rs1181379253
NM_014425.5(INVS):c.1174A>G (p.Thr392Ala)
NM_014425.5(INVS):c.1189G>A (p.Ala397Thr)
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1200G>A (p.Met400Ile)
NM_014425.5(INVS):c.1208A>G (p.Lys403Arg) rs1564176658
NM_014425.5(INVS):c.1223C>T (p.Thr408Ile)
NM_014425.5(INVS):c.1255G>C (p.Val419Leu) rs2118562526
NM_014425.5(INVS):c.127_129del (p.Lys43del) rs757721719
NM_014425.5(INVS):c.1297G>A (p.Gly433Arg) rs2118562856
NM_014425.5(INVS):c.1315T>G (p.Cys439Gly)
NM_014425.5(INVS):c.1321A>C (p.Ile441Leu) rs1832286801
NM_014425.5(INVS):c.1342A>G (p.Asn448Asp) rs2118563086
NM_014425.5(INVS):c.1345C>T (p.Pro449Ser) rs753443905
NM_014425.5(INVS):c.1346C>T (p.Pro449Leu) rs1832287614
NM_014425.5(INVS):c.1355A>C (p.Gln452Pro) rs2118563198
NM_014425.5(INVS):c.1396G>A (p.Gly466Arg) rs1554726564
NM_014425.5(INVS):c.1399G>C (p.Gly467Arg) rs2118563520
NM_014425.5(INVS):c.1420G>A (p.Val474Ile)
NM_014425.5(INVS):c.1423C>T (p.Leu475Phe)
NM_014425.5(INVS):c.1429G>A (p.Glu477Lys) rs1832291428
NM_014425.5(INVS):c.1464+1G>A rs375753623
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu) rs1015507237
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.1479G>C (p.Leu493Phe)
NM_014425.5(INVS):c.1492A>T (p.Asn498Tyr) rs1832737510
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.149C>T (p.Thr50Ile)
NM_014425.5(INVS):c.1508A>T (p.Asp503Val) rs1832737838
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879
NM_014425.5(INVS):c.1547A>G (p.Asn516Ser)
NM_014425.5(INVS):c.1548T>G (p.Asn516Lys)
NM_014425.5(INVS):c.1561A>C (p.Asn521His) rs2118629746
NM_014425.5(INVS):c.1571+2dup rs1554728033
NM_014425.5(INVS):c.1571+5G>A rs1832740394
NM_014425.5(INVS):c.1576A>G (p.Thr526Ala) rs1050540680
NM_014425.5(INVS):c.1584T>A (p.Leu528=) rs1832998425
NM_014425.5(INVS):c.158T>C (p.Met53Thr) rs748223529
NM_014425.5(INVS):c.1604A>G (p.Glu535Gly) rs1832999071
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1667A>C (p.Asp556Ala)
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1672G>A (p.Ala558Thr)
NM_014425.5(INVS):c.1712T>C (p.Val571Ala) rs1236753815
NM_014425.5(INVS):c.1774G>C (p.Ala592Pro)
NM_014425.5(INVS):c.1784+6T>C
NM_014425.5(INVS):c.1784A>C (p.Lys595Thr) rs2118669515
NM_014425.5(INVS):c.1785-14G>A rs2118724157
NM_014425.5(INVS):c.178A>G (p.Arg60Gly) rs886038603
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln) rs372596288
NM_014425.5(INVS):c.1837C>T (p.Arg613Trp) rs529208660
NM_014425.5(INVS):c.1865C>T (p.Ala622Val)
NM_014425.5(INVS):c.1882A>T (p.Ser628Cys)
NM_014425.5(INVS):c.1899CAG[1] (p.Ser634del) rs886063267
NM_014425.5(INVS):c.1903A>G (p.Arg635Gly)
NM_014425.5(INVS):c.1916C>A (p.Ala639Asp) rs886063268
NM_014425.5(INVS):c.194A>G (p.Asp65Gly)
NM_014425.5(INVS):c.1990G>A (p.Gly664Arg) rs1397635177
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
NM_014425.5(INVS):c.1994C>T (p.Ser665Phe) rs533008444
NM_014425.5(INVS):c.2002G>A (p.Gly668Arg) rs764384987
NM_014425.5(INVS):c.2008C>T (p.Leu670Phe) rs754291892
NM_014425.5(INVS):c.2027T>A (p.Val676Asp) rs967224963
NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)
NM_014425.5(INVS):c.2065A>C (p.Asn689His) rs1355652364
NM_014425.5(INVS):c.2088T>C (p.Ser696=)
NM_014425.5(INVS):c.2098T>C (p.Ser700Pro) rs1833645195
NM_014425.5(INVS):c.2102C>G (p.Ala701Gly)
NM_014425.5(INVS):c.2119C>T (p.Pro707Ser)
NM_014425.5(INVS):c.2123A>G (p.Asn708Ser) rs770047072
NM_014425.5(INVS):c.2143A>G (p.Arg715Gly) rs766691188
NM_014425.5(INVS):c.2149C>A (p.Pro717Thr)
NM_014425.5(INVS):c.2152G>C (p.Gly718Arg) rs1554730698
NM_014425.5(INVS):c.2173T>C (p.Ser725Pro)
NM_014425.5(INVS):c.2185A>C (p.Thr729Pro)
NM_014425.5(INVS):c.2185A>G (p.Thr729Ala)
NM_014425.5(INVS):c.2219G>T (p.Gly740Val)
NM_014425.5(INVS):c.2232G>C (p.Gln744His) rs748241492
NM_014425.5(INVS):c.2240G>A (p.Cys747Tyr)
NM_014425.5(INVS):c.2254G>A (p.Gly752Arg)
NM_014425.5(INVS):c.2299C>T (p.Leu767Phe)
NM_014425.5(INVS):c.2306C>T (p.Pro769Leu)
NM_014425.5(INVS):c.2334G>C (p.Arg778Ser)
NM_014425.5(INVS):c.2340T>A (p.His780Gln)
NM_014425.5(INVS):c.2350C>T (p.Pro784Ser) rs772382992
NM_014425.5(INVS):c.2351C>T (p.Pro784Leu) rs1401794025
NM_014425.5(INVS):c.2361A>G (p.Lys787=)
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870
NM_014425.5(INVS):c.2414C>T (p.Pro805Leu) rs750979976
NM_014425.5(INVS):c.2441C>T (p.Ala814Val) rs886063269
NM_014425.5(INVS):c.2447G>T (p.Gly816Val)
NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) rs886063270
NM_014425.5(INVS):c.2520C>T (p.Leu840=) rs1833665397
NM_014425.5(INVS):c.2522C>G (p.Thr841Arg) rs1833665476
NM_014425.5(INVS):c.2530C>T (p.Leu844Phe) rs2118763419
NM_014425.5(INVS):c.2540A>G (p.His847Arg)
NM_014425.5(INVS):c.2543T>C (p.Leu848Ser) rs2118763519
NM_014425.5(INVS):c.2557GAG[1] (p.Glu854del)
NM_014425.5(INVS):c.256C>G (p.His86Asp)
NM_014425.5(INVS):c.2576C>G (p.Ala859Gly)
NM_014425.5(INVS):c.2605G>A (p.Glu869Lys)
NM_014425.5(INVS):c.2610C>G (p.Asp870Glu)
NM_014425.5(INVS):c.2630C>T (p.Thr877Ile) rs1411773135
NM_014425.5(INVS):c.2647C>A (p.Pro883Thr) rs1833670830
NM_014425.5(INVS):c.2679_2681del (p.Leu894del) rs1833672293
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.2686G>C (p.Val896Leu) rs114847355
NM_014425.5(INVS):c.269A>G (p.Gln90Arg) rs1827890162
NM_014425.5(INVS):c.2720G>T (p.Arg907Leu) rs781064013
NM_014425.5(INVS):c.2722A>G (p.Arg908Gly) rs1430951841
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.273+5G>A rs1195767279
NM_014425.5(INVS):c.2752A>G (p.Lys918Glu)
NM_014425.5(INVS):c.2772G>T (p.Gln924His)
NM_014425.5(INVS):c.2779T>A (p.Trp927Arg)
NM_014425.5(INVS):c.2794C>T (p.Leu932Phe) rs2118781536
NM_014425.5(INVS):c.2805C>A (p.His935Gln) rs1265354401
NM_014425.5(INVS):c.2818C>G (p.Arg940Gly)
NM_014425.5(INVS):c.2818C>T (p.Arg940Trp)
NM_014425.5(INVS):c.2822A>C (p.His941Pro) rs886042226
NM_014425.5(INVS):c.2822A>G (p.His941Arg) rs886042226
NM_014425.5(INVS):c.2822A>T (p.His941Leu) rs886042226
NM_014425.5(INVS):c.2834T>A (p.Leu945His) rs757927270
NM_014425.5(INVS):c.2834T>C (p.Leu945Pro) rs757927270
NM_014425.5(INVS):c.2861G>A (p.Arg954Lys) rs2118781948
NM_014425.5(INVS):c.2866G>A (p.Glu956Lys)
NM_014425.5(INVS):c.2874A>G (p.Thr958=) rs886063271
NM_014425.5(INVS):c.2903A>C (p.Glu968Ala) rs1366429329
NM_014425.5(INVS):c.2905C>G (p.Leu969Val) rs1833811478
NM_014425.5(INVS):c.2935G>A (p.Val979Ile)
NM_014425.5(INVS):c.2941A>G (p.Lys981Glu) rs1833812606
NM_014425.5(INVS):c.2947C>G (p.Pro983Ala) rs2118782522
NM_014425.5(INVS):c.2984C>A (p.Ser995Tyr)
NM_014425.5(INVS):c.2986A>G (p.Thr996Ala)
NM_014425.5(INVS):c.2995T>C (p.Ser999Pro) rs1833814101
NM_014425.5(INVS):c.3017GTT[1] (p.Cys1007del)
NM_014425.5(INVS):c.3038T>G (p.Ile1013Arg) rs1833838349
NM_014425.5(INVS):c.3044A>T (p.His1015Leu) rs2118786271
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys) rs886063272
NM_014425.5(INVS):c.3085A>G (p.Asn1029Asp)
NM_014425.5(INVS):c.3092-11_3092-6del rs1245384768
NM_014425.5(INVS):c.3128G>A (p.Ser1043Asn)
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup) rs778453251
NM_014425.5(INVS):c.3182A>C (p.Asn1061Thr)
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.3185A>G (p.Lys1062Arg) rs758703044
NM_014425.5(INVS):c.3189_3193dup (p.Pro1065fs)
NM_014425.5(INVS):c.3193C>G (p.Pro1065Ala)
NM_014425.5(INVS):c.319T>C (p.Trp107Arg)
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.342G>C (p.Glu114Asp)
NM_014425.5(INVS):c.349C>T (p.Pro117Ser) rs1021818693
NM_014425.5(INVS):c.371A>G (p.His124Arg) rs1251662430
NM_014425.5(INVS):c.406T>A (p.Phe136Ile) rs1831314008
NM_014425.5(INVS):c.410T>C (p.Met137Thr) rs375209595
NM_014425.5(INVS):c.431C>T (p.Thr144Ile)
NM_014425.5(INVS):c.461A>G (p.His154Arg) rs1386694263
NM_014425.5(INVS):c.469G>A (p.Ala157Thr) rs1831445347
NM_014425.5(INVS):c.476A>G (p.Tyr159Cys) rs2118428051
NM_014425.5(INVS):c.487G>C (p.Glu163Gln) rs1831445837
NM_014425.5(INVS):c.491A>G (p.His164Arg) rs1831445914
NM_014425.5(INVS):c.536A>T (p.Asp179Val)
NM_014425.5(INVS):c.564G>A (p.Trp188Ter) rs1564167474
NM_014425.5(INVS):c.582T>A (p.Asp194Glu) rs2118429045
NM_014425.5(INVS):c.615G>C (p.Leu205=) rs140664868
NM_014425.5(INVS):c.67G>C (p.Val23Leu) rs145303373
NM_014425.5(INVS):c.6C>A (p.Asn2Lys) rs1827109471
NM_014425.5(INVS):c.722C>T (p.Thr241Ile) rs1248564172
NM_014425.5(INVS):c.772C>T (p.Pro258Ser) rs866679782
NM_014425.5(INVS):c.773C>G (p.Pro258Arg)
NM_014425.5(INVS):c.775C>T (p.Leu259=) rs886063264
NM_014425.5(INVS):c.832A>G (p.Asn278Asp)
NM_014425.5(INVS):c.832A>T (p.Asn278Tyr)
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014425.5(INVS):c.907-13dup rs750082874
NM_014425.5(INVS):c.907-3C>T
NM_014425.5(INVS):c.914T>G (p.Val305Gly)
NM_014425.5(INVS):c.916A>G (p.Lys306Glu) rs878854981
NM_014425.5(INVS):c.92A>G (p.Gln31Arg) rs1003287751
NM_014425.5(INVS):c.985G>T (p.Ala329Ser) rs1212648125
NM_014425.5(INVS):c.986C>A (p.Ala329Glu) rs1202806202
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala) rs1451522942
NM_014687.4(RUBCN):c.1262-1G>C
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
NM_014687.4(RUBCN):c.1474-5G>T
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly) rs2108833855
NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro) rs771116194
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro) rs2141175065
NM_014739.3(BCLAF1):c.-114-2_-114-1insC rs1784536674
NM_014780.4(CUL7):c.2767_2789delGTGAATGTGATGCCCTCTGCCAG
NM_014780.5(CUL7):c.-186A>C rs1159816166
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) rs1561894798
NM_014780.5(CUL7):c.1101T>C (p.Asn367=) rs1764361426
NM_014780.5(CUL7):c.140G>T (p.Arg47Leu) rs535734678
NM_014780.5(CUL7):c.1417G>A (p.Val473Met) rs1764269879
NM_014780.5(CUL7):c.1513G>A (p.Asp505Asn) rs886061419
NM_014780.5(CUL7):c.1569+76G>C
NM_014780.5(CUL7):c.1651C>T (p.Leu551Phe) rs905431266
NM_014780.5(CUL7):c.167G>T (p.Gly56Val)
NM_014780.5(CUL7):c.213G>C (p.Lys71Asn) rs1764513779
NM_014780.5(CUL7):c.2169+5C>T rs886061418
NM_014780.5(CUL7):c.2381T>G (p.Leu794Arg) rs1763962099
NM_014780.5(CUL7):c.2434C>T (p.His812Tyr) rs1561885852
NM_014780.5(CUL7):c.2438_2439delinsGG (p.Gln813Arg) rs61748654
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) rs147452416
NM_014780.5(CUL7):c.2583C>G (p.Pro861=) rs1763899878
NM_014780.5(CUL7):c.2754G>T (p.Thr918=) rs138777262
NM_014780.5(CUL7):c.3027C>T (p.His1009=) rs886061416
NM_014780.5(CUL7):c.3847T>C (p.Trp1283Arg)
NM_014780.5(CUL7):c.3902C>G (p.Pro1301Arg) rs766640818
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) rs774299493
NM_014780.5(CUL7):c.4406A>G (p.Gln1469Arg) rs1561871681
NM_014780.5(CUL7):c.4504A>T (p.Ile1502Phe) rs1188969387
NM_014780.5(CUL7):c.4683G>A (p.Glu1561=) rs886061415
NM_014780.5(CUL7):c.4848C>A (p.Cys1616Ter) rs149214556
NM_014780.5(CUL7):c.5029_5030del (p.Gln1677fs)
NM_014780.5(CUL7):c.5041C>G (p.Arg1681Gly) rs375165020
NM_014780.5(CUL7):c.533G>T (p.Arg178Leu) rs183865568
NM_014780.5(CUL7):c.60C>T (p.Ala20=) rs1764530830
NM_014780.5(CUL7):c.733-12T>G rs755447863
NM_014780.5(CUL7):c.922G>T (p.Val308Leu) rs1064795325
NM_014797.3(ZBTB24):c.1033A>G (p.Thr345Ala) rs2115362083
NM_014797.3(ZBTB24):c.1039G>A (p.Glu347Lys)
NM_014797.3(ZBTB24):c.103T>A (p.Phe35Ile)
NM_014797.3(ZBTB24):c.1058C>T (p.Thr353Ile) rs2115362049
NM_014797.3(ZBTB24):c.1072G>T (p.Ala358Ser)
NM_014797.3(ZBTB24):c.1085A>G (p.Lys362Arg)
NM_014797.3(ZBTB24):c.109T>C (p.Cys37Arg) rs1562305271
NM_014797.3(ZBTB24):c.1133T>C (p.Phe378Ser) rs746455372
NM_014797.3(ZBTB24):c.11C>T (p.Thr4Ile) rs2115367617
NM_014797.3(ZBTB24):c.1202C>T (p.Thr401Ile) rs1776274830
NM_014797.3(ZBTB24):c.1205-7C>T
NM_014797.3(ZBTB24):c.1235A>T (p.His412Leu) rs548726702
NM_014797.3(ZBTB24):c.1249G>A (p.Asp417Asn) rs2115360895
NM_014797.3(ZBTB24):c.1310A>C (p.Glu437Ala)
NM_014797.3(ZBTB24):c.1329C>G (p.Phe443Leu) rs1170480622
NM_014797.3(ZBTB24):c.1340G>A (p.Ser447Asn)
NM_014797.3(ZBTB24):c.134A>G (p.Asn45Ser) rs2115367485
NM_014797.3(ZBTB24):c.135T>G (p.Asn45Lys)
NM_014797.3(ZBTB24):c.1399T>A (p.Cys467Ser)
NM_014797.3(ZBTB24):c.1421C>T (p.Ser474Phe)
NM_014797.3(ZBTB24):c.1444A>G (p.Ile482Val)
NM_014797.3(ZBTB24):c.1465C>G (p.Pro489Ala)
NM_014797.3(ZBTB24):c.1480G>A (p.Glu494Lys)
NM_014797.3(ZBTB24):c.1538G>A (p.Ser513Asn) rs774600416
NM_014797.3(ZBTB24):c.1553C>G (p.Ala518Gly) rs1042762656
NM_014797.3(ZBTB24):c.1583G>A (p.Ser528Asn) rs768489629
NM_014797.3(ZBTB24):c.158C>T (p.Ala53Val)
NM_014797.3(ZBTB24):c.1602G>C (p.Arg534Ser) rs745492894
NM_014797.3(ZBTB24):c.1642G>C (p.Gly548Arg)
NM_014797.3(ZBTB24):c.1676C>G (p.Ser559Cys) rs1776038792
NM_014797.3(ZBTB24):c.1681C>T (p.His561Tyr)
NM_014797.3(ZBTB24):c.1685A>C (p.Asn562Thr) rs2115353269
NM_014797.3(ZBTB24):c.1753A>T (p.Thr585Ser) rs1776035641
NM_014797.3(ZBTB24):c.1762C>A (p.Gln588Lys)
NM_014797.3(ZBTB24):c.1774C>T (p.Leu592Phe) rs1776035047
NM_014797.3(ZBTB24):c.1786A>G (p.Thr596Ala)
NM_014797.3(ZBTB24):c.1811A>G (p.Asn604Ser) rs767566292
NM_014797.3(ZBTB24):c.1849A>G (p.Ile617Val)
NM_014797.3(ZBTB24):c.1856G>A (p.Ser619Asn)
NM_014797.3(ZBTB24):c.1867A>G (p.Ile623Val) rs1030593144
NM_014797.3(ZBTB24):c.1889C>T (p.Ser630Leu) rs1776031803
NM_014797.3(ZBTB24):c.1903G>A (p.Val635Met)
NM_014797.3(ZBTB24):c.1925A>G (p.Lys642Arg) rs754717708
NM_014797.3(ZBTB24):c.1936G>A (p.Glu646Lys) rs1776030137
NM_014797.3(ZBTB24):c.1946A>G (p.His649Arg)
NM_014797.3(ZBTB24):c.1949C>A (p.Ala650Asp)
NM_014797.3(ZBTB24):c.1984A>G (p.Thr662Ala) rs574657385
NM_014797.3(ZBTB24):c.2025G>C (p.Gln675His) rs2115352900
NM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)
NM_014797.3(ZBTB24):c.2066C>T (p.Pro689Leu)
NM_014797.3(ZBTB24):c.2094A>G (p.Ter698Trp) rs1554227574
NM_014797.3(ZBTB24):c.22C>G (p.Pro8Ala)
NM_014797.3(ZBTB24):c.233T>A (p.Met78Lys) rs768303189
NM_014797.3(ZBTB24):c.251C>G (p.Ala84Gly)
NM_014797.3(ZBTB24):c.267C>G (p.Ile89Met) rs1776422013
NM_014797.3(ZBTB24):c.309G>C (p.Glu103Asp)
NM_014797.3(ZBTB24):c.332C>T (p.Ala111Val)
NM_014797.3(ZBTB24):c.337G>C (p.Ala113Pro)
NM_014797.3(ZBTB24):c.367A>G (p.Lys123Glu)
NM_014797.3(ZBTB24):c.376A>G (p.Thr126Ala) rs377645525
NM_014797.3(ZBTB24):c.442GTT[1] (p.Val149del)
NM_014797.3(ZBTB24):c.452C>G (p.Ser151Cys)
NM_014797.3(ZBTB24):c.4G>T (p.Ala2Ser)
NM_014797.3(ZBTB24):c.506A>G (p.Asn169Ser)
NM_014797.3(ZBTB24):c.509C>T (p.Thr170Ile)
NM_014797.3(ZBTB24):c.517GAG[1] (p.Glu174del)
NM_014797.3(ZBTB24):c.544GAA[1] (p.Glu183del) rs2115366899
NM_014797.3(ZBTB24):c.607G>C (p.Asp203His) rs2115366792
NM_014797.3(ZBTB24):c.637G>A (p.Ala213Thr) rs1776409512
NM_014797.3(ZBTB24):c.665C>T (p.Thr222Ile) rs1776408526
NM_014797.3(ZBTB24):c.668G>A (p.Cys223Tyr)
NM_014797.3(ZBTB24):c.679A>G (p.Arg227Gly)
NM_014797.3(ZBTB24):c.719A>T (p.Asp240Val)
NM_014797.3(ZBTB24):c.730G>A (p.Glu244Lys) rs113516976
NM_014797.3(ZBTB24):c.745A>C (p.Ser249Arg) rs1776405737
NM_014797.3(ZBTB24):c.746G>A (p.Ser249Asn) rs759148236
NM_014797.3(ZBTB24):c.808G>A (p.Val270Ile) rs1044622834
NM_014797.3(ZBTB24):c.826C>G (p.His276Asp) rs774946276
NM_014797.3(ZBTB24):c.851G>A (p.Gly284Glu) rs2115366446
NM_014797.3(ZBTB24):c.855G>T (p.Arg285Ser) rs143216162
NM_014797.3(ZBTB24):c.85G>A (p.Asp29Asn) rs1187559235
NM_014797.3(ZBTB24):c.863G>A (p.Arg288His)
NM_014797.3(ZBTB24):c.869_877del (p.Gly290_Pro292del)
NM_014797.3(ZBTB24):c.875C>T (p.Pro292Leu) rs1191178280
NM_014797.3(ZBTB24):c.889A>G (p.Lys297Glu) rs2115366344
NM_014797.3(ZBTB24):c.898G>A (p.Gly300Ser) rs2115366334
NM_014797.3(ZBTB24):c.899G>A (p.Gly300Asp) rs2115366329
NM_014797.3(ZBTB24):c.904G>A (p.Val302Ile) rs1448560892
NM_014797.3(ZBTB24):c.917A>G (p.Asn306Ser)
NM_014797.3(ZBTB24):c.943A>G (p.Ser315Gly) rs759942793
NM_014797.3(ZBTB24):c.947A>G (p.His316Arg)
NM_014797.3(ZBTB24):c.952+6G>A rs1776397526
NM_014797.3(ZBTB24):c.99A>T (p.Lys33Asn) rs760806722
NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)
NM_014806.5(RUSC2):c.1525G>C (p.Val509Leu)
NM_014806.5(RUSC2):c.1538C>T (p.Ser513Leu)
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile) rs762004622
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys) rs1563876680
NM_014806.5(RUSC2):c.567C>A (p.His189Gln) rs1030373633
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr) rs1821748484
NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile) rs576859525
NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)
NM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val) rs1946356525
NM_014875.3(KIF14):c.1570C>G (p.His524Asp) rs1659904063
NM_014875.3(KIF14):c.1979+2C>T
NM_014875.3(KIF14):c.3127C>T (p.His1043Tyr) rs763872222
NM_014875.3(KIF14):c.3136C>T (p.Arg1046Cys)
NM_014875.3(KIF14):c.4247C>A (p.Ala1416Asp) rs372382009
NM_014875.3(KIF14):c.4353+7T>A
NM_014889.4(PITRM1):c.1634G>A (p.Arg545Gln)
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) rs1320280755
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) rs1596419433
NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly)
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly) rs370806474
NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His)
NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val)
NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg)
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) rs2039108667
NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)
NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)
NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly)
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)
NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala) rs2039108011
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp) rs747715647
NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser) rs773030000
NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)
NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn)
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg) rs2038208535
NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) rs556065115
NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly) rs960887600
NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser)
NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln)
NM_014918.5(CHSY1):c.469C>G (p.His157Asp)
NM_014918.5(CHSY1):c.469C>T (p.His157Tyr) rs2141275520
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile)
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) rs138311444
NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys)
NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp)
NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe)
NM_014918.5(CHSY1):c.691G>T (p.Val231Leu) rs2038928981
NM_014918.5(CHSY1):c.727C>G (p.Leu243Val)
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly) rs2038235884
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro) rs760263900
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) rs1596419735
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) rs774636195
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala) rs2042173963
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly) rs775902514
NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu) rs760829793
NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly) rs2135917595
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup) rs2042177715
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys) rs2135917914
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp) rs748917124
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr) rs2042180668
NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro) rs2042181037
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn) rs374832717
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg) rs550044351
NM_014956.5(CEP164):c.1152+2dup rs1592221277
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys) rs2135971658
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile) rs759452273
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp) rs1394172852
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn) rs2042669971
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser) rs2042670551
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln) rs2038553739
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly) rs2136011109
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe) rs2042677558
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro) rs143370558
NM_014956.5(CEP164):c.1317+3G>A rs886038607
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly) rs2136117768
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala) rs2136118190
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys) rs2043218577
NM_014956.5(CEP164):c.1409+3A>T
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys) rs1565542472
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg) rs1277555628
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val) rs868163339
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys) rs757278608
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln) rs2136140136
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser) rs114396665
NM_014956.5(CEP164):c.1496A>G (p.Glu499Gly)
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val) rs1293561746
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe) rs2043350919
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr) rs997835172
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe) rs997835172
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr) rs112527080
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg) rs758286092
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala) rs200464405
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu) rs1053615798
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)
NM_014956.5(CEP164):c.1670A>C (p.Glu557Ala)
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del) rs771007283
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu) rs757579833
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly) rs2136244485
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr) rs758890143
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala) rs865780691
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln) rs1565560519
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly) rs2136244992
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)
NM_014956.5(CEP164):c.1781C>G (p.Ala594Gly)
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser) rs150956860
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)
NM_014956.5(CEP164):c.1903C>T (p.Arg635Trp)
NM_014956.5(CEP164):c.1909C>A (p.His637Asn) rs2044090246
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys) rs2044090670
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp) rs1435675301
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe) rs2136247338
NM_014956.5(CEP164):c.194+15G>T rs1423887740
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)
NM_014956.5(CEP164):c.195-10C>A
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys) rs746865666
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del) rs1393409770
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro) rs776074093
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys) rs1332049981
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp) rs778301430
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr) rs2136323032
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val) rs2136323172
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys) rs2136324049
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val) rs763926600
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg) rs757911593
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr) rs1565578311
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly) rs2039670463
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)
NM_014956.5(CEP164):c.2362G>A (p.Val788Met) rs2044795731
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)
NM_014956.5(CEP164):c.2490C>G (p.His830Gln) rs532278621
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)
NM_014956.5(CEP164):c.2501G>C (p.Ser834Thr)
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp) rs1395693893
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)
NM_014956.5(CEP164):c.2519G>A (p.Arg840His) rs201901144
NM_014956.5(CEP164):c.2527G>A (p.Val843Met) rs566117718
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr) rs371143032
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)
NM_014956.5(CEP164):c.2616+5C>G rs2136378582
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val) rs2045131646
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg) rs752659513
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln) rs1387200155
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)
NM_014956.5(CEP164):c.272A>G (p.His91Arg) rs2039675348
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly) rs541217768
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu) rs550799764
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro) rs748681315
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu) rs958659489
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly) rs374045323
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr) rs749310077
NM_014956.5(CEP164):c.2834_2844+13dup rs765251449
NM_014956.5(CEP164):c.2844+5G>C rs2136434803
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp) rs767099855
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly) rs2045276386
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)
NM_014956.5(CEP164):c.2889G>T (p.Gln963His) rs2045277340
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup) rs2045276879
NM_014956.5(CEP164):c.28G>C (p.Asp10His) rs2135058109
NM_014956.5(CEP164):c.2913+4T>G
NM_014956.5(CEP164):c.2913G>A (p.Glu971=) rs2136439892
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr) rs1251181865
NM_014956.5(CEP164):c.2965C>A (p.His989Asn) rs2045329063
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)
NM_014956.5(CEP164):c.2988G>T (p.Gln996His) rs1565593444
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val) rs2136452126
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly) rs115387935
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln) rs138868323
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His) rs1281977880
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu) rs2045343660
NM_014956.5(CEP164):c.3089+5C>T
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr) rs2045343883
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys) rs2045422580
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser) rs2136466815
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe) rs2136467124
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr) rs2136467201
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys) rs2136482246
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln) rs911561261
NM_014956.5(CEP164):c.3278+5G>A rs1382315277
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr) rs764825500
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala) rs1455570319
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro) rs144910893
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu) rs753895198
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu) rs2136502331
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His) rs143802594
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu) rs143802594
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly) rs2136503745
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)
NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)
NM_014956.5(CEP164):c.347A>T (p.Lys116Met) rs867484690
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys) rs138487235
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn) rs2136505455
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val) rs772378117
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp) rs2136880769
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val) rs2046909808
NM_014956.5(CEP164):c.3609+2_3609+5dup
NM_014956.5(CEP164):c.3609+4C>T
NM_014956.5(CEP164):c.3609+9C>G
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe) rs2047007327
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg) rs2047009414
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser) rs1565634414
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly) rs2135446465
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys) rs375184395
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly) rs2135446492
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser) rs745898523
NM_014956.5(CEP164):c.3722A>T (p.His1241Leu)
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His) rs775665636
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys) rs2047016520
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser) rs1458226426
NM_014956.5(CEP164):c.3749-5_3761dup rs2136932910
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn) rs1270766012
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del) rs752854208
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg) rs748443825
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe) rs2047109121
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu) rs758693012
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3]) rs1555159397
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu) rs145100782
NM_014956.5(CEP164):c.393+5G>A rs1230691362
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs) rs2136940605
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro) rs2136940823
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser) rs769315243
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys) rs2136941463
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro) rs148987415
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu) rs377401620
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys) rs73016324
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)
NM_014956.5(CEP164):c.4163+3_4163+6del rs2047273023
NM_014956.5(CEP164):c.4163+6C>T rs576293282
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg) rs1274336690
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro) rs772989312
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp) rs745904143
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln) rs560527787
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro) rs560527787
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly) rs2137001261
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs) rs2047398079
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)
NM_014956.5(CEP164):c.4287-6G>A rs2137006602
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)
NM_014956.5(CEP164):c.4321A>G (p.Thr1441Ala)
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His) rs2137008848
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)
NM_014956.5(CEP164):c.485G>A (p.Arg162His) rs139763142
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser) rs770996340
NM_014956.5(CEP164):c.547A>C (p.Met183Leu) rs749917447
NM_014956.5(CEP164):c.547A>G (p.Met183Val) rs749917447
NM_014956.5(CEP164):c.548T>C (p.Met183Thr) rs144206271
NM_014956.5(CEP164):c.553-12_688-79del rs2135702447
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu) rs1354068792
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser) rs2135703292
NM_014956.5(CEP164):c.584C>G (p.Thr195Arg)
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser) rs2135703365
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly) rs753078424
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)
NM_014956.5(CEP164):c.644_646del (p.Gly215del) rs759774330
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del) rs2135704436
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)
NM_014956.5(CEP164):c.67A>G (p.Ile23Val) rs2135058910
NM_014956.5(CEP164):c.687+5T>A
NM_014956.5(CEP164):c.687+7A>G
NM_014956.5(CEP164):c.687G>C (p.Gln229His) rs2041112988
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys) rs749146317
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser) rs1335434297
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp) rs368668415
NM_014956.5(CEP164):c.765+3A>G
NM_014956.5(CEP164):c.765+4A>T
NM_014956.5(CEP164):c.765+6A>G rs2041252535
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys) rs2135912954
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del) rs764638875
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys) rs565845914
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly) rs1411607770
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys) rs772164945
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu) rs376214075
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile) rs2135914534
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser) rs566379982
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn) rs2042170733
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)
NM_014994.3(MAPKBP1):c.260A>G (p.Asn87Ser)
NM_014994.3(MAPKBP1):c.3662C>T (p.Ala1221Val) rs1797047068
NM_014994.3(MAPKBP1):c.3998G>C (p.Ser1333Thr) rs2065045118
NM_014994.3(MAPKBP1):c.97G>C (p.Glu33Gln) rs2064079900
NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)
NM_015028.4(TNIK):c.2724G>T (p.Thr908=) rs377530882
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu) rs35090763
NM_015028.4(TNIK):c.2737A>C (p.Lys913Gln) rs1340420482
NM_015046.5(SETX):c.-190G>A rs1055615359
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*2576_*2577del rs886063544
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser) rs2131461800
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) rs754200234
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) rs1589791895
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) rs1847120441
NM_015046.7(SETX):c.173A>G (p.His58Arg)
NM_015046.7(SETX):c.177+6A>G rs2131575018
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) rs1339144218
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) rs2131454695
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) rs2131453786
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
NM_015046.7(SETX):c.2516A>T (p.His839Leu) rs1847047743
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) rs774820992
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) rs2131450530
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) rs1258279869
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) rs931570379
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser) rs1564542121
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) rs1278965355
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) rs866546546
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) rs1846954116
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) rs1846942479
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) rs2131440671
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) rs2131440106
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) rs2131439346
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.388+8T>G
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) rs199974622
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) rs2131431252
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) rs781383567
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) rs1846817047
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu) rs1846757741
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) rs2131306081
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) rs1844774142
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) rs1844713785
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) rs1403263153
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5949+4_5949+7del rs1844702677
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) rs2131289331
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser) rs2131284986
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+8A>G rs1314479594
NM_015046.7(SETX):c.6107-3C>T
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) rs762479596
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
NM_015046.7(SETX):c.6209-12T>G
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>G
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) rs1589647043
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) rs957607977
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) rs1843647719
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu) rs1843510567
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) rs1843502057
NM_015046.7(SETX):c.6654+5G>A rs1843497922
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys) rs2131182464
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) rs1843274414
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) rs1843272035
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) rs1843271572
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-16T>C
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp) rs2131148064
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) rs150489999
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
NM_015046.7(SETX):c.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) rs753051382
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) rs767515528
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) rs2131114345
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) rs1303389955
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) rs2131113325
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) rs2131113303
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) rs2131113093
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) rs1039417117
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) rs2131112014
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) rs2131111712
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) rs979454428
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) rs2131492208
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041
NM_015102.5(NPHP4):c.*26C>T rs533259623
NM_015102.5(NPHP4):c.*87C>G rs1640812510
NM_015102.5(NPHP4):c.1017G>C (p.Leu339Phe) rs769587826
NM_015102.5(NPHP4):c.1031G>T (p.Arg344Leu)
NM_015102.5(NPHP4):c.1045G>A (p.Val349Ile)
NM_015102.5(NPHP4):c.1045G>T (p.Val349Phe)
NM_015102.5(NPHP4):c.1081G>C (p.Glu361Gln) rs2101924426
NM_015102.5(NPHP4):c.1109T>A (p.Val370Glu) rs2101923937
NM_015102.5(NPHP4):c.1119+6A>C rs2101923698
NM_015102.5(NPHP4):c.1119T>G (p.Asn373Lys)
NM_015102.5(NPHP4):c.1138C>G (p.Leu380Val)
NM_015102.5(NPHP4):c.1159C>G (p.His387Asp) rs1041404643
NM_015102.5(NPHP4):c.115G>A (p.Asp39Asn)
NM_015102.5(NPHP4):c.1162A>C (p.Met388Leu)
NM_015102.5(NPHP4):c.1180T>G (p.Trp394Gly) rs1646370640
NM_015102.5(NPHP4):c.1199C>G (p.Ala400Gly)
NM_015102.5(NPHP4):c.1205C>G (p.Ser402Cys)
NM_015102.5(NPHP4):c.1212G>T (p.Arg404Ser) rs1646368963
NM_015102.5(NPHP4):c.1226T>C (p.Leu409Pro) rs1382775969
NM_015102.5(NPHP4):c.1243C>T (p.Pro415Ser) rs1646366756
NM_015102.5(NPHP4):c.1264G>C (p.Val422Leu) rs373905286
NM_015102.5(NPHP4):c.1270A>G (p.Lys424Glu) rs1342432195
NM_015102.5(NPHP4):c.1292G>A (p.Ser431Asn)
NM_015102.5(NPHP4):c.1293C>G (p.Ser431Arg) rs2101743229
NM_015102.5(NPHP4):c.1295C>T (p.Ser432Phe) rs2101743191
NM_015102.5(NPHP4):c.1312G>A (p.Val438Met)
NM_015102.5(NPHP4):c.1328T>A (p.Leu443His)
NM_015102.5(NPHP4):c.1340T>G (p.Phe447Cys) rs1646081863
NM_015102.5(NPHP4):c.1346T>A (p.Leu449Gln) rs1437698448
NM_015102.5(NPHP4):c.1346T>C (p.Leu449Pro)
NM_015102.5(NPHP4):c.136-12G>C rs371432148
NM_015102.5(NPHP4):c.1364T>G (p.Leu455Arg) rs1646080043
NM_015102.5(NPHP4):c.1372C>A (p.Pro458Thr) rs1488701326
NM_015102.5(NPHP4):c.1375A>C (p.Thr459Pro)
NM_015102.5(NPHP4):c.1376C>T (p.Thr459Met) rs371819898
NM_015102.5(NPHP4):c.139G>T (p.Val47Leu) rs1288396418
NM_015102.5(NPHP4):c.1415C>G (p.Ser472Cys)
NM_015102.5(NPHP4):c.1417A>G (p.Arg473Gly)
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His) rs534853218
NM_015102.5(NPHP4):c.1442G>A (p.Ser481Asn) rs1645059863
NM_015102.5(NPHP4):c.1462C>G (p.Arg488Gly) rs778043242
NM_015102.5(NPHP4):c.1463G>A (p.Arg488Gln) rs375429200
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro) rs375429200
NM_015102.5(NPHP4):c.1469T>C (p.Leu490Pro) rs537135377
NM_015102.5(NPHP4):c.1489C>A (p.Pro497Thr)
NM_015102.5(NPHP4):c.1503+2dup
NM_015102.5(NPHP4):c.1503+3A>C rs1184570247
NM_015102.5(NPHP4):c.1504-13T>G
NM_015102.5(NPHP4):c.1510A>G (p.Ile504Val)
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val) rs766910538
NM_015102.5(NPHP4):c.1525G>T (p.Ala509Ser)
NM_015102.5(NPHP4):c.1527C>T (p.Ala509=) rs773573886
NM_015102.5(NPHP4):c.1532C>G (p.Pro511Arg) rs761974713
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp) rs769747675
NM_015102.5(NPHP4):c.1561A>T (p.Arg521Trp)
NM_015102.5(NPHP4):c.1567A>G (p.Thr523Ala)
NM_015102.5(NPHP4):c.1585G>C (p.Gly529Arg) rs750626428
NM_015102.5(NPHP4):c.1601C>T (p.Pro534Leu)
NM_015102.5(NPHP4):c.1603G>C (p.Ala535Pro) rs1644945043
NM_015102.5(NPHP4):c.1611+3A>C
NM_015102.5(NPHP4):c.1617G>T (p.Glu539Asp)
NM_015102.5(NPHP4):c.1633G>A (p.Gly545Ser)
NM_015102.5(NPHP4):c.1663C>G (p.Gln555Glu) rs1369972493
NM_015102.5(NPHP4):c.1665G>C (p.Gln555His)
NM_015102.5(NPHP4):c.1669T>C (p.Ser557Pro)
NM_015102.5(NPHP4):c.1691T>C (p.Ile564Thr)
NM_015102.5(NPHP4):c.1715C>A (p.Pro572Gln) rs183722664
NM_015102.5(NPHP4):c.1721C>T (p.Thr574Met)
NM_015102.5(NPHP4):c.1732G>C (p.Ala578Pro) rs1557700541
NM_015102.5(NPHP4):c.1733C>T (p.Ala578Val)
NM_015102.5(NPHP4):c.1736C>A (p.Pro579His) rs2101139333
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del) rs1282891020
NM_015102.5(NPHP4):c.1792A>G (p.Met598Val) rs926493923
NM_015102.5(NPHP4):c.1811C>T (p.Ser604Phe)
NM_015102.5(NPHP4):c.1820C>T (p.Pro607Leu)
NM_015102.5(NPHP4):c.1831G>C (p.Asp611His)
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser) rs1557699489
NM_015102.5(NPHP4):c.1846C>G (p.Pro616Ala)
NM_015102.5(NPHP4):c.1888C>A (p.Pro630Thr)
NM_015102.5(NPHP4):c.1906G>A (p.Asp636Asn)
NM_015102.5(NPHP4):c.1949T>G (p.Phe650Cys) rs1644859413
NM_015102.5(NPHP4):c.1955+3A>G
NM_015102.5(NPHP4):c.1955+7C>A rs886046466
NM_015102.5(NPHP4):c.1956-3C>T
NM_015102.5(NPHP4):c.1957G>C (p.Val653Leu) rs1644835961
NM_015102.5(NPHP4):c.1967A>G (p.Asp656Gly)
NM_015102.5(NPHP4):c.1987C>A (p.Pro663Thr) rs886046465
NM_015102.5(NPHP4):c.2013G>C (p.Gln671His)
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His) rs375416303
NM_015102.5(NPHP4):c.2021G>T (p.Arg674Leu) rs375416303
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.202C>A (p.Arg68=) rs771873685
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser) rs368101076
NM_015102.5(NPHP4):c.2045G>C (p.Arg682Pro) rs543023683
NM_015102.5(NPHP4):c.2066A>G (p.Asp689Gly)
NM_015102.5(NPHP4):c.2077_2082dup (p.Gln693_Pro694dup) rs2101120687
NM_015102.5(NPHP4):c.2093C>A (p.Ala698Asp) rs745698836
NM_015102.5(NPHP4):c.210C>G (p.Phe70Leu) rs2102372665
NM_015102.5(NPHP4):c.2110G>A (p.Val704Met)
NM_015102.5(NPHP4):c.2110G>C (p.Val704Leu)
NM_015102.5(NPHP4):c.2116G>A (p.Val706Met) rs755418982
NM_015102.5(NPHP4):c.2117T>G (p.Val706Gly)
NM_015102.5(NPHP4):c.2125G>A (p.Asp709Asn) rs1282597137
NM_015102.5(NPHP4):c.2126A>C (p.Asp709Ala) rs926092150
NM_015102.5(NPHP4):c.2126A>G (p.Asp709Gly)
NM_015102.5(NPHP4):c.2126A>T (p.Asp709Val) rs926092150
NM_015102.5(NPHP4):c.212T>G (p.Phe71Cys)
NM_015102.5(NPHP4):c.2131A>G (p.Thr711Ala)
NM_015102.5(NPHP4):c.2155T>G (p.Phe719Val) rs1644098679
NM_015102.5(NPHP4):c.2162T>A (p.Leu721Gln) rs2100922749
NM_015102.5(NPHP4):c.2163G>C (p.Leu721=)
NM_015102.5(NPHP4):c.2170A>G (p.Met724Val) rs886598057
NM_015102.5(NPHP4):c.2186T>C (p.Phe729Ser) rs1260036696
NM_015102.5(NPHP4):c.218G>C (p.Arg73Thr)
NM_015102.5(NPHP4):c.2204G>C (p.Arg735Pro) rs1277193938
NM_015102.5(NPHP4):c.2207G>A (p.Arg736His) rs759527356
NM_015102.5(NPHP4):c.2218C>G (p.Arg740Gly)
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys) rs2100920979
NM_015102.5(NPHP4):c.2267C>T (p.Ser756Phe) rs773994262
NM_015102.5(NPHP4):c.2275C>T (p.Leu759Phe)
NM_015102.5(NPHP4):c.2278A>C (p.Ile760Leu) rs1044293014
NM_015102.5(NPHP4):c.2287G>A (p.Ala763Thr) rs1644089326
NM_015102.5(NPHP4):c.2290G>A (p.Ala764Thr)
NM_015102.5(NPHP4):c.2299A>T (p.Met767Leu) rs1485681184
NM_015102.5(NPHP4):c.2309T>C (p.Leu770Pro)
NM_015102.5(NPHP4):c.2312T>A (p.Leu771His) rs1237462272
NM_015102.5(NPHP4):c.2324G>A (p.Arg775Gln)
NM_015102.5(NPHP4):c.2324G>T (p.Arg775Leu) rs1034438971
NM_015102.5(NPHP4):c.2327C>T (p.Pro776Leu) rs201527181
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del) rs751681273
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_015102.5(NPHP4):c.236T>G (p.Val79Gly) rs2102372361
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) rs764028061
NM_015102.5(NPHP4):c.2378A>G (p.Gln793Arg) rs368049363
NM_015102.5(NPHP4):c.2387T>C (p.Met796Thr)
NM_015102.5(NPHP4):c.2405T>C (p.Met802Thr)
NM_015102.5(NPHP4):c.2419C>A (p.Arg807Ser) rs770004315
NM_015102.5(NPHP4):c.241_249del (p.Pro81_Lys83del)
NM_015102.5(NPHP4):c.2426A>C (p.Lys809Thr)
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg) rs747951355
NM_015102.5(NPHP4):c.2426A>T (p.Lys809Met) rs747951355
NM_015102.5(NPHP4):c.2428C>G (p.Pro810Ala) rs1643876772
NM_015102.5(NPHP4):c.242C>T (p.Pro81Leu) rs375278331
NM_015102.5(NPHP4):c.2434G>A (p.Gly812Ser) rs755644390
NM_015102.5(NPHP4):c.2435G>A (p.Gly812Asp)
NM_015102.5(NPHP4):c.2447T>A (p.Val816Glu) rs1217129334
NM_015102.5(NPHP4):c.245C>T (p.Thr82Met)
NM_015102.5(NPHP4):c.2481C>G (p.Asn827Lys) rs761721701
NM_015102.5(NPHP4):c.2482G>C (p.Val828Leu) rs774129927
NM_015102.5(NPHP4):c.248_250del (p.Lys83del)
NM_015102.5(NPHP4):c.249G>C (p.Lys83Asn)
NM_015102.5(NPHP4):c.2570G>A (p.Arg857His)
NM_015102.5(NPHP4):c.2587C>A (p.Leu863Ile)
NM_015102.5(NPHP4):c.2609G>A (p.Arg870Lys) rs993280899
NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys) rs886044065
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly) rs1642710907
NM_015102.5(NPHP4):c.2660T>A (p.Leu887Gln)
NM_015102.5(NPHP4):c.2673A>G (p.Leu891=) rs974196549
NM_015102.5(NPHP4):c.2673_2675dup (p.Leu892_Thr893insLeu)
NM_015102.5(NPHP4):c.2674C>G (p.Leu892Val) rs752244601
NM_015102.5(NPHP4):c.268G>C (p.Val90Leu) rs561876203
NM_015102.5(NPHP4):c.2734C>G (p.Arg912Gly) rs368106760
NM_015102.5(NPHP4):c.2758A>C (p.Arg920=)
NM_015102.5(NPHP4):c.2767C>T (p.Arg923Cys)
NM_015102.5(NPHP4):c.280-4G>T rs190495420
NM_015102.5(NPHP4):c.280-7T>G
NM_015102.5(NPHP4):c.2807C>A (p.Thr936Lys) rs201074950
NM_015102.5(NPHP4):c.2809A>G (p.Ser937Gly)
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu) rs184961418
NM_015102.5(NPHP4):c.2817+6G>A rs1642683309
NM_015102.5(NPHP4):c.2818-15T>G
NM_015102.5(NPHP4):c.2819C>A (p.Ala940Glu) rs200136271
NM_015102.5(NPHP4):c.2876G>C (p.Arg959Pro) rs12084067
NM_015102.5(NPHP4):c.2890G>C (p.Ala964Pro)
NM_015102.5(NPHP4):c.2921C>T (p.Ala974Val)
NM_015102.5(NPHP4):c.2929A>G (p.Thr977Ala)
NM_015102.5(NPHP4):c.2932G>C (p.Glu978Gln) rs1281788268
NM_015102.5(NPHP4):c.2941C>G (p.Leu981Val)
NM_015102.5(NPHP4):c.2947G>C (p.Ala983Pro) rs760239548
NM_015102.5(NPHP4):c.2962G>T (p.Ala988Ser) rs770053255
NM_015102.5(NPHP4):c.2993C>G (p.Pro998Arg)
NM_015102.5(NPHP4):c.3027C>G (p.Ile1009Met) rs762202268
NM_015102.5(NPHP4):c.3045-4C>A rs886046462
NM_015102.5(NPHP4):c.3078C>T (p.Phe1026=) rs886046461
NM_015102.5(NPHP4):c.3082G>A (p.Gly1028Ser) rs1557616048
NM_015102.5(NPHP4):c.3082G>C (p.Gly1028Arg) rs1557616048
NM_015102.5(NPHP4):c.310C>G (p.Pro104Ala) rs1286255762
NM_015102.5(NPHP4):c.3121T>C (p.Phe1041Leu)
NM_015102.5(NPHP4):c.3128T>C (p.Leu1043Pro) rs755481438
NM_015102.5(NPHP4):c.3136A>T (p.Ser1046Cys)
NM_015102.5(NPHP4):c.3138C>G (p.Ser1046Arg)
NM_015102.5(NPHP4):c.3146C>T (p.Pro1049Leu) rs938043515
NM_015102.5(NPHP4):c.3149A>C (p.Gln1050Pro) rs2100620578
NM_015102.5(NPHP4):c.3163C>T (p.Pro1055Ser)
NM_015102.5(NPHP4):c.3168C>G (p.His1056Gln)
NM_015102.5(NPHP4):c.318C>A (p.Ile106=)
NM_015102.5(NPHP4):c.3203T>C (p.Phe1068Ser) rs764323785
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys) rs764323785
NM_015102.5(NPHP4):c.3206C>T (p.Ser1069Phe)
NM_015102.5(NPHP4):c.3211G>A (p.Gly1071Arg) rs1642349499
NM_015102.5(NPHP4):c.3223_3224delinsTG (p.Met1075Trp)
NM_015102.5(NPHP4):c.3231+4C>T
NM_015102.5(NPHP4):c.3231+6G>A
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys) rs778087914
NM_015102.5(NPHP4):c.3253G>A (p.Glu1085Lys) rs1479758700
NM_015102.5(NPHP4):c.3274T>C (p.Ser1092Pro) rs2100596464
NM_015102.5(NPHP4):c.3299C>A (p.Pro1100His)
NM_015102.5(NPHP4):c.3301A>G (p.Thr1101Ala) rs372569755
NM_015102.5(NPHP4):c.3316G>T (p.Val1106Phe) rs1641420975
NM_015102.5(NPHP4):c.3337G>A (p.Gly1113Ser) rs2100470828
NM_015102.5(NPHP4):c.3338G>A (p.Gly1113Asp)
NM_015102.5(NPHP4):c.3360C>G (p.Cys1120Trp)
NM_015102.5(NPHP4):c.3373C>A (p.Leu1125Met) rs2100469427
NM_015102.5(NPHP4):c.3379C>T (p.Pro1127Ser)
NM_015102.5(NPHP4):c.3388G>A (p.Val1130Met) rs368313554
NM_015102.5(NPHP4):c.3389T>C (p.Val1130Ala) rs752042066
NM_015102.5(NPHP4):c.3389T>G (p.Val1130Gly) rs752042066
NM_015102.5(NPHP4):c.3393C>A (p.Asp1131Glu) rs2100468544
NM_015102.5(NPHP4):c.3398T>C (p.Val1133Ala) rs2100468384
NM_015102.5(NPHP4):c.343G>A (p.Glu115Lys)
NM_015102.5(NPHP4):c.3440C>T (p.Ala1147Val)
NM_015102.5(NPHP4):c.3461A>G (p.His1154Arg)
NM_015102.5(NPHP4):c.3467T>A (p.Phe1156Tyr)
NM_015102.5(NPHP4):c.3484G>C (p.Gly1162Arg) rs1304901558
NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp) rs1387983031
NM_015102.5(NPHP4):c.3508G>C (p.Val1170Leu)
NM_015102.5(NPHP4):c.3512A>T (p.His1171Leu) rs1036719782
NM_015102.5(NPHP4):c.3517C>G (p.Arg1173Gly) rs772682572
NM_015102.5(NPHP4):c.3521G>A (p.Cys1174Tyr) rs1641309754
NM_015102.5(NPHP4):c.3521G>T (p.Cys1174Phe)
NM_015102.5(NPHP4):c.3525C>A (p.Ser1175Arg)
NM_015102.5(NPHP4):c.3538A>T (p.Ile1180Phe) rs956330607
NM_015102.5(NPHP4):c.3565G>A (p.Gly1189Arg)
NM_015102.5(NPHP4):c.3570A>C (p.Glu1190Asp) rs555164
NM_015102.5(NPHP4):c.3580A>T (p.Ile1194Leu) rs1201512603
NM_015102.5(NPHP4):c.3598A>G (p.Ser1200Gly)
NM_015102.5(NPHP4):c.3615G>C (p.Glu1205Asp)
NM_015102.5(NPHP4):c.3631G>A (p.Val1211Ile)
NM_015102.5(NPHP4):c.3636C>G (p.Ile1212Met)
NM_015102.5(NPHP4):c.3644C>T (p.Ser1215Leu)
NM_015102.5(NPHP4):c.3656T>C (p.Leu1219Pro) rs1641092466
NM_015102.5(NPHP4):c.3670C>G (p.Gln1224Glu) rs1469154562
NM_015102.5(NPHP4):c.3702G>A (p.Gln1234=)
NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg) rs1028037857
NM_015102.5(NPHP4):c.371A>G (p.Gln124Arg) rs1652098180
NM_015102.5(NPHP4):c.3737C>G (p.Thr1246Ser)
NM_015102.5(NPHP4):c.3748C>T (p.Leu1250Phe)
NM_015102.5(NPHP4):c.3749T>G (p.Leu1250Arg)
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3788C>G (p.Ala1263Gly) rs1641072103
NM_015102.5(NPHP4):c.3802C>A (p.Pro1268Thr) rs1641070727
NM_015102.5(NPHP4):c.3806A>C (p.Gln1269Pro) rs747971299
NM_015102.5(NPHP4):c.3808G>A (p.Glu1270Lys)
NM_015102.5(NPHP4):c.3810G>C (p.Glu1270Asp) rs1344500018
NM_015102.5(NPHP4):c.3816G>C (p.Lys1272Asn)
NM_015102.5(NPHP4):c.3830G>T (p.Gly1277Val)
NM_015102.5(NPHP4):c.3836T>C (p.Phe1279Ser) rs1385575531
NM_015102.5(NPHP4):c.3838G>A (p.Val1280Met) rs751907566
NM_015102.5(NPHP4):c.3838G>C (p.Val1280Leu) rs751907566
NM_015102.5(NPHP4):c.3848C>T (p.Pro1283Leu) rs765510993
NM_015102.5(NPHP4):c.3853G>C (p.Gly1285Arg) rs537859714
NM_015102.5(NPHP4):c.3854G>C (p.Gly1285Ala) rs1192199886
NM_015102.5(NPHP4):c.3877G>T (p.Val1293Leu) rs769488870
NM_015102.5(NPHP4):c.3886C>T (p.Leu1296Phe) rs2100388131
NM_015102.5(NPHP4):c.3902G>T (p.Arg1301Leu) rs760871475
NM_015102.5(NPHP4):c.3913C>A (p.Leu1305Ile) rs2100386839
NM_015102.5(NPHP4):c.3920T>A (p.Leu1307Gln) rs2100386611
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.3971G>C (p.Cys1324Ser) rs1371346310
NM_015102.5(NPHP4):c.3996+4T>C
NM_015102.5(NPHP4):c.3998C>G (p.Ala1333Gly) rs2100375514
NM_015102.5(NPHP4):c.401G>A (p.Arg134Gln)
NM_015102.5(NPHP4):c.4024G>A (p.Glu1342Lys)
NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu) rs1350286134
NM_015102.5(NPHP4):c.4046G>A (p.Arg1349Lys) rs2100373812
NM_015102.5(NPHP4):c.4051A>C (p.Thr1351Pro) rs746129070
NM_015102.5(NPHP4):c.4052C>G (p.Thr1351Ser) rs1347409180
NM_015102.5(NPHP4):c.4065del (p.Tyr1356fs)
NM_015102.5(NPHP4):c.4067A>T (p.Tyr1356Phe) rs747071185
NM_015102.5(NPHP4):c.4073C>T (p.Ser1358Phe)
NM_015102.5(NPHP4):c.4093C>T (p.His1365Tyr) rs2100372334
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp) rs1417370808
NM_015102.5(NPHP4):c.4140+9G>A
NM_015102.5(NPHP4):c.4141G>A (p.Val1381Ile)
NM_015102.5(NPHP4):c.4157C>A (p.Thr1386Asn) rs1255225068
NM_015102.5(NPHP4):c.4163C>T (p.Thr1388Ile) rs1640835287
NM_015102.5(NPHP4):c.4172T>A (p.Leu1391Ter) rs2100357134
NM_015102.5(NPHP4):c.4175A>G (p.Gln1392Arg)
NM_015102.5(NPHP4):c.4195G>A (p.Val1399Met) rs1640830274
NM_015102.5(NPHP4):c.4196T>C (p.Val1399Ala)
NM_015102.5(NPHP4):c.4198G>A (p.Gly1400Ser) rs1640829676
NM_015102.5(NPHP4):c.4217T>G (p.Ile1406Ser) rs2100356021
NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val) rs1640827027
NM_015102.5(NPHP4):c.4225A>G (p.Asn1409Asp)
NM_015102.5(NPHP4):c.4232A>G (p.His1411Arg)
NM_015102.5(NPHP4):c.4246G>A (p.Glu1416Lys)
NM_015102.5(NPHP4):c.4249G>A (p.Glu1417Lys) rs746775119
NM_015102.5(NPHP4):c.4267G>C (p.Val1423Leu)
NM_015102.5(NPHP4):c.427C>T (p.Pro143Ser)
NM_015102.5(NPHP4):c.431T>A (p.Ile144Asn)
NM_015102.5(NPHP4):c.43C>T (p.Pro15Ser)
NM_015102.5(NPHP4):c.442C>G (p.Gln148Glu) rs372862010
NM_015102.5(NPHP4):c.446A>G (p.Asp149Gly)
NM_015102.5(NPHP4):c.44C>T (p.Pro15Leu)
NM_015102.5(NPHP4):c.453-3C>G
NM_015102.5(NPHP4):c.464A>G (p.Tyr155Cys) rs1651713266
NM_015102.5(NPHP4):c.466C>T (p.His156Tyr)
NM_015102.5(NPHP4):c.46C>T (p.Pro16Ser) rs569481065
NM_015102.5(NPHP4):c.473C>A (p.Thr158Asn) rs1651710968
NM_015102.5(NPHP4):c.473C>T (p.Thr158Ile)
NM_015102.5(NPHP4):c.493C>T (p.Pro165Ser) rs772978482
NM_015102.5(NPHP4):c.508C>T (p.Pro170Ser) rs1052194098
NM_015102.5(NPHP4):c.517C>A (p.Gln173Lys)
NM_015102.5(NPHP4):c.548G>C (p.Cys183Ser)
NM_015102.5(NPHP4):c.599A>G (p.His200Arg) rs878854994
NM_015102.5(NPHP4):c.605T>C (p.Leu202Pro) rs758798813
NM_015102.5(NPHP4):c.61G>A (p.Ala21Thr)
NM_015102.5(NPHP4):c.665G>C (p.Gly222Ala) rs2102140145
NM_015102.5(NPHP4):c.671C>G (p.Ser224Cys) rs1650382303
NM_015102.5(NPHP4):c.673+18T>G
NM_015102.5(NPHP4):c.673+5G>T rs1346224220
NM_015102.5(NPHP4):c.674-3C>T rs1000557946
NM_015102.5(NPHP4):c.679G>A (p.Ala227Thr) rs1196644142
NM_015102.5(NPHP4):c.686G>A (p.Arg229Gln) rs756137436
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys) rs752644932
NM_015102.5(NPHP4):c.71C>G (p.Pro24Arg)
NM_015102.5(NPHP4):c.725A>G (p.Asp242Gly)
NM_015102.5(NPHP4):c.742C>G (p.Leu248Val)
NM_015102.5(NPHP4):c.766G>A (p.Glu256Lys)
NM_015102.5(NPHP4):c.771A>C (p.Glu257Asp) rs1648398783
NM_015102.5(NPHP4):c.820C>G (p.Pro274Ala) rs886046467
NM_015102.5(NPHP4):c.829G>A (p.Gly277Ser)
NM_015102.5(NPHP4):c.829G>C (p.Gly277Arg)
NM_015102.5(NPHP4):c.832G>A (p.Gly278Ser)
NM_015102.5(NPHP4):c.833G>T (p.Gly278Val)
NM_015102.5(NPHP4):c.835G>T (p.Ala279Ser)
NM_015102.5(NPHP4):c.857G>A (p.Arg286His)
NM_015102.5(NPHP4):c.862C>G (p.Arg288Gly) rs372256352
NM_015102.5(NPHP4):c.862C>T (p.Arg288Cys) rs372256352
NM_015102.5(NPHP4):c.871G>C (p.Val291Leu)
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015102.5(NPHP4):c.873_890del (p.His292_Phe297del)
NM_015102.5(NPHP4):c.890T>A (p.Phe297Tyr)
NM_015102.5(NPHP4):c.897G>C (p.Gln299His)
NM_015102.5(NPHP4):c.922C>T (p.Pro308Ser) rs1570585632
NM_015102.5(NPHP4):c.926A>G (p.Glu309Gly)
NM_015102.5(NPHP4):c.92T>C (p.Phe31Ser)
NM_015102.5(NPHP4):c.932A>G (p.Asp311Gly) rs371217093
NM_015102.5(NPHP4):c.962G>T (p.Ser321Ile) rs1046803552
NM_015102.5(NPHP4):c.964_965inv (p.Arg322Leu)
NM_015102.5(NPHP4):c.96G>T (p.Gln32His) rs776102193
NM_015102.5(NPHP4):c.973G>C (p.Val325Leu)
NM_015102.5(NPHP4):c.977C>T (p.Ser326Phe)
NM_015102.5(NPHP4):c.985A>C (p.Lys329Gln)
NM_015102.5(NPHP4):c.992+4T>G rs1647207716
NM_015102.5(NPHP4):c.992G>C (p.Ser331Thr)
NM_015102.5(NPHP4):c.993-3C>G
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met) rs117750374
NM_015114.3(ANKLE2):c.1202A>G (p.Asp401Gly) rs2136158180
NM_015114.3(ANKLE2):c.1687G>A (p.Glu563Lys) rs1334824087
NM_015114.3(ANKLE2):c.1892-127_1892-65del rs1555235999
NM_015114.3(ANKLE2):c.473G>T (p.Gly158Val)
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.-39del rs764473588
NM_015120.4(ALMS1):c.-48C>T rs543687863
NM_015120.4(ALMS1):c.-78A>G rs571728800
NM_015120.4(ALMS1):c.-91A>G rs1670500821
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015160.3(PMPCA):c.1205G>C (p.Arg402Pro) rs769031961
NM_015160.3(PMPCA):c.160C>T (p.Pro54Ser)
NM_015160.3(PMPCA):c.634-266T>G rs755207442
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
NM_015160.3(PMPCA):c.71+3G>A
NM_015160.3(PMPCA):c.897+6G>A rs150776126
NM_015189.3(EXOC6B):c.925G>T (p.Glu309Ter)
NM_015261.3(NCAPD3):c.2062G>T (p.Ala688Ser) rs1249831283
NM_015261.3(NCAPD3):c.2707G>A (p.Ala903Thr) rs1207215795
NM_015261.3(NCAPD3):c.2816A>G (p.Lys939Arg)
NM_015261.3(NCAPD3):c.3197_3198del (p.Asn1065_Tyr1066insTer)
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*125G>T rs868861934
NM_015272.5(RPGRIP1L):c.*133T>A rs1963396187
NM_015272.5(RPGRIP1L):c.*159T>G rs1963395143
NM_015272.5(RPGRIP1L):c.*1645A>T rs144554139
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*846A>T rs1963365021
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.-16A>G rs909461672
NM_015272.5(RPGRIP1L):c.-8G>T rs1020579838
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys) rs776941281
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) rs1029054579
NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu) rs976110882
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=) rs1967363312
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
NM_015272.5(RPGRIP1L):c.230+14G>A rs1970739259
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=) rs773361667
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys) rs376808910
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile) rs1195150584
NM_015275.3(WASHC4):c.1643A>G (p.Asn548Ser)
NM_015275.3(WASHC4):c.1731del (p.Pro579fs)
NM_015275.3(WASHC4):c.3420G>A (p.Ala1140=)
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser) rs1881275367
NM_015294.6(TRIM37):c.*1029A>G rs1005760604
NM_015294.6(TRIM37):c.*1060C>G rs2033211003
NM_015294.6(TRIM37):c.*118G>T rs748610821
NM_015294.6(TRIM37):c.-228C>G rs886053179
NM_015294.6(TRIM37):c.-334C>G rs886053182
NM_015294.6(TRIM37):c.-335T>A rs886053183
NM_015294.6(TRIM37):c.-389G>T rs886053184
NM_015294.6(TRIM37):c.1020-10dup
NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) rs199714666
NM_015294.6(TRIM37):c.1200-5T>C rs1326036403
NM_015294.6(TRIM37):c.1667+9C>T rs2039956432
NM_015294.6(TRIM37):c.1870del (p.Asp624fs) rs1568027916
NM_015294.6(TRIM37):c.2002G>A (p.Val668Met)
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) rs1568017495
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) rs886053176
NM_015294.6(TRIM37):c.2676T>G (p.Ala892=) rs886053175
NM_015294.6(TRIM37):c.2695+11A>G rs1215977068
NM_015294.6(TRIM37):c.2754T>C (p.His918=) rs746826852
NM_015294.6(TRIM37):c.369+8G>C rs2043537419
NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) rs61758100
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) rs1568191596
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser) rs2042299241
NM_015294.6(TRIM37):c.810-13dup rs367700401
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) rs776019614
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108
NM_015294.6(TRIM37):c.943-7_943-5del rs886053177
NM_015311.3(OBSL1):c.*102_*103insTA rs538538342
NM_015311.3(OBSL1):c.-165G>C rs886055672
NM_015311.3(OBSL1):c.-190C>T rs886055673
NM_015311.3(OBSL1):c.-209C>G rs529852516
NM_015311.3(OBSL1):c.-35C>A rs1038778819
NM_015311.3(OBSL1):c.-43_-42del rs1491488448
NM_015311.3(OBSL1):c.-43dup rs747020402
NM_015311.3(OBSL1):c.-51A>C rs796511004
NM_015311.3(OBSL1):c.-51A>T rs796511004
NM_015311.3(OBSL1):c.-73C>T rs1005228764
NM_015311.3(OBSL1):c.1077G>A (p.Val359=) rs1697069983
NM_015311.3(OBSL1):c.1151G>C (p.Arg384Pro) rs199678301
NM_015311.3(OBSL1):c.1296G>A (p.Lys432=) rs1349541795
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) rs886055666
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.1787G>A (p.Ser596Asn) rs886055664
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) rs369705959
NM_015311.3(OBSL1):c.1850G>T (p.Arg617Leu) rs369705959
NM_015311.3(OBSL1):c.189C>G (p.Asp63Glu) rs886055668
NM_015311.3(OBSL1):c.1911C>G (p.Leu637=) rs1431657167
NM_015311.3(OBSL1):c.1941G>T (p.Trp647Cys)
NM_015311.3(OBSL1):c.1966A>G (p.Ser656Gly) rs757444299
NM_015311.3(OBSL1):c.2077G>T (p.Ala693Ser) rs774620411
NM_015311.3(OBSL1):c.2135-7CA[2] rs140112967
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) rs886055663
NM_015311.3(OBSL1):c.2349T>A (p.Ser783Arg) rs778526652
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs) rs759648512
NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala) rs1696162949
NM_015311.3(OBSL1):c.3682C>G (p.Arg1228Gly) rs766007675
NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=) rs886055662
NM_015311.3(OBSL1):c.3892G>A (p.Gly1298Ser)
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015311.3(OBSL1):c.4018C>T (p.Leu1340=) rs1174786385
NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=) rs886055661
NM_015311.3(OBSL1):c.4194C>A (p.Val1398=) rs772150568
NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) rs752057894
NM_015311.3(OBSL1):c.4448G>A (p.Trp1483Ter) rs769517574
NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) rs375418681
NM_015311.3(OBSL1):c.4877-15C>G rs774710450
NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr) rs886055659
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) rs199594182
NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=) rs886055657
NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) rs201113762
NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn) rs886055656
NM_015311.3(OBSL1):c.56G>A (p.Arg19Gln) rs886055669
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) rs555031073
NM_015311.3(OBSL1):c.993C>T (p.Ala331=) rs771686909
NM_015340.4(LARS2):c.1291C>T (p.Arg431Trp)
NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn)
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val) rs1348647519
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) rs1478071728
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp) rs868411376
NM_015340.4(LARS2):c.2540A>G (p.Asn847Ser) rs538066955
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe)
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val) rs772644485
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu) rs1644798894
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser) rs151332868
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met) rs1436479178
NM_015378.4(VPS13D):c.4451-16A>G rs768036528
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg) rs779567569
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu) rs201376188
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg) rs868755481
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met) rs1232333514
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu) rs750000898
NM_015404.4(WHRN):c.*126C>A rs1834758281
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T rs1834755674
NM_015404.4(WHRN):c.*29T>G rs760640463
NM_015404.4(WHRN):c.*325dup rs886063369
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*495T>C rs954067626
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-310G>T rs1844288269
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) rs937343366
NM_015404.4(WHRN):c.1389G>T (p.Leu463=) rs748769354
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_015404.4(WHRN):c.1627-7T>G rs1835163569
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_015404.4(WHRN):c.1929G>A (p.Gln643=) rs1835054839
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) rs376805417
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) rs1301232723
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.680G>T (p.Gly227Val) rs908185393
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu) rs2146116896
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu) rs2063734567
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp) rs751026561
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn) rs546930607
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile) rs2148365764
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala) rs1478441405
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn) rs2063446998
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys) rs138089277
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys) rs774991764
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1154+4A>T
NM_015474.4(SAMHD1):c.1155-7T>G rs563734052
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile) rs2063439054
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu) rs1338752164
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val) rs755673943
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser) rs2063438570
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp) rs2148364990
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr) rs2063734469
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr) rs1444630318
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
NM_015474.4(SAMHD1):c.1271-3C>T
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile) rs2148360629
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs) rs2063734360
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr) rs1215408383
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu) rs751309562
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1410+4A>C
NM_015474.4(SAMHD1):c.1410+5G>T rs1601119476
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile) rs2148359709
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro) rs2063392360
NM_015474.4(SAMHD1):c.1503+3A>C
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr) rs1990240962
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu) rs1363652608
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn) rs999709360
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr) rs1046544176
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile) rs2148355946
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr) rs2148355943
NM_015474.4(SAMHD1):c.1608+6T>A rs747508625
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) rs1401777461
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys) rs2148355589
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp) rs1442543580
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys) rs2148355563
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly) rs769234037
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu) rs1252711773
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr) rs1187125859
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala) rs1187125859
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile) rs2148355522
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys) rs1990225699
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn) rs1990225210
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu) rs1448113794
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg) rs1255928710
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
NM_015474.4(SAMHD1):c.1746+4G>A
NM_015474.4(SAMHD1):c.1746+4_1746+15del rs1568758975
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) rs2148352252
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) rs1990117713
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) rs1245985032
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser) rs2146160495
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) rs2148352114
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg) rs2146160474
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser) rs2063733948
NM_015474.4(SAMHD1):c.208+4G>A rs1273248542
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr) rs141599277
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg) rs149797357
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp) rs2063689102
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala) rs1277922979
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His) rs2146161012
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val) rs757367080
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly) rs752442185
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg) rs775844501
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr) rs200703816
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser) rs765879627
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile) rs2146137354
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu) rs2063564236
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln) rs2146132117
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr) rs2146132053
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser) rs2146160927
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val) rs2146132029
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg) rs1308458054
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu) rs1303667371
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) rs758547160
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val) rs1568776699
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile) rs760912458
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro) rs772029258
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser) rs2146127793
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser) rs1235181942
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu) rs1601138159
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys) rs778647626
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) rs753391551
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
NM_015474.4(SAMHD1):c.696+5G>A rs1468637736
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp) rs2146160848
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp) rs1239766590
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser) rs2146160814
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=) rs774333580
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu) rs2063492690
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala) rs2146119399
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=) rs2146119382
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp) rs1451769476
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly) rs2146117130
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val) rs774197667
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
NM_015602.4(TOR1AIP1):c.1036G>A (p.Ala346Thr)
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)
NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr)
NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile)
NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser)
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
NM_015602.4(TOR1AIP1):c.121G>A (p.Asp41Asn) rs548996424
NM_015602.4(TOR1AIP1):c.121G>T (p.Asp41Tyr) rs548996424
NM_015602.4(TOR1AIP1):c.1223C>G (p.Ala408Gly) rs1649063593
NM_015602.4(TOR1AIP1):c.1225A>G (p.Ile409Val) rs752847821
NM_015602.4(TOR1AIP1):c.1226T>G (p.Ile409Ser) rs1649063848
NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val)
NM_015602.4(TOR1AIP1):c.1250A>T (p.Asp417Val)
NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs)
NM_015602.4(TOR1AIP1):c.1309C>T (p.Arg437Cys) rs1649066648
NM_015602.4(TOR1AIP1):c.1313G>A (p.Ser438Asn) rs1649066917
NM_015602.4(TOR1AIP1):c.1330A>G (p.Ile444Val) rs1571740939
NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val)
NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu)
NM_015602.4(TOR1AIP1):c.134A>C (p.Tyr45Ser)
NM_015602.4(TOR1AIP1):c.137G>A (p.Arg46Lys)
NM_015602.4(TOR1AIP1):c.140C>T (p.Thr47Ile)
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
NM_015602.4(TOR1AIP1):c.1441T>G (p.Phe481Val) rs762266968
NM_015602.4(TOR1AIP1):c.1465A>T (p.Thr489Ser) rs375127929
NM_015602.4(TOR1AIP1):c.1471A>T (p.Ile491Phe)
NM_015602.4(TOR1AIP1):c.1477T>C (p.Tyr493His) rs1571741081
NM_015602.4(TOR1AIP1):c.1478A>G (p.Tyr493Cys) rs1571741085
NM_015602.4(TOR1AIP1):c.1495G>A (p.Glu499Lys) rs2148484301
NM_015602.4(TOR1AIP1):c.1568T>A (p.Leu523Gln) rs201388189
NM_015602.4(TOR1AIP1):c.1604T>C (p.Phe535Ser) rs1649081168
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu) rs1558048637
NM_015602.4(TOR1AIP1):c.1613T>A (p.Val538Asp) rs774345665
NM_015602.4(TOR1AIP1):c.163C>G (p.Arg55Gly) rs1248211584
NM_015602.4(TOR1AIP1):c.1646A>G (p.Tyr549Cys) rs762657793
NM_015602.4(TOR1AIP1):c.1649A>G (p.Asn550Ser) rs567959058
NM_015602.4(TOR1AIP1):c.164G>A (p.Arg55Gln) rs770204192
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His) rs748833315
NM_015602.4(TOR1AIP1):c.1688G>T (p.Arg563Leu)
NM_015602.4(TOR1AIP1):c.1705C>A (p.Leu569Met) rs2148484421
NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)
NM_015602.4(TOR1AIP1):c.173G>A (p.Arg58Lys) rs1647752093
NM_015602.4(TOR1AIP1):c.1750T>A (p.Ter584Lys) rs1649088273
NM_015602.4(TOR1AIP1):c.177C>A (p.Phe59Leu) rs1553240735
NM_015602.4(TOR1AIP1):c.179C>G (p.Ser60Trp)
NM_015602.4(TOR1AIP1):c.184G>A (p.Glu62Lys)
NM_015602.4(TOR1AIP1):c.188C>T (p.Pro63Leu) rs148576898
NM_015602.4(TOR1AIP1):c.197T>A (p.Val66Glu) rs759389044
NM_015602.4(TOR1AIP1):c.20G>A (p.Arg7Gln) rs1647735292
NM_015602.4(TOR1AIP1):c.230A>G (p.Glu77Gly) rs1279097987
NM_015602.4(TOR1AIP1):c.249A>C (p.Lys83Asn)
NM_015602.4(TOR1AIP1):c.251G>T (p.Arg84Leu)
NM_015602.4(TOR1AIP1):c.25G>A (p.Glu9Lys) rs1647735595
NM_015602.4(TOR1AIP1):c.262G>C (p.Glu88Gln) rs1571719035
NM_015602.4(TOR1AIP1):c.267G>C (p.Glu89Asp)
NM_015602.4(TOR1AIP1):c.268T>A (p.Phe90Ile) rs1331015462
NM_015602.4(TOR1AIP1):c.271C>T (p.Arg91Trp)
NM_015602.4(TOR1AIP1):c.283G>A (p.Ala95Thr) rs751742803
NM_015602.4(TOR1AIP1):c.290A>G (p.Glu97Gly)
NM_015602.4(TOR1AIP1):c.296T>C (p.Val99Ala) rs1571719094
NM_015602.4(TOR1AIP1):c.29C>A (p.Ala10Glu) rs1304415641
NM_015602.4(TOR1AIP1):c.304A>G (p.Ser102Gly)
NM_015602.4(TOR1AIP1):c.323C>T (p.Ser108Phe) rs1347375251
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)
NM_015602.4(TOR1AIP1):c.338A>C (p.Gln113Pro) rs2148468796
NM_015602.4(TOR1AIP1):c.339G>T (p.Gln113His)
NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu)
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)
NM_015602.4(TOR1AIP1):c.360G>T (p.Glu120Asp)
NM_015602.4(TOR1AIP1):c.372_383del (p.Arg126_Arg129del) rs1647770427
NM_015602.4(TOR1AIP1):c.383C>T (p.Thr128Ile) rs1647773232
NM_015602.4(TOR1AIP1):c.38A>T (p.Glu13Val) rs768829514
NM_015602.4(TOR1AIP1):c.413C>T (p.Pro138Leu) rs1374010658
NM_015602.4(TOR1AIP1):c.416C>G (p.Pro139Arg)
NM_015602.4(TOR1AIP1):c.425C>T (p.Pro142Leu) rs199709287
NM_015602.4(TOR1AIP1):c.444G>T (p.Arg148Ser)
NM_015602.4(TOR1AIP1):c.455G>T (p.Arg152Leu) rs773422033
NM_015602.4(TOR1AIP1):c.460T>A (p.Ser154Thr) rs771016825
NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val)
NM_015602.4(TOR1AIP1):c.4G>A (p.Ala2Thr)
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
NM_015602.4(TOR1AIP1):c.514A>G (p.Ile172Val) rs1571720874
NM_015602.4(TOR1AIP1):c.518C>T (p.Ser173Leu) rs2148469972
NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser)
NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile) rs776120444
NM_015602.4(TOR1AIP1):c.548C>G (p.Ala183Gly) rs1647864922
NM_015602.4(TOR1AIP1):c.56T>A (p.Val19Asp) rs1189600415
NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln)
NM_015602.4(TOR1AIP1):c.592C>A (p.Leu198Ile) rs1647995889
NM_015602.4(TOR1AIP1):c.609T>C (p.Tyr203=) rs200022019
NM_015602.4(TOR1AIP1):c.610+3A>G rs1647996916
NM_015602.4(TOR1AIP1):c.62C>T (p.Pro21Leu) rs774997818
NM_015602.4(TOR1AIP1):c.64A>G (p.Arg22Gly) rs1647739818
NM_015602.4(TOR1AIP1):c.652+18A>G
NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala)
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)
NM_015602.4(TOR1AIP1):c.663AGA[1] (p.Glu222del) rs758018677
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
NM_015602.4(TOR1AIP1):c.676G>C (p.Asp226His) rs2148477008
NM_015602.4(TOR1AIP1):c.68C>A (p.Ala23Asp)
NM_015602.4(TOR1AIP1):c.700A>G (p.Thr234Ala) rs2148477026
NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile)
NM_015602.4(TOR1AIP1):c.71C>G (p.Pro24Arg) rs1553240696
NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly)
NM_015602.4(TOR1AIP1):c.769A>G (p.Ile257Val) rs775100134
NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr)
NM_015602.4(TOR1AIP1):c.791C>T (p.Ser264Leu) rs1648545614
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
NM_015602.4(TOR1AIP1):c.81G>C (p.Glu27Asp)
NM_015602.4(TOR1AIP1):c.826_827delinsTG (p.Pro276Cys) rs2148480005
NM_015602.4(TOR1AIP1):c.827_828delinsGC (p.Pro276Arg) rs1648699740
NM_015602.4(TOR1AIP1):c.852A>C (p.Gln284His) rs775959429
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn) rs1558045449
NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala)
NM_015602.4(TOR1AIP1):c.907+6T>G rs1648731719
NM_015602.4(TOR1AIP1):c.908-7C>A rs745887150
NM_015602.4(TOR1AIP1):c.931C>G (p.Leu311Val) rs2148482585
NM_015602.4(TOR1AIP1):c.938A>G (p.Asn313Ser) rs1571738635
NM_015602.4(TOR1AIP1):c.952dup (p.Thr318fs) rs1571738652
NM_015602.4(TOR1AIP1):c.964+1G>C
NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter)
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) rs1600361737
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His) rs1559369181
NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp) rs1574887966
NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln)
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.199T>C (p.Tyr67His)
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val) rs1317766293
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro) rs758387302
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp) rs532669006
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile) rs145507269
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del) rs763826196
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015665.6(AAAS):c.-84G>A rs886049653
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.327G>A (p.Thr109=) rs190876509
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.936-5C>T rs1944343648
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) rs1334273037
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
NM_015702.3(MMADHC):c.373-5C>A
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) rs768142805
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) rs1226772166
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) rs549522925
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys) rs773493767
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) rs2105041468
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) rs2105041421
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755
NM_015895.5(GMNN):c.276A>G (p.Glu92=) rs2113583678
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*138GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586AG[2] rs886056220
NM_015910.7(WDPCP):c.*634A>G rs944385657
NM_015910.7(WDPCP):c.-108GCG[6] rs563531309
NM_015910.7(WDPCP):c.-96G>T rs1282451086
NM_015910.7(WDPCP):c.1011G>C (p.Lys337Asn) rs1694406253
NM_015910.7(WDPCP):c.1023C>G (p.Ile341Met) rs2105191115
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr) rs755715881
NM_015910.7(WDPCP):c.102G>A (p.Met34Ile) rs1233974354
NM_015910.7(WDPCP):c.1053A>C (p.Lys351Asn)
NM_015910.7(WDPCP):c.1080G>A (p.Ser360=) rs376164426
NM_015910.7(WDPCP):c.1081C>G (p.Leu361Val)
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys) rs763789574
NM_015910.7(WDPCP):c.1108G>C (p.Val370Leu)
NM_015910.7(WDPCP):c.1156C>T (p.His386Tyr)
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp) rs1575343526
NM_015910.7(WDPCP):c.1180G>C (p.Val394Leu) rs1694385958
NM_015910.7(WDPCP):c.1181T>C (p.Val394Ala)
NM_015910.7(WDPCP):c.1187G>T (p.Ser396Ile)
NM_015910.7(WDPCP):c.1231A>G (p.Ile411Val)
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val) rs1694378572
NM_015910.7(WDPCP):c.1238T>G (p.Ile413Ser) rs952405240
NM_015910.7(WDPCP):c.1295T>C (p.Phe432Ser)
NM_015910.7(WDPCP):c.1297G>T (p.Asp433Tyr)
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg) rs1280928455
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.133T>G (p.Ser45Ala) rs1232978776
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg) rs2105185377
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn) rs372258764
NM_015910.7(WDPCP):c.1358G>T (p.Gly453Val)
NM_015910.7(WDPCP):c.1373T>C (p.Ile458Thr) rs2105184946
NM_015910.7(WDPCP):c.1415G>A (p.Gly472Asp) rs1694358624
NM_015910.7(WDPCP):c.1421T>C (p.Leu474Pro) rs1575342542
NM_015910.7(WDPCP):c.142A>G (p.Asn48Asp) rs1700981081
NM_015910.7(WDPCP):c.1435+18A>G rs777055382
NM_015910.7(WDPCP):c.1435+4A>C rs1694355240
NM_015910.7(WDPCP):c.1457T>C (p.Leu486Pro) rs2104901919
NM_015910.7(WDPCP):c.1471A>G (p.Ile491Val) rs1160883774
NM_015910.7(WDPCP):c.1491C>G (p.His497Gln) rs577571642
NM_015910.7(WDPCP):c.1519A>T (p.Ile507Phe) rs754985173
NM_015910.7(WDPCP):c.1527C>A (p.Ser509Arg)
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg) rs1417068972
NM_015910.7(WDPCP):c.1533G>A (p.Met511Ile) rs2104900509
NM_015910.7(WDPCP):c.1538G>C (p.Trp513Ser) rs2104900470
NM_015910.7(WDPCP):c.1547T>A (p.Leu516Gln) rs1692348691
NM_015910.7(WDPCP):c.154A>G (p.Ile52Val)
NM_015910.7(WDPCP):c.1559G>A (p.Cys520Tyr) rs1692347777
NM_015910.7(WDPCP):c.1574G>A (p.Ser525Asn)
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.1600C>A (p.Gln534Lys) rs987143451
NM_015910.7(WDPCP):c.1625-3C>T rs1692041154
NM_015910.7(WDPCP):c.1651T>G (p.Phe551Val) rs992864301
NM_015910.7(WDPCP):c.1652T>G (p.Phe551Cys) rs1333720503
NM_015910.7(WDPCP):c.1655A>G (p.Tyr552Cys)
NM_015910.7(WDPCP):c.1676T>C (p.Leu559Pro) rs2104858625
NM_015910.7(WDPCP):c.1703A>C (p.Asp568Ala)
NM_015910.7(WDPCP):c.1703A>T (p.Asp568Val)
NM_015910.7(WDPCP):c.1706A>T (p.Gln569Leu) rs780342443
NM_015910.7(WDPCP):c.1715A>C (p.Lys572Thr)
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg) rs190629484
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu) rs778132438
NM_015910.7(WDPCP):c.1736A>C (p.His579Pro)
NM_015910.7(WDPCP):c.1748+3G>C rs2104857373
NM_015910.7(WDPCP):c.1796C>T (p.Ala599Val)
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly) rs747517141
NM_015910.7(WDPCP):c.1799G>C (p.Arg600Pro)
NM_015910.7(WDPCP):c.1812+3G>A
NM_015910.7(WDPCP):c.1813-3C>T rs772639117
NM_015910.7(WDPCP):c.1817T>G (p.Ile606Ser)
NM_015910.7(WDPCP):c.1818T>G (p.Ile606Met)
NM_015910.7(WDPCP):c.181C>A (p.Gln61Lys)
NM_015910.7(WDPCP):c.1846T>A (p.Leu616Met) rs779790542
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr) rs765912876
NM_015910.7(WDPCP):c.187T>G (p.Tyr63Asp)
NM_015910.7(WDPCP):c.1882G>A (p.Asp628Asn)
NM_015910.7(WDPCP):c.1915+3A>C rs2104771665
NM_015910.7(WDPCP):c.1922T>G (p.Leu641Arg) rs1673680183
NM_015910.7(WDPCP):c.1923G>A (p.Leu641=) rs886056223
NM_015910.7(WDPCP):c.1942G>T (p.Asp648Tyr)
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.1970T>C (p.Leu657Pro)
NM_015910.7(WDPCP):c.1991A>T (p.Glu664Val)
NM_015910.7(WDPCP):c.1A>C (p.Met1Leu)
NM_015910.7(WDPCP):c.2001T>G (p.Phe667Leu)
NM_015910.7(WDPCP):c.2017C>T (p.Pro673Ser)
NM_015910.7(WDPCP):c.2051A>G (p.Gln684Arg)
NM_015910.7(WDPCP):c.2078G>T (p.Arg693Ile)
NM_015910.7(WDPCP):c.2079-3C>T
NM_015910.7(WDPCP):c.2083A>G (p.Ile695Val)
NM_015910.7(WDPCP):c.2087T>C (p.Ile696Thr) rs1672025805
NM_015910.7(WDPCP):c.2089G>C (p.Asp697His)
NM_015910.7(WDPCP):c.2102A>C (p.Glu701Ala)
NM_015910.7(WDPCP):c.2107G>C (p.Glu703Gln)
NM_015910.7(WDPCP):c.2123C>A (p.Ser708Tyr) rs1672022341
NM_015910.7(WDPCP):c.2125G>A (p.Gly709Arg) rs1228276176
NM_015910.7(WDPCP):c.2158+14A>G rs1042442806
NM_015910.7(WDPCP):c.2171G>C (p.Arg724Thr)
NM_015910.7(WDPCP):c.218A>G (p.His73Arg) rs1481685257
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val) rs1669577990
NM_015910.7(WDPCP):c.2216A>G (p.Lys739Arg) rs374727283
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser) rs1669575177
NM_015910.7(WDPCP):c.227T>C (p.Leu76Ser)
NM_015910.7(WDPCP):c.242A>G (p.Lys81Arg) rs545984327
NM_015910.7(WDPCP):c.254C>T (p.Ser85Leu) rs886056225
NM_015910.7(WDPCP):c.26C>G (p.Ala9Gly) rs2106583961
NM_015910.7(WDPCP):c.287G>A (p.Arg96His)
NM_015910.7(WDPCP):c.296A>C (p.Lys99Thr) rs772670414
NM_015910.7(WDPCP):c.296A>G (p.Lys99Arg)
NM_015910.7(WDPCP):c.29_31del (p.Tyr10del) rs2106583906
NM_015910.7(WDPCP):c.304G>A (p.Asp102Asn)
NM_015910.7(WDPCP):c.313A>G (p.Lys105Glu) rs2105907063
NM_015910.7(WDPCP):c.324+6T>C rs1700475057
NM_015910.7(WDPCP):c.32C>T (p.Ser11Phe)
NM_015910.7(WDPCP):c.335A>G (p.Gln112Arg)
NM_015910.7(WDPCP):c.344G>A (p.Arg115Gln) rs748871007
NM_015910.7(WDPCP):c.346T>G (p.Cys116Gly)
NM_015910.7(WDPCP):c.385-3T>C rs2105522569
NM_015910.7(WDPCP):c.394G>C (p.Gly132Arg) rs1697389440
NM_015910.7(WDPCP):c.395G>T (p.Gly132Val)
NM_015910.7(WDPCP):c.396T>C (p.Gly132=)
NM_015910.7(WDPCP):c.428G>A (p.Gly143Glu) rs1697385242
NM_015910.7(WDPCP):c.440A>G (p.Glu147Gly)
NM_015910.7(WDPCP):c.442A>G (p.Lys148Glu) rs373247460
NM_015910.7(WDPCP):c.452T>C (p.Ile151Thr)
NM_015910.7(WDPCP):c.467T>G (p.Val156Gly)
NM_015910.7(WDPCP):c.473A>G (p.Lys158Arg)
NM_015910.7(WDPCP):c.47G>A (p.Ser16Asn) rs1709010736
NM_015910.7(WDPCP):c.493A>G (p.Ser165Gly)
NM_015910.7(WDPCP):c.499+3A>G
NM_015910.7(WDPCP):c.514A>C (p.Ser172Arg)
NM_015910.7(WDPCP):c.52G>C (p.Ala18Pro) rs1381507084
NM_015910.7(WDPCP):c.535T>G (p.Leu179Val)
NM_015910.7(WDPCP):c.53C>T (p.Ala18Val)
NM_015910.7(WDPCP):c.549A>T (p.Lys183Asn) rs1697214336
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro) rs1198983391
NM_015910.7(WDPCP):c.5G>A (p.Arg2Lys)
NM_015910.7(WDPCP):c.620C>G (p.Ala207Gly)
NM_015910.7(WDPCP):c.629A>G (p.Tyr210Cys) rs1697208498
NM_015910.7(WDPCP):c.630_631dup (p.Lys211fs) rs769674404
NM_015910.7(WDPCP):c.634-7T>G
NM_015910.7(WDPCP):c.654C>A (p.Pro218=)
NM_015910.7(WDPCP):c.661A>G (p.Ile221Val) rs571641878
NM_015910.7(WDPCP):c.680G>A (p.Arg227Gln)
NM_015910.7(WDPCP):c.680_682del (p.Arg227del)
NM_015910.7(WDPCP):c.688G>T (p.Ala230Ser) rs937072665
NM_015910.7(WDPCP):c.68C>G (p.Pro23Arg)
NM_015910.7(WDPCP):c.68C>T (p.Pro23Leu) rs141340867
NM_015910.7(WDPCP):c.704A>C (p.His235Pro) rs567879550
NM_015910.7(WDPCP):c.71G>A (p.Arg24Lys)
NM_015910.7(WDPCP):c.730C>G (p.Leu244Val) rs1177072150
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys) rs1324126661
NM_015910.7(WDPCP):c.75+3G>C
NM_015910.7(WDPCP):c.76-3C>T rs1700986922
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del) rs774995085
NM_015910.7(WDPCP):c.763A>G (p.Ile255Val) rs764485190
NM_015910.7(WDPCP):c.763A>T (p.Ile255Phe) rs764485190
NM_015910.7(WDPCP):c.779A>T (p.Asp260Val) rs2105466361
NM_015910.7(WDPCP):c.785C>T (p.Ala262Val)
NM_015910.7(WDPCP):c.826-9_826-6del rs2105194923
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg) rs1241185405
NM_015910.7(WDPCP):c.852G>C (p.Trp284Cys) rs2105194171
NM_015910.7(WDPCP):c.869G>A (p.Arg290His) rs753480088
NM_015910.7(WDPCP):c.875G>T (p.Gly292Val)
NM_015910.7(WDPCP):c.922G>A (p.Val308Ile) rs2105192919
NM_015910.7(WDPCP):c.924A>G (p.Val308=) rs201844706
NM_015910.7(WDPCP):c.928A>G (p.Lys310Glu)
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp) rs863224771
NM_015910.7(WDPCP):c.970A>T (p.Asn324Tyr)
NM_015910.7(WDPCP):c.99G>C (p.Gln33His)
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_016038.4(SBDS):c.128+3G>C
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) rs1554341499
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) rs1554341363
NM_016038.4(SBDS):c.326G>C (p.Arg109Thr) rs2129232269
NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)
NM_016042.4(EXOSC3):c.*242A>C rs1828556271
NM_016042.4(EXOSC3):c.*354C>A rs530037792
NM_016042.4(EXOSC3):c.*354C>G rs530037792
NM_016042.4(EXOSC3):c.*419A>G rs1828546518
NM_016042.4(EXOSC3):c.*582A>C rs886063932
NM_016042.4(EXOSC3):c.*812T>G rs886063931
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu) rs372128042
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe) rs749691951
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys) rs745785017
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val) rs2118981494
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser) rs1404319370
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly) rs2118980284
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) rs758230758
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln) rs373193552
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg) rs1828647523
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val) rs754046728
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) rs140199968
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val) rs140199968
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr) rs2118975671
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser) rs561283125
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu) rs767942736
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del) rs755175121
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs) rs1828567719
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del) rs2103862688
NM_016098.4(MPC1):c.220C>A (p.Gln74Lys) rs1779140481
NM_016098.4(MPC1):c.274C>G (p.Leu92Val)
NM_016098.4(MPC1):c.301C>T (p.His101Tyr) rs200694745
NM_016122.3(CEP83):c.1022G>C (p.Arg341Thr)
NM_016122.3(CEP83):c.1036A>G (p.Ser346Gly)
NM_016122.3(CEP83):c.1049G>A (p.Gly350Glu)
NM_016122.3(CEP83):c.1055A>G (p.Gln352Arg) rs2137016531
NM_016122.3(CEP83):c.1064A>T (p.Asn355Ile)
NM_016122.3(CEP83):c.1112A>C (p.Glu371Ala)
NM_016122.3(CEP83):c.1151AAG[2] (p.Glu386del)
NM_016122.3(CEP83):c.1160G>A (p.Gly387Asp)
NM_016122.3(CEP83):c.1175T>G (p.Val392Gly) rs2137014975
NM_016122.3(CEP83):c.1177G>A (p.Val393Ile)
NM_016122.3(CEP83):c.1180T>G (p.Leu394Val)
NM_016122.3(CEP83):c.1193+5G>A rs767362608
NM_016122.3(CEP83):c.1243C>A (p.His415Asn)
NM_016122.3(CEP83):c.1291C>T (p.Arg431Trp) rs111647062
NM_016122.3(CEP83):c.1298C>T (p.Ser433Leu)
NM_016122.3(CEP83):c.1344-4T>G rs766543884
NM_016122.3(CEP83):c.1344G>C (p.Arg448Ser) rs901969513
NM_016122.3(CEP83):c.1354C>A (p.Gln452Lys) rs190452572
NM_016122.3(CEP83):c.1394A>C (p.Lys465Thr)
NM_016122.3(CEP83):c.1400A>G (p.Glu467Gly) rs1281820117
NM_016122.3(CEP83):c.1414A>C (p.Lys472Gln)
NM_016122.3(CEP83):c.1420-5T>C rs2059331926
NM_016122.3(CEP83):c.1437_1438delinsAT (p.Ile480Phe) rs2059330819
NM_016122.3(CEP83):c.1440C>G (p.Ile480Met) rs2136515778
NM_016122.3(CEP83):c.1486A>G (p.Asn496Asp) rs1232030056
NM_016122.3(CEP83):c.1514G>A (p.Arg505Lys)
NM_016122.3(CEP83):c.152C>T (p.Thr51Ile) rs1336325509
NM_016122.3(CEP83):c.1532G>A (p.Arg511Gln) rs587777487
NM_016122.3(CEP83):c.1532G>T (p.Arg511Leu) rs587777487
NM_016122.3(CEP83):c.1537T>A (p.Phe513Ile) rs2136514603
NM_016122.3(CEP83):c.155T>C (p.Leu52Pro) rs1464832161
NM_016122.3(CEP83):c.1578-3C>T
NM_016122.3(CEP83):c.1604G>T (p.Trp535Leu)
NM_016122.3(CEP83):c.1645A>G (p.Arg549Gly)
NM_016122.3(CEP83):c.1661A>G (p.Asn554Ser)
NM_016122.3(CEP83):c.166C>A (p.His56Asn) rs2063937105
NM_016122.3(CEP83):c.1693A>G (p.Ile565Val)
NM_016122.3(CEP83):c.177_197dup (p.His63_Glu69dup) rs755361880
NM_016122.3(CEP83):c.1812-9_1812-5del
NM_016122.3(CEP83):c.1842_1853del (p.Gln616_Leu619del) rs2136276664
NM_016122.3(CEP83):c.1853G>T (p.Arg618Ile) rs2136276642
NM_016122.3(CEP83):c.1895T>C (p.Leu632Pro) rs1969602482
NM_016122.3(CEP83):c.1915C>G (p.Pro639Ala)
NM_016122.3(CEP83):c.1930A>G (p.Ile644Val)
NM_016122.3(CEP83):c.1937C>T (p.Pro646Leu) rs1456934142
NM_016122.3(CEP83):c.1945T>C (p.Phe649Leu)
NM_016122.3(CEP83):c.1962G>A (p.Met654Ile)
NM_016122.3(CEP83):c.1973T>G (p.Met658Arg)
NM_016122.3(CEP83):c.1987C>A (p.Pro663Thr)
NM_016122.3(CEP83):c.1988C>T (p.Pro663Leu)
NM_016122.3(CEP83):c.2002-12C>G
NM_016122.3(CEP83):c.2020G>A (p.Glu674Lys) rs1969381470
NM_016122.3(CEP83):c.2039A>G (p.Lys680Arg) rs2136266090
NM_016122.3(CEP83):c.205G>A (p.Glu69Lys)
NM_016122.3(CEP83):c.2065_2075del (p.Gln689fs) rs1969370890
NM_016122.3(CEP83):c.2066A>G (p.Gln689Arg)
NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg) rs753799181
NM_016122.3(CEP83):c.2099G>A (p.Gly700Glu) rs2136265331
NM_016122.3(CEP83):c.232C>A (p.Gln78Lys) rs372337825
NM_016122.3(CEP83):c.232C>G (p.Gln78Glu) rs372337825
NM_016122.3(CEP83):c.236C>G (p.Thr79Ser) rs928177600
NM_016122.3(CEP83):c.236C>T (p.Thr79Ile) rs928177600
NM_016122.3(CEP83):c.249A>T (p.Lys83Asn) rs2137783837
NM_016122.3(CEP83):c.253C>G (p.Gln85Glu) rs2063897316
NM_016122.3(CEP83):c.256C>T (p.Leu86Phe) rs764215872
NM_016122.3(CEP83):c.284TAG[1] (p.Val96del) rs1472544597
NM_016122.3(CEP83):c.286G>T (p.Val96Leu)
NM_016122.3(CEP83):c.289G>A (p.Glu97Lys)
NM_016122.3(CEP83):c.391A>G (p.Arg131Gly) rs1207892286
NM_016122.3(CEP83):c.398G>A (p.Arg133His)
NM_016122.3(CEP83):c.404G>C (p.Arg135Thr)
NM_016122.3(CEP83):c.412G>A (p.Asp138Asn) rs2137619045
NM_016122.3(CEP83):c.428A>C (p.Lys143Thr)
NM_016122.3(CEP83):c.445A>G (p.Asn149Asp)
NM_016122.3(CEP83):c.455G>T (p.Arg152Leu) rs767118598
NM_016122.3(CEP83):c.464A>G (p.His155Arg) rs2137576540
NM_016122.3(CEP83):c.469T>A (p.Phe157Ile) rs768860397
NM_016122.3(CEP83):c.485T>A (p.Phe162Tyr)
NM_016122.3(CEP83):c.48T>G (p.Phe16Leu)
NM_016122.3(CEP83):c.490C>G (p.His164Asp)
NM_016122.3(CEP83):c.497A>C (p.Lys166Thr) rs2137575785
NM_016122.3(CEP83):c.508G>A (p.Ala170Thr)
NM_016122.3(CEP83):c.535A>C (p.Lys179Gln) rs2137574851
NM_016122.3(CEP83):c.565G>A (p.Glu189Lys)
NM_016122.3(CEP83):c.578A>G (p.Glu193Gly)
NM_016122.3(CEP83):c.584G>A (p.Arg195His) rs201341346
NM_016122.3(CEP83):c.584G>T (p.Arg195Leu) rs201341346
NM_016122.3(CEP83):c.607C>T (p.Leu203Phe)
NM_016122.3(CEP83):c.613A>G (p.Lys205Glu) rs770141064
NM_016122.3(CEP83):c.618C>G (p.Asp206Glu) rs2137174153
NM_016122.3(CEP83):c.643C>G (p.Arg215Gly) rs750092874
NM_016122.3(CEP83):c.644G>A (p.Arg215Gln) rs1482040800
NM_016122.3(CEP83):c.655T>C (p.Tyr219His)
NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr) rs1289383879
NM_016122.3(CEP83):c.690A>T (p.Glu230Asp) rs763230501
NM_016122.3(CEP83):c.706G>A (p.Ala236Thr) rs2061688656
NM_016122.3(CEP83):c.712A>G (p.Lys238Glu) rs777216890
NM_016122.3(CEP83):c.737A>G (p.Glu246Gly) rs2061686966
NM_016122.3(CEP83):c.742G>A (p.Ala248Thr) rs2061686704
NM_016122.3(CEP83):c.764A>G (p.Gln255Arg) rs2061685409
NM_016122.3(CEP83):c.810A>C (p.Lys270Asn) rs764377749
NM_016122.3(CEP83):c.812A>C (p.Gln271Pro) rs2061515059
NM_016122.3(CEP83):c.827G>C (p.Arg276Pro)
NM_016122.3(CEP83):c.836_837inv (p.Arg279His)
NM_016122.3(CEP83):c.895C>A (p.His299Asn)
NM_016122.3(CEP83):c.933+4A>C
NM_016122.3(CEP83):c.964G>A (p.Glu322Lys)
NM_016122.3(CEP83):c.980A>G (p.Lys327Arg) rs752116946
NM_016194.4(GNB5):c.292A>G (p.Arg98Gly)
NM_016194.4(GNB5):c.790A>G (p.Met264Val) rs2033629123
NM_016219.5(MAN1B1):c.*258C>T rs755189897
NM_016219.5(MAN1B1):c.*470C>T rs558804715
NM_016219.5(MAN1B1):c.*498G>C rs886063734
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys) rs1038179177
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn) rs756197449
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del) rs538804415
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016219.5(MAN1B1):c.1445+6G>T
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln) rs775259244
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) rs1168317937
NM_016219.5(MAN1B1):c.155T>C (p.Val52Ala)
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=) rs774835139
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=) rs886063730
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys) rs1017935955
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn) rs929390325
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=) rs886063731
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile) rs797045687
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=) rs34355967
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys) rs371136351
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val) rs1830422438
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
NM_016219.5(MAN1B1):c.329-9G>C
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
NM_016219.5(MAN1B1):c.38G>C (p.Gly13Ala)
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=) rs886063727
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr) rs2131002805
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val) rs886063728
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly) rs2131002949
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu) rs200410163
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly) rs145554887
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
NM_016219.5(MAN1B1):c.730+5G>A
NM_016219.5(MAN1B1):c.731-8C>T rs375902720
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs) rs1190243291
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala) rs546612497
NM_016239.4(MYO15A):c.*210A>G rs2047054945
NM_016239.4(MYO15A):c.*324T>G rs2047056207
NM_016239.4(MYO15A):c.*369C>T rs2047056989
NM_016239.4(MYO15A):c.*473G>A rs145664637
NM_016239.4(MYO15A):c.*515C>G rs886052684
NM_016239.4(MYO15A):c.*797C>T rs2047061875
NM_016239.4(MYO15A):c.-223G>T rs1027357950
NM_016239.4(MYO15A):c.-224C>T rs189693278
NM_016239.4(MYO15A):c.-236C>A rs890566879
NM_016239.4(MYO15A):c.-33G>C rs775907651
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) rs952306971
NM_016239.4(MYO15A):c.10350+6T>C rs2142431211
NM_016239.4(MYO15A):c.1043C>A (p.Pro348Gln) rs202142174
NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs) rs2142436821
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)
NM_016239.4(MYO15A):c.1162G>A (p.Gly388Arg) rs886052667
NM_016239.4(MYO15A):c.1450C>G (p.Gln484Glu) rs886052668
NM_016239.4(MYO15A):c.1903G>C (p.Ala635Pro) rs757367598
NM_016239.4(MYO15A):c.2019G>T (p.Gly673=) rs886052669
NM_016239.4(MYO15A):c.2070G>C (p.Pro690=) rs761069955
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro) rs776096881
NM_016239.4(MYO15A):c.2259G>T (p.Ala753=) rs886052670
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) rs1567624190
NM_016239.4(MYO15A):c.2612C>T (p.Thr871Met) rs1307503143
NM_016239.4(MYO15A):c.2670C>T (p.Pro890=) rs886052671
NM_016239.4(MYO15A):c.2766G>A (p.Val922=)
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) rs1597757405
NM_016239.4(MYO15A):c.2978A>C (p.His993Pro) rs1334008869
NM_016239.4(MYO15A):c.3140C>A (p.Pro1047His) rs77565048
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) rs375451997
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) rs2142262660
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr) rs1365097671
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) rs1364265842
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly) rs2142282291
NM_016239.4(MYO15A):c.3971C>A (p.Ala1324Asp) rs1261541284
NM_016239.4(MYO15A):c.4037A>G (p.Lys1346Arg) rs2046141865
NM_016239.4(MYO15A):c.4038+11T>A rs765835098
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) rs1003360290
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) rs2142300755
NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr) rs2142304025
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr) rs1597779977
NM_016239.4(MYO15A):c.4391T>C (p.Val1464Ala) rs1230470125
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) rs201076604
NM_016239.4(MYO15A):c.4507G>T (p.Val1503Leu) rs2046254630
NM_016239.4(MYO15A):c.4567C>A (p.Leu1523Met) rs2046256041
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) rs1597748342
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu) rs201423655
NM_016239.4(MYO15A):c.4611G>T (p.Glu1537Asp) rs886052673
NM_016239.4(MYO15A):c.4676T>C (p.Leu1559Ser) rs1391365421
NM_016239.4(MYO15A):c.4784T>C (p.Leu1595Pro) rs1368423304
NM_016239.4(MYO15A):c.4817A>G (p.Asn1606Ser) rs2142323278
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.5058C>A (p.Asn1686Lys) rs886052674
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) rs2142328605
NM_016239.4(MYO15A):c.5212-13G>A rs772088992
NM_016239.4(MYO15A):c.5360G>A (p.Arg1787Lys) rs2142335062
NM_016239.4(MYO15A):c.5407-5T>G rs766660598
NM_016239.4(MYO15A):c.5492del (p.Gly1831fs) rs747371923
NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro) rs1253612362
NM_016239.4(MYO15A):c.5557C>G (p.His1853Asp) rs747691685
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) rs2142341062
NM_016239.4(MYO15A):c.5709T>A (p.Asn1903Lys) rs886052675
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6338T>A (p.Ile2113Asn) rs2046471942
NM_016239.4(MYO15A):c.63G>A (p.Pro21=) rs769609152
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) rs1567649779
NM_016239.4(MYO15A):c.655T>G (p.Ser219Ala) rs886052666
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile) rs777487622
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6668C>G (p.Ala2223Gly)
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu) rs2046528137
NM_016239.4(MYO15A):c.7180C>G (p.Leu2394Val) rs1266157227
NM_016239.4(MYO15A):c.735C>G (p.Tyr245Ter) rs758073713
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) rs201119351
NM_016239.4(MYO15A):c.7662C>A (p.Pro2554=) rs2046579702
NM_016239.4(MYO15A):c.7786A>G (p.Arg2596Gly) rs886052677
NM_016239.4(MYO15A):c.7894-3C>T rs2046594455
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.4(MYO15A):c.8054A>G (p.Gln2685Arg) rs965967475
NM_016239.4(MYO15A):c.8083A>C (p.Lys2695Gln)
NM_016239.4(MYO15A):c.8089-7C>G rs2046633903
NM_016239.4(MYO15A):c.8108G>C (p.Ser2703Thr) rs886052678
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser) rs183969516
NM_016239.4(MYO15A):c.8305T>A (p.Trp2769Arg)
NM_016239.4(MYO15A):c.8315A>C (p.Tyr2772Ser) rs892416685
NM_016239.4(MYO15A):c.8443G>A (p.Val2815Ile) rs886052680
NM_016239.4(MYO15A):c.8459G>C (p.Ser2820Thr) rs2142382409
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) rs2142384242
NM_016239.4(MYO15A):c.853G>A (p.Asp285Asn) rs2045868127
NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro) rs568612566
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)
NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg)
NM_016239.4(MYO15A):c.894C>G (p.Pro298=) rs199858487
NM_016239.4(MYO15A):c.9083+7G>A rs886052681
NM_016239.4(MYO15A):c.9157-9C>A rs886052682
NM_016239.4(MYO15A):c.9231T>C (p.Ala3077=) rs769414205
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro) rs373695303
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) rs2046774616
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) rs2142399231
NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg) rs2046776291
NM_016239.4(MYO15A):c.9532T>C (p.Cys3178Arg) rs2046792650
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) rs780798446
NM_016239.4(MYO15A):c.9691-3C>T rs142996507
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) rs2142412720
NM_016239.4(MYO15A):c.9868A>G (p.Met3290Val) rs2142412949
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) rs2142413074
NM_016239.4(MYO15A):c.9948+11G>C rs200712715
NM_016239.4(MYO15A):c.9984T>C (p.Ser3328=) rs748890115
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly) rs137880766
NM_016302.4(CRBN):c.40A>T (p.Met14Leu) rs753095651
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) rs1393437679
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg) rs756047736
NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val) rs375119774
NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
NM_016356.5(DCDC2):c.698C>T (p.Pro233Leu)
NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) rs948355469
NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp) rs1438044739
NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His) rs748676214
NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro) rs77150627
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) rs1416369642
NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)
NM_016366.3(CABP2):c.127C>T (p.Pro43Ser)
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg)
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro) rs1429449710
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile)
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys) rs766309882
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala) rs200699154
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu) rs2151386361
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro) rs1266850996
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe)
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)
NM_016373.4(WWOX):c.1057-2A>G rs1233583078
NM_016373.4(WWOX):c.1057-3C>T rs143302415
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro) rs1567624901
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser) rs1555547940
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile) rs1555547940
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile) rs1316489119
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg) rs2051754918
NM_016373.4(WWOX):c.109C>G (p.His37Asp) rs770653451
NM_016373.4(WWOX):c.10C>G (p.Leu4Val) rs751733610
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp) rs780816542
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu) rs1064793798
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg) rs1400576596
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val) rs769877812
NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys) rs377129275
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys) rs2051758116
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys) rs201088847
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser) rs200461412
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro) rs202002431
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu) rs202002431
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr) rs1567625134
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg) rs2051759512
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu) rs1351213477
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del) rs1301923654
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro) rs1060502729
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg) rs372635911
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys) rs375757102
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln) rs375757102
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val) rs1287638259
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp) rs763482100
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs) rs1064792969
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr) rs767286260
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly) rs750042007
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys) rs200839945
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln) rs200839945
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu) rs1197462916
NM_016373.4(WWOX):c.1218A>C (p.Gln406His) rs767985798
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) rs765857107
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) rs117065412
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del) rs2051765287
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser) rs2150868322
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg) rs754384834
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser)
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg) rs2032292763
NM_016373.4(WWOX):c.15C>G (p.Arg5=) rs2031625331
NM_016373.4(WWOX):c.164T>G (p.Val55Gly) rs775944673
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly) rs2032380473
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg) rs775696083
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser) rs752003995
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr) rs2032382985
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly) rs1567575033
NM_016373.4(WWOX):c.230+3A>T rs746149234
NM_016373.4(WWOX):c.230+6T>C
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly) rs2032385595
NM_016373.4(WWOX):c.231-5G>A
NM_016373.4(WWOX):c.233A>G (p.His78Arg) rs375002918
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile) rs751493396
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp) rs781063964
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu) rs368902462
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr)
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg) rs200371768
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys) rs2151674621
NM_016373.4(WWOX):c.272C>T (p.Ala91Val)
NM_016373.4(WWOX):c.287A>T (p.Asp96Val) rs776969977
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser) rs574637594
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile) rs2032705453
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp) rs750226191
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp) rs2151674746
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu) rs377442022
NM_016373.4(WWOX):c.32A>T (p.Asp11Val) rs1597189624
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile) rs114755364
NM_016373.4(WWOX):c.340A>G (p.Met114Val) rs1402250109
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile) rs1397160477
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg) rs752982374
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln) rs1355355411
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly) rs576113059
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile) rs2151674876
NM_016373.4(WWOX):c.374A>G (p.Lys125Arg)
NM_016373.4(WWOX):c.376G>C (p.Val126Leu) rs2151674893
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser)
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg) rs2151674915
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr)
NM_016373.4(WWOX):c.408A>G (p.Ile136Met)
NM_016373.4(WWOX):c.409+4G>A rs2032715333
NM_016373.4(WWOX):c.409+6C>T
NM_016373.4(WWOX):c.410-6C>G rs1488901499
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala) rs761879076
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln) rs764089824
NM_016373.4(WWOX):c.422C>T (p.Ala141Val) rs990349398
NM_016373.4(WWOX):c.440A>C (p.His147Pro) rs188859796
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly) rs1024835941
NM_016373.4(WWOX):c.446C>T (p.Ala149Val) rs1024835941
NM_016373.4(WWOX):c.449A>T (p.His150Leu)
NM_016373.4(WWOX):c.454A>G (p.Ile152Val) rs961514796
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp) rs770319919
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr) rs2034896161
NM_016373.4(WWOX):c.513A>G (p.Glu171=) rs1060502728
NM_016373.4(WWOX):c.516+6_516+7inv
NM_016373.4(WWOX):c.517-108226G>T rs1057518676
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu) rs766451936
NM_016373.4(WWOX):c.52C>A (p.Leu18Met) rs776553279
NM_016373.4(WWOX):c.52C>G (p.Leu18Val) rs776553279
NM_016373.4(WWOX):c.530T>C (p.Val177Ala) rs2151934103
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro) rs2082072058
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe) rs753965511
NM_016373.4(WWOX):c.554C>T (p.Ala185Val)
NM_016373.4(WWOX):c.556C>G (p.Leu186Val) rs772539448
NM_016373.4(WWOX):c.560T>A (p.Leu187His) rs2151934150
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016373.4(WWOX):c.568G>C (p.Val190Leu)
NM_016373.4(WWOX):c.568G>T (p.Val190Leu) rs769400934
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala) rs2151934166
NM_016373.4(WWOX):c.587C>T (p.Ala196Val) rs754102799
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu) rs1199254958
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly) rs890212192
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg) rs761638116
NM_016373.4(WWOX):c.604G>A (p.Val202Met)
NM_016373.4(WWOX):c.605+6_605+18del rs775621555
NM_016373.4(WWOX):c.606G>C (p.Val202=) rs1232120355
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile) rs866341813
NM_016373.4(WWOX):c.614A>G (p.His205Arg) rs770649734
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) rs767929766
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn) rs753602303
NM_016373.4(WWOX):c.640T>G (p.Phe214Val)
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr) rs1474238209
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg) rs777579075
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu)
NM_016373.4(WWOX):c.658C>T (p.Leu220Phe)
NM_016373.4(WWOX):c.668A>T (p.Asp223Val) rs1392246150
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys) rs1231403909
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro) rs1567565338
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser) rs761250135
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile) rs761250135
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu) rs1057524749
NM_016373.4(WWOX):c.702G>A (p.Leu234=) rs2151959991
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu) rs769589145
NM_016373.4(WWOX):c.736G>A (p.Val246Ile) rs1262275069
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser) rs749277249
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys) rs749277249
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser) rs896783193
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly) rs771068553
NM_016373.4(WWOX):c.761G>A (p.Arg254His)
NM_016373.4(WWOX):c.764T>C (p.Val255Ala)
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe) rs1023419687
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr) rs775895501
NM_016373.4(WWOX):c.779C>T (p.Ser260Leu)
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del) rs763124571
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly) rs1464495960
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly) rs756762196
NM_016373.4(WWOX):c.791+4G>C
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)
NM_016373.4(WWOX):c.792A>G (p.Arg264=)
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile) rs2083245410
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr) rs1336300148
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser) rs1336300148
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly)
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala) rs2083246915
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn)
NM_016373.4(WWOX):c.838C>G (p.Leu280Val)
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe) rs1567570252
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln)
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu) rs770542796
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala) rs1037290766
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser)
NM_016373.4(WWOX):c.856G>C (p.Asp286His) rs374658336
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr) rs374658336
NM_016373.4(WWOX):c.869T>C (p.Met290Thr) rs1035627222
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) rs119487098
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro) rs376560613
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser) rs376560613
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys) rs2151386030
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr)
NM_016373.4(WWOX):c.892C>G (p.Leu298Val)
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser) rs1860301714
NM_016373.4(WWOX):c.8C>T (p.Ala3Val) rs1241157001
NM_016373.4(WWOX):c.903C>G (p.Ile301Met) rs758799029
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe) rs757597956
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys) rs201818301
NM_016373.4(WWOX):c.923A>G (p.His308Arg) rs2151386107
NM_016373.4(WWOX):c.924C>G (p.His308Gln) rs774296956
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe) rs1455737775
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe) rs79399971
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg)
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro) rs73572838
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg) rs768172617
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg) rs768172617
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp) rs768172617
NM_016373.4(WWOX):c.94G>A (p.Val32Ile) rs2031635728
NM_016373.4(WWOX):c.961G>C (p.Val321Leu) rs2081146962
NM_016373.4(WWOX):c.965A>G (p.His322Arg) rs878855022
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg) rs1567570468
NM_016373.4(WWOX):c.978G>C (p.Met326Ile) rs748074874
NM_016373.4(WWOX):c.978G>T (p.Met326Ile) rs748074874
NM_016373.4(WWOX):c.980T>G (p.Met327Arg) rs1567570484
NM_016373.4(WWOX):c.993T>G (p.Ile331Met)
NM_016373.4(WWOX):c.994C>G (p.His332Asp)
NM_016373.4(WWOX):c.994C>T (p.His332Tyr) rs923399366
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.129-19C>G rs2135157682
NM_016464.5(TMEM138):c.129-3C>T
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly) rs1858060748
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu) rs1858140604
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln) rs2135158062
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe) rs1858141854
NM_016464.5(TMEM138):c.227A>G (p.His76Arg) rs1411782602
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys) rs2135158354
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu) rs2135163033
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile) rs932618021
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr) rs1350244778
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val) rs1045760713
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser) rs1349854928
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile) rs141029883
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu) rs2135165565
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs) rs890070939
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter) rs1000923142
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) rs1565076874
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1312A>G (p.Met438Val) rs2039065206
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.2473G>C (p.Asp825His) rs796952533
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
NM_016529.6(ATP8A2):c.3273-3C>G rs748588986
NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys) rs200449118
NM_016929.5(CLIC5):c.401A>G (p.Asn134Ser)
NM_016938.5(EFEMP2):c.*3A>G rs886048505
NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)
NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp)
NM_016938.5(EFEMP2):c.111+4_111+12del rs2134753586
NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=) rs146180527
NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro)
NM_016938.5(EFEMP2):c.1156G>A (p.Asp386Asn)
NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His) rs777806636
NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His)
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)
NM_016938.5(EFEMP2):c.1170+1G>A rs1859884792
NM_016938.5(EFEMP2):c.1174del (p.Ile392fs) rs1591064775
NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)
NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu) rs543567156
NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr)
NM_016938.5(EFEMP2):c.1210C>A (p.Pro404Thr)
NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu) rs753393039
NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=)
NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val) rs1859861811
NM_016938.5(EFEMP2):c.1228G>C (p.Glu410Gln)
NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met) rs146879673
NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu) rs146879673
NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val) rs1565272014
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu) rs1591064625
NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) rs936904481
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) rs886048506
NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp) rs2134752336
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr) rs1859961874
NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp) rs1591067819
NM_016938.5(EFEMP2):c.248G>A (p.Arg83His) rs1281626120
NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn) rs1859960797
NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu) rs780659504
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)
NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys) rs2134753788
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn) rs756326099
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.404G>A (p.Arg135His) rs773352910
NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr)
NM_016938.5(EFEMP2):c.437_439del (p.Ser146del) rs2134751198
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)
NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln)
NM_016938.5(EFEMP2):c.491-13C>G
NM_016938.5(EFEMP2):c.491-5C>G rs749980581
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) rs1859941615
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His) rs772504760
NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp)
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)
NM_016938.5(EFEMP2):c.608-5_608-4delinsAG
NM_016938.5(EFEMP2):c.616G>A (p.Glu206Lys) rs1450189245
NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile)
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) rs1442174846
NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys)
NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser)
NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile)
NM_016938.5(EFEMP2):c.727+19C>G
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_016938.5(EFEMP2):c.774_776delinsTGC (p.Ile259Ala) rs1859906581
NM_016938.5(EFEMP2):c.778_780del (p.Asn260del)
NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr) rs1436359315
NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser)
NM_016938.5(EFEMP2):c.851T>C (p.Ile284Thr) rs1859902632
NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln) rs752273286
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) rs753778921
NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser) rs769829583
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)
NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn) rs758052109
NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal)
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) rs113167523
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) rs759573856
NM_016938.5(EFEMP2):c.975-5T>G
NM_017414.4(USP18):c.907G>A (p.Glu303Lys)
NM_017433.5(MYO3A):c.*422C>G rs886046930
NM_017433.5(MYO3A):c.*538G>T rs918987227
NM_017433.5(MYO3A):c.-109C>T rs1835892283
NM_017433.5(MYO3A):c.-37A>G rs564519092
NM_017433.5(MYO3A):c.-50A>G rs886046917
NM_017433.5(MYO3A):c.1111G>A (p.Val371Met) rs1835017150
NM_017433.5(MYO3A):c.1561A>C (p.Ile521Leu) rs1198353048
NM_017433.5(MYO3A):c.1588dup (p.Tyr530fs) rs1564543838
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.1792T>C (p.Tyr598His) rs886046923
NM_017433.5(MYO3A):c.2016C>T (p.Thr672=) rs56207573
NM_017433.5(MYO3A):c.2188G>A (p.Glu730Lys) rs138617479
NM_017433.5(MYO3A):c.2263-3T>G rs750600802
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.5(MYO3A):c.2870A>G (p.Glu957Gly) rs764192576
NM_017433.5(MYO3A):c.332T>C (p.Leu111Pro) rs886046918
NM_017433.5(MYO3A):c.3661C>G (p.Leu1221Val) rs886046924
NM_017433.5(MYO3A):c.3774A>T (p.Leu1258=) rs1842186862
NM_017433.5(MYO3A):c.3862A>G (p.Thr1288Ala) rs886046925
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017433.5(MYO3A):c.4743G>A (p.Ala1581=) rs886046927
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) rs773432148
NM_017433.5(MYO3A):c.938G>A (p.Gly313Asp) rs527881627
NM_017613.4(DONSON):c.631C>G (p.Arg211Gly) rs774052186
NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro) rs561853521
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp) rs774357851
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=) rs1971378002
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn) rs1971475798
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1]) rs1028125077
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
NM_017721.5(CC2D1A):c.2836-3C>A
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys) rs1568405628
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile) rs781498477
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.-144C>T rs1571674193
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile) rs1027415099
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr) rs1658356810
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del) rs2148194204
NM_017739.4(POMGNT1):c.1022A>G (p.Tyr341Cys)
NM_017739.4(POMGNT1):c.1026+3G>A
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His) rs754255569
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met) rs2148192741
NM_017739.4(POMGNT1):c.104T>A (p.Leu35Gln) rs2148222413
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp) rs1195736220
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp) rs2148192555
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.4(POMGNT1):c.1085G>C (p.Ser362Thr)
NM_017739.4(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
NM_017739.4(POMGNT1):c.1110+3A>G
NM_017739.4(POMGNT1):c.1110+5T>A
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr) rs140846775
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu) rs2148191200
NM_017739.4(POMGNT1):c.1152+3G>A rs1657923881
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln) rs2148189653
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val) rs1657900516
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg) rs1351958771
NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser) rs374639571
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met) rs779045970
NM_017739.4(POMGNT1):c.116G>C (p.Cys39Ser) rs775392834
NM_017739.4(POMGNT1):c.120+4T>C rs1223030962
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) rs1657895778
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=) rs1658354104
NM_017739.4(POMGNT1):c.121-3C>T rs2148219601
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.1211+6G>A
NM_017739.4(POMGNT1):c.1212-3C>G
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr) rs1259024068
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.4(POMGNT1):c.127G>A (p.Ala43Thr)
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
NM_017739.4(POMGNT1):c.1284+3A>C
NM_017739.4(POMGNT1):c.1284+4G>A rs2148187138
NM_017739.4(POMGNT1):c.1284+6C>T
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr) rs2148186054
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp) rs2148185834
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile) rs1571655190
NM_017739.4(POMGNT1):c.134T>A (p.Leu45His) rs2148219431
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
NM_017739.4(POMGNT1):c.1377G>C (p.Lys459Asn)
NM_017739.4(POMGNT1):c.1387G>C (p.Glu463Gln)
NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) rs1657843296
NM_017739.4(POMGNT1):c.1402A>G (p.Thr468Ala)
NM_017739.4(POMGNT1):c.1403C>T (p.Thr468Ile) rs2148185390
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
NM_017739.4(POMGNT1):c.144G>A (p.Leu48=) rs776815245
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1456C>T (p.Arg486Trp)
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu) rs753120009
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe) rs17102066
NM_017739.4(POMGNT1):c.151G>A (p.Val51Ile) rs2148219344
NM_017739.4(POMGNT1):c.1521C>G (p.Asn507Lys) rs767617711
NM_017739.4(POMGNT1):c.1523T>C (p.Met508Thr) rs1571653937
NM_017739.4(POMGNT1):c.1539+16G>T rs2148183113
NM_017739.4(POMGNT1):c.1540-16C>G
NM_017739.4(POMGNT1):c.1540-3C>T
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
NM_017739.4(POMGNT1):c.1571C>G (p.Thr524Arg) rs769180238
NM_017739.4(POMGNT1):c.1588C>T (p.Leu530Phe)
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu) rs1657700266
NM_017739.4(POMGNT1):c.1605-15C>T
NM_017739.4(POMGNT1):c.1605-3C>T rs1457187510
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys) rs1657679725
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala) rs1657678070
NM_017739.4(POMGNT1):c.1636C>T (p.His546Tyr) rs970460430
NM_017739.4(POMGNT1):c.163A>G (p.Ile55Val) rs2148219236
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro) rs753688195
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.169T>G (p.Leu57Val)
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) rs1553164303
NM_017739.4(POMGNT1):c.1708A>G (p.Thr570Ala)
NM_017739.4(POMGNT1):c.1711G>A (p.Glu571Lys)
NM_017739.4(POMGNT1):c.1712A>G (p.Glu571Gly) rs1204034604
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr) rs1343659692
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del) rs777715386
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys) rs1657578489
NM_017739.4(POMGNT1):c.1838G>A (p.Arg613Lys)
NM_017739.4(POMGNT1):c.1844T>G (p.Phe615Cys) rs2148163569
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly) rs763071717
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) rs763071717
NM_017739.4(POMGNT1):c.1848GAA[2] (p.Lys618del) rs1435566919
NM_017739.4(POMGNT1):c.184C>G (p.Arg62Gly) rs1352412667
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp) rs1352412667
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln) rs779506923
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met) rs1657559085
NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu) rs1285505849
NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu) rs2148162135
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile) rs748799436
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser) rs1442072528
NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala) rs2148161781
NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)
NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln) rs752942416
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp) rs2148161681
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly) rs2148222925
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser) rs2148218769
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn) rs1658296449
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu) rs748566125
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu) rs373866304
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln) rs1658280808
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser) rs1557677993
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp) rs761706300
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu) rs1334885135
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met) rs781102649
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp) rs2148217123
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu) rs762760509
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala) rs2148216895
NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
NM_017739.4(POMGNT1):c.354+6T>C rs1208898067
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017739.4(POMGNT1):c.355-8C>G rs2148213723
NM_017739.4(POMGNT1):c.373C>G (p.Arg125Gly)
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
NM_017739.4(POMGNT1):c.374G>A (p.Arg125Gln)
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp) rs1197810838
NM_017739.4(POMGNT1):c.38T>G (p.Phe13Cys)
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val) rs771101711
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.420+3G>C
NM_017739.4(POMGNT1):c.420+4A>G
NM_017739.4(POMGNT1):c.421-10C>A rs2148212526
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp) rs2148212411
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val) rs2148212293
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys) rs886044363
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.476C>A (p.Ala159Asp) rs2148211902
NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val) rs2148211802
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu) rs1271259700
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser) rs1164265990
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.52A>G (p.Lys18Glu) rs1553164287
NM_017739.4(POMGNT1):c.541G>A (p.Gly181Ser) rs2148205851
NM_017739.4(POMGNT1):c.544T>C (p.Ser182Pro) rs2148205834
NM_017739.4(POMGNT1):c.557A>G (p.Lys186Arg) rs2148205697
NM_017739.4(POMGNT1):c.55C>T (p.Arg19Trp) rs757941122
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val) rs1658103117
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr) rs982953590
NM_017739.4(POMGNT1):c.61T>C (p.Trp21Arg) rs2148222670
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
NM_017739.4(POMGNT1):c.626C>T (p.Thr209Ile) rs1571664089
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg) rs1658098171
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr) rs1201476826
NM_017739.4(POMGNT1):c.652+3G>A
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile) rs1349291334
NM_017739.4(POMGNT1):c.664G>C (p.Gly222Arg)
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp) rs1658072717
NM_017739.4(POMGNT1):c.686C>T (p.Pro229Leu)
NM_017739.4(POMGNT1):c.688G>A (p.Ala230Thr)
NM_017739.4(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_017739.4(POMGNT1):c.6C>G (p.Asp2Glu)
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) rs766907690
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe) rs2148222600
NM_017739.4(POMGNT1):c.751+3G>A
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys) rs2148201993
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val) rs2148200734
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
NM_017739.4(POMGNT1):c.7G>C (p.Asp3His) rs201637813
NM_017739.4(POMGNT1):c.808A>G (p.Ser270Gly) rs1216011919
NM_017739.4(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe) rs1658035130
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His) rs930277247
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val) rs2148196499
NM_017739.4(POMGNT1):c.921T>A (p.Ile307=) rs71653997
NM_017739.4(POMGNT1):c.927G>T (p.Gly309=) rs1375679237
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys) rs1657992159
NM_017739.4(POMGNT1):c.97C>T (p.Arg33Trp) rs750839370
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)
NM_017755.6(NSUN2):c.*532A>G rs1317432691
NM_017755.6(NSUN2):c.*619G>A rs1018606113
NM_017755.6(NSUN2):c.*97C>A rs759455426
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu) rs1560975832
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)
NM_017755.6(NSUN2):c.138G>A (p.Lys46=) rs886060729
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala) rs1736795903
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
NM_017755.6(NSUN2):c.1818+4A>G rs1736685253
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met) rs139224594
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly) rs747908747
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu) rs1736492714
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser) rs1736479408
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile) rs2126513553
NM_017755.6(NSUN2):c.604A>G (p.Met202Val) rs1737468532
NM_017755.6(NSUN2):c.615C>A (p.Pro205=) rs773951967
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys) rs1456146368
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly) rs1737229372
NM_017777.3(MKS1):c.-34_-12del rs1244307754
NM_017777.4(MKS1):c.-20C>G rs115507363
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala) rs886053169
NM_017777.4(MKS1):c.1273+4A>G rs948397956
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1598G>A (p.Arg533His) rs779093781
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser) rs886053170
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr) rs1969184476
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.466G>A (p.Val156Ile)
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp) rs201237547
NM_017777.4(MKS1):c.80+14C>G rs761061379
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017791.3(FLVCR2):c.*1003G>A rs549464206
NM_017791.3(FLVCR2):c.*1322G>A rs1566800405
NM_017791.3(FLVCR2):c.*1613C>T rs1890460668
NM_017791.3(FLVCR2):c.*379T>C rs886050789
NM_017791.3(FLVCR2):c.*513A>G rs1890435742
NM_017791.3(FLVCR2):c.*517C>T rs188459017
NM_017791.3(FLVCR2):c.*644G>A rs1890438951
NM_017791.3(FLVCR2):c.*856T>C rs1890443552
NM_017791.3(FLVCR2):c.*98T>C rs886050788
NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=) rs886050787
NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu) rs1566799791
NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys) rs1566799795
NM_017791.3(FLVCR2):c.360C>G (p.Ala120=) rs906645811
NM_017791.3(FLVCR2):c.669+8G>C rs769337002
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_017807.4(OSGEP):c.317G>T (p.Gly106Val) rs1881115384
NM_017807.4(OSGEP):c.711_712del (p.Phe238fs)
NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg) rs1880982246
NM_017807.4(OSGEP):c.875G>A (p.Cys292Tyr)
NM_017807.4(OSGEP):c.892A>T (p.Met298Leu) rs1566507605
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017825.3(ADPRS):c.384G>A (p.Leu128=) rs138995178
NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp) rs866152144
NM_017825.3(ADPRS):c.544C>T (p.His182Tyr) rs2124055158
NM_017825.3(ADPRS):c.545A>G (p.His182Arg)
NM_017825.3(ADPRS):c.639_642del (p.Lys213fs) rs1643491610
NM_017875.4(SLC25A38):c.*548G>A rs531997173
NM_017875.4(SLC25A38):c.*718G>A rs2041842608
NM_017875.4(SLC25A38):c.-15C>A rs1373209338
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
NM_017929.5(PEX26):c.-164G>T rs1926353199
NM_017929.5(PEX26):c.-207T>C rs905580400
NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr) rs1845596397
NM_018075.5(ANO10):c.*165G>A rs951493321
NM_018075.5(ANO10):c.*438A>T rs376644560
NM_018075.5(ANO10):c.*464C>T rs886058475
NM_018075.5(ANO10):c.*569T>C rs1044107285
NM_018075.5(ANO10):c.*74dup rs556549778
NM_018075.5(ANO10):c.-95del rs886058483
NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter) rs144272231
NM_018075.5(ANO10):c.1218+4A>T rs886058479
NM_018075.5(ANO10):c.1277T>C (p.Met426Thr) rs768830099
NM_018075.5(ANO10):c.127A>G (p.Lys43Glu) rs747139453
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1339A>T (p.Met447Leu) rs745940196
NM_018075.5(ANO10):c.1416A>C (p.Ala472=) rs886058478
NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu) rs886058477
NM_018075.5(ANO10):c.1683G>C (p.Thr561=) rs141040660
NM_018075.5(ANO10):c.192A>G (p.Leu64=) rs146432615
NM_018075.5(ANO10):c.218G>A (p.Gly73Asp) rs2149481812
NM_018075.5(ANO10):c.338-11T>C rs774494441
NM_018075.5(ANO10):c.616del (p.Glu206fs) rs886058481
NM_018075.5(ANO10):c.857C>T (p.Pro286Leu) rs375157457
NM_018075.5(ANO10):c.882C>G (p.Ile294Met) rs2081034644
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu) rs1057518710
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro) rs761755004
NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr)
NM_018131.5(CEP55):c.379G>A (p.Val127Ile)
NM_018136.5(ASPM):c.-189C>G rs867409096
NM_018136.5(ASPM):c.-214T>C rs886045781
NM_018136.5(ASPM):c.10039T>C (p.Leu3347=) rs886045760
NM_018136.5(ASPM):c.10095C>T (p.Gly3365=) rs886045759
NM_018136.5(ASPM):c.10100G>A (p.Ser3367Asn) rs587783208
NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr)
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
NM_018136.5(ASPM):c.1201A>G (p.Met401Val) rs587783217
NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala) rs1658644883
NM_018136.5(ASPM):c.1495A>G (p.Lys499Glu) rs587783219
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
NM_018136.5(ASPM):c.17T>C (p.Val6Ala) rs886045779
NM_018136.5(ASPM):c.1841T>C (p.Val614Ala) rs1658614866
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del) rs750297982
NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu) rs753945250
NM_018136.5(ASPM):c.2055T>A (p.Ala685=) rs1658380406
NM_018136.5(ASPM):c.2135C>A (p.Thr712Asn) rs886045778
NM_018136.5(ASPM):c.2174-12G>A rs757488628
NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)
NM_018136.5(ASPM):c.2419+11T>C rs1658320215
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) rs769421796
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) rs755211990
NM_018136.5(ASPM):c.2724T>C (p.His908=) rs587783226
NM_018136.5(ASPM):c.2887T>G (p.Phe963Val) rs1658160160
NM_018136.5(ASPM):c.2916G>A (p.Leu972=) rs150590956
NM_018136.5(ASPM):c.301A>G (p.Lys101Glu) rs549294276
NM_018136.5(ASPM):c.3056G>T (p.Arg1019Leu) rs780791970
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018136.5(ASPM):c.3115A>G (p.Arg1039Gly) rs1259632140
NM_018136.5(ASPM):c.3144T>C (p.Leu1048=) rs1292454651
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=) rs868630671
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)
NM_018136.5(ASPM):c.3599-7A>C rs886045777
NM_018136.5(ASPM):c.3599-7A>G rs886045777
NM_018136.5(ASPM):c.3742-12G>C rs748824950
NM_018136.5(ASPM):c.3845T>C (p.Leu1282Pro) rs886045776
NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)
NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4214G>C (p.Arg1405Pro) rs143092798
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) rs1657362655
NM_018136.5(ASPM):c.441+5T>G
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4507G>A (p.Ala1503Thr) rs1657354520
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His) rs200681905
NM_018136.5(ASPM):c.4613G>A (p.Arg1538Gln) rs1657346244
NM_018136.5(ASPM):c.4726A>G (p.Arg1576Gly) rs886045775
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5292G>A (p.Met1764Ile) rs587783249
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) rs1553223646
NM_018136.5(ASPM):c.5424G>A (p.Leu1808=) rs1657297637
NM_018136.5(ASPM):c.5509G>T (p.Gly1837Cys) rs1657292215
NM_018136.5(ASPM):c.5582A>G (p.Tyr1861Cys) rs587783250
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.5606C>G (p.Thr1869Arg) rs886045772
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)
NM_018136.5(ASPM):c.562G>C (p.Val188Leu) rs587783251
NM_018136.5(ASPM):c.5693A>T (p.His1898Leu) rs1215586674
NM_018136.5(ASPM):c.5742G>T (p.Gln1914His) rs886045771
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
NM_018136.5(ASPM):c.6334C>T (p.His2112Tyr) rs587783257
NM_018136.5(ASPM):c.6351C>T (p.His2117=)
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) rs1267196794
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys) rs755151801
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro) rs548708212
NM_018136.5(ASPM):c.6736A>G (p.Ile2246Val) rs886045769
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7045A>C (p.Arg2349=) rs771273638
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn) rs376686304
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) rs560411441
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
NM_018136.5(ASPM):c.7757A>G (p.Lys2586Arg) rs886045767
NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg)
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)
NM_018136.5(ASPM):c.7853A>G (p.Lys2618Arg) rs886045766
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del) rs775391911
NM_018136.5(ASPM):c.7976G>A (p.Arg2659Lys) rs886045765
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.8117T>C (p.Val2706Ala) rs1657157578
NM_018136.5(ASPM):c.8291A>G (p.Glu2764Gly) rs587783279
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr) rs886045764
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
NM_018136.5(ASPM):c.8685A>C (p.Ala2895=) rs886045763
NM_018136.5(ASPM):c.8736T>C (p.Ser2912=) rs1657117675
NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)
NM_018136.5(ASPM):c.9144C>G (p.Val3048=) rs1656844574
NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)
NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.951T>G (p.Ser317Arg) rs1658660724
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) rs530083972
NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys) rs760292134
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His) rs145333987
NM_018136.5(ASPM):c.9662G>A (p.Arg3221Lys) rs587783293
NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)
NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)
NM_018136.5(ASPM):c.9939G>T (p.Met3313Ile) rs1427418520
NM_018161.5(NADSYN1):c.-690G>A
NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter)
NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val)
NM_018161.5(NADSYN1):c.799-2A>G
NM_018233.4(OGFOD1):c.1467+11_1467+13del
NM_018243.4(SEPTIN11):c.265dup (p.Glu89fs) rs2109948029
NM_018249.6(CDK5RAP2):c.*30T>A rs2031680606
NM_018249.6(CDK5RAP2):c.*311C>T rs2031650568
NM_018249.6(CDK5RAP2):c.*331A>T rs2031647370
NM_018249.6(CDK5RAP2):c.-111A>G rs886063401
NM_018249.6(CDK5RAP2):c.-156G>A rs2043192715
NM_018249.6(CDK5RAP2):c.-185C>G rs536243883
NM_018249.6(CDK5RAP2):c.-3G>C rs932975
NM_018249.6(CDK5RAP2):c.-58G>T rs567847377
NM_018249.6(CDK5RAP2):c.-93G>A rs2043189404
NM_018249.6(CDK5RAP2):c.1161C>G (p.Asn387Lys)
NM_018249.6(CDK5RAP2):c.1183C>T (p.His395Tyr) rs587783380
NM_018249.6(CDK5RAP2):c.1239G>T (p.Gln413His) rs886063400
NM_018249.6(CDK5RAP2):c.1294G>A (p.Gly432Arg) rs886063399
NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu) rs2131564281
NM_018249.6(CDK5RAP2):c.1657C>A (p.Leu553Met) rs886063398
NM_018249.6(CDK5RAP2):c.1709C>G (p.Ser570Cys) rs886063397
NM_018249.6(CDK5RAP2):c.1740G>A (p.Leu580=) rs2037726566
NM_018249.6(CDK5RAP2):c.195T>A (p.Asn65Lys) rs897322102
NM_018249.6(CDK5RAP2):c.2149G>A (p.Glu717Lys) rs886063396
NM_018249.6(CDK5RAP2):c.2288A>G (p.His763Arg) rs2036910484
NM_018249.6(CDK5RAP2):c.2544A>G (p.Glu848=) rs562215641
NM_018249.6(CDK5RAP2):c.267A>C (p.Gln89His) rs2042016578
NM_018249.6(CDK5RAP2):c.2788A>T (p.Asn930Tyr) rs1347787448
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg) rs143361777
NM_018249.6(CDK5RAP2):c.3055G>A (p.Asp1019Asn)
NM_018249.6(CDK5RAP2):c.3285G>C (p.Met1095Ile) rs587783385
NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)
NM_018249.6(CDK5RAP2):c.3722+14C>G rs748675436
NM_018249.6(CDK5RAP2):c.376A>C (p.Lys126Gln) rs1247866599
NM_018249.6(CDK5RAP2):c.377A>G (p.Lys126Arg)
NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys) rs758009123
NM_018249.6(CDK5RAP2):c.383C>T (p.Ser128Phe) rs758009123
NM_018249.6(CDK5RAP2):c.3965T>A (p.Val1322Asp)
NM_018249.6(CDK5RAP2):c.4005-10A>G rs886063395
NM_018249.6(CDK5RAP2):c.4055A>G (p.Glu1352Gly) rs587783388
NM_018249.6(CDK5RAP2):c.4123A>C (p.Lys1375Gln) rs2034458820
NM_018249.6(CDK5RAP2):c.4222C>T (p.Arg1408Cys) rs151259479
NM_018249.6(CDK5RAP2):c.4228G>A (p.Glu1410Lys) rs1588273804
NM_018249.6(CDK5RAP2):c.4269G>C (p.Leu1423Phe)
NM_018249.6(CDK5RAP2):c.430C>T (p.Arg144Trp) rs763240159
NM_018249.6(CDK5RAP2):c.4445A>T (p.Glu1482Val) rs587783391
NM_018249.6(CDK5RAP2):c.4476G>T (p.Glu1492Asp) rs2033694230
NM_018249.6(CDK5RAP2):c.4605-13G>T rs753263727
NM_018249.6(CDK5RAP2):c.5049G>A (p.Glu1683=) rs886063392
NM_018249.6(CDK5RAP2):c.5061C>G (p.Leu1687=) rs886063391
NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)
NM_018249.6(CDK5RAP2):c.5167A>G (p.Asn1723Asp) rs886063390
NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)
NM_018249.6(CDK5RAP2):c.5235G>C (p.Gln1745His) rs886063389
NM_018249.6(CDK5RAP2):c.5318C>T (p.Pro1773Leu) rs148857536
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro) rs587783394
NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln) rs587783395
NM_018249.6(CDK5RAP2):c.5448G>A (p.Glu1816=) rs587783396
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) rs13287734
NM_018249.6(CDK5RAP2):c.761T>C (p.Val254Ala) rs777129747
NM_018249.6(CDK5RAP2):c.881C>T (p.Ala294Val) rs757203397
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser) rs2090517565
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly) rs1846515941
NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)
NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter) rs2134268636
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) rs746710766
NM_018319.3(TDP1):c.-275C>G rs886050881
NM_018319.4(TDP1):c.*1099G>A rs1888617977
NM_018319.4(TDP1):c.*134A>C rs780471860
NM_018319.4(TDP1):c.*135T>C rs1566938109
NM_018319.4(TDP1):c.*1399T>A rs1888638490
NM_018319.4(TDP1):c.*1511C>G rs1596750474
NM_018319.4(TDP1):c.-242T>G rs533696578
NM_018319.4(TDP1):c.-243C>T rs886873955
NM_018319.4(TDP1):c.-264G>A rs1891509764
NM_018319.4(TDP1):c.-55C>G rs751280891
NM_018319.4(TDP1):c.-76T>C rs886050883
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe) rs892739281
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) rs772318046
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) rs906821798
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp) rs151271332
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018389.4(SLC35C1):c.-678A>G rs886048306
NM_018389.5(SLC35C1):c.*1426G>A rs886048321
NM_018389.5(SLC35C1):c.*1582C>T rs189120012
NM_018389.5(SLC35C1):c.*697G>A rs866682376
NM_018389.5(SLC35C1):c.-234T>G rs886048313
NM_018389.5(SLC35C1):c.-615G>C rs987392297
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)
NM_018389.5(SLC35C1):c.1021del (p.Arg341fs) rs2134598673
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=) rs886048315
NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)
NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr) rs2134598996
NM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu) rs1329095261
NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr) rs538320044
NM_018389.5(SLC35C1):c.120G>C (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.120G>T (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu) rs2085864641
NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val) rs1318213708
NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu) rs1315840820
NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe) rs554958653
NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)
NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu) rs200202916
NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)
NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro) rs2134590175
NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)
NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)
NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro) rs765620583
NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu) rs765620583
NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu) rs374967002
NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)
NM_018389.5(SLC35C1):c.344G>A (p.Arg115His)
NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met) rs747143721
NM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp) rs2085873008
NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_018389.5(SLC35C1):c.40A>G (p.Met14Val) rs775175277
NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)
NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu) rs2134590716
NM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro) rs778718913
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)
NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala) rs2085865383
NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)
NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)
NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)
NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val) rs2134597431
NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala) rs2134597499
NM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu) rs528291665
NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp) rs2134597563
NM_018389.5(SLC35C1):c.679A>G (p.Ile227Val) rs1565043377
NM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu) rs7130656
NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=) rs369955835
NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)
NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)
NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr) rs2085936907
NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val) rs1159038048
NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)
NM_018389.5(SLC35C1):c.804G>T (p.Gly268=) rs1327025697
NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu) rs1377122884
NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)
NM_018389.5(SLC35C1):c.85A>C (p.Asn29His) rs1304558236
NM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg) rs2085939659
NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr) rs2134598263
NM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu) rs2085940384
NM_018389.5(SLC35C1):c.903G>A (p.Thr301=) rs150743224
NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)
NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del) rs760348382
NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr) rs2134598497
NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys) rs2085942265
NM_018389.5(SLC35C1):c.983T>G (p.Met328Arg) rs764394629
NM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala) rs2085942864
NM_018429.3(BDP1):c.*1107T>C rs2112148040
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)
NM_018451.5(CENPJ):c.*267G>A rs886050096
NM_018451.5(CENPJ):c.*316G>A rs1953900248
NM_018451.5(CENPJ):c.*464A>G rs886050093
NM_018451.5(CENPJ):c.*593A>C rs1566274398
NM_018451.5(CENPJ):c.*743ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*783C>T rs886050092
NM_018451.5(CENPJ):c.*83_*85del rs747303248
NM_018451.5(CENPJ):c.-148C>T rs376883999
NM_018451.5(CENPJ):c.-24A>G rs780644943
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) rs371842504
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) rs886050100
NM_018451.5(CENPJ):c.2210A>G (p.Asp737Gly) rs587783408
NM_018451.5(CENPJ):c.221T>C (p.Leu74Pro) rs563391686
NM_018451.5(CENPJ):c.2344A>G (p.Arg782Gly) rs1409195287
NM_018451.5(CENPJ):c.2658A>G (p.Glu886=) rs1954501551
NM_018451.5(CENPJ):c.2826-6T>C rs886050099
NM_018451.5(CENPJ):c.2896G>A (p.Glu966Lys) rs752166766
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=) rs886050098
NM_018451.5(CENPJ):c.3004C>A (p.Gln1002Lys) rs1954196857
NM_018451.5(CENPJ):c.3081G>T (p.Gln1027His) rs1593540180
NM_018451.5(CENPJ):c.3566C>A (p.Thr1189Asn) rs778219526
NM_018451.5(CENPJ):c.3619-12G>T rs527997591
NM_018451.5(CENPJ):c.3653C>T (p.Thr1218Met) rs149855336
NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr) rs201774037
NM_018451.5(CENPJ):c.3769C>G (p.Pro1257Ala) rs201774037
NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln) rs761333511
NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro) rs886050102
NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala) rs770285570
NM_018451.5(CENPJ):c.777G>T (p.Ala259=) rs748696673
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) rs759022476
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.4(PRDM5):c.1538-5T>G rs1744464153
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
NM_018699.4(PRDM5):c.475+9T>A rs1561379470
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.4(PRDM5):c.650+7A>T rs751182540
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_018699.4(PRDM5):c.94-10T>G rs886059045
NM_018699.4(PRDM5):c.946-9C>T rs886059042
NM_018718.3(CEP41):c.*1191G>A rs781848072
NM_018718.3(CEP41):c.*1768G>T rs552499760
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C rs574519929
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2725C>T rs1796651983
NM_018718.3(CEP41):c.*287C>T rs1796743356
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3708A>T rs576298616
NM_018718.3(CEP41):c.*4343C>G rs1554413758
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4539C>T rs1796601439
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp) rs1554416156
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) rs184146463
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) rs184146463
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp) rs2117546322
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro) rs781878740
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup) rs1796754986
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser) rs782211413
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu) rs1797355895
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg) rs1797203213
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val) rs1797171250
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys) rs1797171055
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
NM_018718.3(CEP41):c.277G>C (p.Asp93His) rs1797169504
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys) rs2117574982
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr) rs149373377
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn) rs150251054
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
NM_018718.3(CEP41):c.320C>T (p.Ala107Val) rs141025803
NM_018718.3(CEP41):c.33+6G>A rs1798137622
NM_018718.3(CEP41):c.33G>A (p.Glu11=) rs2117739865
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg) rs782235279
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr) rs782508627
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln) rs782614895
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+5T>C
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn) rs782614635
NM_018718.3(CEP41):c.42G>T (p.Met14Ile) rs1797714880
NM_018718.3(CEP41):c.437T>C (p.Val146Ala) rs1170058733
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile) rs2117565108
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser) rs1796890244
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu) rs782587361
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser) rs201818904
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala) rs1796855782
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe) rs1796853863
NM_018718.3(CEP41):c.642+5C>T rs2117560304
NM_018718.3(CEP41):c.642T>C (p.Tyr214=) rs1796853773
NM_018718.3(CEP41):c.643-9del
NM_018718.3(CEP41):c.653A>G (p.His218Arg) rs527896814
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg) rs1472855500
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly) rs1796819026
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr) rs2117555473
NM_018718.3(CEP41):c.717G>T (p.Met239Ile) rs2117555395
NM_018718.3(CEP41):c.757+5G>A rs909436822
NM_018718.3(CEP41):c.769T>G (p.Leu257Val) rs2117552967
NM_018718.3(CEP41):c.773C>T (p.Ala258Val) rs1050700461
NM_018718.3(CEP41):c.798T>G (p.Ile266Met) rs2117552869
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile) rs2117552856
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser) rs2117552201
NM_018718.3(CEP41):c.928A>G (p.Ile310Val) rs1308536722
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro) rs2117551648
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
NM_018718.3(CEP41):c.973+404_1077del rs1796755672
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln) rs782387467
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) rs782387467
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro) rs1796760925
NM_018965.4(TREM2):c.203A>T (p.Asn68Ile)
NM_018965.4(TREM2):c.254C>T (p.Thr85Ile) rs368255898
NM_018965.4(TREM2):c.292C>T (p.Arg98Trp) rs147564421
NM_018965.4(TREM2):c.346A>T (p.Ser116Cys) rs2113879950
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_018972.4(GDAP1):c.*1043G>C rs762978513
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1165C>G rs1809586700
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2298A>C rs4551344
NM_018972.4(GDAP1):c.*451C>T rs1809544520
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)
NM_018972.4(GDAP1):c.1014G>C (p.Met338Ile) rs759748392
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.1042A>G (p.Ile348Val) rs775559344
NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)
NM_018972.4(GDAP1):c.1063C>A (p.Pro355Thr) rs1219244427
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser) rs1219244427
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)
NM_018972.4(GDAP1):c.108C>A (p.Ser36Arg)
NM_018972.4(GDAP1):c.113A>G (p.Gln38Arg)
NM_018972.4(GDAP1):c.117+3A>G
NM_018972.4(GDAP1):c.118-3C>G rs750762719
NM_018972.4(GDAP1):c.118-8T>G
NM_018972.4(GDAP1):c.11G>A (p.Arg4Lys)
NM_018972.4(GDAP1):c.166G>A (p.Val56Ile) rs1808860135
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg) rs774799079
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) rs1586795201
NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) rs770714080
NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) rs1586795332
NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)
NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg) rs879253884
NM_018972.4(GDAP1):c.244C>A (p.His82Asn)
NM_018972.4(GDAP1):c.245A>G (p.His82Arg)
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) rs1586795373
NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)
NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)
NM_018972.4(GDAP1):c.259A>G (p.Ile87Val) rs2131496333
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) rs1586795452
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) rs1808871593
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr) rs1808871960
NM_018972.4(GDAP1):c.310+4A>G rs1808873168
NM_018972.4(GDAP1):c.310+5T>C
NM_018972.4(GDAP1):c.311-6T>G
NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)
NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) rs281865060
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys) rs1809288442
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) rs1174933176
NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) rs1440200660
NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)
NM_018972.4(GDAP1):c.404C>G (p.Ala135Gly)
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) rs1586803273
NM_018972.4(GDAP1):c.439del (p.Thr147fs) rs1586803279
NM_018972.4(GDAP1):c.445G>C (p.Asp149His) rs1443963090
NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)
NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly) rs1586803296
NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)
NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)
NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly) rs1809303639
NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.484+3A>G
NM_018972.4(GDAP1):c.484+6T>C rs2131513088
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)
NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)
NM_018972.4(GDAP1):c.506_507delinsTG (p.Ser169Leu) rs1809384050
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr) rs1809389310
NM_018972.4(GDAP1):c.55A>G (p.Lys19Glu)
NM_018972.4(GDAP1):c.568A>G (p.Lys190Glu) rs1809389662
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.586C>G (p.Leu196Val) rs1057524488
NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)
NM_018972.4(GDAP1):c.618G>T (p.Lys206Asn) rs780629692
NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn) rs1367421978
NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) rs121908113
NM_018972.4(GDAP1):c.653A>C (p.Gln218Pro) rs556827873
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) rs1586806206
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala) rs1586806206
NM_018972.4(GDAP1):c.65C>G (p.Ala22Gly)
NM_018972.4(GDAP1):c.65C>T (p.Ala22Val)
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) rs1586806229
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)
NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)
NM_018972.4(GDAP1):c.694+3A>G
NM_018972.4(GDAP1):c.695-1G>A rs1809496317
NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.716T>A (p.Leu239His)
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) rs121908115
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe) rs1809501318
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.77T>C (p.Leu26Pro)
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly)
NM_018972.4(GDAP1):c.805G>A (p.Gly269Arg) rs2131521657
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.827T>G (p.Leu276Trp)
NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)
NM_018972.4(GDAP1):c.85T>G (p.Tyr29Asp)
NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) rs1809508613
NM_018972.4(GDAP1):c.874G>C (p.Val292Leu) rs767553697
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg) rs976792279
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) rs1586807449
NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)
NM_018972.4(GDAP1):c.89A>T (p.His30Leu) rs896431562
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) rs1586807478
NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr) rs368055667
NM_018972.4(GDAP1):c.908C>T (p.Ala303Val) rs1440025936
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu) rs1809513515
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.931G>A (p.Val311Met) rs1586807556
NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu) rs1809514361
NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)
NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) rs1176626666
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018972.4(GDAP1):c.97C>T (p.His33Tyr)
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) rs200347646
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) rs1463766241
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala)
NM_020066.5(FMN2):c.2842_2873del (p.Leu948fs)
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) rs202165125
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu)
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val)
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*401A>G rs1660167809
NM_020247.5(COQ8A):c.*497C>T rs1660172039
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*759T>C rs1017095829
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys) rs536852535
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His) rs2148132744
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) rs1278938202
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser) rs886046068
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly) rs1659738579
NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser) rs748688183
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) rs759640480
NM_020347.4(LZTFL1):c.778-3C>T
NM_020366.4(RPGRIP1):c.2669G>C (p.Arg890Pro)
NM_020366.4(RPGRIP1):c.337C>G (p.Leu113Val)
NM_020366.4(RPGRIP1):c.3748+17dup rs578107768
NM_020374.4(FERRY3):c.766T>C (p.Ser256Pro)
NM_020458.4(TTC7A):c.1001+5G>C rs1359277811
NM_020458.4(TTC7A):c.1021A>C (p.Asn341His) rs1343390351
NM_020458.4(TTC7A):c.1024A>T (p.Ile342Phe) rs149020036
NM_020458.4(TTC7A):c.1026C>G (p.Ile342Met) rs151317740
NM_020458.4(TTC7A):c.1027G>A (p.Glu343Lys) rs746446061
NM_020458.4(TTC7A):c.1036C>T (p.Leu346Phe) rs750241083
NM_020458.4(TTC7A):c.1057G>A (p.Glu353Lys)
NM_020458.4(TTC7A):c.1073G>T (p.Arg358Leu) rs752771480
NM_020458.4(TTC7A):c.1090C>A (p.Arg364=)
NM_020458.4(TTC7A):c.1125C>A (p.Ser375Arg) rs144037049
NM_020458.4(TTC7A):c.1132A>T (p.Asn378Tyr) rs1677332012
NM_020458.4(TTC7A):c.113C>G (p.Thr38Arg) rs1179064463
NM_020458.4(TTC7A):c.113C>T (p.Thr38Met) rs1179064463
NM_020458.4(TTC7A):c.1144A>T (p.Ile382Phe) rs757541124
NM_020458.4(TTC7A):c.1151A>T (p.Asp384Val)
NM_020458.4(TTC7A):c.1194G>T (p.Met398Ile) rs1677341409
NM_020458.4(TTC7A):c.1196T>C (p.Leu399Pro) rs2104453742
NM_020458.4(TTC7A):c.1203+16_1203+30delinsACGTACTG rs2104453963
NM_020458.4(TTC7A):c.1203+5G>A
NM_020458.4(TTC7A):c.1211A>C (p.Glu404Ala)
NM_020458.4(TTC7A):c.1228G>A (p.Ala410Thr) rs1677434974
NM_020458.4(TTC7A):c.1229C>T (p.Ala410Val)
NM_020458.4(TTC7A):c.1258G>T (p.Val420Leu)
NM_020458.4(TTC7A):c.1288-3C>T rs2104485027
NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn) rs1274237789
NM_020458.4(TTC7A):c.1317G>C (p.Glu439Asp) rs991295194
NM_020458.4(TTC7A):c.1331G>C (p.Arg444Pro) rs764574982
NM_020458.4(TTC7A):c.1333_1334delinsGT (p.Pro445Val) rs2104485354
NM_020458.4(TTC7A):c.1345A>G (p.Thr449Ala)
NM_020458.4(TTC7A):c.1358T>C (p.Met453Thr) rs1558574754
NM_020458.4(TTC7A):c.1363G>T (p.Ala455Ser) rs147112070
NM_020458.4(TTC7A):c.136G>C (p.Gly46Arg)
NM_020458.4(TTC7A):c.1373G>A (p.Cys458Tyr) rs995063781
NM_020458.4(TTC7A):c.1381T>C (p.Ser461Pro)
NM_020458.4(TTC7A):c.1397A>G (p.Glu466Gly) rs1249228239
NM_020458.4(TTC7A):c.1414G>C (p.Ala472Pro) rs2104548111
NM_020458.4(TTC7A):c.141C>A (p.Asn47Lys) rs1454748257
NM_020458.4(TTC7A):c.1462A>G (p.Lys488Glu)
NM_020458.4(TTC7A):c.1493G>C (p.Ser498Thr)
NM_020458.4(TTC7A):c.1509C>G (p.Asp503Glu)
NM_020458.4(TTC7A):c.153C>G (p.Ser51Arg)
NM_020458.4(TTC7A):c.1546A>G (p.Lys516Glu) rs1679514263
NM_020458.4(TTC7A):c.1549G>A (p.Ala517Thr) rs982437690
NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr) rs906523542
NM_020458.4(TTC7A):c.154C>G (p.Pro52Ala) rs906523542
NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)
NM_020458.4(TTC7A):c.1553T>C (p.Leu518Pro) rs1679515226
NM_020458.4(TTC7A):c.1571C>A (p.Ala524Asp)
NM_020458.4(TTC7A):c.1571C>T (p.Ala524Val)
NM_020458.4(TTC7A):c.1574A>G (p.Gln525Arg)
NM_020458.4(TTC7A):c.1588A>G (p.Ser530Gly) rs1679634498
NM_020458.4(TTC7A):c.1598A>C (p.Gln533Pro) rs1572943765
NM_020458.4(TTC7A):c.1610A>G (p.Tyr537Cys)
NM_020458.4(TTC7A):c.1637G>A (p.Arg546Gln) rs180673878
NM_020458.4(TTC7A):c.1641+3G>A rs370452371
NM_020458.4(TTC7A):c.1654A>T (p.Met552Leu)
NM_020458.4(TTC7A):c.1676T>C (p.Leu559Pro)
NM_020458.4(TTC7A):c.1690G>A (p.Asp564Asn)
NM_020458.4(TTC7A):c.169A>G (p.Thr57Ala) rs1572671568
NM_020458.4(TTC7A):c.1702G>A (p.Ala568Thr) rs774511591
NM_020458.4(TTC7A):c.1750C>A (p.His584Asn)
NM_020458.4(TTC7A):c.1769A>G (p.Asn590Ser) rs1292169635
NM_020458.4(TTC7A):c.1773G>A (p.Met591Ile)
NM_020458.4(TTC7A):c.1781C>T (p.Thr594Ile)
NM_020458.4(TTC7A):c.1786C>T (p.His596Tyr)
NM_020458.4(TTC7A):c.1794G>C (p.Glu598Asp)
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
NM_020458.4(TTC7A):c.1807A>G (p.Met603Val) rs1573016401
NM_020458.4(TTC7A):c.1808T>C (p.Met603Thr) rs571512966
NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)
NM_020458.4(TTC7A):c.1819G>A (p.Val607Met) rs1573016481
NM_020458.4(TTC7A):c.1859T>C (p.Leu620Pro) rs1682318934
NM_020458.4(TTC7A):c.1861G>A (p.Val621Met)
NM_020458.4(TTC7A):c.1861G>C (p.Val621Leu) rs201141407
NM_020458.4(TTC7A):c.1919+4A>G rs751964737
NM_020458.4(TTC7A):c.1919+5G>A rs1682329057
NM_020458.4(TTC7A):c.191T>A (p.Phe64Tyr)
NM_020458.4(TTC7A):c.1922G>A (p.Gly641Asp) rs1682706568
NM_020458.4(TTC7A):c.1988C>T (p.Thr663Ile) rs1682713994
NM_020458.4(TTC7A):c.2018-3C>T rs539326095
NM_020458.4(TTC7A):c.2024G>T (p.Arg675Leu) rs532590528
NM_020458.4(TTC7A):c.2027G>A (p.Arg676Gln)
NM_020458.4(TTC7A):c.2029G>T (p.Ala677Ser)
NM_020458.4(TTC7A):c.2038A>G (p.Ile680Val) rs1332051582
NM_020458.4(TTC7A):c.2057A>T (p.Glu686Val)
NM_020458.4(TTC7A):c.2066T>C (p.Met689Thr)
NM_020458.4(TTC7A):c.2087C>G (p.Ser696Cys) rs758407638
NM_020458.4(TTC7A):c.2103G>C (p.Gln701His) rs2104732951
NM_020458.4(TTC7A):c.2143C>A (p.Leu715Met) rs1361238141
NM_020458.4(TTC7A):c.2158C>G (p.Leu720Val) rs1683706187
NM_020458.4(TTC7A):c.2163C>G (p.Phe721Leu) rs1011519119
NM_020458.4(TTC7A):c.2189C>G (p.Ala730Gly) rs779553048
NM_020458.4(TTC7A):c.2192G>A (p.Gly731Asp)
NM_020458.4(TTC7A):c.2197T>C (p.Cys733Arg)
NM_020458.4(TTC7A):c.2205G>C (p.Gln735His)
NM_020458.4(TTC7A):c.2213C>T (p.Ala738Val)
NM_020458.4(TTC7A):c.2222T>C (p.Phe741Ser)
NM_020458.4(TTC7A):c.2231C>A (p.Ser744Tyr) rs759803354
NM_020458.4(TTC7A):c.2233C>G (p.His745Asp) rs765413715
NM_020458.4(TTC7A):c.2237C>T (p.Ser746Leu)
NM_020458.4(TTC7A):c.2246A>C (p.Tyr749Ser) rs200237098
NM_020458.4(TTC7A):c.2248A>G (p.Met750Val) rs1261534519
NM_020458.4(TTC7A):c.2250G>T (p.Met750Ile)
NM_020458.4(TTC7A):c.2252G>A (p.Arg751Gln)
NM_020458.4(TTC7A):c.2270T>C (p.Val757Ala) rs1573067677
NM_020458.4(TTC7A):c.2275G>A (p.Gly759Ser) rs1422354897
NM_020458.4(TTC7A):c.2282T>C (p.Leu761Pro) rs1683726116
NM_020458.4(TTC7A):c.2306A>G (p.Lys769Arg) rs775700661
NM_020458.4(TTC7A):c.2325C>G (p.Asn775Lys)
NM_020458.4(TTC7A):c.2385G>C (p.Lys795Asn)
NM_020458.4(TTC7A):c.2407_2408delinsTA (p.Arg803Tyr) rs2103674873
NM_020458.4(TTC7A):c.2408G>T (p.Arg803Leu) rs146165942
NM_020458.4(TTC7A):c.2423G>T (p.Arg808Met)
NM_020458.4(TTC7A):c.2462A>C (p.Glu821Ala) rs1338592596
NM_020458.4(TTC7A):c.2471A>G (p.Gln824Arg) rs2103676030
NM_020458.4(TTC7A):c.2480G>A (p.Gly827Asp)
NM_020458.4(TTC7A):c.2482C>T (p.Gln828Ter) rs1684987064
NM_020458.4(TTC7A):c.248C>G (p.Ala83Gly) rs145327046
NM_020458.4(TTC7A):c.2497G>A (p.Val833Ile)
NM_020458.4(TTC7A):c.2500G>A (p.Asp834Asn) rs1458273923
NM_020458.4(TTC7A):c.2519T>C (p.Leu840Pro) rs2103676767
NM_020458.4(TTC7A):c.2525T>C (p.Leu842Pro) rs2103676868
NM_020458.4(TTC7A):c.2527G>C (p.Glu843Gln)
NM_020458.4(TTC7A):c.2533A>G (p.Ser845Gly)
NM_020458.4(TTC7A):c.2564C>T (p.Pro855Leu)
NM_020458.4(TTC7A):c.2571G>C (p.Glu857Asp)
NM_020458.4(TTC7A):c.295A>G (p.Met99Val) rs748068913
NM_020458.4(TTC7A):c.29A>T (p.Tyr10Phe) rs1041638738
NM_020458.4(TTC7A):c.300_302delinsTTC (p.Glu101Ser)
NM_020458.4(TTC7A):c.335A>G (p.His112Arg) rs1671312601
NM_020458.4(TTC7A):c.338G>A (p.Gly113Glu) rs1671313057
NM_020458.4(TTC7A):c.35A>G (p.Lys12Arg)
NM_020458.4(TTC7A):c.374T>C (p.Leu125Pro) rs367845612
NM_020458.4(TTC7A):c.380T>C (p.Leu127Pro) rs1671902012
NM_020458.4(TTC7A):c.397G>C (p.Val133Leu) rs749546800
NM_020458.4(TTC7A):c.407C>T (p.Ser136Leu) rs748480706
NM_020458.4(TTC7A):c.409T>C (p.Tyr137His) rs1572717746
NM_020458.4(TTC7A):c.413G>A (p.Arg138Gln) rs541501653
NM_020458.4(TTC7A):c.413G>C (p.Arg138Pro)
NM_020458.4(TTC7A):c.416A>G (p.Asp139Gly)
NM_020458.4(TTC7A):c.433G>T (p.Ala145Ser) rs201163893
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020458.4(TTC7A):c.445A>G (p.Ile149Val) rs1671912445
NM_020458.4(TTC7A):c.446T>C (p.Ile149Thr)
NM_020458.4(TTC7A):c.460A>T (p.Met154Leu)
NM_020458.4(TTC7A):c.468C>A (p.Asn156Lys) rs1274728618
NM_020458.4(TTC7A):c.475C>A (p.Leu159Met)
NM_020458.4(TTC7A):c.488G>T (p.Arg163Leu)
NM_020458.4(TTC7A):c.493C>G (p.Leu165Val)
NM_020458.4(TTC7A):c.500_502del (p.Glu167del) rs1671924469
NM_020458.4(TTC7A):c.501G>C (p.Glu167Asp)
NM_020458.4(TTC7A):c.503C>G (p.Ala168Gly)
NM_020458.4(TTC7A):c.530A>G (p.Glu177Gly) rs1673729373
NM_020458.4(TTC7A):c.532C>T (p.Arg178Cys)
NM_020458.4(TTC7A):c.533G>T (p.Arg178Leu)
NM_020458.4(TTC7A):c.535C>G (p.Leu179Val)
NM_020458.4(TTC7A):c.550G>A (p.Ala184Thr)
NM_020458.4(TTC7A):c.551C>T (p.Ala184Val)
NM_020458.4(TTC7A):c.578A>T (p.Glu193Val) rs1673735795
NM_020458.4(TTC7A):c.584A>G (p.Glu195Gly)
NM_020458.4(TTC7A):c.591C>G (p.Ile197Met) rs1673737073
NM_020458.4(TTC7A):c.592A>C (p.Thr198Pro) rs139708012
NM_020458.4(TTC7A):c.607G>T (p.Ala203Ser) rs767203972
NM_020458.4(TTC7A):c.61C>T (p.Arg21Cys) rs1315722693
NM_020458.4(TTC7A):c.635A>G (p.Gln212Arg)
NM_020458.4(TTC7A):c.648+3G>A
NM_020458.4(TTC7A):c.650C>G (p.Thr217Ser) rs372046395
NM_020458.4(TTC7A):c.673C>T (p.His225Tyr) rs751644700
NM_020458.4(TTC7A):c.674A>T (p.His225Leu)
NM_020458.4(TTC7A):c.688C>G (p.His230Asp) rs757337807
NM_020458.4(TTC7A):c.690C>A (p.His230Gln) rs971396412
NM_020458.4(TTC7A):c.691C>T (p.Pro231Ser) rs1006086423
NM_020458.4(TTC7A):c.707T>C (p.Leu236Pro) rs1572793765
NM_020458.4(TTC7A):c.719T>C (p.Leu240Pro) rs1392469315
NM_020458.4(TTC7A):c.739G>C (p.Ala247Pro) rs752603355
NM_020458.4(TTC7A):c.743A>G (p.Tyr248Cys)
NM_020458.4(TTC7A):c.743A>T (p.Tyr248Phe) rs147976856
NM_020458.4(TTC7A):c.745G>A (p.Val249Met)
NM_020458.4(TTC7A):c.761A>T (p.Lys254Met) rs1558531892
NM_020458.4(TTC7A):c.769A>G (p.Ile257Val)
NM_020458.4(TTC7A):c.777G>C (p.Lys259Asn) rs376977004
NM_020458.4(TTC7A):c.779G>A (p.Gly260Asp) rs759008720
NM_020458.4(TTC7A):c.799G>T (p.Val267Leu)
NM_020458.4(TTC7A):c.800T>A (p.Val267Glu)
NM_020458.4(TTC7A):c.829C>G (p.Gln277Glu) rs587777547
NM_020458.4(TTC7A):c.839A>G (p.Lys280Arg) rs1675838342
NM_020458.4(TTC7A):c.843+5T>C rs1270977220
NM_020458.4(TTC7A):c.843G>A (p.Val281=) rs1675839027
NM_020458.4(TTC7A):c.866G>A (p.Gly289Glu)
NM_020458.4(TTC7A):c.878A>C (p.His293Pro) rs150578101
NM_020458.4(TTC7A):c.878A>G (p.His293Arg) rs150578101
NM_020458.4(TTC7A):c.887G>A (p.Ser296Asn) rs771659534
NM_020458.4(TTC7A):c.888T>A (p.Ser296Arg)
NM_020458.4(TTC7A):c.899A>C (p.Tyr300Ser) rs146719089
NM_020458.4(TTC7A):c.899A>G (p.Tyr300Cys) rs146719089
NM_020458.4(TTC7A):c.905G>A (p.Ser302Asn)
NM_020458.4(TTC7A):c.935T>C (p.Met312Thr) rs552879320
NM_020458.4(TTC7A):c.948G>T (p.Glu316Asp) rs1432944956
NM_020458.4(TTC7A):c.968C>T (p.Ala323Val) rs1675955884
NM_020458.4(TTC7A):c.979C>A (p.Pro327Thr)
NM_020458.4(TTC7A):c.980C>T (p.Pro327Leu)
NM_020458.4(TTC7A):c.992_994del (p.Glu331del) rs2104387737
NM_020631.5(PLEKHG5):c.*555T>A rs886046494
NM_020631.5(PLEKHG5):c.*573G>A rs1644399627
NM_020631.6(PLEKHG5):c.*363C>G rs186882493
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg) rs2148587188
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His) rs1569865241
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys)
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro) rs372001535
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del)
NM_020631.6(PLEKHG5):c.1080+5G>T rs1644623669
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys) rs2148585629
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala) rs1569861657
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu) rs1644599017
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe) rs1244644253
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu43_Ser44insGluGlu) rs760139855
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu) rs760139855
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
NM_020631.6(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu) rs1020039192
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met) rs1644590923
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser) rs1644590851
NM_020631.6(PLEKHG5):c.1163C>G (p.Pro388Arg) rs746094917
NM_020631.6(PLEKHG5):c.1166A>T (p.Glu389Val)
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His) rs568915094
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu) rs768648425
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala) rs1209779631
NM_020631.6(PLEKHG5):c.1282-7G>A rs780551776
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys) rs1569857188
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu) rs2148583756
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe)
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys) rs2148583545
NM_020631.6(PLEKHG5):c.1392+8C>T rs771832632
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr) rs2148583006
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met) rs1644551354
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn) rs1243221708
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn) rs2148582918
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg) rs2148582901
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met) rs534760199
NM_020631.6(PLEKHG5):c.1470G>T (p.Lys490Asn) rs2148582809
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) rs1644549269
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.6(PLEKHG5):c.1519G>A (p.Ala507Thr) rs868002197
NM_020631.6(PLEKHG5):c.1519G>C (p.Ala507Pro) rs868002197
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val) rs1464559999
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala)
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser) rs1214327374
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly) rs777277703
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu) rs1464358180
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr) rs761251191
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp) rs1480269028
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp)
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys) rs1046202834
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro) rs759670081
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly) rs766560337
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
NM_020631.6(PLEKHG5):c.1801A>G (p.Met601Val) rs1156760922
NM_020631.6(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=)
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr) rs759538158
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro) rs1644500916
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr) rs1644500686
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu) rs1460646554
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly)
NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu) rs1046289350
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg)
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys) rs149089640
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly)
NM_020631.6(PLEKHG5):c.2132A>G (p.Gln711Arg) rs886046500
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala) rs1241363420
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu) rs1553173393
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp) rs761945225
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu) rs1553173388
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys) rs1020150780
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp) rs62639695
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu) rs960528373
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile) rs770641755
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val) rs1644484109
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala) rs1245961862
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn)
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His) rs1569839599
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val) rs1569836518
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr) rs1644465940
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys) rs768087057
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu) rs2148576538
NM_020631.6(PLEKHG5):c.2410C>T (p.Pro804Ser) rs886046499
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys) rs76625876
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala) rs779264802
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly) rs1287801386
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr) rs1180411078
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser) rs1390984037
NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu) rs886046498
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
NM_020631.6(PLEKHG5):c.265A>G (p.Thr89Ala) rs981552118
NM_020631.6(PLEKHG5):c.2664G>T (p.Gly888=) rs1569832075
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile) rs2148575479
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly) rs1247695536
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys) rs1644446616
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu) rs910647086
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu) rs376237905
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg) rs1644443857
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser) rs114619322
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del) rs781153386
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg) rs1320979244
NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp) rs780100460
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu) rs2148574527
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe) rs1337483830
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg) rs777368688
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu) rs777368688
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys) rs750720112
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro) rs2148574076
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
NM_020631.6(PLEKHG5):c.3011+6T>C rs1569827097
NM_020631.6(PLEKHG5):c.3012-17_3012-6del rs774593947
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
NM_020631.6(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu) rs141032388
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser) rs140687324
NM_020631.6(PLEKHG5):c.352G>A (p.Val118Met)
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn) rs759645488
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala) rs2148591381
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.6(PLEKHG5):c.407A>G (p.Tyr136Cys) rs986133840
NM_020631.6(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.6(PLEKHG5):c.415G>A (p.Gly139Arg) rs769529781
NM_020631.6(PLEKHG5):c.415G>C (p.Gly139Arg) rs769529781
NM_020631.6(PLEKHG5):c.431G>A (p.Arg144His) rs150152888
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu) rs150152888
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp)
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu)
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg)
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn) rs150772386
NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr) rs2148598223
NM_020631.6(PLEKHG5):c.503G>C (p.Ser168Thr) rs1346810555
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln) rs59117380
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly) rs372602993
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp) rs372602993
NM_020631.6(PLEKHG5):c.521C>T (p.Pro174Leu) rs1374927816
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser) rs1644682762
NM_020631.6(PLEKHG5):c.541G>C (p.Ala181Pro) rs527341275
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr) rs199503669
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr)
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys)
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly) rs1321100552
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del) rs1380854015
NM_020631.6(PLEKHG5):c.569G>A (p.Arg190His) rs770010475
NM_020631.6(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val) rs1159602956
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln) rs1259066437
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys) rs561283132
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg)
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His)
NM_020631.6(PLEKHG5):c.615C>G (p.Asn205Lys) rs2148589091
NM_020631.6(PLEKHG5):c.618G>T (p.Met206Ile) rs1644658818
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro) rs772232182
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val)
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys) rs1436222408
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu)
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln) rs1201574261
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro) rs1201574261
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr) rs550362834
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln) rs1280977628
NM_020631.6(PLEKHG5):c.806A>T (p.Lys269Met) rs886046501
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr) rs1569889912
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln) rs1644646685
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His) rs2148588292
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn) rs1644643276
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe)
NM_020631.6(PLEKHG5):c.89G>A (p.Arg30His) rs199745947
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del) rs1465693103
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del) rs2148588099
NM_020631.6(PLEKHG5):c.919G>C (p.Glu307Gln) rs148745591
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala) rs1644755304
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser)
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp)
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr)
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp) rs767511293
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile) rs1275790736
NM_020631.6(PLEKHG5):c.984+3G>A rs1282919159
NM_020631.6(PLEKHG5):c.985-6C>G rs1371350296
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020632.3(ATP6V0A4):c.*24T>A rs746571093
NM_020632.3(ATP6V0A4):c.-120-12C>G rs891150779
NM_020632.3(ATP6V0A4):c.1098T>C (p.Phe366=) rs886062013
NM_020632.3(ATP6V0A4):c.1238G>A (p.Gly413Asp)
NM_020632.3(ATP6V0A4):c.1333TTC[1] (p.Phe446del)
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
NM_020632.3(ATP6V0A4):c.1613C>T (p.Ser538Leu)
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs) rs1562989815
NM_020632.3(ATP6V0A4):c.1733C>T (p.Pro578Leu) rs1805106046
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020632.3(ATP6V0A4):c.1908+12A>T rs1554393405
NM_020632.3(ATP6V0A4):c.196+4A>G
NM_020632.3(ATP6V0A4):c.1997A>G (p.His666Arg)
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu) rs142313541
NM_020632.3(ATP6V0A4):c.2430-19G>A
NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=) rs137955459
NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) rs538080700
NM_020661.4(AICDA):c.*1083T>C rs886049870
NM_020661.4(AICDA):c.*1106A>G rs886049869
NM_020661.4(AICDA):c.*1138A>G rs7138990
NM_020661.4(AICDA):c.*1226A>C rs887527114
NM_020661.4(AICDA):c.*1262C>T rs886049868
NM_020661.4(AICDA):c.*1313G>C rs1941208167
NM_020661.4(AICDA):c.*1380A>G rs1286233476
NM_020661.4(AICDA):c.*1453A>G rs1188858698
NM_020661.4(AICDA):c.*1455G>A rs187473552
NM_020661.4(AICDA):c.*1802T>C rs1941199404
NM_020661.4(AICDA):c.*288C>T rs886049875
NM_020661.4(AICDA):c.*38T>G rs115089086
NM_020661.4(AICDA):c.*556T>G rs3205190
NM_020661.4(AICDA):c.*804A>T rs886049872
NM_020661.4(AICDA):c.*837A>G rs886049871
NM_020661.4(AICDA):c.110_115del (p.Asp37_Ser38del) rs1181609421
NM_020661.4(AICDA):c.127T>A (p.Ser43Thr) rs1941294885
NM_020661.4(AICDA):c.128C>T (p.Ser43Leu)
NM_020661.4(AICDA):c.133G>A (p.Asp45Asn)
NM_020661.4(AICDA):c.160G>C (p.Gly54Arg) rs1565509771
NM_020661.4(AICDA):c.178C>T (p.Leu60Phe)
NM_020661.4(AICDA):c.181T>C (p.Phe61Leu)
NM_020661.4(AICDA):c.197C>T (p.Ser66Leu) rs1941270570
NM_020661.4(AICDA):c.201C>A (p.Asp67Glu)
NM_020661.4(AICDA):c.208C>G (p.Leu70Val) rs929345572
NM_020661.4(AICDA):c.220C>T (p.Arg74Cys)
NM_020661.4(AICDA):c.230G>A (p.Arg77His) rs1941269563
NM_020661.4(AICDA):c.232G>C (p.Val78Leu)
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) rs104894320
NM_020661.4(AICDA):c.257C>T (p.Pro86Leu) rs2136431944
NM_020661.4(AICDA):c.259T>G (p.Cys87Gly)
NM_020661.4(AICDA):c.271G>A (p.Ala91Thr)
NM_020661.4(AICDA):c.278A>G (p.His93Arg) rs1941268089
NM_020661.4(AICDA):c.281T>C (p.Val94Ala) rs2136431874
NM_020661.4(AICDA):c.283G>A (p.Ala95Thr)
NM_020661.4(AICDA):c.283_284delinsTT (p.Ala95Phe) rs2136431862
NM_020661.4(AICDA):c.284C>G (p.Ala95Gly)
NM_020661.4(AICDA):c.289T>C (p.Phe97Leu)
NM_020661.4(AICDA):c.289T>G (p.Phe97Val) rs1591744388
NM_020661.4(AICDA):c.305C>T (p.Pro102Leu) rs1565509610
NM_020661.4(AICDA):c.329C>T (p.Thr110Ile)
NM_020661.4(AICDA):c.338T>C (p.Leu113Pro) rs1268237441
NM_020661.4(AICDA):c.352G>A (p.Asp118Asn)
NM_020661.4(AICDA):c.353A>C (p.Asp118Ala) rs1941266008
NM_020661.4(AICDA):c.356G>A (p.Arg119His)
NM_020661.4(AICDA):c.368C>T (p.Pro123Leu) rs1941265632
NM_020661.4(AICDA):c.370G>A (p.Glu124Lys)
NM_020661.4(AICDA):c.379C>T (p.Arg127Trp)
NM_020661.4(AICDA):c.391C>T (p.Arg131Cys) rs761363877
NM_020661.4(AICDA):c.398G>T (p.Gly133Val)
NM_020661.4(AICDA):c.400G>A (p.Val134Met)
NM_020661.4(AICDA):c.406A>G (p.Ile136Val)
NM_020661.4(AICDA):c.407T>C (p.Ile136Thr)
NM_020661.4(AICDA):c.422T>A (p.Phe141Tyr)
NM_020661.4(AICDA):c.427+6A>C rs1318694006
NM_020661.4(AICDA):c.427G>T (p.Asp143Tyr) rs1185119035
NM_020661.4(AICDA):c.428A>T (p.Asp143Val) rs1185838920
NM_020661.4(AICDA):c.43T>C (p.Phe15Leu) rs2136433362
NM_020661.4(AICDA):c.464_465inv (p.His155Arg)
NM_020661.4(AICDA):c.465C>A (p.His155Gln)
NM_020661.4(AICDA):c.470G>T (p.Arg157Ile)
NM_020661.4(AICDA):c.496C>T (p.His166Tyr)
NM_020661.4(AICDA):c.511C>G (p.Arg171Gly)
NM_020661.4(AICDA):c.511C>T (p.Arg171Cys)
NM_020661.4(AICDA):c.517T>G (p.Ser173Ala)
NM_020661.4(AICDA):c.544-3C>T rs1941237276
NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter) rs1591743505
NM_020661.4(AICDA):c.554A>C (p.Glu185Ala) rs1941236723
NM_020661.4(AICDA):c.557T>C (p.Val186Ala) rs1227243694
NM_020661.4(AICDA):c.566T>G (p.Leu189Ter)
NM_020661.4(AICDA):c.568C>G (p.Arg190Gly) rs769399833
NM_020661.4(AICDA):c.572A>T (p.Asp191Val)
NM_020661.4(AICDA):c.574G>A (p.Ala192Thr) rs2136430559
NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)
NM_020661.4(AICDA):c.73C>T (p.Arg25Cys)
NM_020661.4(AICDA):c.94G>A (p.Val32Ile)
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala) rs767319743
NM_020751.3(COG6):c.1036G>A (p.Val346Ile) rs1876874289
NM_020751.3(COG6):c.1043A>G (p.His348Arg) rs2138012022
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020751.3(COG6):c.1826+3A>C rs768907183
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
NM_020751.3(COG6):c.26T>A (p.Val9Asp) rs2137932050
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771
NM_020751.3(COG6):c.535A>G (p.Thr179Ala) rs1322763277
NM_020751.3(COG6):c.53A>G (p.Asn18Ser) rs2137932213
NM_020751.3(COG6):c.695G>A (p.Ser232Asn) rs780879386
NM_020751.3(COG6):c.70G>T (p.Ala24Ser) rs539907116
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
NM_020751.3(COG6):c.788+5G>A
NM_020751.3(COG6):c.80C>G (p.Thr27Ser) rs776763438
NM_020751.3(COG6):c.851C>T (p.Ala284Val) rs148869108
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
NM_020751.3(COG6):c.956C>T (p.Thr319Ile) rs1428739783
NM_020751.3(COG6):c.989T>C (p.Leu330Ser) rs1876747862
NM_020751.3(COG6):c.9G>C (p.Glu3Asp) rs1016478271
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) rs1208074975
NM_020779.4(WDR35):c.*1005C>A rs746476400
NM_020779.4(WDR35):c.*1270C>T rs568999408
NM_020779.4(WDR35):c.*1461A>C rs886055400
NM_020779.4(WDR35):c.*1637C>T rs1669848389
NM_020779.4(WDR35):c.*16T>C rs1669898811
NM_020779.4(WDR35):c.*1754C>G rs1188052659
NM_020779.4(WDR35):c.*1934A>G rs886055399
NM_020779.4(WDR35):c.*1960G>T rs1669835588
NM_020779.4(WDR35):c.*2029GTCT[1] rs566446459
NM_020779.4(WDR35):c.*2239G>A rs1042042509
NM_020779.4(WDR35):c.*2341G>C rs886055397
NM_020779.4(WDR35):c.*2629T>A rs1001737898
NM_020779.4(WDR35):c.*271A>G rs994131640
NM_020779.4(WDR35):c.*2962C>T rs886055393
NM_020779.4(WDR35):c.*2990G>T rs781556463
NM_020779.4(WDR35):c.*635C>T rs1669878199
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys) rs1572375239
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu) rs1228739567
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu) rs2103444974
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) rs1418266904
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
NM_020779.4(WDR35):c.1392G>T (p.Gly464=) rs1476590827
NM_020779.4(WDR35):c.1400+6del
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) rs1462353387
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala) rs2103417008
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser) rs2103416923
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) rs1416766008
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile) rs748998292
NM_020779.4(WDR35):c.1846-7T>A rs1479233566
NM_020779.4(WDR35):c.1866A>G (p.Gly622=) rs2103410659
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu) rs775076264
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys) rs2103405475
NM_020779.4(WDR35):c.2129G>A (p.Arg710His) rs370797645
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu) rs144493712
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val) rs1670697417
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln) rs1670696748
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg) rs748153278
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
NM_020779.4(WDR35):c.24+4A>G rs780961583
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) rs886055404
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg) rs2103403345
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) rs768049606
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) rs886055403
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg) rs2103399882
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser) rs2103463081
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs1670554390
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu) rs2103398404
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser) rs2103398314
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn) rs376786810
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
NM_020779.4(WDR35):c.2823G>A (p.Lys941=) rs2103398260
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) rs1558328135
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly) rs886055402
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu) rs750968053
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs1184414721
NM_020779.4(WDR35):c.297G>A (p.Met99Ile) rs779065567
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del) rs746953019
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile) rs201153804
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) rs886055406
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys) rs2103378015
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3363-29_3363-18del rs1270558293
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg) rs1558317812
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
NM_020779.4(WDR35):c.436+4A>G rs1672290200
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
NM_020779.4(WDR35):c.497C>T (p.Ala166Val) rs374556044
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
NM_020779.4(WDR35):c.837G>C (p.Gln279His) rs764069624
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)
NM_020921.4(NIN):c.3026G>A (p.Ser1009Asn) rs866350711
NM_020921.4(NIN):c.5302G>T (p.Val1768Phe) rs151233126
NM_020921.4(NIN):c.5781_5784del (p.Ser1927fs)
NM_020921.4(NIN):c.5830G>A (p.Glu1944Lys)
NM_020921.4(NIN):c.5912C>A (p.Pro1971Gln) rs200441923
NM_020964.3(EPG5):c.1049G>T (p.Arg350Leu)
NM_020964.3(EPG5):c.1057A>G (p.Arg353Gly)
NM_020964.3(EPG5):c.1070A>G (p.Asn357Ser)
NM_020964.3(EPG5):c.1098G>C (p.Lys366Asn)
NM_020964.3(EPG5):c.1112A>G (p.Lys371Arg) rs2143748127
NM_020964.3(EPG5):c.1126C>T (p.His376Tyr) rs2143747766
NM_020964.3(EPG5):c.1131_1132insGGCCAG (p.Gln377_Thr378insGlyGln) rs2143747690
NM_020964.3(EPG5):c.1148C>G (p.Ser383Cys) rs1431365834
NM_020964.3(EPG5):c.1169G>C (p.Arg390Thr) rs2143746816
NM_020964.3(EPG5):c.1182G>T (p.Glu394Asp)
NM_020964.3(EPG5):c.1204A>G (p.Ser402Gly)
NM_020964.3(EPG5):c.1237C>G (p.His413Asp)
NM_020964.3(EPG5):c.1237C>T (p.His413Tyr) rs2050930158
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.1261_1263del (p.Gln421del)
NM_020964.3(EPG5):c.1270A>G (p.Ser424Gly)
NM_020964.3(EPG5):c.1318T>C (p.Phe440Leu) rs200123131
NM_020964.3(EPG5):c.1346A>T (p.Asp449Val) rs2143722158
NM_020964.3(EPG5):c.1356T>G (p.Phe452Leu)
NM_020964.3(EPG5):c.1358A>T (p.His453Leu)
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp) rs370173694
NM_020964.3(EPG5):c.1391T>C (p.Val464Ala) rs572513821
NM_020964.3(EPG5):c.1415G>C (p.Cys472Ser)
NM_020964.3(EPG5):c.1443C>G (p.Asn481Lys)
NM_020964.3(EPG5):c.1462G>A (p.Ala488Thr)
NM_020964.3(EPG5):c.1499T>G (p.Ile500Ser)
NM_020964.3(EPG5):c.1504G>A (p.Val502Met)
NM_020964.3(EPG5):c.1539G>A (p.Met513Ile) rs369120436
NM_020964.3(EPG5):c.1540C>A (p.Gln514Lys)
NM_020964.3(EPG5):c.1544C>A (p.Ser515Tyr) rs746558016
NM_020964.3(EPG5):c.1562C>G (p.Ser521Cys)
NM_020964.3(EPG5):c.1564C>G (p.Pro522Ala) rs748453305
NM_020964.3(EPG5):c.1571+3A>G
NM_020964.3(EPG5):c.1590G>A (p.Met530Ile)
NM_020964.3(EPG5):c.1625C>G (p.Ser542Cys)
NM_020964.3(EPG5):c.1625C>T (p.Ser542Phe) rs754742313
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020964.3(EPG5):c.164T>G (p.Phe55Cys) rs2143794640
NM_020964.3(EPG5):c.1652C>T (p.Thr551Met)
NM_020964.3(EPG5):c.1664A>T (p.Glu555Val) rs2050789196
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu) rs1302366422
NM_020964.3(EPG5):c.1708C>G (p.Leu570Val)
NM_020964.3(EPG5):c.1783A>G (p.Lys595Glu) rs1483709735
NM_020964.3(EPG5):c.1792+6C>T rs2145912247
NM_020964.3(EPG5):c.1796A>T (p.Asp599Val)
NM_020964.3(EPG5):c.1816A>G (p.Arg606Gly) rs2050711394
NM_020964.3(EPG5):c.181A>G (p.Lys61Glu)
NM_020964.3(EPG5):c.1825G>A (p.Glu609Lys)
NM_020964.3(EPG5):c.184G>A (p.Val62Met)
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile) rs572756147
NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro) rs2145906621
NM_020964.3(EPG5):c.1880G>A (p.Gly627Glu) rs1488725589
NM_020964.3(EPG5):c.1904G>T (p.Arg635Leu) rs761134702
NM_020964.3(EPG5):c.1907A>G (p.Tyr636Cys) rs2145906346
NM_020964.3(EPG5):c.1910G>T (p.Arg637Met)
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro) rs2050708572
NM_020964.3(EPG5):c.1944-3C>G
NM_020964.3(EPG5):c.1952T>C (p.Leu651Pro)
NM_020964.3(EPG5):c.1954G>A (p.Gly652Ser)
NM_020964.3(EPG5):c.1954G>T (p.Gly652Cys) rs754417895
NM_020964.3(EPG5):c.1970A>G (p.His657Arg)
NM_020964.3(EPG5):c.1976C>T (p.Ala659Val)
NM_020964.3(EPG5):c.19C>T (p.Pro7Ser)
NM_020964.3(EPG5):c.2019G>T (p.Gln673His) rs928367570
NM_020964.3(EPG5):c.2030T>C (p.Met677Thr)
NM_020964.3(EPG5):c.2044G>A (p.Val682Ile) rs2050618634
NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys) rs1568173320
NM_020964.3(EPG5):c.2071G>A (p.Ala691Thr) rs2145880722
NM_020964.3(EPG5):c.20C>A (p.Pro7His) rs1368802413
NM_020964.3(EPG5):c.20C>T (p.Pro7Leu) rs1368802413
NM_020964.3(EPG5):c.2105G>A (p.Gly702Asp)
NM_020964.3(EPG5):c.2157G>A (p.Met719Ile) rs2145846069
NM_020964.3(EPG5):c.2164A>G (p.Lys722Glu) rs2145845962
NM_020964.3(EPG5):c.2180T>C (p.Met727Thr) rs2050483526
NM_020964.3(EPG5):c.2182C>T (p.His728Tyr) rs2145845822
NM_020964.3(EPG5):c.2219C>T (p.Ser740Phe)
NM_020964.3(EPG5):c.2255A>G (p.Gln752Arg) rs2050480635
NM_020964.3(EPG5):c.2272A>C (p.Thr758Pro) rs2145819702
NM_020964.3(EPG5):c.2272A>G (p.Thr758Ala) rs2145819702
NM_020964.3(EPG5):c.2275A>G (p.Asn759Asp)
NM_020964.3(EPG5):c.2338G>A (p.Ala780Thr)
NM_020964.3(EPG5):c.2346G>A (p.Met782Ile) rs2145819246
NM_020964.3(EPG5):c.2378A>G (p.Asp793Gly)
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe) rs376598755
NM_020964.3(EPG5):c.240G>A (p.Met80Ile) rs1410991160
NM_020964.3(EPG5):c.2430G>T (p.Leu810Phe) rs1192483869
NM_020964.3(EPG5):c.2444C>T (p.Thr815Ile) rs2050338855
NM_020964.3(EPG5):c.2462G>A (p.Arg821Gln)
NM_020964.3(EPG5):c.2468T>A (p.Leu823His)
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
NM_020964.3(EPG5):c.2485G>A (p.Ala829Thr)
NM_020964.3(EPG5):c.2488G>C (p.Val830Leu)
NM_020964.3(EPG5):c.2507C>G (p.Ser836Cys)
NM_020964.3(EPG5):c.2538T>G (p.Ile846Met)
NM_020964.3(EPG5):c.2548G>A (p.Gly850Arg)
NM_020964.3(EPG5):c.2581C>T (p.Pro861Ser)
NM_020964.3(EPG5):c.2595G>T (p.Trp865Cys) rs1160786631
NM_020964.3(EPG5):c.2629G>C (p.Asp877His) rs1283557669
NM_020964.3(EPG5):c.2648A>G (p.Asn883Ser) rs767545552
NM_020964.3(EPG5):c.2656G>T (p.Val886Leu)
NM_020964.3(EPG5):c.2672T>G (p.Leu891Arg) rs2145782672
NM_020964.3(EPG5):c.2683A>G (p.Ile895Val)
NM_020964.3(EPG5):c.2684T>C (p.Ile895Thr)
NM_020964.3(EPG5):c.2713A>G (p.Lys905Glu)
NM_020964.3(EPG5):c.2719-4A>G
NM_020964.3(EPG5):c.2723C>T (p.Thr908Ile) rs2145765529
NM_020964.3(EPG5):c.2731C>G (p.Leu911Val) rs757435994
NM_020964.3(EPG5):c.2741C>T (p.Ala914Val)
NM_020964.3(EPG5):c.2747A>G (p.His916Arg)
NM_020964.3(EPG5):c.2758G>T (p.Ala920Ser) rs751746856
NM_020964.3(EPG5):c.2803C>G (p.Pro935Ala) rs2050196248
NM_020964.3(EPG5):c.2803C>T (p.Pro935Ser)
NM_020964.3(EPG5):c.280G>C (p.Glu94Gln) rs2143792761
NM_020964.3(EPG5):c.2813_2824del (p.Gly938_Ser941del)
NM_020964.3(EPG5):c.2840T>C (p.Val947Ala)
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe) rs2050184005
NM_020964.3(EPG5):c.2857A>G (p.Ile953Val) rs2145760173
NM_020964.3(EPG5):c.2936A>G (p.Lys979Arg)
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe) rs2050179430
NM_020964.3(EPG5):c.29G>A (p.Arg10Gln)
NM_020964.3(EPG5):c.3022C>T (p.Pro1008Ser)
NM_020964.3(EPG5):c.3062G>A (p.Cys1021Tyr)
NM_020964.3(EPG5):c.3083C>G (p.Thr1028Arg) rs2050174462
NM_020964.3(EPG5):c.310A>G (p.Lys104Glu)
NM_020964.3(EPG5):c.3113G>A (p.Cys1038Tyr) rs2050066834
NM_020964.3(EPG5):c.3115G>A (p.Ala1039Thr)
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile)
NM_020964.3(EPG5):c.3145G>T (p.Val1049Phe) rs2145725033
NM_020964.3(EPG5):c.3152C>T (p.Ser1051Leu)
NM_020964.3(EPG5):c.3156A>T (p.Arg1052Ser)
NM_020964.3(EPG5):c.3206A>G (p.Tyr1069Cys) rs2050064434
NM_020964.3(EPG5):c.3209C>G (p.Pro1070Arg)
NM_020964.3(EPG5):c.3240-10T>C
NM_020964.3(EPG5):c.3266T>C (p.Leu1089Pro)
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln) rs2050038241
NM_020964.3(EPG5):c.3279C>A (p.Ser1093Arg)
NM_020964.3(EPG5):c.3289C>G (p.Gln1097Glu) rs2145716910
NM_020964.3(EPG5):c.3292G>A (p.Gly1098Ser) rs1599566046
NM_020964.3(EPG5):c.329G>C (p.Arg110Thr) rs2143791830
NM_020964.3(EPG5):c.32C>A (p.Ala11Asp)
NM_020964.3(EPG5):c.3318G>T (p.Lys1106Asn)
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.3355A>G (p.Asn1119Asp)
NM_020964.3(EPG5):c.3362A>G (p.Lys1121Arg)
NM_020964.3(EPG5):c.3363G>T (p.Lys1121Asn)
NM_020964.3(EPG5):c.3384G>A (p.Gln1128=) rs2050035169
NM_020964.3(EPG5):c.3400A>T (p.Ser1134Cys)
NM_020964.3(EPG5):c.341G>T (p.Gly114Val) rs1465876496
NM_020964.3(EPG5):c.3424C>T (p.Pro1142Ser)
NM_020964.3(EPG5):c.343G>A (p.Asp115Asn)
NM_020964.3(EPG5):c.3455C>G (p.Ala1152Gly)
NM_020964.3(EPG5):c.3470A>G (p.His1157Arg)
NM_020964.3(EPG5):c.3472C>T (p.Leu1158Phe) rs201959853
NM_020964.3(EPG5):c.3489A>C (p.Gln1163His)
NM_020964.3(EPG5):c.3493A>C (p.Ile1165Leu)
NM_020964.3(EPG5):c.3501C>A (p.Phe1167Leu)
NM_020964.3(EPG5):c.3505A>T (p.Met1169Leu)
NM_020964.3(EPG5):c.3511C>G (p.His1171Asp) rs774835244
NM_020964.3(EPG5):c.3512A>G (p.His1171Arg) rs1400525515
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)
NM_020964.3(EPG5):c.353T>C (p.Val118Ala) rs2143791192
NM_020964.3(EPG5):c.3555A>G (p.Ile1185Met)
NM_020964.3(EPG5):c.3556C>G (p.Gln1186Glu)
NM_020964.3(EPG5):c.3565C>G (p.Leu1189Val) rs781321117
NM_020964.3(EPG5):c.3582+3A>G rs1210376180
NM_020964.3(EPG5):c.35AGGCCA[3] (p.12KA[3]) rs769267797
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp) rs764221778
NM_020964.3(EPG5):c.3629T>C (p.Val1210Ala) rs2050011051
NM_020964.3(EPG5):c.3689C>A (p.Thr1230Asn) rs772294581
NM_020964.3(EPG5):c.371C>T (p.Pro124Leu)
NM_020964.3(EPG5):c.3720C>A (p.Asn1240Lys) rs2145694247
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val) rs1258237376
NM_020964.3(EPG5):c.3746C>T (p.Ser1249Phe)
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro) rs1568149047
NM_020964.3(EPG5):c.3778G>A (p.Val1260Met)
NM_020964.3(EPG5):c.3784A>T (p.Asn1262Tyr)
NM_020964.3(EPG5):c.3799C>G (p.Pro1267Ala) rs2049964767
NM_020964.3(EPG5):c.379A>G (p.Asn127Asp)
NM_020964.3(EPG5):c.3808G>A (p.Ala1270Thr) rs1036019427
NM_020964.3(EPG5):c.3816+4C>A
NM_020964.3(EPG5):c.3816+4_3816+5dup rs2049964277
NM_020964.3(EPG5):c.3827C>T (p.Thr1276Ile) rs2049927667
NM_020964.3(EPG5):c.3856C>T (p.Leu1286Phe)
NM_020964.3(EPG5):c.3886C>G (p.His1296Asp)
NM_020964.3(EPG5):c.38C>T (p.Ala13Val)
NM_020964.3(EPG5):c.3931A>G (p.Ile1311Val) rs1000037657
NM_020964.3(EPG5):c.3938A>G (p.Gln1313Arg) rs2049924645
NM_020964.3(EPG5):c.3948C>A (p.Phe1316Leu)
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser) rs938393640
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.401C>G (p.Thr134Ser) rs2143790253
NM_020964.3(EPG5):c.4027C>T (p.Pro1343Ser)
NM_020964.3(EPG5):c.4037T>A (p.Ile1346Asn) rs201968905
NM_020964.3(EPG5):c.4037T>C (p.Ile1346Thr) rs201968905
NM_020964.3(EPG5):c.4047G>T (p.Leu1349Phe) rs1353924182
NM_020964.3(EPG5):c.4069A>C (p.Thr1357Pro)
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4083C>G (p.Asp1361Glu) rs2145666399
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe) rs2049869676
NM_020964.3(EPG5):c.4112G>A (p.Arg1371His) rs748634612
NM_020964.3(EPG5):c.4130G>C (p.Ser1377Thr)
NM_020964.3(EPG5):c.4136G>T (p.Gly1379Val) rs749548903
NM_020964.3(EPG5):c.4164_4165delinsAT (p.Gly1389Cys) rs2049867986
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.4195_4196delinsTT (p.Glu1399Leu) rs2145665111
NM_020964.3(EPG5):c.4205+3G>T
NM_020964.3(EPG5):c.4205+4A>T rs1281050179
NM_020964.3(EPG5):c.4214A>G (p.Asn1405Ser)
NM_020964.3(EPG5):c.4214A>T (p.Asn1405Ile)
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile) rs1406862002
NM_020964.3(EPG5):c.4232T>G (p.Leu1411Arg)
NM_020964.3(EPG5):c.4250A>C (p.Gln1417Pro) rs2049798752
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala) rs1231659675
NM_020964.3(EPG5):c.427G>A (p.Glu143Lys) rs2143789664
NM_020964.3(EPG5):c.4286A>G (p.His1429Arg)
NM_020964.3(EPG5):c.4286A>T (p.His1429Leu) rs1329572416
NM_020964.3(EPG5):c.4312G>A (p.Val1438Met) rs779984615
NM_020964.3(EPG5):c.4329+3G>A
NM_020964.3(EPG5):c.4330-6T>C
NM_020964.3(EPG5):c.4346A>G (p.Tyr1449Cys)
NM_020964.3(EPG5):c.4354A>G (p.Met1452Val) rs2145611568
NM_020964.3(EPG5):c.4356G>A (p.Met1452Ile) rs2145611526
NM_020964.3(EPG5):c.4361G>A (p.Arg1454His)
NM_020964.3(EPG5):c.4361G>T (p.Arg1454Leu) rs766875773
NM_020964.3(EPG5):c.437C>T (p.Ser146Leu) rs368719987
NM_020964.3(EPG5):c.4385C>G (p.Thr1462Ser)
NM_020964.3(EPG5):c.4400C>T (p.Thr1467Ile)
NM_020964.3(EPG5):c.4429C>G (p.Pro1477Ala) rs2049688459
NM_020964.3(EPG5):c.4429C>T (p.Pro1477Ser) rs2049688459
NM_020964.3(EPG5):c.4430C>T (p.Pro1477Leu)
NM_020964.3(EPG5):c.444_445delinsTT (p.Gln148_Gly149delinsHisCys) rs2143789374
NM_020964.3(EPG5):c.445G>A (p.Gly149Ser)
NM_020964.3(EPG5):c.4475C>G (p.Ala1492Gly)
NM_020964.3(EPG5):c.4480G>A (p.Glu1494Lys)
NM_020964.3(EPG5):c.4481A>G (p.Glu1494Gly)
NM_020964.3(EPG5):c.4497C>A (p.Asn1499Lys)
NM_020964.3(EPG5):c.449G>A (p.Gly150Glu)
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp) rs370776793
NM_020964.3(EPG5):c.4513G>A (p.Ala1505Thr) rs2145589544
NM_020964.3(EPG5):c.4514C>T (p.Ala1505Val)
NM_020964.3(EPG5):c.4520A>G (p.Gln1507Arg)
NM_020964.3(EPG5):c.4523C>G (p.Pro1508Arg)
NM_020964.3(EPG5):c.4589A>G (p.Gln1530Arg)
NM_020964.3(EPG5):c.4597_4599del (p.Ala1533del) rs2145588427
NM_020964.3(EPG5):c.4601C>T (p.Thr1534Ile) rs1599529163
NM_020964.3(EPG5):c.4605G>C (p.Gln1535His) rs2145588320
NM_020964.3(EPG5):c.4618G>C (p.Asp1540His)
NM_020964.3(EPG5):c.463G>T (p.Ala155Ser)
NM_020964.3(EPG5):c.4651G>T (p.Ala1551Ser)
NM_020964.3(EPG5):c.4660C>T (p.Arg1554Trp)
NM_020964.3(EPG5):c.4664A>T (p.Glu1555Val)
NM_020964.3(EPG5):c.4681C>G (p.Leu1561Val) rs944495980
NM_020964.3(EPG5):c.4700A>G (p.Asp1567Gly) rs2145576239
NM_020964.3(EPG5):c.4708C>A (p.Pro1570Thr)
NM_020964.3(EPG5):c.4727G>A (p.Arg1576His)
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro) rs1345938343
NM_020964.3(EPG5):c.4762G>A (p.Gly1588Ser)
NM_020964.3(EPG5):c.4771G>T (p.Gly1591Cys) rs370120497
NM_020964.3(EPG5):c.4790C>T (p.Ala1597Val) rs2145575510
NM_020964.3(EPG5):c.4792G>T (p.Ala1598Ser) rs769998231
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
NM_020964.3(EPG5):c.4823A>G (p.His1608Arg)
NM_020964.3(EPG5):c.4837A>G (p.Ile1613Val) rs746065186
NM_020964.3(EPG5):c.488C>T (p.Thr163Ile) rs1167290983
NM_020964.3(EPG5):c.4894G>T (p.Ala1632Ser)
NM_020964.3(EPG5):c.4903C>T (p.Pro1635Ser) rs2145491502
NM_020964.3(EPG5):c.4923A>C (p.Glu1641Asp) rs1383396807
NM_020964.3(EPG5):c.4931_4936del (p.Val1644_His1645del) rs2145491212
NM_020964.3(EPG5):c.493C>G (p.Pro165Ala) rs2143788531
NM_020964.3(EPG5):c.4952+2dup rs2145491038
NM_020964.3(EPG5):c.4952+4A>G
NM_020964.3(EPG5):c.4952C>T (p.Thr1651Met)
NM_020964.3(EPG5):c.4960G>A (p.Val1654Met)
NM_020964.3(EPG5):c.4965T>G (p.Asn1655Lys) rs2049253483
NM_020964.3(EPG5):c.4979A>G (p.Gln1660Arg)
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val) rs2049251873
NM_020964.3(EPG5):c.5027T>C (p.Ile1676Thr)
NM_020964.3(EPG5):c.5033A>C (p.Asp1678Ala) rs2049251601
NM_020964.3(EPG5):c.5044G>A (p.Asp1682Asn)
NM_020964.3(EPG5):c.5047G>C (p.Glu1683Gln)
NM_020964.3(EPG5):c.5056C>T (p.Arg1686Cys)
NM_020964.3(EPG5):c.5168A>G (p.Asn1723Ser)
NM_020964.3(EPG5):c.5179T>C (p.Cys1727Arg)
NM_020964.3(EPG5):c.5203A>G (p.Thr1735Ala) rs2145444248
NM_020964.3(EPG5):c.5218C>A (p.Pro1740Thr) rs2145443901
NM_020964.3(EPG5):c.5233C>G (p.Gln1745Glu)
NM_020964.3(EPG5):c.5251G>A (p.Val1751Met)
NM_020964.3(EPG5):c.5322G>T (p.Trp1774Cys) rs2145423076
NM_020964.3(EPG5):c.5327G>C (p.Ser1776Thr)
NM_020964.3(EPG5):c.5329G>A (p.Ala1777Thr)
NM_020964.3(EPG5):c.5353C>T (p.Arg1785Cys)
NM_020964.3(EPG5):c.5371T>C (p.Ser1791Pro) rs2049117384
NM_020964.3(EPG5):c.5384C>T (p.Ala1795Val)
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser) rs1411482327
NM_020964.3(EPG5):c.5399G>T (p.Gly1800Val)
NM_020964.3(EPG5):c.5403T>A (p.Leu1801=) rs751446448
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
NM_020964.3(EPG5):c.5413G>C (p.Glu1805Gln)
NM_020964.3(EPG5):c.5420T>C (p.Ile1807Thr) rs764666107
NM_020964.3(EPG5):c.5427G>A (p.Met1809Ile) rs1311100994
NM_020964.3(EPG5):c.5455A>G (p.Thr1819Ala)
NM_020964.3(EPG5):c.5492G>A (p.Ser1831Asn)
NM_020964.3(EPG5):c.5500C>A (p.Leu1834Ile) rs2049113990
NM_020964.3(EPG5):c.551G>T (p.Gly184Val)
NM_020964.3(EPG5):c.5531A>G (p.Gln1844Arg) rs1232750336
NM_020964.3(EPG5):c.5548T>A (p.Cys1850Ser) rs1599479322
NM_020964.3(EPG5):c.5548T>C (p.Cys1850Arg) rs1599479322
NM_020964.3(EPG5):c.5563C>G (p.Leu1855Val) rs1023469699
NM_020964.3(EPG5):c.5570C>T (p.Ala1857Val)
NM_020964.3(EPG5):c.5576G>T (p.Gly1859Val) rs1450706583
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser) rs34977955
NM_020964.3(EPG5):c.5592C>G (p.Ser1864Arg) rs2145404973
NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg) rs762207905
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp) rs762207905
NM_020964.3(EPG5):c.5608G>C (p.Ala1870Pro)
NM_020964.3(EPG5):c.5614A>G (p.Thr1872Ala) rs1568116795
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5637C>G (p.Ser1879Arg) rs2049060710
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val) rs750003350
NM_020964.3(EPG5):c.5667+4T>C rs2049058336
NM_020964.3(EPG5):c.5689C>T (p.Leu1897Phe) rs2049037342
NM_020964.3(EPG5):c.5700T>G (p.Phe1900Leu)
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys) rs1555666104
NM_020964.3(EPG5):c.5761A>T (p.Ser1921Cys) rs2145393709
NM_020964.3(EPG5):c.5764C>G (p.Pro1922Ala)
NM_020964.3(EPG5):c.5774C>G (p.Ala1925Gly) rs2145393537
NM_020964.3(EPG5):c.5819A>T (p.Asp1940Val)
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
NM_020964.3(EPG5):c.5854G>A (p.Ala1952Thr) rs111806310
NM_020964.3(EPG5):c.5858G>A (p.Ser1953Asn)
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg) rs1295248603
NM_020964.3(EPG5):c.5890G>T (p.Val1964Leu)
NM_020964.3(EPG5):c.5929G>C (p.Glu1977Gln) rs750230003
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys) rs150214973
NM_020964.3(EPG5):c.5943-14T>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5960A>T (p.Tyr1987Phe) rs2145364969
NM_020964.3(EPG5):c.5972A>G (p.Glu1991Gly) rs2048970400
NM_020964.3(EPG5):c.6014C>T (p.Thr2005Ile) rs772171146
NM_020964.3(EPG5):c.6050-3T>C
NM_020964.3(EPG5):c.6068A>T (p.Asp2023Val) rs2145310998
NM_020964.3(EPG5):c.6095T>G (p.Met2032Arg) rs971428390
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.611A>C (p.Lys204Thr) rs749123170
NM_020964.3(EPG5):c.6130C>T (p.Pro2044Ser)
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)
NM_020964.3(EPG5):c.6166C>G (p.Arg2056Gly)
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6184G>T (p.Asp2062Tyr)
NM_020964.3(EPG5):c.6190C>T (p.His2064Tyr) rs1269756096
NM_020964.3(EPG5):c.6204G>T (p.Met2068Ile) rs2048848821
NM_020964.3(EPG5):c.6224A>T (p.Lys2075Ile)
NM_020964.3(EPG5):c.6225+6C>T
NM_020964.3(EPG5):c.6228G>A (p.Val2076=)
NM_020964.3(EPG5):c.6253T>G (p.Phe2085Val) rs769470632
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.6283G>A (p.Val2095Ile) rs2048776242
NM_020964.3(EPG5):c.6287A>C (p.Asn2096Thr) rs141854483
NM_020964.3(EPG5):c.6311C>G (p.Ala2104Gly)
NM_020964.3(EPG5):c.6323G>T (p.Ser2108Ile)
NM_020964.3(EPG5):c.635T>C (p.Val212Ala)
NM_020964.3(EPG5):c.6364T>C (p.Phe2122Leu) rs1025405891
NM_020964.3(EPG5):c.6419C>G (p.Pro2140Arg)
NM_020964.3(EPG5):c.641A>C (p.Lys214Thr)
NM_020964.3(EPG5):c.6421T>G (p.Leu2141Val) rs2145270811
NM_020964.3(EPG5):c.6428G>A (p.Ser2143Asn)
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.644T>G (p.Leu215Arg)
NM_020964.3(EPG5):c.6487A>C (p.Ser2163Arg)
NM_020964.3(EPG5):c.6494T>G (p.Leu2165Arg)
NM_020964.3(EPG5):c.6508A>G (p.Ser2170Gly) rs2145269888
NM_020964.3(EPG5):c.6560T>C (p.Ile2187Thr)
NM_020964.3(EPG5):c.6574A>G (p.Lys2192Glu)
NM_020964.3(EPG5):c.6595A>G (p.Ile2199Val) rs1555662276
NM_020964.3(EPG5):c.6621+4A>C
NM_020964.3(EPG5):c.6641A>G (p.Gln2214Arg) rs2145257667
NM_020964.3(EPG5):c.6658A>G (p.Met2220Val) rs1431261711
NM_020964.3(EPG5):c.6680T>A (p.Leu2227Gln) rs2145257250
NM_020964.3(EPG5):c.6682G>A (p.Glu2228Lys)
NM_020964.3(EPG5):c.6691G>A (p.Gly2231Arg)
NM_020964.3(EPG5):c.6725T>C (p.Met2242Thr)
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile) rs866193216
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020964.3(EPG5):c.6766+4A>C rs2048727518
NM_020964.3(EPG5):c.6779A>G (p.Gln2260Arg)
NM_020964.3(EPG5):c.6790A>G (p.Met2264Val)
NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)
NM_020964.3(EPG5):c.6803G>A (p.Ser2268Asn)
NM_020964.3(EPG5):c.6812T>A (p.Met2271Lys)
NM_020964.3(EPG5):c.6853G>T (p.Ala2285Ser)
NM_020964.3(EPG5):c.6865C>T (p.Arg2289Trp)
NM_020964.3(EPG5):c.6874A>G (p.Ile2292Val)
NM_020964.3(EPG5):c.6878G>A (p.Arg2293Gln)
NM_020964.3(EPG5):c.6889G>C (p.Gly2297Arg) rs1599429977
NM_020964.3(EPG5):c.692T>A (p.Val231Glu)
NM_020964.3(EPG5):c.6950C>T (p.Ala2317Val)
NM_020964.3(EPG5):c.7006G>C (p.Glu2336Gln)
NM_020964.3(EPG5):c.7013C>T (p.Pro2338Leu) rs2048570351
NM_020964.3(EPG5):c.7156G>A (p.Glu2386Lys)
NM_020964.3(EPG5):c.7169G>A (p.Arg2390Lys)
NM_020964.3(EPG5):c.7172A>G (p.Asn2391Ser)
NM_020964.3(EPG5):c.7183G>A (p.Val2395Met)
NM_020964.3(EPG5):c.7210G>A (p.Glu2404Lys) rs2145197221
NM_020964.3(EPG5):c.7227-14G>A
NM_020964.3(EPG5):c.722G>A (p.Arg241Gln)
NM_020964.3(EPG5):c.7231G>A (p.Val2411Met) rs764568339
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7266C>G (p.His2422Gln) rs2048553679
NM_020964.3(EPG5):c.727T>C (p.Tyr243His)
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His) rs2048553005
NM_020964.3(EPG5):c.7294A>T (p.Thr2432Ser) rs768694584
NM_020964.3(EPG5):c.7307A>G (p.Asp2436Gly) rs2048551891
NM_020964.3(EPG5):c.7324T>C (p.Ser2442Pro) rs764577859
NM_020964.3(EPG5):c.7334G>A (p.Arg2445Gln)
NM_020964.3(EPG5):c.7356C>G (p.Ser2452Arg)
NM_020964.3(EPG5):c.7372G>T (p.Ala2458Ser) rs2048549989
NM_020964.3(EPG5):c.7373C>T (p.Ala2458Val)
NM_020964.3(EPG5):c.7420C>T (p.Arg2474Trp)
NM_020964.3(EPG5):c.743C>T (p.Ser248Phe)
NM_020964.3(EPG5):c.7440C>G (p.Asn2480Lys) rs2048548037
NM_020964.3(EPG5):c.7442+5G>A rs1177839830
NM_020964.3(EPG5):c.7443-621A>G rs930302721
NM_020964.3(EPG5):c.7448G>A (p.Arg2483Gln) rs770594769
NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp) rs777272603
NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln) rs912810095
NM_020964.3(EPG5):c.7469C>T (p.Ala2490Val)
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile) rs1374928586
NM_020964.3(EPG5):c.7492C>T (p.Pro2498Ser)
NM_020964.3(EPG5):c.7507A>G (p.Ile2503Val) rs2048500326
NM_020964.3(EPG5):c.7510C>T (p.Arg2504Cys)
NM_020964.3(EPG5):c.7520C>G (p.Pro2507Arg) rs2145172677
NM_020964.3(EPG5):c.7523G>T (p.Gly2508Val) rs751623844
NM_020964.3(EPG5):c.7538T>C (p.Leu2513Pro) rs2145172527
NM_020964.3(EPG5):c.7545del (p.Ala2517fs) rs2145172418
NM_020964.3(EPG5):c.7557+5G>C
NM_020964.3(EPG5):c.7558-18A>T
NM_020964.3(EPG5):c.7558-5T>C
NM_020964.3(EPG5):c.7565A>G (p.Asn2522Ser) rs2048438947
NM_020964.3(EPG5):c.7568C>G (p.Ala2523Gly) rs2048438822
NM_020964.3(EPG5):c.7603G>A (p.Glu2535Lys)
NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr) rs748731055
NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr) rs1172390303
NM_020964.3(EPG5):c.7660C>A (p.Leu2554Ile) rs1239915974
NM_020964.3(EPG5):c.7666G>A (p.Asp2556Asn) rs2145147078
NM_020964.3(EPG5):c.7672A>T (p.Lys2558Ter)
NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser) rs757431427
NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly) rs2145146931
NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe) rs2145146898
NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter)
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln) rs763628666
NM_020964.3(EPG5):c.814G>A (p.Val272Ile) rs367846863
NM_020964.3(EPG5):c.830A>G (p.Glu277Gly) rs2050982781
NM_020964.3(EPG5):c.856G>A (p.Asp286Asn)
NM_020964.3(EPG5):c.871T>A (p.Tyr291Asn)
NM_020964.3(EPG5):c.964A>G (p.Lys322Glu) rs1294882967
NM_020964.3(EPG5):c.971G>A (p.Arg324Gln) rs769257858
NM_020964.3(EPG5):c.998T>C (p.Met333Thr) rs1052199553
NM_020982.4(CLDN9):c.500dup (p.Trp168fs) rs1567404609
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr) rs768220615
NM_021252.4(RAB18):c.-150G>A rs527459548
NM_021252.4(RAB18):c.-182G>A rs770568854
NM_021252.4(RAB18):c.-79T>A rs886046964
NM_021252.5(RAB18):c.*150C>A rs768390542
NM_021252.5(RAB18):c.*150C>T rs768390542
NM_021252.5(RAB18):c.*1589T>C rs1017507424
NM_021252.5(RAB18):c.*1680A>T rs886046972
NM_021252.5(RAB18):c.*16A>G rs886046968
NM_021252.5(RAB18):c.*2030G>T rs750141100
NM_021252.5(RAB18):c.*2085A>C rs1834992154
NM_021252.5(RAB18):c.*2985T>G rs1835014857
NM_021252.5(RAB18):c.*3046_*3047dup rs886046976
NM_021252.5(RAB18):c.*3227A>G rs1835021406
NM_021252.5(RAB18):c.*3293del rs573606717
NM_021252.5(RAB18):c.*3599dup rs779470678
NM_021252.5(RAB18):c.*3701GACT[1] rs759695566
NM_021252.5(RAB18):c.*3832C>A rs373663292
NM_021252.5(RAB18):c.*4039A>C rs886046982
NM_021252.5(RAB18):c.*822T>C rs1834959018
NM_021252.5(RAB18):c.*99C>T rs767920219
NM_021252.5(RAB18):c.103C>T (p.Pro35Ser)
NM_021252.5(RAB18):c.199C>G (p.Gln67Glu)
NM_021252.5(RAB18):c.270C>A (p.Val90=) rs750139202
NM_021252.5(RAB18):c.298G>C (p.Asp100His) rs748274360
NM_021628.3(ALOXE3):c.*161C>T rs745793871
NM_021628.3(ALOXE3):c.*222C>G rs886053583
NM_021628.3(ALOXE3):c.*314T>A rs886053582
NM_021628.3(ALOXE3):c.*481G>A rs1978528529
NM_021628.3(ALOXE3):c.*523A>G rs1978525756
NM_021628.3(ALOXE3):c.*641C>T rs886053581
NM_021628.3(ALOXE3):c.*654C>T rs971249277
NM_021628.3(ALOXE3):c.*693G>T rs886053579
NM_021628.3(ALOXE3):c.1499T>G (p.Val500Gly) rs1329512333
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT rs2151837897
NM_021628.3(ALOXE3):c.1635C>T (p.Ala545=) rs963782279
NM_021628.3(ALOXE3):c.325T>C (p.Cys109Arg) rs1980627705
NM_021628.3(ALOXE3):c.34C>T (p.Pro12Ser) rs893544249
NM_021628.3(ALOXE3):c.584C>T (p.Pro195Leu) rs139573113
NM_021628.3(ALOXE3):c.680+1G>T rs764781178
NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp) rs2151848449
NM_021628.3(ALOXE3):c.780G>A (p.Thr260=) rs148293767
NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr) rs747460667
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr) rs1055578473
NM_021828.5(HPSE2):c.55C>T (p.Pro19Ser) rs78935940
NM_021828.5:c.(1099-?_1320+1)[3]
NM_021828.5:c.(610+1_611-1)_(784+1_785-1)del
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021942.6(TRAPPC11):c.1011G>A (p.Gly337=)
NM_021942.6(TRAPPC11):c.1043T>G (p.Phe348Cys) rs1735605499
NM_021942.6(TRAPPC11):c.106G>A (p.Val36Ile) rs530405458
NM_021942.6(TRAPPC11):c.1074G>T (p.Gln358His) rs1735607583
NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)
NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln)
NM_021942.6(TRAPPC11):c.1107C>G (p.Asn369Lys)
NM_021942.6(TRAPPC11):c.1114-3C>T rs1579187262
NM_021942.6(TRAPPC11):c.1154A>C (p.Gln385Pro)
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu) rs1328121937
NM_021942.6(TRAPPC11):c.1175A>G (p.Tyr392Cys)
NM_021942.6(TRAPPC11):c.1179A>G (p.Gly393=)
NM_021942.6(TRAPPC11):c.1206A>G (p.Leu402=)
NM_021942.6(TRAPPC11):c.1208-5C>G rs185570336
NM_021942.6(TRAPPC11):c.1268A>G (p.Glu423Gly)
NM_021942.6(TRAPPC11):c.1276GTT[1] (p.Val427del)
NM_021942.6(TRAPPC11):c.1282C>T (p.His428Tyr)
NM_021942.6(TRAPPC11):c.1287+3A>G
NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val)
NM_021942.6(TRAPPC11):c.1337A>T (p.Tyr446Phe) rs149572534
NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)
NM_021942.6(TRAPPC11):c.1365A>G (p.Leu455=)
NM_021942.6(TRAPPC11):c.1366+5G>A
NM_021942.6(TRAPPC11):c.1367-3T>C rs1395631451
NM_021942.6(TRAPPC11):c.1372C>A (p.Gln458Lys)
NM_021942.6(TRAPPC11):c.1409C>G (p.Thr470Ser)
NM_021942.6(TRAPPC11):c.1422G>T (p.Lys474Asn) rs2111364937
NM_021942.6(TRAPPC11):c.1430A>T (p.Asp477Val)
NM_021942.6(TRAPPC11):c.1450C>T (p.Arg484Trp)
NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln)
NM_021942.6(TRAPPC11):c.1492A>G (p.Thr498Ala) rs2111365312
NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg)
NM_021942.6(TRAPPC11):c.1507T>C (p.Ser503Pro) rs1735879493
NM_021942.6(TRAPPC11):c.1532A>G (p.Asp511Gly)
NM_021942.6(TRAPPC11):c.1544A>C (p.Tyr515Ser)
NM_021942.6(TRAPPC11):c.1558C>T (p.Leu520Phe)
NM_021942.6(TRAPPC11):c.1585G>A (p.Asp529Asn) rs1735897918
NM_021942.6(TRAPPC11):c.1598G>A (p.Arg533Gln)
NM_021942.6(TRAPPC11):c.1612C>T (p.Leu538Phe) rs777110629
NM_021942.6(TRAPPC11):c.1615A>G (p.Ile539Val) rs1389363919
NM_021942.6(TRAPPC11):c.1616T>A (p.Ile539Lys) rs1554008768
NM_021942.6(TRAPPC11):c.1618A>G (p.Asn540Asp) rs1561045163
NM_021942.6(TRAPPC11):c.1618A>T (p.Asn540Tyr)
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg) rs1734710360
NM_021942.6(TRAPPC11):c.162G>C (p.Lys54Asn)
NM_021942.6(TRAPPC11):c.1630-4del
NM_021942.6(TRAPPC11):c.1637G>A (p.Ser546Asn)
NM_021942.6(TRAPPC11):c.1639C>A (p.Pro547Thr) rs766860723
NM_021942.6(TRAPPC11):c.1646C>T (p.Pro549Leu)
NM_021942.6(TRAPPC11):c.1650A>T (p.Glu550Asp) rs2111367892
NM_021942.6(TRAPPC11):c.1670C>T (p.Ala557Val) rs1474706926
NM_021942.6(TRAPPC11):c.1672G>C (p.Val558Leu) rs1162377602
NM_021942.6(TRAPPC11):c.1681G>T (p.Ala561Ser)
NM_021942.6(TRAPPC11):c.1689G>T (p.Lys563Asn)
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg) rs981293069
NM_021942.6(TRAPPC11):c.1708T>C (p.Ser570Pro) rs2111368109
NM_021942.6(TRAPPC11):c.1718G>T (p.Gly573Val)
NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser)
NM_021942.6(TRAPPC11):c.1736T>G (p.Ile579Arg)
NM_021942.6(TRAPPC11):c.1767G>T (p.Gln589His) rs1383829469
NM_021942.6(TRAPPC11):c.1769G>A (p.Cys590Tyr) rs1483395556
NM_021942.6(TRAPPC11):c.1784A>T (p.His595Leu) rs1465799720
NM_021942.6(TRAPPC11):c.1793G>A (p.Ser598Asn) rs1735985130
NM_021942.6(TRAPPC11):c.1801G>T (p.Val601Phe)
NM_021942.6(TRAPPC11):c.1837G>C (p.Ala613Pro) rs769979581
NM_021942.6(TRAPPC11):c.1876G>A (p.Val626Ile)
NM_021942.6(TRAPPC11):c.1893+5T>A rs1735992541
NM_021942.6(TRAPPC11):c.1893+6G>C rs772573994
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu) rs1734713616
NM_021942.6(TRAPPC11):c.1934C>T (p.Ala645Val) rs2111060645
NM_021942.6(TRAPPC11):c.1981C>G (p.Pro661Ala) rs764163856
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu) rs1415116624
NM_021942.6(TRAPPC11):c.2029G>C (p.Asp677His)
NM_021942.6(TRAPPC11):c.2059G>T (p.Val687Leu)
NM_021942.6(TRAPPC11):c.2059_2064del (p.Val687_Asp688del) rs2111064799
NM_021942.6(TRAPPC11):c.2068G>C (p.Ala690Pro) rs2111064820
NM_021942.6(TRAPPC11):c.2077A>C (p.Asn693His) rs374682349
NM_021942.6(TRAPPC11):c.2077A>G (p.Asn693Asp)
NM_021942.6(TRAPPC11):c.208A>C (p.Thr70Pro)
NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala)
NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His)
NM_021942.6(TRAPPC11):c.2116G>A (p.Gly706Arg)
NM_021942.6(TRAPPC11):c.211T>C (p.Ser71Pro) rs1734877199
NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu)
NM_021942.6(TRAPPC11):c.2127T>A (p.Asp709Glu)
NM_021942.6(TRAPPC11):c.2146G>T (p.Ala716Ser) rs2111065128
NM_021942.6(TRAPPC11):c.2147C>A (p.Ala716Asp) rs143990563
NM_021942.6(TRAPPC11):c.2165C>G (p.Ser722Cys)
NM_021942.6(TRAPPC11):c.2170A>G (p.Lys724Glu)
NM_021942.6(TRAPPC11):c.2174G>A (p.Arg725Lys)
NM_021942.6(TRAPPC11):c.2177G>T (p.Arg726Leu) rs775221903
NM_021942.6(TRAPPC11):c.2199A>T (p.Glu733Asp)
NM_021942.6(TRAPPC11):c.219G>T (p.Glu73Asp) rs138760818
NM_021942.6(TRAPPC11):c.2216T>C (p.Ile739Thr) rs2111065455
NM_021942.6(TRAPPC11):c.2218A>G (p.Ile740Val) rs2111065463
NM_021942.6(TRAPPC11):c.2220A>G (p.Ile740Met) rs2111065473
NM_021942.6(TRAPPC11):c.222G>T (p.Trp74Cys) rs776346354
NM_021942.6(TRAPPC11):c.2230A>G (p.Ser744Gly)
NM_021942.6(TRAPPC11):c.2231G>A (p.Ser744Asn) rs1736342623
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile) rs768000138
NM_021942.6(TRAPPC11):c.2238-4A>G rs1736369470
NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly) rs1381726046
NM_021942.6(TRAPPC11):c.2266G>A (p.Val756Ile)
NM_021942.6(TRAPPC11):c.2281G>A (p.Glu761Lys)
NM_021942.6(TRAPPC11):c.2282A>T (p.Glu761Val) rs1554009994
NM_021942.6(TRAPPC11):c.2284C>A (p.Pro762Thr) rs1375382372
NM_021942.6(TRAPPC11):c.2307G>T (p.Met769Ile) rs1554010022
NM_021942.6(TRAPPC11):c.2320G>A (p.Val774Met)
NM_021942.6(TRAPPC11):c.2330A>G (p.Gln777Arg)
NM_021942.6(TRAPPC11):c.2336A>G (p.His779Arg) rs1466846744
NM_021942.6(TRAPPC11):c.2341A>G (p.Lys781Glu)
NM_021942.6(TRAPPC11):c.2345C>T (p.Thr782Ile)
NM_021942.6(TRAPPC11):c.2371G>A (p.Ala791Thr)
NM_021942.6(TRAPPC11):c.2371G>T (p.Ala791Ser) rs1302946870
NM_021942.6(TRAPPC11):c.2384C>T (p.Pro795Leu) rs2111067527
NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)
NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg) rs1561053683
NM_021942.6(TRAPPC11):c.2449G>A (p.Glu817Lys) rs2111068368
NM_021942.6(TRAPPC11):c.2490C>G (p.Asp830Glu) rs1020680380
NM_021942.6(TRAPPC11):c.24C>A (p.Phe8Leu)
NM_021942.6(TRAPPC11):c.2508+5A>G rs1736402062
NM_021942.6(TRAPPC11):c.2513A>G (p.Glu838Gly) rs1554010221
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys) rs149626892
NM_021942.6(TRAPPC11):c.2531G>C (p.Arg844Pro) rs781082721
NM_021942.6(TRAPPC11):c.2531G>T (p.Arg844Leu) rs781082721
NM_021942.6(TRAPPC11):c.2540C>T (p.Thr847Ile) rs578119880
NM_021942.6(TRAPPC11):c.2545G>A (p.Gly849Ser)
NM_021942.6(TRAPPC11):c.2569G>A (p.Val857Ile)
NM_021942.6(TRAPPC11):c.2573C>T (p.Ser858Phe) rs2111070444
NM_021942.6(TRAPPC11):c.2581A>G (p.Ile861Val)
NM_021942.6(TRAPPC11):c.2588C>G (p.Thr863Arg)
NM_021942.6(TRAPPC11):c.2591C>G (p.Thr864Ser)
NM_021942.6(TRAPPC11):c.2593G>A (p.Val865Ile)
NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr)
NM_021942.6(TRAPPC11):c.2615G>C (p.Cys872Ser) rs936358583
NM_021942.6(TRAPPC11):c.2619G>T (p.Lys873Asn) rs1260523372
NM_021942.6(TRAPPC11):c.2672C>G (p.Ala891Gly) rs764114529
NM_021942.6(TRAPPC11):c.2744C>G (p.Thr915Arg) rs200936990
NM_021942.6(TRAPPC11):c.2745G>A (p.Thr915=)
NM_021942.6(TRAPPC11):c.2768G>C (p.Trp923Ser) rs1579213399
NM_021942.6(TRAPPC11):c.2773C>T (p.Leu925Phe) rs1455981485
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala) rs1219763538
NM_021942.6(TRAPPC11):c.2782_2784del (p.Val928del) rs1736612141
NM_021942.6(TRAPPC11):c.2785T>A (p.Ser929Thr)
NM_021942.6(TRAPPC11):c.2788A>G (p.Ser930Gly) rs1399140645
NM_021942.6(TRAPPC11):c.2789G>A (p.Ser930Asn)
NM_021942.6(TRAPPC11):c.2822T>A (p.Val941Glu)
NM_021942.6(TRAPPC11):c.2839C>A (p.Gln947Lys)
NM_021942.6(TRAPPC11):c.2843T>G (p.Val948Gly) rs1736618609
NM_021942.6(TRAPPC11):c.284C>T (p.Ala95Val) rs868075355
NM_021942.6(TRAPPC11):c.2850T>C (p.Asn950=) rs376728526
NM_021942.6(TRAPPC11):c.2869G>A (p.Glu957Lys) rs1736807463
NM_021942.6(TRAPPC11):c.2874T>G (p.Ser958Arg)
NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr)
NM_021942.6(TRAPPC11):c.2932G>A (p.Ala978Thr)
NM_021942.6(TRAPPC11):c.2941C>A (p.His981Asn) rs777281515
NM_021942.6(TRAPPC11):c.2942A>G (p.His981Arg) rs1554011266
NM_021942.6(TRAPPC11):c.2964G>T (p.Arg988Ser) rs1736982388
NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile)
NM_021942.6(TRAPPC11):c.2989A>G (p.Ile997Val)
NM_021942.6(TRAPPC11):c.301T>C (p.Tyr101His)
NM_021942.6(TRAPPC11):c.3023T>C (p.Ile1008Thr)
NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr)
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe) rs79057512
NM_021942.6(TRAPPC11):c.3058C>G (p.Leu1020Val) rs1737096044
NM_021942.6(TRAPPC11):c.3074G>T (p.Arg1025Leu) rs374203755
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu) rs762555782
NM_021942.6(TRAPPC11):c.3119C>T (p.Thr1040Ile)
NM_021942.6(TRAPPC11):c.3121G>A (p.Asp1041Asn) rs1353717821
NM_021942.6(TRAPPC11):c.3124T>G (p.Leu1042Val)
NM_021942.6(TRAPPC11):c.3137T>C (p.Val1046Ala) rs1737100573
NM_021942.6(TRAPPC11):c.3145T>C (p.Ser1049Pro)
NM_021942.6(TRAPPC11):c.3151G>A (p.Glu1051Lys) rs1252896838
NM_021942.6(TRAPPC11):c.3200G>T (p.Arg1067Leu)
NM_021942.6(TRAPPC11):c.3215C>A (p.Thr1072Lys) rs147061560
NM_021942.6(TRAPPC11):c.3225A>T (p.Glu1075Asp)
NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser)
NM_021942.6(TRAPPC11):c.3242A>G (p.Tyr1081Cys)
NM_021942.6(TRAPPC11):c.3254C>T (p.Ala1085Val)
NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu)
NM_021942.6(TRAPPC11):c.3309C>A (p.Phe1103Leu)
NM_021942.6(TRAPPC11):c.3313A>G (p.Asn1105Asp) rs770901450
NM_021942.6(TRAPPC11):c.3325A>G (p.Arg1109Gly) rs1278065030
NM_021942.6(TRAPPC11):c.3328C>G (p.Arg1110Gly)
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala) rs866236252
NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly)
NM_021942.6(TRAPPC11):c.349T>C (p.Cys117Arg) rs2111301611
NM_021942.6(TRAPPC11):c.358A>G (p.Arg120Gly)
NM_021942.6(TRAPPC11):c.375-3C>T rs2111303718
NM_021942.6(TRAPPC11):c.386A>G (p.Gln129Arg) rs1734920268
NM_021942.6(TRAPPC11):c.3G>A (p.Met1Ile)
NM_021942.6(TRAPPC11):c.407C>T (p.Ala136Val) rs1472931579
NM_021942.6(TRAPPC11):c.421C>A (p.Gln141Lys) rs1734921670
NM_021942.6(TRAPPC11):c.446-4A>C
NM_021942.6(TRAPPC11):c.457A>G (p.Ile153Val)
NM_021942.6(TRAPPC11):c.487A>G (p.Asn163Asp) rs775567168
NM_021942.6(TRAPPC11):c.494G>A (p.Cys165Tyr)
NM_021942.6(TRAPPC11):c.49A>C (p.Met17Leu) rs149829052
NM_021942.6(TRAPPC11):c.503C>T (p.Ser168Leu) rs2111307561
NM_021942.6(TRAPPC11):c.512C>A (p.Ser171Tyr) rs1328868472
NM_021942.6(TRAPPC11):c.527C>T (p.Pro176Leu)
NM_021942.6(TRAPPC11):c.52G>A (p.Ala18Thr)
NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile)
NM_021942.6(TRAPPC11):c.53C>T (p.Ala18Val)
NM_021942.6(TRAPPC11):c.551A>T (p.Tyr184Phe)
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly) rs1554007320
NM_021942.6(TRAPPC11):c.585T>G (p.His195Gln) rs1411666786
NM_021942.6(TRAPPC11):c.642G>T (p.Leu214Phe) rs1579173461
NM_021942.6(TRAPPC11):c.659A>T (p.Gln220Leu) rs1561035054
NM_021942.6(TRAPPC11):c.660+16C>T
NM_021942.6(TRAPPC11):c.660+5G>T rs770891745
NM_021942.6(TRAPPC11):c.665T>C (p.Leu222Ser)
NM_021942.6(TRAPPC11):c.680A>G (p.Gln227Arg)
NM_021942.6(TRAPPC11):c.701G>A (p.Ser234Asn) rs1735354186
NM_021942.6(TRAPPC11):c.706T>A (p.Leu236Met) rs867066354
NM_021942.6(TRAPPC11):c.713A>C (p.Gln238Pro) rs1290042302
NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val)
NM_021942.6(TRAPPC11):c.737A>G (p.Asn246Ser) rs1414459418
NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His)
NM_021942.6(TRAPPC11):c.760G>A (p.Val254Ile) rs759142358
NM_021942.6(TRAPPC11):c.770T>G (p.Leu257Trp) rs2111340189
NM_021942.6(TRAPPC11):c.778C>G (p.His260Asp) rs760504776
NM_021942.6(TRAPPC11):c.784A>G (p.Thr262Ala) rs1050965809
NM_021942.6(TRAPPC11):c.792T>G (p.Ile264Met)
NM_021942.6(TRAPPC11):c.806C>G (p.Thr269Ser)
NM_021942.6(TRAPPC11):c.808A>G (p.Met270Val)
NM_021942.6(TRAPPC11):c.827A>G (p.Tyr276Cys)
NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg)
NM_021942.6(TRAPPC11):c.832-16A>G rs1194645106
NM_021942.6(TRAPPC11):c.855C>A (p.His285Gln) rs139419771
NM_021942.6(TRAPPC11):c.874A>G (p.Ile292Val)
NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val)
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp) rs1554007926
NM_021942.6(TRAPPC11):c.917T>C (p.Ile306Thr)
NM_021942.6(TRAPPC11):c.918T>G (p.Ile306Met) rs2111346233
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg) rs533000838
NM_021942.6(TRAPPC11):c.989T>C (p.Phe330Ser) rs1424040999
NM_021956.5(GRIK2):c.1095+2T>A
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe) rs1356066581
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile) rs1780549634
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) rs776117691
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) rs1575297274
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val) rs2080459950
NM_021971.4(GMPPB):c.129+3A>G
NM_021971.4(GMPPB):c.129+6A>C
NM_021971.4(GMPPB):c.129G>A (p.Ala43=) rs2108213396
NM_021971.4(GMPPB):c.15C>G (p.Ile5Met) rs1464233491
NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)
NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)
NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)
NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)
NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)
NM_021971.4(GMPPB):c.247C>G (p.Pro83Ala) rs2080451480
NM_021971.4(GMPPB):c.259+3C>G
NM_021971.4(GMPPB):c.259+6T>C rs2080451289
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup) rs777323266
NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)
NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile) rs1359728758
NM_021971.4(GMPPB):c.304G>A (p.Asp102Asn) rs368542417
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
NM_021971.4(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg) rs2080445379
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu) rs1183380163
NM_021971.4(GMPPB):c.402+7C>T rs746420101
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser) rs771732077
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala) rs2080436965
NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) rs374497499
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu) rs752805529
NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn) rs2080435262
NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly) rs2080434558
NM_021971.4(GMPPB):c.562-7C>G rs2108211626
NM_021971.4(GMPPB):c.563T>C (p.Leu188Pro) rs781132109
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)
NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)
NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) rs2080431779
NM_021971.4(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.4(GMPPB):c.638A>G (p.Gln213Arg) rs2080430729
NM_021971.4(GMPPB):c.641-19_641-9del rs2080428796
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu) rs2108213481
NM_021971.4(GMPPB):c.741C>T (p.Gly247=) rs2108211246
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp) rs994922049
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) rs1015055492
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.4(GMPPB):c.769-10C>G rs2108211080
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met) rs201123231
NM_021971.4(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)
NM_021971.4(GMPPB):c.850G>A (p.Val284Met) rs2108210918
NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe) rs2108210916
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) rs769346834
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe) rs2080420731
NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp) rs1186936513
NM_021971.4(GMPPB):c.923T>G (p.Val308Gly) rs750488885
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu) rs775910135
NM_021971.4(GMPPB):c.940G>A (p.Val314Met) rs1343235792
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu) rs1343235792
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) rs1575297292
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
NM_021971.4(GMPPB):c.952-2A>G rs372512288
NM_021971.4(GMPPB):c.967G>A (p.Val323Met) rs758284245
NM_021971.4(GMPPB):c.967G>T (p.Val323Leu) rs758284245
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr) rs2080415182
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
NM_022089.4(ATP13A2):c.106-13G>A
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp) rs2077158233
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp) rs746292302
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg) rs1570833382
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly) rs780883238
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe) rs762628723
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln) rs201661480
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu) rs2100897670
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met) rs773702054
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr) rs1439546959
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val) rs2100884368
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly) rs2101131465
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu) rs760567858
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu) rs1570821678
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His) rs2101123287
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
NM_022089.4(ATP13A2):c.1542+13dup rs1367928615
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu) rs2077019285
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val) rs2077019135
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro) rs2100818906
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup) rs766184032
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) rs1379076892
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn) rs2100815818
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn) rs2100815502
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
NM_022089.4(ATP13A2):c.1749+15C>G
NM_022089.4(ATP13A2):c.1749+5G>C
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys) rs1251315572
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val) rs758957419
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile) rs764411847
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala) rs2100782693
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg) rs2100780847
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu) rs2077535736
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser) rs373607247
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu) rs2076943011
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met) rs1372021672
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly) rs973767624
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val) rs1401459588
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
NM_022089.4(ATP13A2):c.2251+5A>G
NM_022089.4(ATP13A2):c.2252-12C>G
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg) rs77630788
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile) rs56170027
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro) rs867014635
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu) rs2100727013
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr) rs2100725484
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg) rs147611385
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu) rs1235764815
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln) rs2100724045
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=) rs769033175
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) rs772243999
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg) rs2101118952
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg) rs148721722
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
NM_022089.4(ATP13A2):c.288+13C>G rs1300682662
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser) rs2100659067
NM_022089.4(ATP13A2):c.289-3C>T rs2101110558
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) rs772870846
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu) rs769445714
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala) rs776148733
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp) rs2100656614
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg) rs146559160
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) rs1557729552
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup) rs2100654427
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro) rs2076761037
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile) rs951420437
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
NM_022089.4(ATP13A2):c.3083+5G>A
NM_022089.4(ATP13A2):c.3084-10G>T rs368908107
NM_022089.4(ATP13A2):c.3084-7C>A
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu) rs377431904
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu) rs764988645
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
NM_022089.4(ATP13A2):c.3235+14C>T
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) rs1057522952
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) rs145674970
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg) rs779310083
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro) rs772666861
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn) rs2100626361
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser) rs201610681
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) rs1553164387
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg) rs2077491125
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer) rs1570752813
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser) rs1421953227
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala) rs2101102735
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala) rs1287774416
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu) rs766714391
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys) rs2101432066
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) rs762075619
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu) rs2077471676
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys) rs2101047661
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
NM_022089.4(ATP13A2):c.706-3C>T rs753707797
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val) rs561097876
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met) rs1557703924
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu) rs1213129765
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
NM_022089.4(ATP13A2):c.840+5G>A
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu) rs2077304764
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile) rs866353083
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg) rs948455777
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) rs752006308
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu) rs1557702165
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
NM_022095.4(ZNF335):c.1471G>C (p.Asp491His)
NM_022095.4(ZNF335):c.1665+61G>A rs2083829211
NM_022095.4(ZNF335):c.1665G>C (p.Pro555=) rs1201395437
NM_022095.4(ZNF335):c.1748C>T (p.Thr583Met)
NM_022095.4(ZNF335):c.201+85G>A
NM_022095.4(ZNF335):c.2047T>C (p.Cys683Arg)
NM_022095.4(ZNF335):c.2062C>T (p.Arg688Trp)
NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser) rs768996558
NM_022095.4(ZNF335):c.2891G>A (p.Cys964Tyr) rs148007831
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_022095.4(ZNF335):c.3206A>G (p.His1069Arg)
NM_022095.4(ZNF335):c.3274C>T (p.Arg1092Trp)
NM_022095.4(ZNF335):c.3589C>T (p.Gln1197Ter) rs1600517442
NM_022095.4(ZNF335):c.3887_3888del (p.His1296fs)
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_022098.4(XPNPEP3):c.*1246G>A rs886057516
NM_022098.4(XPNPEP3):c.*1301G>A rs185173339
NM_022098.4(XPNPEP3):c.*1439C>A rs897284135
NM_022098.4(XPNPEP3):c.*1458G>A rs886057520
NM_022098.4(XPNPEP3):c.*1470A>C rs530322352
NM_022098.4(XPNPEP3):c.*1557C>G rs1054673055
NM_022098.4(XPNPEP3):c.*2042G>A rs886057526
NM_022098.4(XPNPEP3):c.*2175C>T rs1569035427
NM_022098.4(XPNPEP3):c.*2312G>A rs2058244420
NM_022098.4(XPNPEP3):c.*2630C>T rs886057528
NM_022098.4(XPNPEP3):c.*2881C>T rs9623283
NM_022098.4(XPNPEP3):c.*2C>T rs149716028
NM_022098.4(XPNPEP3):c.*3046G>A rs886057535
NM_022098.4(XPNPEP3):c.*3298C>T rs886057537
NM_022098.4(XPNPEP3):c.*3618A>G rs747079119
NM_022098.4(XPNPEP3):c.*37T>C rs2058235224
NM_022098.4(XPNPEP3):c.*4166A>G rs1291419529
NM_022098.4(XPNPEP3):c.*4645C>G rs183511610
NM_022098.4(XPNPEP3):c.*4789C>T rs2058253616
NM_022098.4(XPNPEP3):c.*5096T>G rs886057543
NM_022098.4(XPNPEP3):c.*5162C>G rs2058254905
NM_022098.4(XPNPEP3):c.*5294C>T rs2058255381
NM_022098.4(XPNPEP3):c.*5631C>T rs886057546
NM_022098.4(XPNPEP3):c.*5656G>A rs2058256756
NM_022098.4(XPNPEP3):c.*5729A>G rs1470774653
NM_022098.4(XPNPEP3):c.*6164G>C rs886057549
NM_022098.4(XPNPEP3):c.*635C>T rs886057511
NM_022098.4(XPNPEP3):c.*85G>T rs886057509
NM_022098.4(XPNPEP3):c.*869T>A rs2058237749
NM_022098.4(XPNPEP3):c.*995T>C rs2058238193
NM_022098.4(XPNPEP3):c.-28C>G rs369687517
NM_022098.4(XPNPEP3):c.1093C>G (p.Leu365Val)
NM_022098.4(XPNPEP3):c.1140C>T (p.Ser380=) rs886057507
NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)
NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp)
NM_022098.4(XPNPEP3):c.1363T>C (p.Tyr455His)
NM_022098.4(XPNPEP3):c.1376A>G (p.Asp459Gly) rs1715106644
NM_022098.4(XPNPEP3):c.1379A>G (p.Asp460Gly)
NM_022098.4(XPNPEP3):c.1402C>T (p.Arg468Trp)
NM_022098.4(XPNPEP3):c.1427A>C (p.Asp476Ala)
NM_022098.4(XPNPEP3):c.1450T>C (p.Ser484Pro)
NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys)
NM_022098.4(XPNPEP3):c.1488G>T (p.Met496Ile)
NM_022098.4(XPNPEP3):c.1511G>A (p.Ser504Asn) rs2146283516
NM_022098.4(XPNPEP3):c.182-3T>C
NM_022098.4(XPNPEP3):c.287C>T (p.Thr96Ile)
NM_022098.4(XPNPEP3):c.289G>A (p.Val97Met)
NM_022098.4(XPNPEP3):c.292G>A (p.Val98Ile)
NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu) rs2146250280
NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)
NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)
NM_022098.4(XPNPEP3):c.64+5G>C
NM_022098.4(XPNPEP3):c.700C>T (p.Arg234Trp)
NM_022098.4(XPNPEP3):c.725G>T (p.Arg242Leu)
NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)
NM_022098.4(XPNPEP3):c.761G>A (p.Arg254Gln)
NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.*481G>A rs1842115067
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-197GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-6+13A>C rs1847565256
NM_022124.6(CDH23):c.10041C>A (p.Thr3347=) rs538081113
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.1081G>T (p.Ala361Ser) rs774524441
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1106T>C (p.Leu369Pro)
NM_022124.6(CDH23):c.1117G>A (p.Val373Met) rs573032828
NM_022124.6(CDH23):c.1141-3C>T rs1862820418
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1342A>T (p.Ile448Phe) rs760730664
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys) rs727504613
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile) rs1862880669
NM_022124.6(CDH23):c.1566C>T (p.Asp522=) rs1864422770
NM_022124.6(CDH23):c.1699G>T (p.Val567Leu) rs377148854
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala) rs1864515873
NM_022124.6(CDH23):c.1936G>A (p.Ala646Thr) rs1864696694
NM_022124.6(CDH23):c.1986+10C>A rs1864699424
NM_022124.6(CDH23):c.2100C>T (p.Arg700=) rs2132705726
NM_022124.6(CDH23):c.2162T>A (p.Ile721Asn) rs1458002238
NM_022124.6(CDH23):c.2182A>G (p.Ile728Val) rs1865286018
NM_022124.6(CDH23):c.2193G>A (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) rs199709482
NM_022124.6(CDH23):c.2330C>T (p.Thr777Met) rs199709482
NM_022124.6(CDH23):c.2337_2339del (p.Lys779_Asp780delinsAsn)
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp) rs1203928940
NM_022124.6(CDH23):c.2592C>G (p.Gly864=) rs747891923
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.276A>G (p.Pro92=) rs1589149152
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala) rs1308326827
NM_022124.6(CDH23):c.2805C>T (p.Arg935=) rs1040584418
NM_022124.6(CDH23):c.280G>C (p.Asp94His)
NM_022124.6(CDH23):c.2814C>T (p.Phe938=) rs749588146
NM_022124.6(CDH23):c.2817C>T (p.Leu939=) rs2132739969
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu)
NM_022124.6(CDH23):c.287A>T (p.Glu96Val) rs2132196489
NM_022124.6(CDH23):c.2929T>C (p.Ser977Pro) rs1865733199
NM_022124.6(CDH23):c.2952T>C (p.His984=) rs1564744738
NM_022124.6(CDH23):c.2990C>T (p.Pro997Leu) rs553541801
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) rs1064796283
NM_022124.6(CDH23):c.3093C>T (p.Ser1031=) rs1865817852
NM_022124.6(CDH23):c.3106+4C>T rs1900497
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) rs377100683
NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln) rs536438868
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys) rs1064794520
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=) rs1866031274
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys) rs751046027
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp) rs199866703
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu) rs763379895
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) rs886047134
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) rs886047135
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) rs377358096
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) rs764805425
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly) rs751192273
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val) rs483353051
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=) rs1839415432
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) rs1839415432
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala) rs1364542092
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=) rs373634236
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg) rs1438134577
NM_022124.6(CDH23):c.4210-12G>A rs115948943
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=) rs1564768174
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu) rs765103490
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser) rs756674688
NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu) rs374362883
NM_022124.6(CDH23):c.4418A>G (p.Asn1473Ser) rs1653650223
NM_022124.6(CDH23):c.4435G>A (p.Val1479Met) rs1839682678
NM_022124.6(CDH23):c.4457A>C (p.Asp1486Ala) rs2132844311
NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu) rs758050912
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly) rs773842427
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met) rs1446824013
NM_022124.6(CDH23):c.4693TAC[1] (p.Tyr1566del)
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys) rs775013186
NM_022124.6(CDH23):c.4756G>C (p.Ala1586Pro) rs573737471
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val) rs1839745979
NM_022124.6(CDH23):c.4884T>A (p.Asn1628Lys) rs777745599
NM_022124.6(CDH23):c.4937G>A (p.Gly1646Asp) rs759019656
NM_022124.6(CDH23):c.4978C>T (p.Leu1660=) rs763303805
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5001C>A (p.Asn1667Lys) rs1309537853
NM_022124.6(CDH23):c.5004C>T (p.Gly1668=) rs1840853887
NM_022124.6(CDH23):c.5026G>T (p.Ala1676Ser) rs56043301
NM_022124.6(CDH23):c.5045C>A (p.Thr1682Asn) rs1840855231
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5385T>C (p.Ser1795=) rs1841037687
NM_022124.6(CDH23):c.5477G>A (p.Arg1826Gln) rs780097768
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe) rs1841063934
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln) rs1483080564
NM_022124.6(CDH23):c.570C>G (p.Ile190Met) rs1236841357
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=) rs777270336
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.586G>C (p.Glu196Gln) rs753985914
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe) rs2132947982
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=) rs542473653
NM_022124.6(CDH23):c.5992G>A (p.Val1998Met) rs2132948074
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile) rs2132948196
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro) rs2132359067
NM_022124.6(CDH23):c.6140G>A (p.Gly2047Glu) rs1841241811
NM_022124.6(CDH23):c.6191A>G (p.Asp2064Gly)
NM_022124.6(CDH23):c.625-10G>A rs772135580
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu) rs780094972
NM_022124.6(CDH23):c.6322A>G (p.Ile2108Val) rs1453941490
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.6368G>A (p.Gly2123Glu) rs1187008343
NM_022124.6(CDH23):c.6375C>A (p.Ile2125=) rs16929354
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn) rs769241730
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu) rs761674470
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile) rs727504694
NM_022124.6(CDH23):c.6725T>A (p.Val2242Glu) rs772264240
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_022124.6(CDH23):c.699C>T (p.Asp233=) rs752101206
NM_022124.6(CDH23):c.7022C>G (p.Pro2341Arg) rs1841468965
NM_022124.6(CDH23):c.7060G>T (p.Val2354Phe) rs1589428432
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.7263C>A (p.Ile2421=) rs1841497737
NM_022124.6(CDH23):c.7363-8C>A rs2132971255
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) rs760879110
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=) rs747310070
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7581G>A (p.Ser2527=) rs751607601
NM_022124.6(CDH23):c.7616G>C (p.Gly2539Ala) rs1841602000
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala) rs548188123
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.7712T>C (p.Leu2571Pro)
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7807G>A (p.Asp2603Asn) rs780640943
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.7873-4A>G rs1047300881
NM_022124.6(CDH23):c.811A>T (p.Ile271Phe)
NM_022124.6(CDH23):c.8154C>T (p.Asn2718=) rs1841717352
NM_022124.6(CDH23):c.8178A>T (p.Pro2726=) rs1208919337
NM_022124.6(CDH23):c.8225C>G (p.Pro2742Arg) rs758360283
NM_022124.6(CDH23):c.8228G>A (p.Arg2743His) rs1269272160
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=) rs1841760426
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) rs397517356
NM_022124.6(CDH23):c.8282A>G (p.Asn2761Ser) rs779835256
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys) rs397517357
NM_022124.6(CDH23):c.8308+4G>C rs751021859
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) rs876657758
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His) rs202147495
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn) rs2132514962
NM_022124.6(CDH23):c.8479C>T (p.Leu2827Phe) rs1841774970
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.8560G>T (p.Gly2854Trp) rs2132989902
NM_022124.6(CDH23):c.8570C>T (p.Thr2857Ile) rs1341806761
NM_022124.6(CDH23):c.857T>C (p.Leu286Pro) rs1861132929
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys) rs1174493289
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr) rs1841789978
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile) rs746121407
NM_022124.6(CDH23):c.8722G>C (p.Gly2908Arg) rs2132990819
NM_022124.6(CDH23):c.8782T>G (p.Phe2928Val) rs1352008121
NM_022124.6(CDH23):c.8869G>A (p.Val2957Ile) rs369587122
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys) rs376881824
NM_022124.6(CDH23):c.8G>T (p.Arg3Leu) rs397517363
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.901C>A (p.Arg301=) rs397517364
NM_022124.6(CDH23):c.9078-7C>A rs749510793
NM_022124.6(CDH23):c.9137A>G (p.Asn3046Ser) rs1841918209
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu) rs876657760
NM_022124.6(CDH23):c.9292C>T (p.Leu3098Phe) rs746788999
NM_022124.6(CDH23):c.9336C>A (p.Ile3112=) rs1841945407
NM_022124.6(CDH23):c.9380+5G>C
NM_022124.6(CDH23):c.9381-105C>T
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr) rs2133006667
NM_022124.6(CDH23):c.9437C>A (p.Ala3146Glu) rs779480321
NM_022124.6(CDH23):c.9458C>T (p.Pro3153Leu) rs762930029
NM_022124.6(CDH23):c.9510+14G>T rs188563959
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9538G>A (p.Val3180Ile) rs557490269
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del) rs763993100
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly) rs532369554
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg) rs1842084788
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys) rs2133017674
NM_022124.6(CDH23):c.995C>T (p.Thr332Met) rs376301184
NM_022124.6(CDH23):c.9973C>T (p.Arg3325Cys) rs766510687
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val) rs2105208967
NM_022168.4(IFIH1):c.1013T>C (p.Val338Ala)
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.1024A>G (p.Ile342Val)
NM_022168.4(IFIH1):c.103C>G (p.Leu35Val)
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met) rs72650664
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr) rs762847175
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys) rs887114201
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter) rs887114201
NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg)
NM_022168.4(IFIH1):c.1070G>A (p.Gly357Glu)
NM_022168.4(IFIH1):c.1075G>C (p.Val359Leu)
NM_022168.4(IFIH1):c.1075G>T (p.Val359Phe)
NM_022168.4(IFIH1):c.1081G>A (p.Val361Ile)
NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)
NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser) rs1410059196
NM_022168.4(IFIH1):c.1095+1G>A rs140125523
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1095+4T>C
NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val) rs587777576
NM_022168.4(IFIH1):c.1118T>C (p.Phe373Ser) rs2105203313
NM_022168.4(IFIH1):c.1121G>T (p.Arg374Leu) rs145520044
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg) rs1682830281
NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg)
NM_022168.4(IFIH1):c.1151G>C (p.Trp384Ser) rs752544919
NM_022168.4(IFIH1):c.1151G>T (p.Trp384Leu)
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His) rs1682829536
NM_022168.4(IFIH1):c.1156C>T (p.Arg386Cys)
NM_022168.4(IFIH1):c.1157G>T (p.Arg386Leu) rs138611889
NM_022168.4(IFIH1):c.1159G>A (p.Val387Ile) rs374766201
NM_022168.4(IFIH1):c.1159G>T (p.Val387Phe)
NM_022168.4(IFIH1):c.1169T>G (p.Leu390Ter) rs2105203236
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp) rs1304955037
NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn)
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=) rs1682828092
NM_022168.4(IFIH1):c.1194A>G (p.Ile398Met)
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter) rs772585139
NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)
NM_022168.4(IFIH1):c.1207G>A (p.Val403Ile)
NM_022168.4(IFIH1):c.1208T>C (p.Val403Ala)
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala) rs111797285
NM_022168.4(IFIH1):c.1220G>A (p.Cys407Tyr)
NM_022168.4(IFIH1):c.1229T>C (p.Ile410Thr) rs746025085
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr) rs1682827216
NM_022168.4(IFIH1):c.1238C>T (p.Thr413Ile)
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe)
NM_022168.4(IFIH1):c.1270T>G (p.Leu424Val) rs762510649
NM_022168.4(IFIH1):c.1271del (p.Leu424fs) rs1180019447
NM_022168.4(IFIH1):c.1288G>T (p.Ala430Ser) rs2105203031
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr) rs1682826089
NM_022168.4(IFIH1):c.1306+6T>C rs2105202990
NM_022168.4(IFIH1):c.1321A>G (p.Ile441Val) rs2105202129
NM_022168.4(IFIH1):c.1321A>T (p.Ile441Phe)
NM_022168.4(IFIH1):c.1322T>C (p.Ile441Thr)
NM_022168.4(IFIH1):c.1324A>G (p.Ile442Val)
NM_022168.4(IFIH1):c.1342_1343del (p.Thr448fs)
NM_022168.4(IFIH1):c.1343C>T (p.Thr448Ile) rs1576226711
NM_022168.4(IFIH1):c.1345A>C (p.Asn449His)
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp) rs764763183
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu) rs147642994
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys) rs1682808224
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)
NM_022168.4(IFIH1):c.1380T>A (p.His460Gln)
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val) rs2105201962
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu) rs1247355630
NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)
NM_022168.4(IFIH1):c.138T>G (p.Ile46Met)
NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)
NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)
NM_022168.4(IFIH1):c.1407_1417del (p.Asn469fs)
NM_022168.4(IFIH1):c.1419del (p.Glu474fs) rs2105201912
NM_022168.4(IFIH1):c.1431_1439del (p.Val478_Pro480del)
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met) rs1018712289
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His) rs753401995
NM_022168.4(IFIH1):c.1449G>C (p.Gln483His)
NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu)
NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)
NM_022168.4(IFIH1):c.1471C>T (p.Pro491Ser)
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp) rs1474848285
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg) rs1682805179
NM_022168.4(IFIH1):c.1483G>C (p.Gly495Arg)
NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly)
NM_022168.4(IFIH1):c.149T>G (p.Val50Gly)
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser) rs1485039163
NM_022168.4(IFIH1):c.14A>G (p.Tyr5Cys)
NM_022168.4(IFIH1):c.14_15del (p.Tyr5fs)
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys) rs772032662
NM_022168.4(IFIH1):c.1513C>T (p.His505Tyr)
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln) rs147738489
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.1524+1G>T rs898118498
NM_022168.4(IFIH1):c.1524+2T>G rs865898522
NM_022168.4(IFIH1):c.1524+5G>A
NM_022168.4(IFIH1):c.1524+5G>C
NM_022168.4(IFIH1):c.1525C>T (p.Leu509=) rs2105200537
NM_022168.4(IFIH1):c.1526T>G (p.Leu509Arg) rs770811079
NM_022168.4(IFIH1):c.1528T>C (p.Cys510Arg) rs1576226013
NM_022168.4(IFIH1):c.1534A>C (p.Asn512His) rs2105200526
NM_022168.4(IFIH1):c.1534A>G (p.Asn512Asp)
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser) rs370753836
NM_022168.4(IFIH1):c.1540G>C (p.Asp514His)
NM_022168.4(IFIH1):c.1550C>T (p.Thr517Ile) rs2105200508
NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln)
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala) rs2105200485
NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)
NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)
NM_022168.4(IFIH1):c.1579C>A (p.Gln527Lys)
NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro)
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1592A>G (p.Gln531Arg)
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr) rs764183171
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser) rs764183171
NM_022168.4(IFIH1):c.1616T>C (p.Phe539Ser)
NM_022168.4(IFIH1):c.1627G>T (p.Asp543Tyr)
NM_022168.4(IFIH1):c.1628A>G (p.Asp543Gly)
NM_022168.4(IFIH1):c.162del (p.Asn55fs)
NM_022168.4(IFIH1):c.1641+16T>A
NM_022168.4(IFIH1):c.1641+1G>A
NM_022168.4(IFIH1):c.1641+3A>G
NM_022168.4(IFIH1):c.1642-1G>A rs1682743875
NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu)
NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr)
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys) rs1193030860
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys) rs111732322
NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro) rs752832328
NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys)
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser) rs2105198654
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs) rs1464362256
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1724C>T (p.Thr575Ile)
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter) rs2105198568
NM_022168.4(IFIH1):c.1744G>A (p.Ala582Thr)
NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
NM_022168.4(IFIH1):c.1762A>C (p.Lys588Gln)
NM_022168.4(IFIH1):c.1764del (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1765+1del rs1227440828
NM_022168.4(IFIH1):c.1765+2T>C
NM_022168.4(IFIH1):c.1765+5T>G rs1682738622
NM_022168.4(IFIH1):c.1766C>T (p.Ala589Val)
NM_022168.4(IFIH1):c.1769C>G (p.Ala590Gly) rs768993250
NM_022168.4(IFIH1):c.1769C>T (p.Ala590Val)
NM_022168.4(IFIH1):c.1774G>A (p.Glu592Lys)
NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser)
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys) rs191839015
NM_022168.4(IFIH1):c.1787A>G (p.Lys596Arg)
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys) rs963903258
NM_022168.4(IFIH1):c.1789G>C (p.Glu597Gln)
NM_022168.4(IFIH1):c.1792C>T (p.Arg598Cys)
NM_022168.4(IFIH1):c.1801G>A (p.Ala601Thr)
NM_022168.4(IFIH1):c.1808A>G (p.His603Arg)
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn) rs2105197801
NM_022168.4(IFIH1):c.1819T>C (p.Tyr607His)
NM_022168.4(IFIH1):c.1822_1824del (p.Asn608del)
NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)
NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val) rs1235926337
NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly)
NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)
NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile)
NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)
NM_022168.4(IFIH1):c.1862A>T (p.Asp621Val)
NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)
NM_022168.4(IFIH1):c.1865C>A (p.Ala622Glu)
NM_022168.4(IFIH1):c.1876C>G (p.Leu626Val)
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu) rs145818112
NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile) rs1682719356
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs) rs2105197614
NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)
NM_022168.4(IFIH1):c.1934G>C (p.Ser645Thr)
NM_022168.4(IFIH1):c.1936G>A (p.Asp646Asn)
NM_022168.4(IFIH1):c.1936G>C (p.Asp646His)
NM_022168.4(IFIH1):c.193A>C (p.Thr65Pro)
NM_022168.4(IFIH1):c.1940A>G (p.Glu647Gly)
NM_022168.4(IFIH1):c.1943del (p.Gly648fs) rs751231371
NM_022168.4(IFIH1):c.1949A>G (p.Asp650Gly)
NM_022168.4(IFIH1):c.194C>G (p.Thr65Ser)
NM_022168.4(IFIH1):c.194C>T (p.Thr65Ile)
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp) rs1682717892
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala) rs2105197504
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn) rs2105197482
NM_022168.4(IFIH1):c.1990A>C (p.Lys664Gln)
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_022168.4(IFIH1):c.1996C>G (p.Pro666Ala)
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln) rs2105238398
NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala)
NM_022168.4(IFIH1):c.2006T>G (p.Leu669Arg)
NM_022168.4(IFIH1):c.2008G>A (p.Asp670Asn) rs370203250
NM_022168.4(IFIH1):c.2012A>G (p.Glu671Gly) rs1682715644
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs) rs2105197403
NM_022168.4(IFIH1):c.201G>T (p.Glu67Asp) rs2105238393
NM_022168.4(IFIH1):c.2021G>A (p.Arg674Lys)
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr) rs758006242
NM_022168.4(IFIH1):c.2022A>G (p.Arg674=)
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val) rs1682712829
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr) rs1268091953
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe)
NM_022168.4(IFIH1):c.2044+12A>G
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2046A>C (p.Glu682Asp)
NM_022168.4(IFIH1):c.2056A>G (p.Met686Val)
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)
NM_022168.4(IFIH1):c.2068del (p.Leu690fs)
NM_022168.4(IFIH1):c.2072C>A (p.Ala691Asp)
NM_022168.4(IFIH1):c.2072C>T (p.Ala691Val)
NM_022168.4(IFIH1):c.2092_2304+447del
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) rs1682679223
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
NM_022168.4(IFIH1):c.2111dup (p.Leu704fs)
NM_022168.4(IFIH1):c.2113A>G (p.Arg705Gly)
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn) rs2105196747
NM_022168.4(IFIH1):c.2127G>A (p.Met709Ile)
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
NM_022168.4(IFIH1):c.2150A>G (p.Glu717Gly)
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro) rs2105196679
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_022168.4(IFIH1):c.2158C>T (p.Arg720Ter)
NM_022168.4(IFIH1):c.2159G>T (p.Arg720Leu)
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg) rs2105196666
NM_022168.4(IFIH1):c.216C>A (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.216C>G (p.His72Gln) rs774025268
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn) rs375745122
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala) rs1268036060
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg) rs1683544639
NM_022168.4(IFIH1):c.2212A>G (p.Ile738Val)
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) rs745948096
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp) rs765738865
NM_022168.4(IFIH1):c.2223T>A (p.Asn741Lys)
NM_022168.4(IFIH1):c.2231T>G (p.Phe744Cys)
NM_022168.4(IFIH1):c.223T>A (p.Trp75Arg) rs750844573
NM_022168.4(IFIH1):c.224G>C (p.Trp75Ser)
NM_022168.4(IFIH1):c.2257C>T (p.His753Tyr)
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln) rs1682675340
NM_022168.4(IFIH1):c.2261T>A (p.Leu754Gln)
NM_022168.4(IFIH1):c.226A>T (p.Thr76Ser) rs957068367
NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)
NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)
NM_022168.4(IFIH1):c.2280del (p.Ser760fs)
NM_022168.4(IFIH1):c.2286G>C (p.Glu762Asp)
NM_022168.4(IFIH1):c.2287T>C (p.Phe763Leu)
NM_022168.4(IFIH1):c.2299A>G (p.Thr767Ala) rs766399254
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2300C>T (p.Thr767Ile) rs2105196465
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2304G>A (p.Gln768=)
NM_022168.4(IFIH1):c.2305-3C>T rs2105193842
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro) rs367851471
NM_022168.4(IFIH1):c.2315AAG[1] (p.Glu773del)
NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe) rs2105193797
NM_022168.4(IFIH1):c.2323A>G (p.Ile775Val) rs1691096839
NM_022168.4(IFIH1):c.2324_2326del (p.Ile775del) rs2105193787
NM_022168.4(IFIH1):c.2339C>G (p.Thr780Ser)
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg) rs2105193747
NM_022168.4(IFIH1):c.2351A>G (p.Asn784Ser)
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala) rs2105193712
NM_022168.4(IFIH1):c.238G>A (p.Val80Met)
NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2407A>C (p.Ile803Leu)
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr) rs778884536
NM_022168.4(IFIH1):c.2413A>G (p.Ile805Val)
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe) rs1691095136
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met) rs1010120295
NM_022168.4(IFIH1):c.241G>A (p.Glu81Lys) rs2105238289
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys) rs752226580
NM_022168.4(IFIH1):c.2426T>C (p.Leu809Pro)
NM_022168.4(IFIH1):c.2429T>A (p.Val810Asp)
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala) rs1168844368
NM_022168.4(IFIH1):c.2443G>A (p.Ala815Thr)
NM_022168.4(IFIH1):c.2449G>A (p.Val817Ile)
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.2454+4C>A
NM_022168.4(IFIH1):c.2454+4C>G
NM_022168.4(IFIH1):c.2454+6T>G
NM_022168.4(IFIH1):c.2454G>A (p.Gln818=)
NM_022168.4(IFIH1):c.2455-1G>A
NM_022168.4(IFIH1):c.2455-6T>A rs2105192046
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.2459G>T (p.Arg820Leu) rs74162087
NM_022168.4(IFIH1):c.247C>T (p.Leu83Phe)
NM_022168.4(IFIH1):c.2481G>C (p.Glu827Asp)
NM_022168.4(IFIH1):c.2483G>T (p.Ser828Ile)
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
NM_022168.4(IFIH1):c.250C>G (p.Arg84Gly)
NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)
NM_022168.4(IFIH1):c.2525A>T (p.Glu842Val)
NM_022168.4(IFIH1):c.2527_2528inv (p.His843Cys)
NM_022168.4(IFIH1):c.2530G>C (p.Glu844Gln)
NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn)
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro) rs370618144
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr) rs1691055209
NM_022168.4(IFIH1):c.2560A>T (p.Met854Leu)
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr) rs768238624
NM_022168.4(IFIH1):c.2569G>C (p.Ala857Pro)
NM_022168.4(IFIH1):c.2574A>G (p.Ile858Met)
NM_022168.4(IFIH1):c.2575C>G (p.His859Asp) rs373382295
NM_022168.4(IFIH1):c.2576A>G (p.His859Arg)
NM_022168.4(IFIH1):c.257C>T (p.Thr86Ile) rs2105238259
NM_022168.4(IFIH1):c.2581del (p.Val861fs)
NM_022168.4(IFIH1):c.2587A>G (p.Asn863Asp)
NM_022168.4(IFIH1):c.2591T>C (p.Met864Thr)
NM_022168.4(IFIH1):c.2596C>T (p.Pro866Ser)
NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp) rs764489663
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp) rs760907862
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)
NM_022168.4(IFIH1):c.2616+3A>T
NM_022168.4(IFIH1):c.2616+6G>A rs761784724
NM_022168.4(IFIH1):c.2616G>C (p.Lys872Asn)
NM_022168.4(IFIH1):c.2617-1G>T
NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)
NM_022168.4(IFIH1):c.2623G>A (p.Glu875Lys)
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_022168.4(IFIH1):c.2639G>T (p.Ser880Ile)
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val) rs1169761887
NM_022168.4(IFIH1):c.2644A>C (p.Met882Leu) rs2105187946
NM_022168.4(IFIH1):c.2652G>T (p.Lys884Asn)
NM_022168.4(IFIH1):c.2658G>A (p.Met886Ile) rs2105187934
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter) rs1252022173
NM_022168.4(IFIH1):c.2687A>C (p.Tyr896Ser)
NM_022168.4(IFIH1):c.2689A>C (p.Lys897Gln)
NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)
NM_022168.4(IFIH1):c.2713T>C (p.Phe905Leu)
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe) rs1690962431
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile) rs1690962335
NM_022168.4(IFIH1):c.2728T>A (p.Cys910Ser)
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu) rs763049591
NM_022168.4(IFIH1):c.2744G>A (p.Cys915Tyr)
NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr) rs748895438
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val) rs2105238199
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys) rs2105187737
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly) rs1690960964
NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr)
NM_022168.4(IFIH1):c.2778G>A (p.Met926Ile)
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly) rs947699715
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu) rs747311719
NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs)
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp) rs374202040
NM_022168.4(IFIH1):c.2789A>G (p.Asn930Ser)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile) rs1576220013
NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)
NM_022168.4(IFIH1):c.2798del (p.Pro933fs)
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
NM_022168.4(IFIH1):c.2810A>G (p.Glu937Gly)
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val) rs2105187108
NM_022168.4(IFIH1):c.2812del (p.Leu938fs) rs2105187112
NM_022168.4(IFIH1):c.2816del (p.Tyr939fs)
NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met) rs2105187091
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter) rs2105187079
NM_022168.4(IFIH1):c.2832C>G (p.Asn944Lys)
NM_022168.4(IFIH1):c.2832del (p.Asn944fs)
NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn)
NM_022168.4(IFIH1):c.284T>C (p.Met95Thr) rs769741397
NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn) rs2105187036
NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile) rs748006043
NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)
NM_022168.4(IFIH1):c.2867T>C (p.Ile956Thr)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser) rs1466752669
NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg) rs1559808756
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val) rs2105186932
NM_022168.4(IFIH1):c.2898+4A>G
NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)
NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)
NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)
NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr)
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter) rs1690944637
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu) rs2105186745
NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)
NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe)
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)
NM_022168.4(IFIH1):c.2952A>G (p.Ile984Met)
NM_022168.4(IFIH1):c.2954G>C (p.Arg985Thr)
NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile) rs74162090
NM_022168.4(IFIH1):c.296T>C (p.Leu99Pro) rs751197215
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu) rs763358277
NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr) rs2105186636
NM_022168.4(IFIH1):c.2990del (p.Lys997fs) rs2105186622
NM_022168.4(IFIH1):c.3001A>G (p.Lys1001Glu)
NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)
NM_022168.4(IFIH1):c.3005A>C (p.Lys1002Thr)
NM_022168.4(IFIH1):c.3006G>T (p.Lys1002Asn)
NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala) rs1690942148
NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)
NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)
NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)
NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr) rs1559808617
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu)
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val) rs1047156211
NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys)
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser) rs1355798943
NM_022168.4(IFIH1):c.332A>G (p.His111Arg) rs2105237997
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys) rs1419235573
NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter)
NM_022168.4(IFIH1):c.340T>A (p.Tyr114Asn)
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
NM_022168.4(IFIH1):c.364C>T (p.Gln122Ter)
NM_022168.4(IFIH1):c.366G>T (p.Gln122His)
NM_022168.4(IFIH1):c.367C>A (p.Pro123Thr)
NM_022168.4(IFIH1):c.367C>T (p.Pro123Ser) rs1683538119
NM_022168.4(IFIH1):c.36C>G (p.Arg12=) rs1683553380
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met) rs139219083
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val) rs139219083
NM_022168.4(IFIH1):c.384G>C (p.Lys128Asn)
NM_022168.4(IFIH1):c.386T>C (p.Leu129Pro) rs2105237875
NM_022168.4(IFIH1):c.389T>C (p.Leu130Pro) rs1683537130
NM_022168.4(IFIH1):c.391G>A (p.Val131Ile) rs2105237866
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn) rs1683536418
NM_022168.4(IFIH1):c.412T>A (p.Cys138Ser) rs759791512
NM_022168.4(IFIH1):c.413G>T (p.Cys138Phe)
NM_022168.4(IFIH1):c.416T>C (p.Met139Thr)
NM_022168.4(IFIH1):c.418G>T (p.Glu140Ter) rs766508793
NM_022168.4(IFIH1):c.443A>G (p.Asp148Gly)
NM_022168.4(IFIH1):c.448A>G (p.Asn150Asp) rs2105237729
NM_022168.4(IFIH1):c.448_453+39del
NM_022168.4(IFIH1):c.454-3C>G rs2105230636
NM_022168.4(IFIH1):c.454-4A>G rs1683376303
NM_022168.4(IFIH1):c.456del (p.Ile152fs) rs1683376227
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.460G>C (p.Ala154Pro)
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp) rs372313271
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser) rs1007619458
NM_022168.4(IFIH1):c.496G>C (p.Glu166Gln)
NM_022168.4(IFIH1):c.4T>A (p.Ser2Thr)
NM_022168.4(IFIH1):c.505A>G (p.Lys169Glu)
NM_022168.4(IFIH1):c.510G>C (p.Arg170Ser) rs2105230566
NM_022168.4(IFIH1):c.511A>C (p.Ile171Leu)
NM_022168.4(IFIH1):c.523G>A (p.Glu175Lys)
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs) rs2105238244
NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)
NM_022168.4(IFIH1):c.542T>C (p.Phe181Ser)
NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)
NM_022168.4(IFIH1):c.554T>C (p.Leu185Pro)
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro) rs189443152
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
NM_022168.4(IFIH1):c.577C>A (p.Leu193Ile)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.592A>G (p.Thr198Ala) rs1683373192
NM_022168.4(IFIH1):c.596G>T (p.Gly199Val)
NM_022168.4(IFIH1):c.599C>T (p.Ser200Phe) rs2105230439
NM_022168.4(IFIH1):c.602A>C (p.Asp201Ala)
NM_022168.4(IFIH1):c.614G>A (p.Ser205Asn)
NM_022168.4(IFIH1):c.617A>G (p.Asn206Ser)
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
NM_022168.4(IFIH1):c.622+3A>G
NM_022168.4(IFIH1):c.623-1G>A
NM_022168.4(IFIH1):c.626T>C (p.Ile209Thr)
NM_022168.4(IFIH1):c.629A>C (p.Glu210Ala)
NM_022168.4(IFIH1):c.633T>A (p.Asn211Lys)
NM_022168.4(IFIH1):c.63G>C (p.Arg21Ser) rs553228814
NM_022168.4(IFIH1):c.646G>A (p.Asp216Asn)
NM_022168.4(IFIH1):c.64G>A (p.Val22Met)
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr) rs2105226887
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala) rs1396124415
NM_022168.4(IFIH1):c.680C>A (p.Thr227Asn)
NM_022168.4(IFIH1):c.699G>A (p.Leu233=)
NM_022168.4(IFIH1):c.703A>G (p.Lys235Glu)
NM_022168.4(IFIH1):c.705G>T (p.Lys235Asn)
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter) rs1346345254
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr) rs753380568
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter) rs1399614346
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro) rs1392840230
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala) rs771145026
NM_022168.4(IFIH1):c.766T>G (p.Ser256Ala)
NM_022168.4(IFIH1):c.768A>G (p.Ser256=)
NM_022168.4(IFIH1):c.769+3A>G rs769979161
NM_022168.4(IFIH1):c.775G>C (p.Asp259His)
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr) rs1442046271
NM_022168.4(IFIH1):c.787G>A (p.Ala263Thr)
NM_022168.4(IFIH1):c.78C>G (p.Ile26Met)
NM_022168.4(IFIH1):c.797G>A (p.Ser266Asn)
NM_022168.4(IFIH1):c.797G>C (p.Ser266Thr)
NM_022168.4(IFIH1):c.80A>C (p.Gln27Pro) rs1261297304
NM_022168.4(IFIH1):c.80A>G (p.Gln27Arg)
NM_022168.4(IFIH1):c.810A>C (p.Leu270Phe)
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr) rs544744271
NM_022168.4(IFIH1):c.828T>A (p.His276Gln) rs2105214711
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
NM_022168.4(IFIH1):c.855_874+1dup
NM_022168.4(IFIH1):c.860T>C (p.Met287Thr)
NM_022168.4(IFIH1):c.863G>T (p.Gly288Val)
NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly)
NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)
NM_022168.4(IFIH1):c.874+6G>T
NM_022168.4(IFIH1):c.875-11A>G
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly) rs2105209194
NM_022168.4(IFIH1):c.896G>T (p.Arg299Ile)
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser) rs2105238788
NM_022168.4(IFIH1):c.901T>C (p.Ser301Pro)
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe) rs764283944
NM_022168.4(IFIH1):c.905C>T (p.Pro302Leu)
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu) rs1682932788
NM_022168.4(IFIH1):c.91G>T (p.Val31Leu) rs1683550615
NM_022168.4(IFIH1):c.926G>C (p.Arg309Thr)
NM_022168.4(IFIH1):c.929del (p.Pro310fs) rs1212715492
NM_022168.4(IFIH1):c.937del (p.Met313fs)
NM_022168.4(IFIH1):c.946G>A (p.Ala316Thr) rs1355343871
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser) rs1355343871
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly) rs1682931873
NM_022168.4(IFIH1):c.960G>C (p.Leu320Phe)
NM_022168.4(IFIH1):c.971A>G (p.Asn324Ser) rs2105209017
NM_022168.4(IFIH1):c.973A>T (p.Ile325Phe) rs1474944804
NM_022168.4(IFIH1):c.974T>C (p.Ile325Thr)
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr) rs1682931491
NM_022168.4(IFIH1):c.97G>T (p.Asp33Tyr)
NM_022168.4(IFIH1):c.980T>C (p.Ile327Thr)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=) rs1576229569
NM_022168.4(IFIH1):c.997A>G (p.Ser333Gly)
NM_022336.4(EDAR):c.*1181C>T rs886054741
NM_022336.4(EDAR):c.*1199C>T rs372575462
NM_022336.4(EDAR):c.*1226A>C rs886054740
NM_022336.4(EDAR):c.*1319C>G rs886054739
NM_022336.4(EDAR):c.*1535C>T rs886054738
NM_022336.4(EDAR):c.*1563C>T rs1696563393
NM_022336.4(EDAR):c.*1647C>T rs1696561495
NM_022336.4(EDAR):c.*2016G>C rs1436268689
NM_022336.4(EDAR):c.*2376T>C rs1696543184
NM_022336.4(EDAR):c.*447T>C rs1264182094
NM_022336.4(EDAR):c.*485C>T rs970440390
NM_022336.4(EDAR):c.*486G>A rs1386736657
NM_022336.4(EDAR):c.*546C>T rs1696591208
NM_022336.4(EDAR):c.*714T>G rs1348733331
NM_022336.4(EDAR):c.*791A>T rs1696582725
NM_022336.4(EDAR):c.*867A>G rs967989414
NM_022336.4(EDAR):c.*976A>G rs142529386
NM_022336.4(EDAR):c.-129G>T rs886054747
NM_022336.4(EDAR):c.-235G>A rs886054749
NM_022336.4(EDAR):c.-30A>C rs886054746
NM_022336.4(EDAR):c.-4G>A rs886054745
NM_022336.4(EDAR):c.1018G>A (p.Val340Met)
NM_022336.4(EDAR):c.1029T>C (p.Leu343=) rs1020417678
NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)
NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del) rs1574362124
NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser) rs1696614928
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) rs1696613834
NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) rs1574361959
NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)
NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)
NM_022336.4(EDAR):c.1183A>G (p.Met395Val) rs537348349
NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)
NM_022336.4(EDAR):c.1246G>A (p.Val416Met)
NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn) rs1388587376
NM_022336.4(EDAR):c.1264G>T (p.Asp422Tyr)
NM_022336.4(EDAR):c.1270G>A (p.Val424Met) rs1696609331
NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys) rs2105371442
NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) rs886041005
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) rs886054744
NM_022336.4(EDAR):c.141C>G (p.Cys47Trp) rs1697337524
NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)
NM_022336.4(EDAR):c.155C>T (p.Pro52Leu)
NM_022336.4(EDAR):c.166C>T (p.Pro56Ser) rs1553448523
NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)
NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)
NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) rs752810615
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) rs1574385383
NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) rs1697188444
NM_022336.4(EDAR):c.397A>C (p.Met133Leu)
NM_022336.4(EDAR):c.442+5del
NM_022336.4(EDAR):c.575T>G (p.Met192Arg) rs1696920527
NM_022336.4(EDAR):c.731-20A>G
NM_022336.4(EDAR):c.803+4T>G rs777577152
NM_022336.4(EDAR):c.826A>G (p.Asn276Asp) rs2105394216
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) rs145796324
NM_022336.4(EDAR):c.857G>C (p.Ser286Thr)
NM_022336.4(EDAR):c.893C>G (p.Pro298Arg)
NM_022336.4(EDAR):c.911C>T (p.Ser304Leu)
NM_022336.4(EDAR):c.93C>G (p.Cys31Trp)
NM_022336.4(EDAR):c.94G>A (p.Gly32Ser) rs201793571
NM_022336.4(EDAR):c.961G>A (p.Gly321Arg)
NM_022464.5(SIL1):c.*105C>T
NM_022464.5(SIL1):c.*265C>G
NM_022464.5(SIL1):c.*30C>T
NM_022464.5(SIL1):c.*349T>C
NM_022464.5(SIL1):c.*68del
NM_022464.5(SIL1):c.*80G>C
NM_022464.5(SIL1):c.-10-18951A>G
NM_022464.5(SIL1):c.-106G>C
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.-29C>G
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
NM_022464.5(SIL1):c.1030-18G>A
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.1A>G (p.Met1Val) rs573588795
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.354-3C>A
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
NM_022464.5(SIL1):c.988G>A (p.Val330Met)
NM_022482.5(GZF1):c.1234T>A (p.Cys412Ser) rs1981249178
NM_022482.5(GZF1):c.1627+9G>A rs755464836
NM_022482.5(GZF1):c.224C>G (p.Thr75Ser)
NM_022482.5(GZF1):c.979C>G (p.Leu327Val) rs760116028
NM_022772.4(EPS8L2):c.163C>T (p.Gln55Ter)
NM_022772.4(EPS8L2):c.460C>T (p.His154Tyr)
NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser) rs940188070
NM_022773.4(LMF1):c.1039C>G (p.Gln347Glu) rs2069779467
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys)
NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn)
NM_022773.4(LMF1):c.1530-1373C>G
NM_022773.4(LMF1):c.479C>T (p.Ser160Phe)
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)
NM_022773.4(LMF1):c.514+2452G>A
NM_022773.4(LMF1):c.57G>C (p.Lys19Asn)
NM_022773.4(LMF1):c.602C>T (p.Pro201Leu)
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu) rs754772870
NM_022773.4(LMF1):c.683G>T (p.Gly228Val)
NM_022773.4(LMF1):c.718T>C (p.Phe240Leu)
NM_022773.4(LMF1):c.901G>A (p.Val301Ile)
NM_022834.5(VWA1):c.1312C>A (p.Pro438Thr)
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024022.2(TMPRSS3):c.-178A>C rs886057094
NM_024022.2(TMPRSS3):c.-182G>A rs147296608
NM_024022.2(TMPRSS3):c.-198G>A rs56100074
NM_024298.5(MBOAT7):c.1031+17A>G rs1034934225
NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln) rs761899500
NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro) rs2076008543
NM_024298.5(MBOAT7):c.1361_1382del (p.Arg454fs) rs548203729
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro) rs185682596
NM_024298.5(MBOAT7):c.823G>A (p.Gly275Ser) rs756299945
NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala) rs1055465093
NM_024298.5(MBOAT7):c.849C>G (p.Pro283=) rs767593470
NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu) rs2076188195
NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del) rs2146977904
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) rs1173430388
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) rs982005875
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) rs770195088
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) rs2122631661
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.1208del (p.Phe403fs) rs1555739119
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) rs764311774
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) rs1599940206
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) rs1424035060
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) rs1555739321
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) rs2054894857
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) rs1473327480
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) rs1008630400
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) rs755316345
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) rs543163491
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup) rs1555738552
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.777C>T (p.Arg259=) rs766086486
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp) rs1414659732
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) rs2054920081
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) rs756205019
NM_024301.5(FKRP):c.849G>A (p.Arg283=) rs2054920441
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln) rs765885747
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) rs911700598
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678
NM_024417.5(FDXR):c.1454T>C (p.Met485Thr) rs2144639559
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_024417.5(FDXR):c.682C>T (p.Arg228Trp)
NM_024570.4(RNASEH2B):c.*174C>T rs1952055649
NM_024570.4(RNASEH2B):c.*63G>T rs751735556
NM_024570.4(RNASEH2B):c.-107G>A rs886050289
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
NM_024570.4(RNASEH2B):c.137-13T>G
NM_024570.4(RNASEH2B):c.137-4A>C
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu) rs1951648632
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) rs1458407476
NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys) rs1951650677
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg) rs1951651077
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala) rs1328842720
NM_024570.4(RNASEH2B):c.244+6T>C
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val) rs1951668772
NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn) rs1879259645
NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His) rs1879259645
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met) rs2137938188
NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys)
NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)
NM_024570.4(RNASEH2B):c.322-17A>G
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) rs1363440628
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met) rs764980431
NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu) rs764980431
NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys)
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr) rs780398368
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp) rs1951727784
NM_024570.4(RNASEH2B):c.436+6G>C
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn) rs76219783
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.510+3A>G rs1387848478
NM_024570.4(RNASEH2B):c.510+6G>T rs1951858134
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=) rs2137982984
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile) rs902917241
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=) rs768340427
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser) rs1951888592
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu) rs1951889253
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr) rs2137990955
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys) rs745471919
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro) rs2137991056
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu) rs1951889997
NM_024570.4(RNASEH2B):c.616+2dup
NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)
NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) rs1593474848
NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys) rs2138000084
NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His) rs1951926945
NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg) rs200648780
NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln) rs1265842301
NM_024570.4(RNASEH2B):c.64+3A>G
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp) rs977521667
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His) rs77391331
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro) rs768565639
NM_024570.4(RNASEH2B):c.699-11A>G rs886050290
NM_024570.4(RNASEH2B):c.699-9C>G rs2138005108
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu) rs372632599
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe) rs748052389
NM_024570.4(RNASEH2B):c.741+6A>G
NM_024570.4(RNASEH2B):c.742-9A>G rs1952008392
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly) rs1951613237
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs) rs746868812
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro) rs2138027194
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del) rs776706264
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His) rs2138027653
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)
NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs) rs2138027647
NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs) rs1952051723
NM_024580.6(EFL1):c.1492G>A (p.Glu498Lys) rs2074689405
NM_024580.6(EFL1):c.1971C>G (p.His657Gln) rs779232326
NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)
NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr) rs1457781093
NM_024580.6(EFL1):c.3271A>C (p.Met1091Leu)
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024596.5(MCPH1):c.*129C>T rs548238521
NM_024596.5(MCPH1):c.*388G>T rs948143436
NM_024596.5(MCPH1):c.*38C>G rs761964470
NM_024596.5(MCPH1):c.*457C>G rs146726854
NM_024596.5(MCPH1):c.*64T>C rs1798042052
NM_024596.5(MCPH1):c.-39G>A rs768188163
NM_024596.5(MCPH1):c.-41A>C rs769260580
NM_024596.5(MCPH1):c.1026C>T (p.His342=) rs200289785
NM_024596.5(MCPH1):c.114+6A>G rs377320662
NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) rs570511077
NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) rs754200749
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) rs926140350
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) rs200823026
NM_024596.5(MCPH1):c.1616A>G (p.Asp539Gly) rs587783734
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) rs886063058
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) rs1585816128
NM_024596.5(MCPH1):c.1806A>C (p.Leu602Phe) rs34418490
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1935+6T>C
NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile) rs1808650754
NM_024596.5(MCPH1):c.1986C>G (p.Val662=) rs754730567
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) rs373658774
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2257G>C (p.Gly753Arg) rs587783737
NM_024596.5(MCPH1):c.2288T>C (p.Phe763Ser) rs587783738
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) rs7017210
NM_024596.5(MCPH1):c.2429A>G (p.Tyr810Cys) rs35013679
NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys) rs755280764
NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile) rs1586908818
NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)
NM_024596.5(MCPH1):c.433C>G (p.Leu145Val) rs139607465
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.437-15T>C rs886063056
NM_024596.5(MCPH1):c.605A>G (p.His202Arg) rs369302385
NM_024596.5(MCPH1):c.614C>T (p.Pro205Leu) rs587783742
NM_024649.5(BBS1):c.*13_*21dup rs750165500
NM_024649.5(BBS1):c.*474G>A rs146244814
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G rs757289650
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.*776G>A rs1856839016
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T rs754365737
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1020_1021delinsGT (p.Arg341Trp)
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1071T>C (p.Ile357=) rs1856362378
NM_024649.5(BBS1):c.1075C>T (p.Arg359Cys)
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu) rs147766972
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1106C>T (p.Thr369Ile)
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser) rs2134797927
NM_024649.5(BBS1):c.1112A>G (p.Asp371Gly)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>T (p.Arg380Leu)
NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu) rs1856480450
NM_024649.5(BBS1):c.1162C>G (p.Leu388Val)
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del) rs1401696592
NM_024649.5(BBS1):c.1168A>G (p.Met390Val)
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) rs1160669210
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1181-3T>G rs1856511506
NM_024649.5(BBS1):c.1181-9C>G rs769820955
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val) rs2134812092
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr)
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser) rs2134812288
NM_024649.5(BBS1):c.1211G>A (p.Arg404His)
NM_024649.5(BBS1):c.1225G>T (p.Val409Leu)
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) rs1346584719
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln)
NM_024649.5(BBS1):c.1339+13C>G
NM_024649.5(BBS1):c.1339+163G>A
NM_024649.5(BBS1):c.1339+5G>A rs2134813058
NM_024649.5(BBS1):c.1348C>T (p.Arg450Trp)
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) rs745460551
NM_024649.5(BBS1):c.1379G>A (p.Arg460His)
NM_024649.5(BBS1):c.1384C>T (p.Arg462Cys)
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
NM_024649.5(BBS1):c.1385G>T (p.Arg462Leu)
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)
NM_024649.5(BBS1):c.1473+3G>A
NM_024649.5(BBS1):c.1473G>A (p.Val491=) rs1856699471
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) rs1194392195
NM_024649.5(BBS1):c.1497T>C (p.Phe499=)
NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His) rs886044274
NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile)
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
NM_024649.5(BBS1):c.1535G>T (p.Arg512Leu)
NM_024649.5(BBS1):c.1544T>A (p.Leu515Gln)
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro) rs752247232
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)
NM_024649.5(BBS1):c.159+4A>G
NM_024649.5(BBS1):c.1591C>A (p.Pro531Thr)
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala) rs2134837535
NM_024649.5(BBS1):c.1609-7A>G
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) rs778941006
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro) rs2134840970
NM_024649.5(BBS1):c.1660A>C (p.Ser554Arg)
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg) rs2134841179
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu) rs1856791342
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr)
NM_024649.5(BBS1):c.1695+4G>C
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1696-10T>G
NM_024649.5(BBS1):c.1696-1G>A rs1856802024
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly) rs1434577015
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn)
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg) rs1856804554
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) rs769773058
NM_024649.5(BBS1):c.1753C>A (p.Pro585Thr)
NM_024649.5(BBS1):c.1777G>T (p.Ala593Ser)
NM_024649.5(BBS1):c.179G>C (p.Gly60Ala)
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg) rs1856007588
NM_024649.5(BBS1):c.198C>T (p.Pro66=) rs1856007679
NM_024649.5(BBS1):c.223C>A (p.Leu75Met)
NM_024649.5(BBS1):c.227T>A (p.Val76Glu) rs2134771309
NM_024649.5(BBS1):c.230T>C (p.Met77Thr) rs377037816
NM_024649.5(BBS1):c.254T>G (p.Leu85Arg)
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser) rs2134771356
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe) rs2134771383
NM_024649.5(BBS1):c.290A>G (p.His97Arg)
NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe) rs137853913
NM_024649.5(BBS1):c.337T>C (p.Tyr113His) rs2134771484
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys) rs753517084
NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)
NM_024649.5(BBS1):c.374G>A (p.Ser125Asn)
NM_024649.5(BBS1):c.398C>T (p.Pro133Leu)
NM_024649.5(BBS1):c.41C>T (p.Ala14Val)
NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr)
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu) rs1486897768
NM_024649.5(BBS1):c.465G>A (p.Met155Ile)
NM_024649.5(BBS1):c.480-28G>C
NM_024649.5(BBS1):c.480G>T (p.Arg160=)
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys) rs148576114
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly) rs1319438351
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe) rs1026985396
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.586C>T (p.Arg196Trp)
NM_024649.5(BBS1):c.592-20C>G rs778903752
NM_024649.5(BBS1):c.592-7_592-5del rs774944051
NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)
NM_024649.5(BBS1):c.605C>G (p.Thr202Ser)
NM_024649.5(BBS1):c.614C>T (p.Thr205Ile)
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) rs2134780459
NM_024649.5(BBS1):c.650C>T (p.Ser217Phe)
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg) rs1856141438
NM_024649.5(BBS1):c.686T>C (p.Leu229Pro)
NM_024649.5(BBS1):c.718G>T (p.Ala240Ser)
NM_024649.5(BBS1):c.723+14C>G
NM_024649.5(BBS1):c.724-5T>A rs2134784385
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg) rs1180861221
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro) rs2134784436
NM_024649.5(BBS1):c.739G>C (p.Val247Leu)
NM_024649.5(BBS1):c.768G>C (p.Gln256His)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu) rs367686869
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.794C>T (p.Ala265Val)
NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)
NM_024649.5(BBS1):c.830+72A>G rs2134785377
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.831-3C>T
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys) rs1263024783
NM_024649.5(BBS1):c.886A>G (p.Ile296Val)
NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)
NM_024649.5(BBS1):c.907G>C (p.Val303Leu) rs2134795278
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp) rs1280115378
NM_024649.5(BBS1):c.93G>C (p.Met31Ile)
NM_024649.5(BBS1):c.951+1G>C
NM_024649.5(BBS1):c.951+3G>A rs1590766778
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.952-8C>G rs1856353251
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024649.5(BBS1):c.971T>C (p.Val324Ala)
NM_024649.5(BBS1):c.982G>A (p.Ala328Thr)
NM_024649.5(BBS1):c.999G>A (p.Met333Ile) rs1856357942
NM_024649.5(BBS1):c.999G>T (p.Met333Ile) rs1856357942
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024685.4(BBS10):c.*1145A>C rs886049841
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*1275A>C rs886049837
NM_024685.4(BBS10):c.*48G>C rs1951752530
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_024685.4(BBS10):c.*891T>C rs886049844
NM_024685.4(BBS10):c.*930A>G rs886049843
NM_024685.4(BBS10):c.-4A>G rs886049853
NM_024685.4(BBS10):c.1003TCA[1] (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly) rs752630373
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr) rs1951764046
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile) rs779201114
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys) rs1565809819
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser) rs1951763406
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe) rs1951763168
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly) rs2136090562
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) rs1951762690
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
NM_024685.4(BBS10):c.1203A>T (p.Gly401=) rs1951762391
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu) rs1951761840
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu) rs987403283
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe) rs1951778317
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) rs763473990
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala) rs763473990
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
NM_024685.4(BBS10):c.1465G>C (p.Val489Leu) rs1478926935
NM_024685.4(BBS10):c.1472C>A (p.Ser491Tyr) rs886049850
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
NM_024685.4(BBS10):c.1530A>G (p.Thr510=) rs1951758841
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
NM_024685.4(BBS10):c.1566G>T (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1567C>A (p.Leu523Met) rs886049849
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser) rs2136090095
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val) rs1951758028
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His) rs2136090060
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
NM_024685.4(BBS10):c.1696A>C (p.Asn566His) rs144402299
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
NM_024685.4(BBS10):c.1747A>G (p.Met583Val) rs2136089937
NM_024685.4(BBS10):c.1780A>G (p.Met594Val) rs1951756219
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val) rs1264836197
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala) rs1951755940
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys) rs749876979
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1865A>G (p.His622Arg) rs1453149575
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu) rs768385647
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr) rs371540031
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu) rs2136091508
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly) rs12099880
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val) rs113224628
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile) rs777954013
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val) rs777954013
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
NM_024685.4(BBS10):c.197+4C>T rs886049852
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys) rs886049848
NM_024685.4(BBS10):c.1973A>T (p.Tyr658Phe) rs886049848
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr) rs750428156
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn) rs1565809262
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
NM_024685.4(BBS10):c.2146A>C (p.Asn716His) rs1951753000
NM_024685.4(BBS10):c.2157A>G (p.Ser719=) rs1951752945
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val) rs1003705267
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly) rs1216242140
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
NM_024685.4(BBS10):c.326T>C (p.Met109Thr) rs2136091232
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr) rs2136091229
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu) rs1951771611
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala) rs1951771611
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr) rs2136091207
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu) rs769181256
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg) rs573346325
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
NM_024685.4(BBS10):c.524_526del (p.Glu175del) rs2136091044
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.544G>C (p.Val182Leu) rs890996897
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile) rs1239540905
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu) rs1951767969
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del) rs1318745309
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys) rs1396355979
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
NM_024685.4(BBS10):c.681C>G (p.Gly227=) rs886049851
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
NM_024685.4(BBS10):c.708A>G (p.Ile236Met) rs1193290653
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys) rs1242888821
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser) rs1236502453
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
NM_024685.4(BBS10):c.800T>A (p.Leu267His) rs1592492358
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
NM_024685.4(BBS10):c.901C>G (p.Leu301Val) rs1555202666
NM_024685.4(BBS10):c.904C>T (p.His302Tyr) rs954562822
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe) rs2136090757
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu) rs1486182131
NM_024685.4(BBS10):c.930A>G (p.Ile310Met)
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe) rs1951764875
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala) rs2136090741
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys) rs1208975003
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
NM_024685.4(BBS10):c.969A>G (p.Ala323=) rs1951764520
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) rs750665609
NM_024735.5(FBXO31):c.1348G>A (p.Val450Met) rs145589459
NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu) rs1235563636
NM_024735.5(FBXO31):c.638C>A (p.Pro213His) rs1905261526
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.*1117A>G rs189771746
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*681G>A rs545195226
NM_024753.5(TTC21B):c.*926C>A rs1046348644
NM_024753.5(TTC21B):c.1010A>G (p.Gln337Arg)
NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys)
NM_024753.5(TTC21B):c.1048G>A (p.Ala350Thr) rs752711108
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1057C>G (p.Leu353Val)
NM_024753.5(TTC21B):c.1061A>G (p.Asp354Gly) rs902487352
NM_024753.5(TTC21B):c.1067C>T (p.Thr356Ile)
NM_024753.5(TTC21B):c.1083A>G (p.Leu361=)
NM_024753.5(TTC21B):c.1087+3A>G
NM_024753.5(TTC21B):c.1103A>T (p.Gln368Leu)
NM_024753.5(TTC21B):c.1113A>T (p.Glu371Asp)
NM_024753.5(TTC21B):c.1116G>T (p.Gly372=) rs771405314
NM_024753.5(TTC21B):c.1154A>G (p.Asn385Ser)
NM_024753.5(TTC21B):c.1155T>A (p.Asn385Lys) rs2105343770
NM_024753.5(TTC21B):c.1172T>C (p.Ile391Thr)
NM_024753.5(TTC21B):c.1181C>G (p.Ser394Cys) rs748339995
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
NM_024753.5(TTC21B):c.1185+5A>G rs2105343665
NM_024753.5(TTC21B):c.1185G>A (p.Ala395=) rs747042147
NM_024753.5(TTC21B):c.119G>A (p.Arg40Lys)
NM_024753.5(TTC21B):c.119G>C (p.Arg40Thr) rs1687700084
NM_024753.5(TTC21B):c.11A>C (p.Gln4Pro)
NM_024753.5(TTC21B):c.1201C>A (p.His401Asn) rs768881808
NM_024753.5(TTC21B):c.1202A>G (p.His401Arg) rs780159682
NM_024753.5(TTC21B):c.1218G>T (p.Met406Ile)
NM_024753.5(TTC21B):c.1222A>G (p.Lys408Glu) rs2105343236
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1232_1234del (p.Arg411del) rs768933427
NM_024753.5(TTC21B):c.1234C>G (p.Gln412Glu) rs2105343199
NM_024753.5(TTC21B):c.1240G>A (p.Glu414Lys)
NM_024753.5(TTC21B):c.1273A>G (p.Thr425Ala)
NM_024753.5(TTC21B):c.1276C>G (p.His426Asp)
NM_024753.5(TTC21B):c.1292_1294del (p.Glu431del)
NM_024753.5(TTC21B):c.1339T>G (p.Phe447Val)
NM_024753.5(TTC21B):c.1358T>G (p.Met453Arg)
NM_024753.5(TTC21B):c.1396C>T (p.Pro466Ser) rs956461172
NM_024753.5(TTC21B):c.1415C>T (p.Pro472Leu)
NM_024753.5(TTC21B):c.1432A>G (p.Ile478Val) rs948455096
NM_024753.5(TTC21B):c.1438G>A (p.Val480Ile)
NM_024753.5(TTC21B):c.1443G>A (p.Leu481=)
NM_024753.5(TTC21B):c.1490T>C (p.Leu497Pro)
NM_024753.5(TTC21B):c.1512G>T (p.Leu504Phe)
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr) rs769248659
NM_024753.5(TTC21B):c.1537A>G (p.Asn513Asp) rs939423391
NM_024753.5(TTC21B):c.1561C>T (p.His521Tyr)
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1598C>A (p.Ala533Asp)
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) rs200916824
NM_024753.5(TTC21B):c.1621A>G (p.Lys541Glu) rs2105329308
NM_024753.5(TTC21B):c.1654T>C (p.Cys552Arg)
NM_024753.5(TTC21B):c.1674G>A (p.Lys558=)
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val) rs1559058045
NM_024753.5(TTC21B):c.1714T>C (p.Ser572Pro) rs2105327024
NM_024753.5(TTC21B):c.1739C>T (p.Ala580Val)
NM_024753.5(TTC21B):c.1744G>A (p.Ala582Thr) rs755056642
NM_024753.5(TTC21B):c.1756C>A (p.Leu586Met) rs1686216272
NM_024753.5(TTC21B):c.1774T>G (p.Leu592Val)
NM_024753.5(TTC21B):c.1785G>T (p.Met595Ile)
NM_024753.5(TTC21B):c.1790G>T (p.Arg597Ile)
NM_024753.5(TTC21B):c.1801T>C (p.Ser601Pro) rs1686214416
NM_024753.5(TTC21B):c.1807A>G (p.Lys603Glu)
NM_024753.5(TTC21B):c.1816G>A (p.Asp606Asn)
NM_024753.5(TTC21B):c.1832T>C (p.Val611Ala)
NM_024753.5(TTC21B):c.1836T>A (p.Asp612Glu)
NM_024753.5(TTC21B):c.187A>G (p.Ile63Val)
NM_024753.5(TTC21B):c.1883G>T (p.Arg628Leu)
NM_024753.5(TTC21B):c.1906G>A (p.Ala636Thr)
NM_024753.5(TTC21B):c.1927G>A (p.Ala643Thr)
NM_024753.5(TTC21B):c.1937A>T (p.Glu646Val) rs1376184705
NM_024753.5(TTC21B):c.1960G>A (p.Val654Met)
NM_024753.5(TTC21B):c.1972A>G (p.Ile658Val)
NM_024753.5(TTC21B):c.1972A>T (p.Ile658Phe) rs2105324307
NM_024753.5(TTC21B):c.2005G>C (p.Asp669His) rs1406594364
NM_024753.5(TTC21B):c.2009T>C (p.Ile670Thr) rs778504663
NM_024753.5(TTC21B):c.2011G>C (p.Glu671Gln)
NM_024753.5(TTC21B):c.2015G>C (p.Arg672Pro) rs756604135
NM_024753.5(TTC21B):c.2026A>G (p.Ile676Val) rs2105324144
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr) rs1242719645
NM_024753.5(TTC21B):c.2047G>A (p.Glu683Lys)
NM_024753.5(TTC21B):c.205G>A (p.Val69Ile)
NM_024753.5(TTC21B):c.2074G>C (p.Glu692Gln) rs1686122784
NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val) rs1686122209
NM_024753.5(TTC21B):c.2095C>G (p.Leu699Val) rs200182771
NM_024753.5(TTC21B):c.21+5_21+6insGGTGAGTG
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
NM_024753.5(TTC21B):c.2117T>G (p.Met706Arg) rs2105323931
NM_024753.5(TTC21B):c.2118G>A (p.Met706Ile)
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
NM_024753.5(TTC21B):c.2138+5G>C rs1574099823
NM_024753.5(TTC21B):c.2156T>C (p.Met719Thr) rs2105321275
NM_024753.5(TTC21B):c.2179C>T (p.Leu727Phe) rs1214420591
NM_024753.5(TTC21B):c.2180T>C (p.Leu727Pro)
NM_024753.5(TTC21B):c.2197A>G (p.Met733Val)
NM_024753.5(TTC21B):c.2211G>A (p.Glu737=)
NM_024753.5(TTC21B):c.2233T>G (p.Tyr745Asp)
NM_024753.5(TTC21B):c.223C>T (p.Leu75Phe)
NM_024753.5(TTC21B):c.2251C>G (p.Gln751Glu)
NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr)
NM_024753.5(TTC21B):c.2288G>A (p.Gly763Asp)
NM_024753.5(TTC21B):c.2309A>G (p.His770Arg)
NM_024753.5(TTC21B):c.2323-18G>A
NM_024753.5(TTC21B):c.2357G>T (p.Gly786Val)
NM_024753.5(TTC21B):c.2360A>C (p.Gln787Pro)
NM_024753.5(TTC21B):c.2368T>C (p.Tyr790His) rs910370044
NM_024753.5(TTC21B):c.2393_2394delinsAA (p.Leu798Gln) rs2105318301
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2414A>G (p.Tyr805Cys)
NM_024753.5(TTC21B):c.242A>C (p.His81Pro) rs1687690052
NM_024753.5(TTC21B):c.242A>G (p.His81Arg)
NM_024753.5(TTC21B):c.244A>C (p.Lys82Gln) rs774744374
NM_024753.5(TTC21B):c.2471T>G (p.Leu824Arg)
NM_024753.5(TTC21B):c.2479C>G (p.Leu827Val)
NM_024753.5(TTC21B):c.2491G>A (p.Gly831Arg)
NM_024753.5(TTC21B):c.2497T>C (p.Cys833Arg) rs1685788738
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2564A>G (p.Gln855Arg) rs2105313560
NM_024753.5(TTC21B):c.2568+6C>G rs2105313543
NM_024753.5(TTC21B):c.2575G>A (p.Glu859Lys) rs2105306427
NM_024753.5(TTC21B):c.258T>G (p.Asn86Lys) rs2105370137
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
NM_024753.5(TTC21B):c.259C>G (p.Pro87Ala)
NM_024753.5(TTC21B):c.262+4T>C
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2627T>A (p.Val876Asp)
NM_024753.5(TTC21B):c.262G>C (p.Asp88His)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr)
NM_024753.5(TTC21B):c.2683G>C (p.Val895Leu)
NM_024753.5(TTC21B):c.2686G>T (p.Ala896Ser)
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val) rs768486051
NM_024753.5(TTC21B):c.2698T>C (p.Tyr900His) rs1336338964
NM_024753.5(TTC21B):c.2710A>G (p.Ile904Val)
NM_024753.5(TTC21B):c.2720A>G (p.Tyr907Cys)
NM_024753.5(TTC21B):c.2734G>A (p.Val912Ile) rs756613993
NM_024753.5(TTC21B):c.2745_2750del (p.Glu915_Thr916del) rs2105306008
NM_024753.5(TTC21B):c.2747C>G (p.Thr916Arg) rs781416133
NM_024753.5(TTC21B):c.2760T>G (p.Ile920Met)
NM_024753.5(TTC21B):c.2777G>C (p.Arg926Pro) rs747246700
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) rs757389950
NM_024753.5(TTC21B):c.2788G>A (p.Ala930Thr) rs1685493323
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=) rs2105303218
NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met) rs1685490402
NM_024753.5(TTC21B):c.2854G>A (p.Glu952Lys)
NM_024753.5(TTC21B):c.2864C>T (p.Thr955Ile) rs1443929851
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2886G>T (p.Met962Ile)
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.2920C>G (p.His974Asp) rs1254330391
NM_024753.5(TTC21B):c.2921A>G (p.His974Arg) rs1311327616
NM_024753.5(TTC21B):c.2959A>G (p.Met987Val) rs889749746
NM_024753.5(TTC21B):c.2962A>G (p.Thr988Ala)
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val) rs1685169149
NM_024753.5(TTC21B):c.2990G>A (p.Arg997Lys) rs2105292122
NM_024753.5(TTC21B):c.2993G>T (p.Arg998Ile) rs189561071
NM_024753.5(TTC21B):c.2994A>G (p.Arg998=) rs2105292113
NM_024753.5(TTC21B):c.2995T>C (p.Cys999Arg)
NM_024753.5(TTC21B):c.2996G>T (p.Cys999Phe)
NM_024753.5(TTC21B):c.2999G>A (p.Gly1000Glu)
NM_024753.5(TTC21B):c.3007G>A (p.Glu1003Lys)
NM_024753.5(TTC21B):c.3011A>T (p.Asp1004Val)
NM_024753.5(TTC21B):c.3016C>G (p.Pro1006Ala)
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
NM_024753.5(TTC21B):c.3038A>C (p.Glu1013Ala)
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) rs755454992
NM_024753.5(TTC21B):c.3048C>G (p.Asn1016Lys) rs1685165771
NM_024753.5(TTC21B):c.3077A>G (p.Gln1026Arg) rs753645075
NM_024753.5(TTC21B):c.3101+4A>G rs2105291943
NM_024753.5(TTC21B):c.3119A>G (p.Asn1040Ser) rs2105291721
NM_024753.5(TTC21B):c.3121G>A (p.Asp1041Asn) rs2105291718
NM_024753.5(TTC21B):c.3142A>G (p.Lys1048Glu)
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3160G>A (p.Asp1054Asn)
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
NM_024753.5(TTC21B):c.3185A>C (p.Asn1062Thr) rs1477708117
NM_024753.5(TTC21B):c.3191T>C (p.Ile1064Thr)
NM_024753.5(TTC21B):c.3195G>T (p.Glu1065Asp) rs1574070858
NM_024753.5(TTC21B):c.3217G>A (p.Glu1073Lys)
NM_024753.5(TTC21B):c.3338C>T (p.Pro1113Leu)
NM_024753.5(TTC21B):c.3344C>A (p.Thr1115Asn) rs1307274284
NM_024753.5(TTC21B):c.3350A>T (p.Gln1117Leu) rs148631747
NM_024753.5(TTC21B):c.3368G>A (p.Arg1123His)
NM_024753.5(TTC21B):c.3370A>G (p.Ile1124Val)
NM_024753.5(TTC21B):c.3448G>A (p.Ala1150Thr)
NM_024753.5(TTC21B):c.3448GCA[1] (p.Ala1151del)
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
NM_024753.5(TTC21B):c.3459+5G>T rs1380985852
NM_024753.5(TTC21B):c.3460-5del
NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr)
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
NM_024753.5(TTC21B):c.3475G>A (p.Ala1159Thr) rs2105284735
NM_024753.5(TTC21B):c.347T>C (p.Leu116Ser)
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
NM_024753.5(TTC21B):c.3488T>A (p.Met1163Lys)
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr) rs374018043
NM_024753.5(TTC21B):c.3505A>T (p.Ile1169Phe)
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3523C>G (p.Arg1175Gly)
NM_024753.5(TTC21B):c.3536A>G (p.Gln1179Arg) rs745900529
NM_024753.5(TTC21B):c.3539T>C (p.Leu1180Pro)
NM_024753.5(TTC21B):c.3551C>G (p.Ala1184Gly)
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln)
NM_024753.5(TTC21B):c.3614A>G (p.Asp1205Gly) rs2105284491
NM_024753.5(TTC21B):c.3644T>C (p.Met1215Thr)
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
NM_024753.5(TTC21B):c.368G>T (p.Arg123Leu) rs370484375
NM_024753.5(TTC21B):c.3697G>C (p.Ala1233Pro)
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024753.5(TTC21B):c.3723G>A (p.Met1241Ile) rs2105281084
NM_024753.5(TTC21B):c.3740A>G (p.Tyr1247Cys)
NM_024753.5(TTC21B):c.3742A>T (p.Thr1248Ser) rs1684808847
NM_024753.5(TTC21B):c.3767T>C (p.Met1256Thr) rs2105281020
NM_024753.5(TTC21B):c.3770C>A (p.Ala1257Glu)
NM_024753.5(TTC21B):c.3782G>A (p.Ser1261Asn) rs371730439
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3802G>A (p.Val1268Ile)
NM_024753.5(TTC21B):c.3806-18T>C
NM_024753.5(TTC21B):c.3809A>G (p.Tyr1270Cys)
NM_024753.5(TTC21B):c.3843A>G (p.Arg1281=)
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
NM_024753.5(TTC21B):c.389A>C (p.Tyr130Ser)
NM_024753.5(TTC21B):c.3914A>T (p.Asp1305Val) rs147540469
NM_024753.5(TTC21B):c.3932G>T (p.Arg1311Leu) rs139327086
NM_024753.5(TTC21B):c.3935C>T (p.Ala1312Val)
NM_024753.5(TTC21B):c.3947C>T (p.Pro1316Leu) rs2105274076
NM_024753.5(TTC21B):c.407A>G (p.Lys136Arg)
NM_024753.5(TTC21B):c.40T>C (p.Cys14Arg)
NM_024753.5(TTC21B):c.40T>G (p.Cys14Gly) rs780354129
NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr)
NM_024753.5(TTC21B):c.411A>G (p.Ile137Met)
NM_024753.5(TTC21B):c.422G>A (p.Ser141Asn)
NM_024753.5(TTC21B):c.429+5C>T
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) rs373074238
NM_024753.5(TTC21B):c.455A>G (p.Asp152Gly) rs145726127
NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu)
NM_024753.5(TTC21B):c.497A>G (p.Lys166Arg)
NM_024753.5(TTC21B):c.49A>G (p.Arg17Gly)
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
NM_024753.5(TTC21B):c.533C>G (p.Thr178Ser)
NM_024753.5(TTC21B):c.571C>T (p.Arg191Cys)
NM_024753.5(TTC21B):c.584C>T (p.Ser195Leu) rs2105360604
NM_024753.5(TTC21B):c.58C>T (p.His20Tyr) rs938432348
NM_024753.5(TTC21B):c.598A>G (p.Thr200Ala) rs1387736357
NM_024753.5(TTC21B):c.61C>A (p.His21Asn)
NM_024753.5(TTC21B):c.629G>A (p.Ser210Asn) rs937191572
NM_024753.5(TTC21B):c.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn) rs769003862
NM_024753.5(TTC21B):c.737T>C (p.Val246Ala)
NM_024753.5(TTC21B):c.755A>G (p.Gln252Arg)
NM_024753.5(TTC21B):c.766T>G (p.Tyr256Asp)
NM_024753.5(TTC21B):c.770T>C (p.Val257Ala)
NM_024753.5(TTC21B):c.776G>C (p.Arg259Thr) rs1347669823
NM_024753.5(TTC21B):c.779A>T (p.Glu260Val)
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.797C>T (p.Ala266Val) rs562559211
NM_024753.5(TTC21B):c.820G>C (p.Gly274Arg) rs2105347173
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.887G>A (p.Ser296Asn)
NM_024753.5(TTC21B):c.895-3T>C
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.902G>A (p.Arg301His)
NM_024753.5(TTC21B):c.914TTC[1] (p.Leu306del)
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met)
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys)
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu) rs201527519
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)
NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg) rs747024084
NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)
NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)
NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)
NM_024989.4(PGAP1):c.1220+3A>G rs2125812472
NM_024989.4(PGAP1):c.1230G>T (p.Gly410=) rs2125812117
NM_024989.4(PGAP1):c.124A>G (p.Met42Val) rs772948939
NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)
NM_024989.4(PGAP1):c.1350+4_1350+5insAAA rs759795498
NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)
NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)
NM_024989.4(PGAP1):c.1447G>A (p.Val483Met) rs1329688368
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu) rs1329688368
NM_024989.4(PGAP1):c.147+5G>C
NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)
NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)
NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
NM_024989.4(PGAP1):c.1729-16_1729-13del
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala) rs1334582239
NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)
NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)
NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)
NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr) rs2125778704
NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)
NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro) rs1700574769
NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)
NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)
NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)
NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)
NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)
NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys) rs760816428
NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)
NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)
NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)
NM_024989.4(PGAP1):c.2525+4C>T
NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)
NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr) rs2125775207
NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs) rs1700449009
NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser) rs1559326086
NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)
NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
NM_024989.4(PGAP1):c.301+5G>A
NM_024989.4(PGAP1):c.31C>G (p.Leu11Val) rs375123215
NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) rs1457240197
NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser) rs1703369332
NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
NM_024989.4(PGAP1):c.442C>T (p.His148Tyr) rs1364134988
NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
NM_024989.4(PGAP1):c.807+5T>C
NM_024989.4(PGAP1):c.808-7_808-3del rs570708925
NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr) rs1385705047
NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
NM_024989.4(PGAP1):c.911A>T (p.Asp304Val) rs1323722383
NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)
NM_025009.5(CEP135):c.1824A>C (p.Lys608Asn)
NM_025009.5(CEP135):c.231A>C (p.Arg77Ser) rs1728412496
NM_025074.7(FRAS1):c.*1210G>A rs886059651
NM_025074.7(FRAS1):c.*122C>T rs886059648
NM_025074.7(FRAS1):c.*1616C>T rs1722098731
NM_025074.7(FRAS1):c.*1669A>C rs886059653
NM_025074.7(FRAS1):c.*221G>A rs748263373
NM_025074.7(FRAS1):c.*2350C>T rs886059655
NM_025074.7(FRAS1):c.*455C>T rs774956318
NM_025074.7(FRAS1):c.*530G>A rs544866402
NM_025074.7(FRAS1):c.*893C>G rs563929109
NM_025074.7(FRAS1):c.*897T>G rs1722072306
NM_025074.7(FRAS1):c.*985G>A rs1722075087
NM_025074.7(FRAS1):c.-188C>T rs886059624
NM_025074.7(FRAS1):c.-422C>G rs886059622
NM_025074.7(FRAS1):c.10014-14del rs779194826
NM_025074.7(FRAS1):c.10140T>A (p.Asn3380Lys) rs753588022
NM_025074.7(FRAS1):c.10174+1G>A rs1560420794
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) rs377102088
NM_025074.7(FRAS1):c.10442C>T (p.Ser3481Phe) rs886059640
NM_025074.7(FRAS1):c.10648+13C>A rs886059641
NM_025074.7(FRAS1):c.10648+24_10648+25del rs397994139
NM_025074.7(FRAS1):c.10689A>T (p.Lys3563Asn) rs886059643
NM_025074.7(FRAS1):c.10743A>G (p.Leu3581=) rs886059644
NM_025074.7(FRAS1):c.10809-11C>T rs1721539751
NM_025074.7(FRAS1):c.10809-12G>T rs886059645
NM_025074.7(FRAS1):c.1087A>G (p.Ser363Gly) rs1404338156
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro) rs1399050730
NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn) rs2110114875
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln) rs141843124
NM_025074.7(FRAS1):c.11237A>C (p.Glu3746Ala) rs1721910256
NM_025074.7(FRAS1):c.11475G>C (p.Gln3825His) rs1722015455
NM_025074.7(FRAS1):c.11510G>C (p.Gly3837Ala) rs1722017063
NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=) rs763508870
NM_025074.7(FRAS1):c.1186T>C (p.Cys396Arg) rs138103912
NM_025074.7(FRAS1):c.1371T>C (p.Gly457=) rs746772122
NM_025074.7(FRAS1):c.1598A>T (p.Asp533Val) rs886059629
NM_025074.7(FRAS1):c.1650C>A (p.Gly550=) rs1728870513
NM_025074.7(FRAS1):c.1682G>A (p.Cys561Tyr)
NM_025074.7(FRAS1):c.1722G>T (p.Arg574Ser) rs886059630
NM_025074.7(FRAS1):c.1766G>A (p.Cys589Tyr) rs1729214191
NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly) rs1729217009
NM_025074.7(FRAS1):c.1820-11C>T rs117925872
NM_025074.7(FRAS1):c.1848T>C (p.Ser616=) rs878902352
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr) rs199542867
NM_025074.7(FRAS1):c.1885C>G (p.Pro629Ala) rs765144262
NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr) rs369605412
NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro) rs369605412
NM_025074.7(FRAS1):c.2375C>A (p.Thr792Asn) rs1037965937
NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=)
NM_025074.7(FRAS1):c.2818G>C (p.Glu940Gln) rs573458782
NM_025074.7(FRAS1):c.2827G>A (p.Ala943Thr)
NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val) rs1704836684
NM_025074.7(FRAS1):c.2934T>G (p.Asp978Glu) rs1466526912
NM_025074.7(FRAS1):c.2935G>T (p.Gly979Cys) rs538621809
NM_025074.7(FRAS1):c.3128A>G (p.Asp1043Gly) rs886059632
NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys) rs375063448
NM_025074.7(FRAS1):c.3286T>C (p.Cys1096Arg) rs765732994
NM_025074.7(FRAS1):c.3569G>T (p.Gly1190Val) rs772679809
NM_025074.7(FRAS1):c.3648+12G>A rs764016097
NM_025074.7(FRAS1):c.3824C>G (p.Pro1275Arg) rs1732266097
NM_025074.7(FRAS1):c.3873T>C (p.Tyr1291=) rs1732268531
NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=)
NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=)
NM_025074.7(FRAS1):c.4009A>G (p.Met1337Val) rs765572525
NM_025074.7(FRAS1):c.4019T>C (p.Val1340Ala) rs1578299894
NM_025074.7(FRAS1):c.4540+752A>G
NM_025074.7(FRAS1):c.4556G>A (p.Arg1519Gln) rs751175883
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) rs770386832
NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser)
NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys)
NM_025074.7(FRAS1):c.5034T>C (p.Ser1678=) rs1329723132
NM_025074.7(FRAS1):c.5069A>G (p.Asp1690Gly)
NM_025074.7(FRAS1):c.5205C>A (p.His1735Gln) rs533608491
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg) rs200477457
NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val)
NM_025074.7(FRAS1):c.5670T>C (p.Asp1890=) rs1718788319
NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile)
NM_025074.7(FRAS1):c.585G>T (p.Gln195His) rs930940115
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn) rs200547348
NM_025074.7(FRAS1):c.5865C>T (p.Asn1955=) rs201750748
NM_025074.7(FRAS1):c.604-11T>A rs886059626
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln) rs1718978389
NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr)
NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=) rs886059633
NM_025074.7(FRAS1):c.7219A>T (p.Thr2407Ser) rs886059634
NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)
NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=) rs759674249
NM_025074.7(FRAS1):c.76+5G>A rs886059625
NM_025074.7(FRAS1):c.763G>A (p.Ala255Thr) rs886059627
NM_025074.7(FRAS1):c.77-9T>C rs1740016134
NM_025074.7(FRAS1):c.8002A>G (p.Asn2668Asp) rs760944447
NM_025074.7(FRAS1):c.826G>A (p.Glu276Lys) rs886059628
NM_025074.7(FRAS1):c.8329T>C (p.Ser2777Pro) rs773401610
NM_025074.7(FRAS1):c.8440G>T (p.Ala2814Ser) rs559602357
NM_025074.7(FRAS1):c.8441C>T (p.Ala2814Val) rs886059636
NM_025074.7(FRAS1):c.8444-15T>C rs373332959
NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys)
NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys)
NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val)
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920
NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala)
NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu)
NM_025074.7(FRAS1):c.9111A>G (p.Glu3037=) rs1720523467
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) rs754878371
NM_025074.7(FRAS1):c.9478A>G (p.Ser3160Gly) rs763114326
NM_025074.7(FRAS1):c.9602C>T (p.Pro3201Leu) rs886059638
NM_025074.7(FRAS1):c.9621del (p.Arg3208fs) rs1560418388
NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser)
NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg)
NM_025077.4(TOE1):c.-37T>C rs759654665
NM_025077.4(TOE1):c.-38G>A rs774530388
NM_025077.4(TOE1):c.-38G>T
NM_025077.4(TOE1):c.-38dup rs1557517901
NM_025077.4(TOE1):c.-39C>A rs876658588
NM_025077.4(TOE1):c.-39C>G
NM_025077.4(TOE1):c.-40G>A
NM_025077.4(TOE1):c.-40G>C rs1553136962
NM_025077.4(TOE1):c.-54G>T rs540793556
NM_025077.4(TOE1):c.1A>C (p.Met1Leu) rs865954220
NM_025077.4(TOE1):c.1A>T (p.Met1Leu) rs865954220
NM_025077.4(TOE1):c.2T>C (p.Met1Thr) rs1646823787
NM_025077.4(TOE1):c.2T>G (p.Met1Arg) rs1646823787
NM_025077.4(TOE1):c.4G>C (p.Ala2Pro) rs781609463
NM_025077.4(TOE1):c.52+50G>T rs533908646
NM_025103.4(IFT74):c.1343G>A (p.Arg448His)
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.-118C>G rs886049887
NM_025114.4(CEP290):c.-208C>T rs551070690
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg) rs2138022289
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr) rs1415965131
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu) rs2138003595
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu) rs2039663676
NM_025114.4(CEP290):c.1111G>A (p.Val371Ile) rs2138002338
NM_025114.4(CEP290):c.1117C>A (p.Gln373Lys)
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser) rs1295338042
NM_025114.4(CEP290):c.1166A>T (p.Lys389Ile) rs2138000943
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly)
NM_025114.4(CEP290):c.1190-8C>G rs764602507
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala)
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1205C>G (p.Ser402Cys) rs2137920983
NM_025114.4(CEP290):c.1217_1218delinsTC (p.His406Leu) rs2137920625
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg)
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn)
NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp)
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val) rs2039369004
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn)
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys)
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly) rs2039366661
NM_025114.4(CEP290):c.1313A>G (p.Asp438Gly) rs2137917175
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp)
NM_025114.4(CEP290):c.1333C>G (p.Leu445Val) rs2039364974
NM_025114.4(CEP290):c.1349A>G (p.Asp450Gly) rs777867610
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu) rs772635605
NM_025114.4(CEP290):c.1359+2dup
NM_025114.4(CEP290):c.135A>C (p.Gln45His) rs2138298764
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu)
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu)
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr)
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
NM_025114.4(CEP290):c.147A>G (p.Ile49Met)
NM_025114.4(CEP290):c.1493A>T (p.Asp498Val) rs2039315374
NM_025114.4(CEP290):c.149A>G (p.His50Arg) rs2138298302
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr) rs1035966537
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg) rs761301690
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys) rs368427967
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.1522+8A>G rs1410927153
NM_025114.4(CEP290):c.1523G>A (p.Gly508Asp) rs2039227577
NM_025114.4(CEP290):c.1564A>C (p.Asn522His)
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser) rs751732097
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg) rs1390141039
NM_025114.4(CEP290):c.1590G>C (p.Gln530His) rs766779533
NM_025114.4(CEP290):c.1596A>C (p.Arg532Ser) rs770310236
NM_025114.4(CEP290):c.1597G>T (p.Ala533Ser)
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys)
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val) rs2137873551
NM_025114.4(CEP290):c.1623+10G>A rs377529198
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr) rs1180698614
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln) rs373498346
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp)
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu)
NM_025114.4(CEP290):c.1648C>T (p.Leu550Phe) rs2039207431
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met)
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile)
NM_025114.4(CEP290):c.1672C>G (p.Gln558Glu)
NM_025114.4(CEP290):c.1710A>C (p.Ser570=) rs2137866803
NM_025114.4(CEP290):c.1721C>G (p.Thr574Ser)
NM_025114.4(CEP290):c.1741G>A (p.Glu581Lys) rs2039101381
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu)
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser) rs371496675
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe) rs1283118657
NM_025114.4(CEP290):c.180+11A>G rs2138296866
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
NM_025114.4(CEP290):c.1862G>C (p.Arg621Thr)
NM_025114.4(CEP290):c.188C>T (p.Ala63Val) rs769705891
NM_025114.4(CEP290):c.1908A>G (p.Lys636=)
NM_025114.4(CEP290):c.191AAG[1] (p.Glu65del) rs1312256490
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.4(CEP290):c.1926A>T (p.Glu642Asp)
NM_025114.4(CEP290):c.1970C>A (p.Ala657Glu) rs2038920051
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val) rs2038919900
NM_025114.4(CEP290):c.1982T>G (p.Met661Arg) rs2137781691
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu)
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile) rs2038915965
NM_025114.4(CEP290):c.2053-22A>G
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr) rs2038714969
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met)
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val) rs200454865
NM_025114.4(CEP290):c.2092A>C (p.Ser698Arg)
NM_025114.4(CEP290):c.2099A>G (p.His700Arg)
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr)
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val) rs1592608053
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val)
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr) rs2137721924
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe)
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2217+3G>A rs765291878
NM_025114.4(CEP290):c.2217+3G>C rs765291878
NM_025114.4(CEP290):c.2217+5G>T
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu) rs754736974
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe)
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln) rs1360220092
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly) rs2038671061
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr)
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr) rs2137709342
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.231A>G (p.Gly77=) rs753852812
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly)
NM_025114.4(CEP290):c.2326A>G (p.Ile776Val) rs2038667289
NM_025114.4(CEP290):c.2332_2334del (p.Asn778del) rs2038666741
NM_025114.4(CEP290):c.2365C>A (p.Gln789Lys) rs2137707386
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del) rs2038499476
NM_025114.4(CEP290):c.2400T>G (p.Asn800Lys) rs2038497441
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
NM_025114.4(CEP290):c.2435T>A (p.Phe812Tyr) rs2038494496
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro) rs768448895
NM_025114.4(CEP290):c.2447G>T (p.Arg816Leu) rs768448895
NM_025114.4(CEP290):c.2450A>G (p.His817Arg) rs1251392498
NM_025114.4(CEP290):c.2451T>A (p.His817Gln) rs2038492778
NM_025114.4(CEP290):c.2455C>A (p.Gln819Lys) rs2137662565
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn)
NM_025114.4(CEP290):c.2468A>G (p.Tyr823Cys) rs2137662247
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn)
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys)
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.249T>C (p.Phe83=)
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala) rs1227513489
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu)
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp)
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu) rs2137623175
NM_025114.4(CEP290):c.2545G>C (p.Asp849His) rs1565877637
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val)
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys) rs1004064531
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val) rs2038321746
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe)
NM_025114.4(CEP290):c.2608A>G (p.Met870Val)
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val)
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val)
NM_025114.4(CEP290):c.2623A>G (p.Met875Val)
NM_025114.4(CEP290):c.2646TAG[1] (p.Ser883del)
NM_025114.4(CEP290):c.2670A>C (p.Gln890His) rs2038316964
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile) rs2137616560
NM_025114.4(CEP290):c.2694G>C (p.Arg898Ser) rs2038314186
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser) rs1353471879
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys)
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe) rs375348494
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro)
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro)
NM_025114.4(CEP290):c.2781A>G (p.Glu927=) rs2137612847
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu)
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser) rs770836483
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser)
NM_025114.4(CEP290):c.2821A>G (p.Met941Val) rs2038012227
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2869G>A (p.Val957Ile) rs2038007630
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn)
NM_025114.4(CEP290):c.2911G>A (p.Glu971Lys) rs780805963
NM_025114.4(CEP290):c.291A>T (p.Glu97Asp) rs757402765
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.2929A>G (p.Arg977Gly) rs765840717
NM_025114.4(CEP290):c.2932G>T (p.Asp978Tyr) rs2137541060
NM_025114.4(CEP290):c.2933A>G (p.Asp978Gly) rs758309007
NM_025114.4(CEP290):c.2946A>T (p.Lys982Asn) rs2037999495
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile) rs2037998907
NM_025114.4(CEP290):c.2953A>G (p.Met985Val) rs1160930595
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile) rs2037998320
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser) rs2137539633
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr) rs2137539514
NM_025114.4(CEP290):c.2991+3A>C
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly) rs2037480137
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln) rs2037478393
NM_025114.4(CEP290):c.3014A>G (p.Glu1005Gly)
NM_025114.4(CEP290):c.3019G>A (p.Val1007Met) rs2137425726
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys)
NM_025114.4(CEP290):c.3040C>T (p.Leu1014=) rs2037475960
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg)
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val)
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly) rs2037472723
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys) rs1195864585
NM_025114.4(CEP290):c.3104-5T>A rs1302558061
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp)
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg) rs2037241839
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn)
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn)
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu)
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.4(CEP290):c.3139A>G (p.Ile1047Val) rs2137368973
NM_025114.4(CEP290):c.3148A>C (p.Ser1050Arg) rs1240996430
NM_025114.4(CEP290):c.3152A>T (p.Asp1051Val) rs2037238288
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val) rs771815959
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val) rs1201486566
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp)
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln) rs1298561837
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu)
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys) rs902039539
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala)
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro) rs1049569883
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041
NM_025114.4(CEP290):c.3291G>A (p.Leu1097=) rs2037221962
NM_025114.4(CEP290):c.3304G>A (p.Ala1102Thr)
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro) rs772886007
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=) rs2037149786
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr) rs780796789
NM_025114.4(CEP290):c.3351G>A (p.Met1117Ile) rs2037147645
NM_025114.4(CEP290):c.3352T>G (p.Leu1118Val)
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly)
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
NM_025114.4(CEP290):c.3380G>A (p.Ser1127Asn) rs757526726
NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val)
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys) rs766095901
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser) rs2137341520
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp) rs2137341409
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile) rs2137340972
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu) rs753136596
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr) rs1050202680
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe) rs2036979298
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr)
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly) rs1183095802
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
NM_025114.4(CEP290):c.3518A>C (p.Gln1173Pro) rs2137303851
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg) rs2137303115
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
NM_025114.4(CEP290):c.3542A>G (p.Glu1181Gly) rs1402260550
NM_025114.4(CEP290):c.3545C>A (p.Ser1182Tyr)
NM_025114.4(CEP290):c.3553A>G (p.Met1185Val)
NM_025114.4(CEP290):c.3558A>C (p.Gln1186His) rs1189042096
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg)
NM_025114.4(CEP290):c.3573+5G>A rs974204266
NM_025114.4(CEP290):c.3574-9T>A rs202038547
NM_025114.4(CEP290):c.3581C>T (p.Ser1194Phe) rs2036852568
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.362A>G (p.Glu121Gly) rs2040372439
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr)
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val)
NM_025114.4(CEP290):c.3675A>C (p.Thr1225=) rs2036843900
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe)
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val) rs1282211647
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr)
NM_025114.4(CEP290):c.3704A>G (p.Asn1235Ser) rs1344828907
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg)
NM_025114.4(CEP290):c.3733_3735del (p.Lys1245del) rs2137277006
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe)
NM_025114.4(CEP290):c.3762G>C (p.Leu1254Phe) rs2036834615
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu) rs748429036
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln) rs781101346
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln)
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg)
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly)
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr) rs755112866
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu)
NM_025114.4(CEP290):c.385A>G (p.Arg129Gly) rs2138214415
NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe)
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly)
NM_025114.4(CEP290):c.38T>A (p.Val13Asp)
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.4(CEP290):c.3925C>G (p.Gln1309Glu)
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile)
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys) rs1361449401
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del)
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val) rs959651787
NM_025114.4(CEP290):c.4006A>G (p.Lys1336Glu) rs2036809812
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser)
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg)
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del) rs2036719008
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly) rs1270381017
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn) rs769179397
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
NM_025114.4(CEP290):c.4102G>T (p.Asp1368Tyr) rs184143186
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala)
NM_025114.4(CEP290):c.4175A>T (p.Glu1392Val) rs2137248175
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg)
NM_025114.4(CEP290):c.4194+5T>G
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.4(CEP290):c.4239C>A (p.Asp1413Glu)
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys)
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His)
NM_025114.4(CEP290):c.4286T>A (p.Leu1429Gln) rs2137218717
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser)
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro)
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr) rs375111436
NM_025114.4(CEP290):c.4373G>C (p.Arg1458Thr)
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu)
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala)
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe)
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val) rs2036455482
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His)
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr) rs1266234548
NM_025114.4(CEP290):c.4547A>G (p.Glu1516Gly) rs367941106
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp)
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg) rs759438587
NM_025114.4(CEP290):c.4600A>C (p.Thr1534Pro) rs2036443574
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser) rs2137184439
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr)
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro)
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg)
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val) rs2036441054
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His)
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr) rs2138114070
NM_025114.4(CEP290):c.4651C>A (p.Gln1551Lys)
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn)
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys)
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu)
NM_025114.4(CEP290):c.46G>C (p.Asp16His) rs2040641439
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr)
NM_025114.4(CEP290):c.4704+3A>G
NM_025114.4(CEP290):c.4705G>A (p.Glu1569Lys) rs2137170285
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe)
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu) rs1203769698
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg)
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser) rs1352598713
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys)
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu)
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe)
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg)
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr) rs1413188289
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)
NM_025114.4(CEP290):c.4888G>A (p.Val1630Ile) rs2036315177
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys) rs916470951
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe)
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln) rs763470977
NM_025114.4(CEP290):c.4986A>G (p.Val1662=)
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu)
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly) rs566018288
NM_025114.4(CEP290):c.5012+5G>A
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu)
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His)
NM_025114.4(CEP290):c.5033A>T (p.Asp1678Val) rs1174731379
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys)
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly)
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe)
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys) rs1565827486
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr) rs1209477107
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu) rs2036106218
NM_025114.4(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu) rs1241267572
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp) rs1565827241
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg)
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr) rs2036093152
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val) rs1311947993
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del)
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro)
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg)
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe)
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
NM_025114.4(CEP290):c.530G>T (p.Cys177Phe)
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser) rs527586777
NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn)
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
NM_025114.4(CEP290):c.5364+3G>A
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile) rs2035901966
NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala) rs2137060627
NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val)
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp) rs1351470304
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
NM_025114.4(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.54G>C (p.Leu18=) rs886049885
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro) rs1176131735
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn) rs2137056432
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg) rs2035881706
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_025114.4(CEP290):c.5587-8T>C rs886049878
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
NM_025114.4(CEP290):c.5607T>C (p.Asn1869=) rs777353443
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val) rs1415835597
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg) rs2039990572
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.4(CEP290):c.5742A>C (p.Glu1914Asp) rs2035405223
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser) rs2035398253
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile) rs2035397823
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr) rs1014034003
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly) rs2035394009
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro) rs2136957996
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys) rs779867970
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu) rs2035364656
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu) rs2136956748
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly) rs371525247
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr) rs2035360147
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
NM_025114.4(CEP290):c.5972A>C (p.Lys1991Thr) rs1178644600
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His) rs2136955385
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr) rs1592782496
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=) rs2136913860
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro) rs2136913105
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala) rs2136913105
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del) rs1481875615
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser) rs1283291449
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His)
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser) rs750159998
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu)
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly) rs2136814953
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg)
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg) rs2138095264
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn) rs2136813251
NM_025114.4(CEP290):c.623T>G (p.Leu208Trp) rs2039987503
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val) rs774510171
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=) rs2136812129
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg)
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile) rs753507165
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr) rs1274778299
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del) rs749826807
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser) rs762397066
NM_025114.4(CEP290):c.6358-17_6358-10del
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met) rs1178627897
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn) rs775860198
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile) rs2136751097
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu) rs747203539
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His) rs1308226735
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu)
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile) rs1017249180
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys) rs2136748183
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe) rs1381853150
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro) rs2034340081
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg)
NM_025114.4(CEP290):c.6566G>T (p.Ser2189Ile) rs2034338160
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg) rs368428115
NM_025114.4(CEP290):c.6573C>G (p.His2191Gln) rs1316821873
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
NM_025114.4(CEP290):c.6645+4T>A
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly) rs2136706903
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu) rs2138093804
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser) rs2034240934
NM_025114.4(CEP290):c.6694A>G (p.Ile2232Val) rs2034240720
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp) rs766640788
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val)
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys) rs2136656424
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser) rs2033940025
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg) rs538590274
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu)
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg) rs1337960015
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe)
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys) rs1772781673
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys)
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys)
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu) rs780375623
NM_025114.4(CEP290):c.6960+5_6960+8del rs2033930168
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe) rs1261405954
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn) rs2136637071
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly) rs2138087140
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser)
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=) rs2136636238
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val) rs2033762979
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly) rs2136624871
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu) rs1364454411
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr) rs540340404
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala) rs2138086785
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7T>G rs745813087
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met) rs2136547632
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu) rs2136547201
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met) rs2136546112
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile) rs2033234687
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) rs1345322609
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) rs757255407
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) rs1159836808
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) rs777398895
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs) rs1368325179
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg) rs2033224468
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp) rs2039957080
NM_025114.4(CEP290):c.758_760del (p.Met253del) rs2039956756
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.794A>G (p.His265Arg) rs902444632
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr) rs796540607
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
NM_025114.4(CEP290):c.852A>T (p.Gln284His) rs1592671091
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp) rs2039900054
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.916G>T (p.Val306Phe) rs558949569
NM_025114.4(CEP290):c.92C>T (p.Ser31Phe) rs1378106199
NM_025114.4(CEP290):c.942+6T>G rs886049884
NM_025114.4(CEP290):c.948T>G (p.Ile316Met) rs767967987
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn) rs2138024512
NM_025114.4(CEP290):c.962A>T (p.Asp321Val)
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn) rs536127246
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
NM_025114.4(CEP290):c.984G>C (p.Gln328His) rs776256270
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*124T>G rs1737119800
NM_025132.4(WDR19):c.*184T>G rs886059405
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.*83G>C rs111976533
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)
NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser) rs1729016178
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val) rs1064797308
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile) rs2109326721
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile) rs2109327092
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr) rs2109740507
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)
NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) rs886059397
NM_025132.4(WDR19):c.1304T>G (p.Leu435Arg)
NM_025132.4(WDR19):c.1323T>A (p.Ala441=) rs2109329846
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile) rs1368404511
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro) rs1729154313
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile) rs760418892
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu) rs760418892
NM_025132.4(WDR19):c.1352A>G (p.His451Arg)
NM_025132.4(WDR19):c.1356+4A>G
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser) rs1729252548
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del) rs763535788
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val) rs2109331852
NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg) rs2109349675
NM_025132.4(WDR19):c.1537C>A (p.His513Asn) rs2109349795
NM_025132.4(WDR19):c.1541C>A (p.Pro514His)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser) rs2109357664
NM_025132.4(WDR19):c.171T>C (p.Cys57=) rs1483597668
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)
NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu) rs1469699848
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe) rs1245108212
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu) rs2109358423
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys) rs2109250538
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr) rs2109358802
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile) rs2109358802
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp) rs2109358945
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala) rs2109358967
NM_025132.4(WDR19):c.1954A>G (p.Met652Val)
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu) rs780621466
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) rs1577943470
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val) rs2109366909
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln) rs1730907908
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)
NM_025132.4(WDR19):c.2143-12T>G
NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro) rs2109368181
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val) rs1307951215
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser) rs372232320
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg) rs2109368525
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) rs1730954326
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2302C>A (p.His768Asn) rs2109377406
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu) rs1249345016
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg) rs1731220593
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr) rs200354828
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp) rs780435361
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)
NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val) rs750584650
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)
NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr) rs1168307194
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) rs1375996391
NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile) rs1175997746
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val) rs2109405829
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
NM_025132.4(WDR19):c.2562+19_2562+28del
NM_025132.4(WDR19):c.2562+5T>C
NM_025132.4(WDR19):c.2563-3T>C
NM_025132.4(WDR19):c.2563-6T>C rs1213227553
NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp) rs2109406612
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu) rs2109406828
NM_025132.4(WDR19):c.2633G>A (p.Arg878His)
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro) rs2109406888
NM_025132.4(WDR19):c.2646-16G>A
NM_025132.4(WDR19):c.2646-9C>T
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val) rs1328854619
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe) rs2109410308
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala) rs1732419230
NM_025132.4(WDR19):c.2683_2685del (p.Pro895del)
NM_025132.4(WDR19):c.2684C>A (p.Pro895His) rs774529884
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.270C>T (p.Ser90=) rs1725957452
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)
NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr) rs778487491
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) rs1057523257
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu) rs1171033092
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) rs1733504639
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr) rs1317389016
NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)
NM_025132.4(WDR19):c.2941A>C (p.Asn981His) rs1486655648
NM_025132.4(WDR19):c.2977A>G (p.Met993Val) rs1733514837
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr) rs750227475
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu) rs1381022232
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=) rs1733517192
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp)
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)
NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys) rs759424617
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu) rs1224983700
NM_025132.4(WDR19):c.3114+4A>G
NM_025132.4(WDR19):c.3129C>G (p.Phe1043Leu)
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr) rs1387754769
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys) rs2109452251
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala)
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) rs756862143
NM_025132.4(WDR19):c.3183+3A>G
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)
NM_025132.4(WDR19):c.3230A>G (p.His1077Arg)
NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro) rs2109483428
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val) rs1394317306
NM_025132.4(WDR19):c.3262-8T>C
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu)
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly) rs2109264662
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val) rs1734985961
NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu) rs755327576
NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr) rs915717367
NM_025132.4(WDR19):c.3358+12A>G rs2109490722
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3359-5T>A
NM_025132.4(WDR19):c.3373G>A (p.Ala1125Thr)
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val) rs1735186262
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly) rs2109496811
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg) rs2109496840
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr) rs2109497125
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly) rs2109497278
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys) rs1735198326
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val) rs371474583
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn) rs765379022
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser) rs755139948
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser) rs1277873234
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)
NM_025132.4(WDR19):c.3596T>C (p.Ile1199Thr)
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile) rs2109264782
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) rs886059402
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala)
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly)
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg) rs2109514971
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu) rs573727744
NM_025132.4(WDR19):c.3691A>G (p.Lys1231Glu)
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys) rs2109264795
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.376C>T (p.His126Tyr)
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr) rs1735978246
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met) rs1735983084
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr) rs1438498947
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met) rs1301360733
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)
NM_025132.4(WDR19):c.3913_3917+1dup rs1736099193
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile) rs1736142058
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr) rs1736145510
NM_025132.4(WDR19):c.4006C>G (p.Leu1336Val)
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs) rs2109526590
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4009C>T (p.Arg1337Ter)
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln) rs745506402
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)
NM_025132.4(WDR19):c.522+8A>G
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly) rs1445634325
NM_025132.4(WDR19):c.603+17A>G rs2109296086
NM_025132.4(WDR19):c.604A>G (p.Ile202Val)
NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)
NM_025132.4(WDR19):c.631T>G (p.Leu211Val)
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu) rs1727819329
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro) rs2109740775
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile) rs1727822059
NM_025132.4(WDR19):c.696C>T (p.Gly232=)
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)
NM_025132.4(WDR19):c.7-5T>G rs1725441027
NM_025132.4(WDR19):c.716+4T>A rs2109300292
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser) rs1727857328
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)
NM_025132.4(WDR19):c.750A>T (p.Ser250=) rs886059395
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala) rs2109740825
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser) rs1727870637
NM_025132.4(WDR19):c.812C>T (p.Ala271Val) rs981943939
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.815G>A (p.Arg272His)
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del)
NM_025132.4(WDR19):c.82T>C (p.Tyr28His)
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu) rs1727876160
NM_025132.4(WDR19):c.925A>G (p.Met309Val)
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) rs1577897014
NM_025132.4(WDR19):c.98+5G>T
NM_025132.4(WDR19):c.[291-21A>G];[542C>G]
NM_025216.2(WNT10A):c.-194dup rs886055639
NM_025216.2(WNT10A):c.-202G>C rs886055638
NM_025216.2(WNT10A):c.-249G>C rs571829301
NM_025216.2(WNT10A):c.-358G>A rs886055635
NM_025216.2(WNT10A):c.-370C>A rs886055634
NM_025216.2(WNT10A):c.-433C>G rs886055633
NM_025216.3(WNT10A):c.*139C>G rs1944681589
NM_025216.3(WNT10A):c.*339C>T rs1944683536
NM_025216.3(WNT10A):c.*441C>T rs886055647
NM_025216.3(WNT10A):c.1034T>C (p.Phe345Ser) rs1553623335
NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu) rs1944675395
NM_025216.3(WNT10A):c.1036T>C (p.Cys346Arg)
NM_025216.3(WNT10A):c.1040A>C (p.Glu347Ala)
NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu) rs564146190
NM_025216.3(WNT10A):c.1085G>T (p.Cys362Phe) rs1575235098
NM_025216.3(WNT10A):c.1120_1134dup (p.Gly378_Arg379insSerMetCysCysGly)
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg) rs773598047
NM_025216.3(WNT10A):c.1127G>C (p.Cys376Ser)
NM_025216.3(WNT10A):c.1140_1141insGCGGCC (p.Gly380_His381insAlaAla)
NM_025216.3(WNT10A):c.1154G>A (p.Arg385His)
NM_025216.3(WNT10A):c.1199G>C (p.Cys400Ser) rs1575235227
NM_025216.3(WNT10A):c.1204G>A (p.Val402Met)
NM_025216.3(WNT10A):c.1212C>G (p.Cys404Trp) rs1553623396
NM_025216.3(WNT10A):c.1223G>A (p.Arg408His)
NM_025216.3(WNT10A):c.1247G>C (p.Cys416Ser)
NM_025216.3(WNT10A):c.152C>T (p.Pro51Leu)
NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp) rs992196031
NM_025216.3(WNT10A):c.275C>T (p.Ala92Val) rs1553622317
NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys) rs886055642
NM_025216.3(WNT10A):c.323C>T (p.Ser108Leu) rs2106011706
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe) rs201929547
NM_025216.3(WNT10A):c.38G>C (p.Arg13Pro)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.434T>C (p.Val145Ala)
NM_025216.3(WNT10A):c.483G>C (p.Ala161=) rs200751156
NM_025216.3(WNT10A):c.542C>T (p.Ala181Val)
NM_025216.3(WNT10A):c.554G>A (p.Gly185Asp) rs1458852116
NM_025216.3(WNT10A):c.59C>A (p.Pro20Gln)
NM_025216.3(WNT10A):c.623C>T (p.Ser208Phe) rs756543596
NM_025216.3(WNT10A):c.640T>C (p.Cys214Arg)
NM_025216.3(WNT10A):c.653T>G (p.Met218Arg) rs759559158
NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys) rs377416834
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) rs149245953
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val) rs201578578
NM_025216.3(WNT10A):c.756+13C>A rs745958462
NM_025216.3(WNT10A):c.775C>T (p.Arg259Trp)
NM_025216.3(WNT10A):c.791G>T (p.Cys264Phe) rs1944669118
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser) rs778752861
NM_025216.3(WNT10A):c.801G>A (p.Thr267=) rs553058408
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr) rs541715493
NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala) rs541715493
NM_025216.3(WNT10A):c.914G>T (p.Arg305Leu) rs746769946
NM_025216.3(WNT10A):c.919G>C (p.Gly307Arg)
NM_025216.3(WNT10A):c.958C>T (p.Pro320Ser) rs1944673587
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup) rs1416466883
NM_030805.4(LMAN2L):c.424+11C>T rs2078470068
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) rs1028008100
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) rs2077918865
NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)
NM_030943.4(AMN):c.1056C>A (p.His352Gln) rs773203683
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) rs1034496756
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) rs1428691401
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_031200.3(CCR9):c.40G>T (p.Ala14Ser)
NM_031471.6(FERMT3):c.1029+6G>T
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) rs1946632820
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) rs2134881583
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) rs1946337090
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) rs2134882687
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) rs1946639980
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) rs2134828211
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)
NM_031471.6(FERMT3):c.1205-3C>T
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)
NM_031471.6(FERMT3):c.1311+13_1311+29del
NM_031471.6(FERMT3):c.1311+6T>G
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) rs1946338724
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) rs1203250020
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) rs1400489114
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) rs773617643
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) rs184091587
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) rs1267328953
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) rs1205153436
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe)
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) rs769352433
NM_031471.6(FERMT3):c.164G>A (p.Arg55His)
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) rs1591041141
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) rs754239815
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) rs1946752193
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) rs867920578
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu)
NM_031471.6(FERMT3):c.1790del (p.Asn597fs)
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met)
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) rs2134906064
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) rs1565299599
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) rs2134906387
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) rs368565732
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) rs368565732
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg)
NM_031471.6(FERMT3):c.213G>C (p.Gln71His)
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) rs200509898
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) rs1946416404
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg)
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)
NM_031471.6(FERMT3):c.323G>A (p.Arg108His)
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) rs1946424644
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) rs778799174
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) rs776324976
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn)
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) rs1189533527
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) rs759155629
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) rs2134843975
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) rs2134844071
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)
NM_031471.6(FERMT3):c.514+4A>G rs1591027554
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) rs2134845189
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) rs778967874
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) rs1946432873
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) rs150500299
NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro)
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) rs2134845949
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala)
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) rs369072342
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp)
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) rs542357552
NM_031471.6(FERMT3):c.683+5A>C rs1946435926
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) rs1946443415
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) rs2134847767
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) rs1408986056
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) rs1402606308
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg)
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val)
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys)
NM_031471.6(FERMT3):c.749G>A (p.Arg250His)
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu)
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) rs2134828037
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) rs1359134455
NM_031471.6(FERMT3):c.787-8C>A rs202116077
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) rs1303226802
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) rs568602034
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) rs1294902127
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) rs1030764940
NM_031471.6(FERMT3):c.894+9C>T rs377003245
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) rs566565776
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) rs1177180183
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg)
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) rs1591038431
NM_031475.2(ESPN):c.2339_2341delAGG rs1399633263
NM_031475.3(ESPN):c.2263C>T (p.Arg755Cys)
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.3(BBS2):c.1528_1539del12 rs1555521575
NM_031885.5(BBS2):c.-118C>T rs1042357903
NM_031885.5(BBS2):c.-133C>T rs886052152
NM_031885.5(BBS2):c.-161G>A rs886052155
NM_031885.5(BBS2):c.-22C>T rs528287127
NM_031885.5(BBS2):c.-67C>G rs886052151
NM_031885.5(BBS2):c.1006G>A (p.Asp336Asn)
NM_031885.5(BBS2):c.1033A>C (p.Lys345Gln)
NM_031885.5(BBS2):c.1064A>T (p.Tyr355Phe) rs1477561197
NM_031885.5(BBS2):c.1081-16G>A
NM_031885.5(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
NM_031885.5(BBS2):c.1108G>A (p.Ala370Thr) rs1597015825
NM_031885.5(BBS2):c.1112A>T (p.Asp371Val) rs1366351316
NM_031885.5(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.5(BBS2):c.1121G>A (p.Arg374Gln)
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_031885.5(BBS2):c.113G>A (p.Gly38Asp) rs748872389
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile)
NM_031885.5(BBS2):c.1150C>A (p.His384Asn) rs2144145489
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile) rs1169691619
NM_031885.5(BBS2):c.117+6C>G
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.118-6T>A rs2144193881
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1193C>G (p.Ala398Gly)
NM_031885.5(BBS2):c.119T>G (p.Val40Gly) rs1964683448
NM_031885.5(BBS2):c.1208G>A (p.Arg403His)
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro) rs192007013
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) rs192007013
NM_031885.5(BBS2):c.1225+6A>G rs2144145043
NM_031885.5(BBS2):c.1264A>G (p.Ile422Val) rs1964254046
NM_031885.5(BBS2):c.1307A>G (p.Asn436Ser) rs1964252649
NM_031885.5(BBS2):c.1309C>G (p.Leu437Val)
NM_031885.5(BBS2):c.1316G>T (p.Ser439Ile)
NM_031885.5(BBS2):c.133C>A (p.Pro45Thr) rs2144193766
NM_031885.5(BBS2):c.1345A>G (p.Lys449Glu) rs1964251202
NM_031885.5(BBS2):c.1392A>C (p.Arg464Ser)
NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG
NM_031885.5(BBS2):c.1397+7C>A rs771297840
NM_031885.5(BBS2):c.1421C>T (p.Ser474Leu)
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1447A>G (p.Met483Val) rs748721721
NM_031885.5(BBS2):c.1448T>C (p.Met483Thr)
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly) rs1964211173
NM_031885.5(BBS2):c.1492T>A (p.Tyr498Asn) rs1261310336
NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly)
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190
NM_031885.5(BBS2):c.1527+3_1527+6del rs1964208752
NM_031885.5(BBS2):c.152A>G (p.His51Arg) rs1964682368
NM_031885.5(BBS2):c.1534G>T (p.Val512Leu)
NM_031885.5(BBS2):c.1540C>T (p.Leu514Phe)
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) rs181107019
NM_031885.5(BBS2):c.155T>A (p.Val52Asp) rs2144193671
NM_031885.5(BBS2):c.1583A>G (p.Asn528Ser) rs2144134843
NM_031885.5(BBS2):c.1585G>A (p.Ala529Thr) rs1964175201
NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1634A>C (p.His545Pro) rs1461988620
NM_031885.5(BBS2):c.1649T>C (p.Leu550Pro) rs2144134545
NM_031885.5(BBS2):c.1652G>C (p.Ser551Thr) rs1442649485
NM_031885.5(BBS2):c.1675G>A (p.Asp559Asn)
NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr)
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr) rs780747680
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly) rs1964156754
NM_031885.5(BBS2):c.1744G>A (p.Val582Ile) rs2144132540
NM_031885.5(BBS2):c.1750G>A (p.Ala584Thr)
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val)
NM_031885.5(BBS2):c.1786G>C (p.Val596Leu)
NM_031885.5(BBS2):c.1791A>T (p.Leu597=)
NM_031885.5(BBS2):c.1798-16T>C
NM_031885.5(BBS2):c.1810C>T (p.His604Tyr)
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) rs930659537
NM_031885.5(BBS2):c.1840A>G (p.Met614Val)
NM_031885.5(BBS2):c.1841T>C (p.Met614Thr)
NM_031885.5(BBS2):c.1847A>T (p.Asp616Val)
NM_031885.5(BBS2):c.1849C>T (p.His617Tyr) rs2144130068
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1902G>C (p.Met634Ile)
NM_031885.5(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.5(BBS2):c.1919T>C (p.Met640Thr)
NM_031885.5(BBS2):c.1924A>C (p.Ser642Arg)
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)
NM_031885.5(BBS2):c.1957G>C (p.Asp653His)
NM_031885.5(BBS2):c.1964T>C (p.Leu655Pro) rs2144095663
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_031885.5(BBS2):c.1973A>T (p.Tyr658Phe) rs753656568
NM_031885.5(BBS2):c.1981C>G (p.Arg661Gly)
NM_031885.5(BBS2):c.2006T>G (p.Leu669Trp) rs2144095498
NM_031885.5(BBS2):c.2013C>A (p.Asn671Lys) rs1963755306
NM_031885.5(BBS2):c.2033C>T (p.Ala678Val) rs1191917991
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2044G>A (p.Ala682Thr) rs777000749
NM_031885.5(BBS2):c.2051G>A (p.Arg684His) rs138913160
NM_031885.5(BBS2):c.2059G>C (p.Val687Leu) rs754067097
NM_031885.5(BBS2):c.2060-5T>G rs374531370
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr) rs1426683547
NM_031885.5(BBS2):c.2101G>C (p.Ala701Pro) rs2144093137
NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln) rs1963728958
NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu)
NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile)
NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro) rs1963728191
NM_031885.5(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.5(BBS2):c.227G>C (p.Ser76Thr) rs895169510
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.5(BBS2):c.239C>T (p.Ala80Val) rs1964679008
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842
NM_031885.5(BBS2):c.259C>T (p.Leu87Phe)
NM_031885.5(BBS2):c.265T>C (p.Tyr89His)
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.268G>A (p.Asp90Asn)
NM_031885.5(BBS2):c.272C>A (p.Ala91Asp) rs2144193029
NM_031885.5(BBS2):c.313_314insCCC (p.Val105delinsAlaLeu)
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)
NM_031885.5(BBS2):c.345+4A>C
NM_031885.5(BBS2):c.345+4A>G
NM_031885.5(BBS2):c.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.365C>G (p.Ala122Gly) rs17856449
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.374T>C (p.Leu125Pro) rs2144181949
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)
NM_031885.5(BBS2):c.404T>A (p.Leu135His) rs2144181822
NM_031885.5(BBS2):c.407C>A (p.Ala136Glu)
NM_031885.5(BBS2):c.407C>G (p.Ala136Gly) rs373166163
NM_031885.5(BBS2):c.428C>T (p.Ala143Val) rs2144181662
NM_031885.5(BBS2):c.451G>A (p.Gly151Arg)
NM_031885.5(BBS2):c.466T>G (p.Trp156Gly)
NM_031885.5(BBS2):c.471+3A>G rs1964565857
NM_031885.5(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.484_495del (p.Asn162_Ser165del) rs2144180368
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) rs749148042
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys) rs779800067
NM_031885.5(BBS2):c.49C>G (p.Arg17Gly)
NM_031885.5(BBS2):c.4C>A (p.Leu2Met) rs2144214806
NM_031885.5(BBS2):c.503T>C (p.Leu168Ser)
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
NM_031885.5(BBS2):c.534+5G>T
NM_031885.5(BBS2):c.535-15A>T
NM_031885.5(BBS2):c.535-19T>C
NM_031885.5(BBS2):c.535-27_535-3del rs751101598
NM_031885.5(BBS2):c.535-4_535-3insA
NM_031885.5(BBS2):c.544G>C (p.Gly182Arg) rs1964532476
NM_031885.5(BBS2):c.552G>C (p.Glu184Asp) rs1423768973
NM_031885.5(BBS2):c.55G>A (p.Val19Met) rs1158566793
NM_031885.5(BBS2):c.55G>C (p.Val19Leu)
NM_031885.5(BBS2):c.566G>A (p.Arg189Gln)
NM_031885.5(BBS2):c.620C>T (p.Thr207Ile)
NM_031885.5(BBS2):c.634A>G (p.Met212Val) rs886052148
NM_031885.5(BBS2):c.636G>A (p.Met212Ile) rs1461732222
NM_031885.5(BBS2):c.651T>G (p.Phe217Leu) rs2144163118
NM_031885.5(BBS2):c.661C>T (p.Leu221Phe) rs2144163050
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.668A>G (p.Asn223Ser)
NM_031885.5(BBS2):c.674C>G (p.Thr225Arg)
NM_031885.5(BBS2):c.685T>G (p.Tyr229Asp) rs778543585
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro) rs1162842645
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.701G>A (p.Arg234Gln)
NM_031885.5(BBS2):c.706T>C (p.Trp236Arg) rs2144162792
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)
NM_031885.5(BBS2):c.764A>C (p.Asp255Ala) rs1436713218
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.770T>A (p.Val257Glu)
NM_031885.5(BBS2):c.806T>C (p.Val269Ala) rs886039797
NM_031885.5(BBS2):c.812C>T (p.Ala271Val)
NM_031885.5(BBS2):c.815G>A (p.Arg272Gln)
NM_031885.5(BBS2):c.838A>G (p.Ile280Val)
NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)
NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)
NM_031885.5(BBS2):c.897G>C (p.Met299Ile) rs759147772
NM_031885.5(BBS2):c.898G>T (p.Asp300Tyr)
NM_031885.5(BBS2):c.8T>A (p.Leu3Gln) rs1964870972
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.913T>G (p.Leu305Val) rs1964310691
NM_031885.5(BBS2):c.916A>G (p.Ile306Val) rs1964310396
NM_031885.5(BBS2):c.940+3A>C rs2144150079
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.946G>T (p.Gly316Cys)
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) rs1964301074
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_031885.5(BBS2):c.983T>C (p.Leu328Pro)
NM_031885.5(BBS2):c.992C>A (p.Thr331Asn)
NM_031885.5(BBS2):c.992C>G (p.Thr331Ser) rs2144148951
NM_031885.5(BBS2):c.992C>T (p.Thr331Ile)
NM_031885.5(BBS2):c.994A>G (p.Ser332Gly) rs576081735
NM_031942.5(CDCA7):c.1314_1319del (p.Tyr438_Lys440delinsTer)
NM_031942.5(CDCA7):c.547T>C (p.Ser183Pro)
NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly)
NM_032040.5(CCDC8):c.917_924delinsTCCTATG (p.Glu306fs)
NM_032119.4(ADGRV1):c.*18G>C rs368671859
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro) rs2149812991
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10517G>A (p.Arg3506Lys) rs764955627
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His) rs794727754
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr) rs2149973588
NM_032119.4(ADGRV1):c.11950A>G (p.Met3984Val) rs1756212683
NM_032119.4(ADGRV1):c.12291G>A (p.Glu4097=) rs1757979533
NM_032119.4(ADGRV1):c.12356C>T (p.Thr4119Ile) rs1757987875
NM_032119.4(ADGRV1):c.12479T>A (p.Ile4160Asn) rs1455010773
NM_032119.4(ADGRV1):c.12641A>G (p.Gln4214Arg) rs1758428874
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.13305T>G (p.Asp4435Glu) rs769915981
NM_032119.4(ADGRV1):c.13718C>T (p.Ala4573Val) rs749839670
NM_032119.4(ADGRV1):c.13838A>G (p.His4613Arg) rs775508830
NM_032119.4(ADGRV1):c.13897C>T (p.Gln4633Ter) rs1338081758
NM_032119.4(ADGRV1):c.14363C>T (p.Thr4788Ile) rs1194443703
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) rs727504605
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn) rs2150136010
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.14901T>C (p.Pro4967=) rs1762032375
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_032119.4(ADGRV1):c.15401A>G (p.Asp5134Gly) rs1762354671
NM_032119.4(ADGRV1):c.15476C>T (p.Thr5159Ile) rs1472004831
NM_032119.4(ADGRV1):c.15492C>A (p.Ser5164Arg) rs771447233
NM_032119.4(ADGRV1):c.15496A>T (p.Thr5166Ser) rs1762365729
NM_032119.4(ADGRV1):c.15697A>G (p.Met5233Val) rs937520838
NM_032119.4(ADGRV1):c.16337G>C (p.Cys5446Ser) rs1385789921
NM_032119.4(ADGRV1):c.16677T>C (p.Phe5559=) rs1765343575
NM_032119.4(ADGRV1):c.1678A>G (p.Ile560Val) rs1765203369
NM_032119.4(ADGRV1):c.17017A>C (p.Lys5673Gln) rs41303350
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.17024C>T (p.Thr5675Ile) rs1766156572
NM_032119.4(ADGRV1):c.17188G>T (p.Gly5730Cys) rs745645525
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_032119.4(ADGRV1):c.17455-6T>C rs773817946
NM_032119.4(ADGRV1):c.17460A>G (p.Leu5820=) rs1766790878
NM_032119.4(ADGRV1):c.17461T>C (p.Ser5821Pro)
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
NM_032119.4(ADGRV1):c.18433-13T>C rs1313679502
NM_032119.4(ADGRV1):c.18516T>C (p.Asn6172=) rs1458060011
NM_032119.4(ADGRV1):c.18668A>C (p.Gln6223Pro) rs756976267
NM_032119.4(ADGRV1):c.2301G>T (p.Leu767Phe) rs375652742
NM_032119.4(ADGRV1):c.2412C>T (p.Ser804=) rs1393079124
NM_032119.4(ADGRV1):c.2769T>C (p.Phe923=) rs1767484423
NM_032119.4(ADGRV1):c.2833G>T (p.Gly945Trp) rs1327028321
NM_032119.4(ADGRV1):c.3022+9G>C rs1767715969
NM_032119.4(ADGRV1):c.3416+9A>G rs1228297663
NM_032119.4(ADGRV1):c.3731T>C (p.Leu1244Ser) rs1457543918
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr) rs2149466957
NM_032119.4(ADGRV1):c.409A>G (p.Ile137Val) rs575602255
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_032119.4(ADGRV1):c.4556G>A (p.Gly1519Glu) rs1300795240
NM_032119.4(ADGRV1):c.4929+6C>A rs770299827
NM_032119.4(ADGRV1):c.4930-13T>C rs1772876338
NM_032119.4(ADGRV1):c.4977G>A (p.Glu1659=) rs1332531282
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe) rs2152065480
NM_032119.4(ADGRV1):c.5674C>T (p.His1892Tyr) rs1487676914
NM_032119.4(ADGRV1):c.5739C>T (p.Leu1913=) rs1445702123
NM_032119.4(ADGRV1):c.5776C>A (p.Gln1926Lys) rs1449286135
NM_032119.4(ADGRV1):c.5785G>A (p.Ala1929Thr) rs41311335
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5800G>C (p.Glu1934Gln) rs924076283
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp) rs768201036
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val) rs768201036
NM_032119.4(ADGRV1):c.6083C>T (p.Pro2028Leu) rs764451392
NM_032119.4(ADGRV1):c.6293T>C (p.Leu2098Pro)
NM_032119.4(ADGRV1):c.6491-10G>A rs1746236391
NM_032119.4(ADGRV1):c.6514T>C (p.Ser2172Pro) rs2149615684
NM_032119.4(ADGRV1):c.6526T>A (p.Leu2176Met) rs772875455
NM_032119.4(ADGRV1):c.6599C>G (p.Ser2200Cys) rs771621314
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.4(ADGRV1):c.709A>C (p.Lys237Gln) rs1764885190
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.7255C>T (p.Pro2419Ser) rs2149639504
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7702G>A (p.Val2568Ile) rs770016069
NM_032119.4(ADGRV1):c.7892C>G (p.Ala2631Gly) rs1471310336
NM_032119.4(ADGRV1):c.7893T>C (p.Ala2631=) rs1746947355
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=) rs556164327
NM_032119.4(ADGRV1):c.8156-4G>A rs1228094810
NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala) rs975296721
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val) rs555466095
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu) rs769373495
NM_032119.4(ADGRV1):c.9143C>G (p.Thr3048Arg) rs1749480488
NM_032119.4(ADGRV1):c.9182T>G (p.Ile3061Arg) rs1749486357
NM_032119.4(ADGRV1):c.9624-4T>A rs1750838817
NM_032119.4(ADGRV1):c.9763G>A (p.Val3255Met) rs776345555
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.4(RNASEH2C):c.*1217G>C rs886048490
NM_032193.4(RNASEH2C):c.*1378G>C rs746434462
NM_032193.4(RNASEH2C):c.*1768C>T rs886048486
NM_032193.4(RNASEH2C):c.*1806G>A rs886048484
NM_032193.4(RNASEH2C):c.*1831G>A rs886048483
NM_032193.4(RNASEH2C):c.*451C>T rs886048496
NM_032193.4(RNASEH2C):c.*45_*46insG rs886048498
NM_032193.4(RNASEH2C):c.*532C>G rs886048495
NM_032193.4(RNASEH2C):c.*560C>T rs886048494
NM_032193.4(RNASEH2C):c.*706T>A rs886048493
NM_032193.4(RNASEH2C):c.*78A>G rs1857332269
NM_032193.4(RNASEH2C):c.*862A>C rs886048491
NM_032193.4(RNASEH2C):c.-27G>T rs549471118
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr) rs1857361152
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp) rs759651650
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser) rs1857363681
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys) rs1194474428
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu) rs2135654103
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu) rs1857359953
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val) rs1233458293
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala) rs1857359394
NM_032193.4(RNASEH2C):c.172+5G>A rs781232402
NM_032193.4(RNASEH2C):c.173-4C>G rs886048501
NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val)
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser)
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys) rs2135653318
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro) rs2135654514
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val) rs1857352526
NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His)
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys) rs2135653148
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp) rs1857351791
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr) rs772347588
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn) rs771160923
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala) rs148186114
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe) rs1390405064
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg) rs766900205
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile) rs1318717066
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn) rs1379430577
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly) rs1857363170
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys) rs759057632
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu) rs113396656
NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn)
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu) rs1314714026
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu) rs2135652511
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro) rs765558776
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly) rs1857345402
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr) rs1388954201
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp) rs759644653
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val) rs2135652251
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser) rs78464826
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu) rs2135652204
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) rs781376271
NM_032193.4(RNASEH2C):c.468+5G>A rs753880827
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032193.4(RNASEH2C):c.469-14_469-9del
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala) rs2135651271
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) rs1857362640
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser) rs2135654326
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)
NM_032237.5(POMK):c.1044G>T (p.Glu348Asp) rs1426912299
NM_032237.5(POMK):c.110G>C (p.Cys37Ser) rs149845778
NM_032237.5(POMK):c.121T>G (p.Phe41Val) rs1811490118
NM_032237.5(POMK):c.137G>A (p.Arg46Gln)
NM_032237.5(POMK):c.154C>T (p.Pro52Ser)
NM_032237.5(POMK):c.181A>G (p.Arg61Gly) rs201953159
NM_032237.5(POMK):c.183G>C (p.Arg61Ser) rs778749095
NM_032237.5(POMK):c.197A>G (p.Lys66Arg)
NM_032237.5(POMK):c.208C>T (p.Pro70Ser)
NM_032237.5(POMK):c.215T>C (p.Leu72Pro) rs1811493094
NM_032237.5(POMK):c.222C>G (p.Cys74Trp)
NM_032237.5(POMK):c.223G>A (p.Glu75Lys)
NM_032237.5(POMK):c.257G>A (p.Arg86His) rs201095843
NM_032237.5(POMK):c.259G>C (p.Val87Leu)
NM_032237.5(POMK):c.265G>A (p.Glu89Lys) rs925752217
NM_032237.5(POMK):c.28A>G (p.Arg10Gly) rs1811485587
NM_032237.5(POMK):c.311A>C (p.Lys104Thr)
NM_032237.5(POMK):c.311A>G (p.Lys104Arg)
NM_032237.5(POMK):c.319C>T (p.Leu107Phe) rs867790285
NM_032237.5(POMK):c.347A>G (p.Lys116Arg) rs2130626356
NM_032237.5(POMK):c.37G>A (p.Ala13Thr)
NM_032237.5(POMK):c.383C>T (p.Ser128Phe) rs1482823387
NM_032237.5(POMK):c.385C>T (p.Leu129Phe)
NM_032237.5(POMK):c.401T>A (p.Val134Asp)
NM_032237.5(POMK):c.404T>A (p.Val135Asp) rs2130626484
NM_032237.5(POMK):c.407C>A (p.Thr136Lys) rs138216719
NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)
NM_032237.5(POMK):c.422G>C (p.Cys141Ser)
NM_032237.5(POMK):c.436A>T (p.Thr146Ser) rs1811932910
NM_032237.5(POMK):c.437C>G (p.Thr146Ser)
NM_032237.5(POMK):c.43C>G (p.Arg15Gly) rs774013796
NM_032237.5(POMK):c.44G>T (p.Arg15Leu)
NM_032237.5(POMK):c.454C>A (p.His152Asn)
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.464G>C (p.Gly155Ala)
NM_032237.5(POMK):c.473G>A (p.Ser158Asn)
NM_032237.5(POMK):c.47A>G (p.Glu16Gly) rs1811486808
NM_032237.5(POMK):c.481G>A (p.Glu161Lys) rs2130626660
NM_032237.5(POMK):c.502A>G (p.Lys168Glu)
NM_032237.5(POMK):c.505T>C (p.Tyr169His) rs2130626707
NM_032237.5(POMK):c.520A>G (p.Thr174Ala) rs753604559
NM_032237.5(POMK):c.521C>T (p.Thr174Met)
NM_032237.5(POMK):c.53C>T (p.Pro18Leu)
NM_032237.5(POMK):c.545C>T (p.Ala182Val) rs1811935914
NM_032237.5(POMK):c.551A>G (p.Asp184Gly)
NM_032237.5(POMK):c.553T>C (p.Tyr185His)
NM_032237.5(POMK):c.556G>T (p.Val186Phe) rs1241051300
NM_032237.5(POMK):c.577C>G (p.His193Asp)
NM_032237.5(POMK):c.598C>T (p.Arg200Trp)
NM_032237.5(POMK):c.599G>A (p.Arg200Gln) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu) rs146214675
NM_032237.5(POMK):c.634C>G (p.Leu212Val)
NM_032237.5(POMK):c.641A>T (p.Gln214Leu) rs1250212576
NM_032237.5(POMK):c.657C>A (p.Ser219Arg) rs1811940888
NM_032237.5(POMK):c.661T>C (p.Phe221Leu) rs1811941055
NM_032237.5(POMK):c.719T>C (p.Met240Thr) rs1811942751
NM_032237.5(POMK):c.737A>G (p.His246Arg)
NM_032237.5(POMK):c.739A>G (p.Arg247Gly)
NM_032237.5(POMK):c.745C>A (p.Leu249Met) rs2130627298
NM_032237.5(POMK):c.74T>C (p.Leu25Pro) rs1811488354
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
NM_032237.5(POMK):c.808G>C (p.Asp270His)
NM_032237.5(POMK):c.80T>C (p.Met27Thr) rs2130601203
NM_032237.5(POMK):c.817A>T (p.Met273Leu) rs1344780295
NM_032237.5(POMK):c.827A>G (p.Tyr276Cys) rs1811945936
NM_032237.5(POMK):c.859G>A (p.Asp287Asn)
NM_032237.5(POMK):c.859G>C (p.Asp287His) rs1811947241
NM_032237.5(POMK):c.869G>C (p.Ser290Thr)
NM_032237.5(POMK):c.874C>T (p.Leu292Phe) rs1811947580
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.914A>G (p.His305Arg)
NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032237.5(POMK):c.970G>T (p.Ala324Ser)
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met) rs1215307853
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu) rs569985954
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) rs2125061097
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) rs1311043090
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr) rs2125061122
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr) rs2082573376
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)
NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)
NM_032492.4(JAGN1):c.258_259del (p.Leu87fs) rs1232664557
NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser) rs1433604133
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly) rs866176976
NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)
NM_032492.4(JAGN1):c.310A>G (p.Met104Val)
NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn) rs2082574453
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) rs1467031121
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.392G>A (p.Arg131His) rs542419840
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr) rs1444848644
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp) rs1575466167
NM_032492.4(JAGN1):c.420del (p.Phe140fs)
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly) rs943577194
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr) rs1177521463
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys) rs372426169
NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg) rs2082575975
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys) rs1043365547
NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) rs756989255
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs) rs2082557086
NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)
NM_032492.4(JAGN1):c.77A>T (p.His26Leu) rs1559259122
NM_032492.4(JAGN1):c.89+1G>A
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)
NM_032575.3(GLIS2):c.*1046G>C rs886051998
NM_032575.3(GLIS2):c.*125G>A rs531374169
NM_032575.3(GLIS2):c.*1319A>G rs2053591653
NM_032575.3(GLIS2):c.*1628C>G rs886052001
NM_032575.3(GLIS2):c.*1700G>A rs886052002
NM_032575.3(GLIS2):c.*1710C>A rs977793955
NM_032575.3(GLIS2):c.*1911G>C rs1462021751
NM_032575.3(GLIS2):c.*1931C>G rs960392881
NM_032575.3(GLIS2):c.*1998C>G rs2053602695
NM_032575.3(GLIS2):c.*2021C>T rs2053603023
NM_032575.3(GLIS2):c.*204G>A rs2053573148
NM_032575.3(GLIS2):c.*2058G>A rs2053603535
NM_032575.3(GLIS2):c.*291TCC[1] rs377612419
NM_032575.3(GLIS2):c.*611G>A rs886051993
NM_032575.3(GLIS2):c.*849G>C rs757142602
NM_032575.3(GLIS2):c.*887G>C rs886051997
NM_032575.3(GLIS2):c.1000C>A (p.Pro334Thr)
NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg)
NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser) rs1161017853
NM_032575.3(GLIS2):c.1042G>A (p.Val348Ile)
NM_032575.3(GLIS2):c.1061T>C (p.Ile354Thr)
NM_032575.3(GLIS2):c.1078G>A (p.Ala360Thr)
NM_032575.3(GLIS2):c.1094C>T (p.Pro365Leu) rs2053561223
NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr)
NM_032575.3(GLIS2):c.1123G>C (p.Ala375Pro)
NM_032575.3(GLIS2):c.1194_1208dup (p.Gly401_Pro405dup) rs878855164
NM_032575.3(GLIS2):c.1202G>T (p.Gly401Val) rs1433611737
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345
NM_032575.3(GLIS2):c.127G>A (p.Val43Met) rs886051989
NM_032575.3(GLIS2):c.1320C>T (p.Gly440=)
NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys)
NM_032575.3(GLIS2):c.1355C>A (p.Pro452His) rs776535774
NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val)
NM_032575.3(GLIS2):c.1393C>T (p.Leu465Phe) rs774316267
NM_032575.3(GLIS2):c.1397A>G (p.Glu466Gly)
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.1480G>A (p.Val494Ile)
NM_032575.3(GLIS2):c.210G>A (p.Glu70=) rs886051990
NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)
NM_032575.3(GLIS2):c.362G>A (p.Arg121His)
NM_032575.3(GLIS2):c.512G>A (p.Arg171His)
NM_032575.3(GLIS2):c.523-9C>T rs2053535570
NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)
NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys) rs140720783
NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp) rs758877751
NM_032687.4(TMEM276):c.259C>A (p.Arg87Ser) rs752345868
NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)
NM_032793.5(MFSD2A):c.228+8G>A
NM_032793.5(MFSD2A):c.379G>C (p.Val127Leu) rs144708707
NM_032793.5(MFSD2A):c.446T>C (p.Leu149Pro)
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile) rs1060499570
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) rs34083889
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg) rs868551107
NM_032808.7(LINGO1):c.158G>A (p.Arg53His)
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466
NM_032957.4(RTEL1):c.1346T>C rs863224915
NM_032957.4(RTEL1):c.838_840delGAG rs1555901753
NM_033028.5(BBS4):c.*159A>G rs2065955405
NM_033028.5(BBS4):c.*1_*2delGA
NM_033028.5(BBS4):c.*1_*3delGAA
NM_033028.5(BBS4):c.*883C>T rs886051470
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val) rs750983167
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile) rs758032659
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln) rs1478448702
NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr) rs367767132
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys) rs1336636537
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys) rs766266805
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del) rs1414925501
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn) rs1295583634
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
NM_033028.5(BBS4):c.1248+4T>C rs2065914727
NM_033028.5(BBS4):c.1248G>A (p.Glu416=) rs914591602
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly) rs767070801
NM_033028.5(BBS4):c.1294del (p.Glu432fs) rs912967826
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly) rs2151057022
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly) rs753145823
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
NM_033028.5(BBS4):c.1340A>C (p.His447Pro) rs1419223053
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly) rs773209808
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg) rs766535822
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro) rs776847398
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu) rs2065937102
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu) rs2277596
NM_033028.5(BBS4):c.1450+2_1450+5del rs1287237832
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser) rs2065938048
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg) rs2151058260
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
NM_033028.5(BBS4):c.1493del (p.Pro498fs) rs777455492
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val) rs1278438729
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly) rs2065950720
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs) rs1463405501
NM_033028.5(BBS4):c.156+4A>G
NM_033028.5(BBS4):c.157-20C>T rs2151019478
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr) rs2064831111
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro) rs2064831111
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
NM_033028.5(BBS4):c.220+3A>G
NM_033028.5(BBS4):c.220+3A>T rs376143305
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp) rs745338483
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser) rs1567415169
NM_033028.5(BBS4):c.252A>T (p.Gln84His) rs2065448650
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
NM_033028.5(BBS4):c.276A>G (p.Thr92=) rs2151023356
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg) rs139038321
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
NM_033028.5(BBS4):c.332+2dup rs753360929
NM_033028.5(BBS4):c.333-13A>G
NM_033028.5(BBS4):c.349C>T (p.His117Tyr) rs765399591
NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
NM_033028.5(BBS4):c.403T>A (p.Trp135Arg) rs768304898
NM_033028.5(BBS4):c.428T>A (p.Val143Asp) rs2065601390
NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn) rs781691906
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
NM_033028.5(BBS4):c.460-15T>A
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys) rs147391634
NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn) rs769766779
NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
NM_033028.5(BBS4):c.530T>G (p.Ile177Ser) rs1341828921
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly) rs751216768
NM_033028.5(BBS4):c.562A>G (p.Ile188Val) rs2151034404
NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys) rs756915341
NM_033028.5(BBS4):c.587+1G>A rs886051466
NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
NM_033028.5(BBS4):c.619A>G (p.Thr207Ala) rs558382374
NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
NM_033028.5(BBS4):c.631C>T (p.Leu211Phe) rs1567426035
NM_033028.5(BBS4):c.683C>T (p.Ala228Val) rs2151043996
NM_033028.5(BBS4):c.701C>A (p.Thr234Asn) rs2151044050
NM_033028.5(BBS4):c.740A>G (p.Gln247Arg) rs746471801
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_033028.5(BBS4):c.76+3del
NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe) rs146595193
NM_033028.5(BBS4):c.77C>T (p.Ala26Val) rs2151016128
NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033028.5(BBS4):c.865-3T>C
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
NM_033028.5(BBS4):c.956A>G (p.Gln319Arg) rs1595948085
NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
NM_033028.5(BBS4):c.988G>A (p.Ala330Thr) rs2065827621
NM_033028.5(BBS4):c.991A>G (p.Ile331Val) rs1316841175
NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp) rs2065827783
NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg) rs1406470633
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=) rs2076416258
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu) rs765129268
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal) rs2076402324
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup) rs758259410
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr) rs886047062
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup) rs772692454
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del) rs2076368967
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser) rs1194313858
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del) rs777129729
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del) rs761936890
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5339C>A (p.Pro1780His) rs1564533607
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg) rs1564533607
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1]) rs2076338069
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=) rs767304005
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter) rs2076312170
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala) rs1420803454
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly) rs2076305966
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del) rs771643291
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe) rs2132483191
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr) rs202223635
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs) rs778380770
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs) rs568470164
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile) rs931395591
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys) rs200913448
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs) rs757543551
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033064.4(ATCAY):c.-375G>T rs886054373
NM_033064.5(ATCAY):c.*1051T>C rs1599152069
NM_033064.5(ATCAY):c.*1188G>T rs886054420
NM_033064.5(ATCAY):c.*1322T>G rs960684972
NM_033064.5(ATCAY):c.*143G>A rs537298270
NM_033064.5(ATCAY):c.*1660T>G rs1463951003
NM_033064.5(ATCAY):c.*192_*193del rs796133913
NM_033064.5(ATCAY):c.*1978G>A rs918032296
NM_033064.5(ATCAY):c.*2297C>A rs886054424
NM_033064.5(ATCAY):c.*2357G>C rs551091925
NM_033064.5(ATCAY):c.*2426C>T rs886054426
NM_033064.5(ATCAY):c.*266C>T rs867087852
NM_033064.5(ATCAY):c.*3202G>A rs1293185068
NM_033064.5(ATCAY):c.*3319C>T rs2039082103
NM_033064.5(ATCAY):c.*391C>A rs765579267
NM_033064.5(ATCAY):c.*391C>T rs765579267
NM_033064.5(ATCAY):c.*430G>T rs866573378
NM_033064.5(ATCAY):c.*441G>A rs117035326
NM_033064.5(ATCAY):c.*496C>A rs886054417
NM_033064.5(ATCAY):c.*599T>C rs571828838
NM_033064.5(ATCAY):c.*608G>C rs926357788
NM_033064.5(ATCAY):c.*813G>C rs886054418
NM_033064.5(ATCAY):c.-41-1022G>A
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
NM_033064.5(ATCAY):c.162C>T (p.Asn54=) rs373392142
NM_033064.5(ATCAY):c.544+16dup rs140914543
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_033064.5(ATCAY):c.555C>A (p.Gly185=) rs367736161
NM_033064.5(ATCAY):c.647+15G>A rs117167523
NM_033064.5(ATCAY):c.647+15G>C rs117167523
NM_033064.5(ATCAY):c.678G>A (p.Val226=) rs886054415
NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp) rs2038904766
NM_033071.3(SYNE1):c.17995_17997delGAG
NM_033071.3(SYNE1):c.21832-2dup rs35128811
NM_033109.5(PNPT1):c.1176+439G>A
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu) rs1575477812
NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs) rs774069989
NM_033550.4(TP53RK):c.185G>A (p.Arg62His)
NM_033550.4(TP53RK):c.598C>G (p.Leu200Val) rs2063182741
NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
NM_033629.6(TREX1):c.113C>T (p.Ala38Val) rs2040326850
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr) rs780414238
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser) rs780414238
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr) rs751831423
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser)
NM_033629.6(TREX1):c.140C>A (p.Pro47His)
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)
NM_033629.6(TREX1):c.142_144del (p.Pro48del) rs748914604
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu) rs2040328677
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro) rs2107256110
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg) rs777034646
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu) rs777034646
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly)
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys) rs532286717
NM_033629.6(TREX1):c.185G>A (p.Arg62His) rs547752029
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu) rs547752029
NM_033629.6(TREX1):c.187G>A (p.Val63Met)
NM_033629.6(TREX1):c.191T>C (p.Val64Ala) rs763056226
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro) rs2107256717
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser) rs748535974
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu) rs2040321005
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
NM_033629.6(TREX1):c.284A>C (p.His95Pro)
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala)
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys)
NM_033629.6(TREX1):c.294A>C (p.Gln98His)
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)
NM_033629.6(TREX1):c.2T>C (p.Met1Thr) rs1179208432
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu) rs2107257691
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)
NM_033629.6(TREX1):c.314C>T (p.Ala105Val)
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly) rs759594113
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg) rs780467272
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser) rs757863487
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
NM_033629.6(TREX1):c.391T>G (p.Phe131Val) rs1064796645
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu) rs746384382
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
NM_033629.6(TREX1):c.412C>G (p.Leu138Val) rs2040349486
NM_033629.6(TREX1):c.419T>C (p.Met140Thr) rs2107259076
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser) rs2040351031
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn) rs2040351297
NM_033629.6(TREX1):c.43_45dup (p.Ile15dup) rs2040322179
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly) rs776885477
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
NM_033629.6(TREX1):c.467_469dup (p.Ile156dup) rs1272053329
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser) rs1210588757
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln) rs143885312
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro) rs143885312
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu) rs2040354615
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr) rs1177028457
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu)
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys)
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly) rs2107260081
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly) rs2107260408
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile) rs1464355841
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
NM_033629.6(TREX1):c.554G>A (p.Arg185His) rs767157848
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_033629.6(TREX1):c.55A>C (p.Met19Leu) rs2107255139
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
NM_033629.6(TREX1):c.56T>C (p.Met19Thr)
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly) rs1575293494
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys) rs1416519719
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr) rs2107261840
NM_033629.6(TREX1):c.608C>T (p.Ala203Val) rs2107261898
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
NM_033629.6(TREX1):c.627G>C (p.Gln209His) rs748970378
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr) rs1575293697
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln) rs775117062
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
NM_033629.6(TREX1):c.664C>A (p.His222Asn)
NM_033629.6(TREX1):c.666C>A (p.His222Gln)
NM_033629.6(TREX1):c.666C>G (p.His222Gln) rs1431098691
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu)
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
NM_033629.6(TREX1):c.694A>G (p.Met232Val) rs2040371837
NM_033629.6(TREX1):c.703del (p.Val235fs)
NM_033629.6(TREX1):c.704T>G (p.Val235Gly) rs2107263775
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg) rs1560113388
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr) rs112741962
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile) rs759962919
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile) rs2040376821
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
NM_033629.6(TREX1):c.757C>G (p.His253Asp) rs1236695721
NM_033629.6(TREX1):c.757C>T (p.His253Tyr)
NM_033629.6(TREX1):c.758A>G (p.His253Arg)
NM_033629.6(TREX1):c.760C>A (p.Leu254Met)
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile) rs1447568260
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly) rs2107264871
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn)
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs) rs2107264951
NM_033629.6(TREX1):c.799dup (p.Ser267fs) rs2107265081
NM_033629.6(TREX1):c.802del (p.Arg268fs) rs2107265153
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr) rs2040380664
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
NM_033629.6(TREX1):c.817C>G (p.Leu273Val) rs2040382167
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg) rs1369567808
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
NM_033629.6(TREX1):c.854A>T (p.Glu285Val) rs2040385549
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu) rs2040386246
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer) rs2107266070
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser)
NM_033629.6(TREX1):c.895T>G (p.Leu299Val)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.901G>A (p.Val301Ile)
NM_033629.6(TREX1):c.902dup (p.Ala302fs)
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile) rs765487310
NM_033629.6(TREX1):c.909_910del (p.Leu304fs) rs1315240244
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs) rs778550314
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg) rs2040391623
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter) rs2040391623
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala)
NM_033629.6(TREX1):c.91G>A (p.Val31Ile) rs1057321761
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala) rs1265570241
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)
NM_052989.3(IFT122):c.*121G>T rs536919948
NM_052989.3(IFT122):c.*142C>G rs977256057
NM_052989.3(IFT122):c.*241C>G rs2084614746
NM_052989.3(IFT122):c.-22C>A rs551140180
NM_052989.3(IFT122):c.1008+3A>C
NM_052989.3(IFT122):c.108+4G>A rs1559838129
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
NM_052989.3(IFT122):c.109-7T>C
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe) rs2108292713
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe) rs1335391766
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys) rs1577642330
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
NM_052989.3(IFT122):c.1488G>A (p.Gln496=) rs2078432243
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) rs2078655875
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) rs886057965
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
NM_052989.3(IFT122):c.1862T>G (p.Met621Arg)
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
NM_052989.3(IFT122):c.2304G>A (p.Val768=) rs886057966
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe) rs139943115
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
NM_052989.3(IFT122):c.2523C>T (p.His841=) rs780586191
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) rs2081966365
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg) rs2082199852
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-334T>G
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) rs747428443
NM_052989.3(IFT122):c.2792-12T>A
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp) rs747843863
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) rs1178500227
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn) rs900548596
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3265+5G>A
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3391+6C>T rs2084139065
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val) rs754333037
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln) rs766429633
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3586del (p.Arg1196fs) rs1560036538
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.3636+3A>G rs753825998
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) rs2084594582
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr) rs1278478989
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) rs781766922
NM_052989.3(IFT122):c.556C>T (p.Pro186Ser) rs2108118912
NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
NM_052989.3(IFT122):c.618T>G (p.Ile206Met) rs1320096747
NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
NM_052989.3(IFT122):c.686A>C (p.Glu229Ala) rs1433055646
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) rs2076877349
NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn) rs2108198145
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp) rs1268071941
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
NM_052989.3(IFT122):c.977C>T (p.Thr326Met) rs1389723772
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) rs201395198
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)
NM_080628.3(TLDC2):c.*18-641T>G rs886056644
NM_080628.3(TLDC2):c.*18-647C>G rs1990092783
NM_080628.3(TLDC2):c.*18-812A>G rs1990087887
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr) rs997533180
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377
NM_080680.3(COL11A2):c.4550A>G (p.Asp1517Gly) rs1769033329
NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys) rs141442936
NM_130384.3(ATRIP):c.*1024C>T rs2040311705
NM_130384.3(ATRIP):c.*576G>T rs886058622
NM_130384.3(ATRIP):c.*732CTGC[4] rs371036312
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1626A>G (p.Glu542=) rs1734453026
NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu) rs1734780550
NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)
NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro) rs2032370674
NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr) rs1320335674
NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu) rs756451615
NM_133378.4(TTN):c.10361-1262dup rs876657673
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133379.5(TTN):c.10559C>A (p.Pro3520Gln) rs189445085
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg) rs184027783
NM_133379.5(TTN):c.11106G>C (p.Leu3702Phe)
NM_133379.5(TTN):c.11148G>C (p.Lys3716Asn)
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu) rs182640468
NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly) rs201757429
NM_133379.5(TTN):c.12276C>T (p.Pro4092=) rs902600429
NM_133379.5(TTN):c.12356del (p.Glu4119fs) rs1085307104
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter) rs372994805
NM_133379.5(TTN):c.13748_13751del (p.Ile4583fs) rs1460696675
NM_133379.5(TTN):c.15304A>G (p.Thr5102Ala) rs371168275
NM_133379.5(TTN):c.15676G>C (p.Asp5226His) rs147492121
NM_133379.5(TTN):c.16531G>T (p.Glu5511Ter) rs794729307
NM_138387.4(G6PC3):c.*234C>G rs763555878
NM_138387.4(G6PC3):c.*67G>A rs11544393
NM_138387.4(G6PC3):c.-162G>A rs536609615
NM_138387.4(G6PC3):c.1002G>T (p.Met334Ile)
NM_138387.4(G6PC3):c.1007G>C (p.Ser336Thr)
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter) rs889605875
NM_138387.4(G6PC3):c.101A>T (p.Asp34Val) rs2049968647
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln) rs2144135194
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) rs1157699874
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) rs1417784733
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) rs760709054
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg) rs752966267
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) rs2144135656
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) rs34878178
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
NM_138387.4(G6PC3):c.218+486A>G
NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro) rs2144145534
NM_138387.4(G6PC3):c.228T>G (p.Phe76Leu) rs2144145566
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) rs750742016
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) rs1597905158
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) rs2050044130
NM_138387.4(G6PC3):c.374T>A (p.Ile125Lys) rs2050045175
NM_138387.4(G6PC3):c.376A>G (p.Met126Val) rs1597908497
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) rs886052986
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) rs754034468
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
NM_138387.4(G6PC3):c.416+3A>G rs2050047994
NM_138387.4(G6PC3):c.416+6C>T
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-9T>G rs759937203
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
NM_138387.4(G6PC3):c.560C>T (p.Thr187Ile)
NM_138387.4(G6PC3):c.568G>A (p.Val190Met) rs2050072075
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) rs2144134978
NM_138387.4(G6PC3):c.575T>C (p.Met192Thr)
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) rs764056109
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) rs2144152394
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) rs2050074839
NM_138387.4(G6PC3):c.674C>G (p.Ser225Cys) rs748442084
NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe)
NM_138387.4(G6PC3):c.677+5G>A rs560767207
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) rs2144155135
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) rs1597911422
NM_138387.4(G6PC3):c.735C>A (p.Ser245Arg) rs2050088788
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) rs1198102696
NM_138387.4(G6PC3):c.740C>G (p.Pro247Arg) rs1158728815
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
NM_138387.4(G6PC3):c.816G>A (p.Gln272=) rs960279172
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys)
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly)
NM_138387.4(G6PC3):c.851T>G (p.Ile284Arg) rs2050092912
NM_138387.4(G6PC3):c.854C>A (p.Ala285Asp) rs1335171821
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) rs2144135089
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
NM_138387.4(G6PC3):c.904C>T (p.His302Tyr) rs2050096005
NM_138387.4(G6PC3):c.908C>A (p.Pro303His) rs776556492
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) rs1314910205
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) rs2050097163
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe) rs2144156840
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) rs2144156932
NM_138387.4(G6PC3):c.940T>C (p.Phe314Leu) rs1212393526
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) rs1448628053
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) rs1013640910
NM_138395.4(MARS2):c.1595C>G (p.Ala532Gly)
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe) rs1574775353
NM_138395.4(MARS2):c.590T>A (p.Leu197His) rs2106292827
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser) rs1574775779
NM_138691.3(TMC1):c.*10T>C rs1829120621
NM_138691.3(TMC1):c.-442T>G rs1823318883
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile) rs1271495869
NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser)
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) rs993650641
NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg)
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) rs2118194338
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) rs2118298286
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr) rs2118299337
NM_138691.3(TMC1):c.2004T>G (p.Ser668Arg) rs1181901214
NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp) rs1828964954
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) rs1588105861
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr) rs1057515624
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.505C>G (p.Pro169Ala) rs1827407033
NM_138691.3(TMC1):c.545G>T (p.Gly182Val) rs199560971
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.642+4A>C rs2118056443
NM_138691.3(TMC1):c.859T>C (p.Tyr287His)
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_138694.3(PKHD1):c.-276A>C rs773740905
NM_138694.4(PKHD1):c.*1023G>A rs185962129
NM_138694.4(PKHD1):c.*1130C>T rs181120541
NM_138694.4(PKHD1):c.*1335T>C rs886061603
NM_138694.4(PKHD1):c.*1492_*1497del rs886061601
NM_138694.4(PKHD1):c.*1589T>G rs886061600
NM_138694.4(PKHD1):c.*1592T>C rs1288662627
NM_138694.4(PKHD1):c.*1596C>T rs555042069
NM_138694.4(PKHD1):c.*1749C>T rs886061599
NM_138694.4(PKHD1):c.*1T>C rs369623770
NM_138694.4(PKHD1):c.*2463C>T rs1766092325
NM_138694.4(PKHD1):c.*2552_*2553dup rs113144792
NM_138694.4(PKHD1):c.*2553dup rs113144792
NM_138694.4(PKHD1):c.*2665C>A rs189302289
NM_138694.4(PKHD1):c.*2857A>C rs886061594
NM_138694.4(PKHD1):c.*3379A>G rs544667112
NM_138694.4(PKHD1):c.*3505AATT[1] rs552076092
NM_138694.4(PKHD1):c.*3520T>C rs886061591
NM_138694.4(PKHD1):c.*604C>A rs41273720
NM_138694.4(PKHD1):c.*760T>G rs886061607
NM_138694.4(PKHD1):c.-185A>G rs1812958193
NM_138694.4(PKHD1):c.10002A>G (p.Lys3334=) rs886061613
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
NM_138694.4(PKHD1):c.10091T>C (p.Leu3364Pro)
NM_138694.4(PKHD1):c.1009G>A (p.Ala337Thr)
NM_138694.4(PKHD1):c.100G>A (p.Gly34Arg) rs2128244638
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.10151A>G (p.Asn3384Ser)
NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile) rs2150418782
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
NM_138694.4(PKHD1):c.10207T>C (p.Phe3403Leu)
NM_138694.4(PKHD1):c.10219C>G (p.Gln3407Glu) rs781368899
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
NM_138694.4(PKHD1):c.10251C>A (p.Ser3417Arg)
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10252G>C (p.Ala3418Pro) rs776589273
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.10326C>A (p.Ser3442Arg) rs1581895338
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser) rs1772516071
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.10436A>G (p.Gln3479Arg)
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr) rs149486694
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro) rs533977466
NM_138694.4(PKHD1):c.10475C>T (p.Ser3492Phe) rs1772497198
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10505A>T (p.Glu3502Val) rs1554183496
NM_138694.4(PKHD1):c.10522G>A (p.Val3508Ile)
NM_138694.4(PKHD1):c.10524CTT[1] (p.Phe3509del) rs1345766794
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=) rs1581893486
NM_138694.4(PKHD1):c.10571C>T (p.Ser3524Phe) rs1554183437
NM_138694.4(PKHD1):c.10613T>A (p.Ile3538Asn) rs2150414899
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.10640T>C (p.Leu3547Pro) rs2150414704
NM_138694.4(PKHD1):c.10657A>G (p.Ile3553Val)
NM_138694.4(PKHD1):c.10688T>G (p.Leu3563Trp)
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln) rs1772450315
NM_138694.4(PKHD1):c.10724G>T (p.Gly3575Val) rs886061611
NM_138694.4(PKHD1):c.10798G>A (p.Glu3600Lys)
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10837G>A (p.Asp3613Asn)
NM_138694.4(PKHD1):c.10844G>A (p.Arg3615Lys)
NM_138694.4(PKHD1):c.1085T>G (p.Phe362Cys) rs752514286
NM_138694.4(PKHD1):c.10870A>G (p.Thr3624Ala)
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) rs147700643
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.10925T>C (p.Met3642Thr) rs1554183164
NM_138694.4(PKHD1):c.10932G>T (p.Met3644Ile)
NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)
NM_138694.4(PKHD1):c.11006C>T (p.Ser3669Leu)
NM_138694.4(PKHD1):c.1102G>A (p.Glu368Lys)
NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=) rs1204544455
NM_138694.4(PKHD1):c.11044T>C (p.Ser3682Pro)
NM_138694.4(PKHD1):c.11075G>A (p.Arg3692Gln)
NM_138694.4(PKHD1):c.11078T>G (p.Val3693Gly)
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile) rs113697159
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11178T>A (p.Asn3726Lys)
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11219C>T (p.Pro3740Leu) rs2150367118
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11252A>T (p.Asp3751Val)
NM_138694.4(PKHD1):c.11255G>C (p.Gly3752Ala)
NM_138694.4(PKHD1):c.11307G>T (p.Glu3769Asp) rs1489049173
NM_138694.4(PKHD1):c.11310+3A>G rs1271798139
NM_138694.4(PKHD1):c.11310G>C (p.Gln3770His)
NM_138694.4(PKHD1):c.11319A>T (p.Arg3773Ser)
NM_138694.4(PKHD1):c.1131T>G (p.Ser377Arg)
NM_138694.4(PKHD1):c.11347C>G (p.Pro3783Ala)
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11383G>A (p.Asp3795Asn)
NM_138694.4(PKHD1):c.11387C>T (p.Ser3796Leu)
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.1145C>T (p.Ala382Val)
NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg) rs1012338385
NM_138694.4(PKHD1):c.11483T>C (p.Ile3828Thr)
NM_138694.4(PKHD1):c.11507-10C>G rs1768075438
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.11533C>A (p.Pro3845Thr)
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11563_11565del (p.Glu3855del)
NM_138694.4(PKHD1):c.11668A>G (p.Thr3890Ala) rs2150278411
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11774_11775del (p.Val3925fs) rs1554165849
NM_138694.4(PKHD1):c.11786-2del rs1554163591
NM_138694.4(PKHD1):c.11828C>G (p.Pro3943Arg) rs2150241950
NM_138694.4(PKHD1):c.11840T>C (p.Met3947Thr)
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly) rs886061608
NM_138694.4(PKHD1):c.11888A>T (p.Glu3963Val)
NM_138694.4(PKHD1):c.11896G>A (p.Ala3966Thr)
NM_138694.4(PKHD1):c.11899_11907del (p.Val3967_Ala3969del) rs1457757188
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=) rs751385266
NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser) rs2150241066
NM_138694.4(PKHD1):c.11935G>A (p.Gly3979Arg) rs2150240920
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=) rs1766326928
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
NM_138694.4(PKHD1):c.11952_11954del (p.Gly3985del) rs1329790948
NM_138694.4(PKHD1):c.11986_12003del (p.Thr3996_Glu4001del) rs1554163379
NM_138694.4(PKHD1):c.12014A>C (p.Gln4005Pro)
NM_138694.4(PKHD1):c.12099del (p.Gln4034fs) rs1554163298
NM_138694.4(PKHD1):c.12118C>T (p.Gln4040Ter) rs1554163280
NM_138694.4(PKHD1):c.12120A>C (p.Gln4040His)
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter) rs745888824
NM_138694.4(PKHD1):c.12166del (p.Ala4056fs) rs1554163223
NM_138694.4(PKHD1):c.1231A>G (p.Lys411Glu)
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1234-10T>C rs4715272
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.1258G>A (p.Gly420Ser)
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg) rs140458350
NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg) rs763244593
NM_138694.4(PKHD1):c.1353G>A (p.Met451Ile) rs886061622
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1403G>A (p.Arg468Lys) rs765645325
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro) rs186202437
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1555G>A (p.Asp519Asn)
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1600C>A (p.Leu534Met)
NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
NM_138694.4(PKHD1):c.1714G>A (p.Asp572Asn)
NM_138694.4(PKHD1):c.1747T>A (p.Cys583Ser)
NM_138694.4(PKHD1):c.1817G>A (p.Arg606Gln)
NM_138694.4(PKHD1):c.187_189del (p.Val63del) rs1554228222
NM_138694.4(PKHD1):c.1900G>A (p.Gly634Ser)
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) rs1554214687
NM_138694.4(PKHD1):c.1946C>T (p.Thr649Met)
NM_138694.4(PKHD1):c.1947_1952del (p.Arg650_Thr651del) rs1554214650
NM_138694.4(PKHD1):c.1953_1964delCAGCCCCGAGAG (p.Ser652_Ser655del)
NM_138694.4(PKHD1):c.1975G>A (p.Asp659Asn)
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile) rs1012552954
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly) rs375547868
NM_138694.4(PKHD1):c.2005C>T (p.Arg669Cys)
NM_138694.4(PKHD1):c.206T>C (p.Val69Ala)
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.2120T>G (p.Ile707Ser) rs2128203303
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2165C>T (p.Ala722Val)
NM_138694.4(PKHD1):c.2168G>A (p.Arg723His) rs150597050
NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) rs763682158
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu) rs1806591259
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2280-3C>T
NM_138694.4(PKHD1):c.2306A>G (p.Glu769Gly)
NM_138694.4(PKHD1):c.2341C>G (p.Arg781Gly)
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu) rs1806234590
NM_138694.4(PKHD1):c.2371C>G (p.His791Asp) rs781097626
NM_138694.4(PKHD1):c.2396C>G (p.Thr799Arg) rs1465053705
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys) rs781698219
NM_138694.4(PKHD1):c.2507_2515del (p.Val836_Glu838del) rs1554209944
NM_138694.4(PKHD1):c.2516A>G (p.Asp839Gly)
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) rs1562220663
NM_138694.4(PKHD1):c.2593-3C>T rs1290670072
NM_138694.4(PKHD1):c.2597C>G (p.Ser866Cys) rs776017473
NM_138694.4(PKHD1):c.2612C>G (p.Thr871Ser)
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro) rs1581922432
NM_138694.4(PKHD1):c.2627C>T (p.Ala876Val)
NM_138694.4(PKHD1):c.2636C>T (p.Thr879Met)
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala) rs373974753
NM_138694.4(PKHD1):c.2654G>A (p.Gly885Asp) rs1307445542
NM_138694.4(PKHD1):c.2722G>T (p.Val908Leu) rs2128184282
NM_138694.4(PKHD1):c.2729_2731delinsCTC (p.Val910_Asn911delinsAlaHis) rs2128184229
NM_138694.4(PKHD1):c.2733_2734insTGCCCAGGTTCAGGT (p.Asn911_Asp912insCysProGlySerGly) rs2128184195
NM_138694.4(PKHD1):c.2740C>T (p.Pro914Ser)
NM_138694.4(PKHD1):c.281+13G>A rs1812167147
NM_138694.4(PKHD1):c.281+2dup rs1554228127
NM_138694.4(PKHD1):c.2834A>T (p.Asn945Ile)
NM_138694.4(PKHD1):c.2853C>A (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro) rs770882723
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val) rs957113162
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.3016A>G (p.Ile1006Val)
NM_138694.4(PKHD1):c.3060A>G (p.Arg1020=)
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=) rs1581909859
NM_138694.4(PKHD1):c.3110CCA[1] (p.Thr1038del) rs1554204118
NM_138694.4(PKHD1):c.3118C>G (p.Arg1040Gly) rs755183117
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3167C>T (p.Ser1056Leu)
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
NM_138694.4(PKHD1):c.3178A>T (p.Asn1060Tyr)
NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)
NM_138694.4(PKHD1):c.3223C>G (p.Pro1075Ala) rs1229292183
NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met) rs372422063
NM_138694.4(PKHD1):c.3269_3280del (p.Gly1090_Ser1093del) rs1554202991
NM_138694.4(PKHD1):c.3289C>T (p.Pro1097Ser)
NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe) rs769085607
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.3406T>A (p.Tyr1136Asn)
NM_138694.4(PKHD1):c.3410C>T (p.Thr1137Met)
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn) rs1192156901
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) rs878855202
NM_138694.4(PKHD1):c.3545G>C (p.Ser1182Thr)
NM_138694.4(PKHD1):c.3631G>A (p.Gly1211Arg)
NM_138694.4(PKHD1):c.3637A>T (p.Ile1213Phe)
NM_138694.4(PKHD1):c.3643A>G (p.Ser1215Gly) rs752105357
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) rs1581815094
NM_138694.4(PKHD1):c.3695T>G (p.Val1232Gly)
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser) rs1802145665
NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe) rs542983527
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3734C>T (p.Ala1245Val) rs140815495
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.3920A>T (p.Gln1307Leu)
NM_138694.4(PKHD1):c.402G>A (p.Ala134=) rs200992930
NM_138694.4(PKHD1):c.4091A>G (p.Tyr1364Cys)
NM_138694.4(PKHD1):c.40C>G (p.Leu14Val)
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr) rs1178166648
NM_138694.4(PKHD1):c.4142T>G (p.Val1381Gly)
NM_138694.4(PKHD1):c.415G>A (p.Val139Ile)
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=) rs1802043497
NM_138694.4(PKHD1):c.4168C>G (p.Arg1390Gly)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4212G>C (p.Gly1404=) rs751984319
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) rs1562166222
NM_138694.4(PKHD1):c.4244A>T (p.Asn1415Ile)
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) rs565836750
NM_138694.4(PKHD1):c.4304G>A (p.Ser1435Asn) rs138242579
NM_138694.4(PKHD1):c.4314C>A (p.Asp1438Glu)
NM_138694.4(PKHD1):c.4363_4364delinsAA (p.Ala1455Asn) rs2128144041
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.4459G>C (p.Val1487Leu)
NM_138694.4(PKHD1):c.4463T>C (p.Met1488Thr) rs1801992008
NM_138694.4(PKHD1):c.4465G>C (p.Asp1489His)
NM_138694.4(PKHD1):c.4477A>C (p.Thr1493Pro) rs745429712
NM_138694.4(PKHD1):c.4489G>A (p.Gly1497Arg)
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu) rs1581806804
NM_138694.4(PKHD1):c.454C>G (p.Leu152Val) rs2128234015
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del) rs1554198521
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser)
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile) rs1197981811
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val) rs1562162277
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala)
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg)
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) rs932913425
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro)
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
NM_138694.4(PKHD1):c.5012C>G (p.Thr1671Ser) rs1313759171
NM_138694.4(PKHD1):c.5023G>A (p.Ala1675Thr) rs1801889887
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys)
NM_138694.4(PKHD1):c.50C>T (p.Ala17Val)
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys)
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val)
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met) rs1201402132
NM_138694.4(PKHD1):c.5273C>T (p.Ala1758Val)
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.534G>A (p.Val178=) rs1226545035
NM_138694.4(PKHD1):c.5356A>G (p.Ser1786Gly)
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5372C>A (p.Pro1791His) rs886042677
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5381-9T>G rs1332944383
NM_138694.4(PKHD1):c.5381T>C (p.Val1794Ala) rs780643984
NM_138694.4(PKHD1):c.5410C>T (p.Arg1804Cys) rs201906247
NM_138694.4(PKHD1):c.5411G>T (p.Arg1804Leu)
NM_138694.4(PKHD1):c.5415GGA[1] (p.Glu1806del) rs1554194551
NM_138694.4(PKHD1):c.5425T>G (p.Cys1809Gly) rs1800745753
NM_138694.4(PKHD1):c.5426G>A (p.Cys1809Tyr) rs1800745257
NM_138694.4(PKHD1):c.5440C>T (p.His1814Tyr) rs1800742665
NM_138694.4(PKHD1):c.5473A>G (p.Met1825Val)
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5480C>T (p.Thr1827Ile)
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu) rs1562140096
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5599A>G (p.Ser1867Gly)
NM_138694.4(PKHD1):c.5600+6T>C rs1800710573
NM_138694.4(PKHD1):c.5641_5649del (p.Ser1881_Asn1883del) rs1554191359
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr) rs864622533
NM_138694.4(PKHD1):c.5660A>C (p.Glu1887Ala)
NM_138694.4(PKHD1):c.5680T>A (p.Cys1894Ser) rs2128117206
NM_138694.4(PKHD1):c.5687C>G (p.Thr1896Arg)
NM_138694.4(PKHD1):c.5693A>G (p.Asn1898Ser)
NM_138694.4(PKHD1):c.5708T>C (p.Val1903Ala)
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys) rs1791759592
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5801G>T (p.Trp1934Leu)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5862_5864del (p.Leu1956del) rs1554162788
NM_138694.4(PKHD1):c.5885T>G (p.Ile1962Ser) rs756573585
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5959G>T (p.Ala1987Ser) rs375949362
NM_138694.4(PKHD1):c.5977G>T (p.Gly1993Cys)
NM_138694.4(PKHD1):c.5989C>T (p.Arg1997Trp)
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.5996G>C (p.Gly1999Ala) rs2127768810
NM_138694.4(PKHD1):c.601T>G (p.Cys201Gly) rs1810703881
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6050C>G (p.Ser2017Cys) rs1787094080
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
NM_138694.4(PKHD1):c.6122G>T (p.Gly2041Val) rs2127668227
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser) rs551783157
NM_138694.4(PKHD1):c.6170C>A (p.Ala2057Asp)
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
NM_138694.4(PKHD1):c.6226G>A (p.Val2076Ile)
NM_138694.4(PKHD1):c.6311T>G (p.Leu2104Arg)
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.6332+3A>C
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys) rs1440253606
NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)
NM_138694.4(PKHD1):c.6439_6441del (p.Asn2147del) rs1554133798
NM_138694.4(PKHD1):c.6490G>A (p.Gly2164Ser) rs147595459
NM_138694.4(PKHD1):c.6506G>A (p.Cys2169Tyr)
NM_138694.4(PKHD1):c.6580G>C (p.Glu2194Gln)
NM_138694.4(PKHD1):c.6623T>G (p.Val2208Gly)
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.6635C>G (p.Ala2212Gly)
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys) rs756450923
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6691A>G (p.Ile2231Val) rs2127637295
NM_138694.4(PKHD1):c.6730C>G (p.Leu2244Val)
NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg) rs749690371
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=) rs368194577
NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys) rs1315333212
NM_138694.4(PKHD1):c.6777C>G (p.Phe2259Leu)
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.6866-5A>G rs886061617
NM_138694.4(PKHD1):c.6869G>T (p.Trp2290Leu)
NM_138694.4(PKHD1):c.6887TAA[1] (p.Ile2297del) rs1554299250
NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp) rs2127622765
NM_138694.4(PKHD1):c.6900C>G (p.Asn2300Lys) rs776060304
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg) rs765874902
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser) rs1334374415
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) rs775831255
NM_138694.4(PKHD1):c.6997-5T>C rs1422813423
NM_138694.4(PKHD1):c.700A>G (p.Lys234Glu) rs2128229167
NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg) rs2127557145
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter) rs202223718
NM_138694.4(PKHD1):c.7103G>T (p.Cys2368Phe)
NM_138694.4(PKHD1):c.7106_7108del (p.Thr2369del) rs1554290053
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.7171C>G (p.Leu2391Val)
NM_138694.4(PKHD1):c.7172T>C (p.Leu2391Pro) rs759314898
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=) rs765985090
NM_138694.4(PKHD1):c.7180A>G (p.Ser2394Gly)
NM_138694.4(PKHD1):c.7210G>A (p.Ala2404Thr)
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.727G>T (p.Ala243Ser) rs773601448
NM_138694.4(PKHD1):c.7286T>C (p.Val2429Ala)
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7305T>G (p.Asn2435Lys)
NM_138694.4(PKHD1):c.7350+5G>A rs1554287798
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7392A>G (p.Arg2464=) rs1775822734
NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)
NM_138694.4(PKHD1):c.7429T>A (p.Phe2477Ile) rs2151777825
NM_138694.4(PKHD1):c.7450G>T (p.Ala2484Ser)
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr) rs774331743
NM_138694.4(PKHD1):c.7487-5TA[3] rs1554281310
NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp) rs769645972
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg) rs1246936197
NM_138694.4(PKHD1):c.7601A>G (p.Lys2534Arg) rs1775357730
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln) rs369677008
NM_138694.4(PKHD1):c.7673G>C (p.Arg2558Pro)
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser) rs1358906875
NM_138694.4(PKHD1):c.769A>C (p.Thr257Pro) rs778755997
NM_138694.4(PKHD1):c.7714C>G (p.His2572Asp)
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.778+3A>G
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-9dup rs886061624
NM_138694.4(PKHD1):c.7811G>A (p.Arg2604His)
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala) rs1773239517
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr) rs398124493
NM_138694.4(PKHD1):c.7849C>T (p.Leu2617Phe) rs746288867
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=) rs752563887
NM_138694.4(PKHD1):c.7867T>C (p.Tyr2623His)
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
NM_138694.4(PKHD1):c.788C>T (p.Ser263Phe)
NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile) rs2151628916
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu) rs778592523
NM_138694.4(PKHD1):c.8023T>A (p.Ser2675Thr)
NM_138694.4(PKHD1):c.8090G>C (p.Arg2697Thr)
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8110T>A (p.Ser2704Thr)
NM_138694.4(PKHD1):c.8145G>T (p.Val2715=) rs1431478120
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) rs1562410452
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser) rs749313015
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) rs1554263087
NM_138694.4(PKHD1):c.8274C>T (p.Gly2758=) rs368178645
NM_138694.4(PKHD1):c.8281G>T (p.Asp2761Tyr) rs1554263080
NM_138694.4(PKHD1):c.8282A>T (p.Asp2761Val) rs2151511198
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser) rs764600547
NM_138694.4(PKHD1):c.8332C>T (p.Pro2778Ser)
NM_138694.4(PKHD1):c.8345G>A (p.Gly2782Glu)
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8363C>G (p.Thr2788Ser) rs2151262384
NM_138694.4(PKHD1):c.8378T>C (p.Val2793Ala) rs2151262174
NM_138694.4(PKHD1):c.8393T>G (p.Val2798Gly) rs1554243589
NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile) rs1363630467
NM_138694.4(PKHD1):c.8441-5A>G rs922193595
NM_138694.4(PKHD1):c.8470C>G (p.Gln2824Glu)
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8570T>C (p.Val2857Ala) rs1790366459
NM_138694.4(PKHD1):c.8590C>G (p.Pro2864Ala)
NM_138694.4(PKHD1):c.8635A>T (p.Asn2879Tyr) rs2151137736
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp) rs886061615
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8741AAG[3] (p.Glu2915dup) rs1554221417
NM_138694.4(PKHD1):c.8789G>A (p.Arg2930Gln)
NM_138694.4(PKHD1):c.8799_8801dup (p.Gly2933_Ser2934insArg) rs781387046
NM_138694.4(PKHD1):c.8807A>G (p.His2936Arg)
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)
NM_138694.4(PKHD1):c.8885A>G (p.Asp2962Gly) rs1554220680
NM_138694.4(PKHD1):c.888A>G (p.Pro296=) rs76012218
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr) rs1786406368
NM_138694.4(PKHD1):c.8899G>A (p.Gly2967Arg)
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) rs1231976944
NM_138694.4(PKHD1):c.893A>G (p.Asp298Gly)
NM_138694.4(PKHD1):c.8989G>A (p.Gly2997Arg) rs886061614
NM_138694.4(PKHD1):c.9027G>T (p.Val3009=) rs1785566962
NM_138694.4(PKHD1):c.9044T>G (p.Ile3015Ser) rs2150987139
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
NM_138694.4(PKHD1):c.9154G>C (p.Asp3052His) rs765526
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala) rs1785533041
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu) rs1164973591
NM_138694.4(PKHD1):c.925T>C (p.Cys309Arg)
NM_138694.4(PKHD1):c.9268A>G (p.Asn3090Asp) rs1785519408
NM_138694.4(PKHD1):c.9269A>G (p.Asn3090Ser) rs1785518946
NM_138694.4(PKHD1):c.9289G>A (p.Ala3097Thr)
NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) rs749998868
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln) rs1160858819
NM_138694.4(PKHD1):c.9368C>T (p.Ala3123Val)
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)
NM_138694.4(PKHD1):c.9400A>G (p.Lys3134Glu) rs2150984204
NM_138694.4(PKHD1):c.9448T>C (p.Phe3150Leu) rs2150983802
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) rs878855204
NM_138694.4(PKHD1):c.9529A>G (p.Ile3177Val)
NM_138694.4(PKHD1):c.9544G>A (p.Val3182Ile) rs575058604
NM_138694.4(PKHD1):c.9583_9585del (p.Lys3195del) rs1554218479
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn) rs1417442108
NM_138694.4(PKHD1):c.9598C>T (p.Leu3200Phe)
NM_138694.4(PKHD1):c.9613A>C (p.Ile3205Leu)
NM_138694.4(PKHD1):c.9614T>C (p.Ile3205Thr)
NM_138694.4(PKHD1):c.961A>G (p.Thr321Ala) rs2128221798
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) rs1785450007
NM_138694.4(PKHD1):c.9693A>C (p.Arg3231Ser) rs1194740215
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu) rs2150981332
NM_138694.4(PKHD1):c.9817A>C (p.Met3273Leu) rs1562221107
NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)
NM_138694.4(PKHD1):c.9856A>T (p.Ser3286Cys) rs770299635
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138694.4(PKHD1):c.9970A>G (p.Lys3324Glu) rs1785240656
NM_138694.4(PKHD1):c.9973T>C (p.Phe3325Leu) rs199924729
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys) rs1057524563
NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His) rs532327456
NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His)
NM_139319.3(SLC17A8):c.*1140T>C rs886048795
NM_139319.3(SLC17A8):c.*1306C>T rs886048796
NM_139319.3(SLC17A8):c.*1486A>G rs886048797
NM_139319.3(SLC17A8):c.*1502T>G rs886048801
NM_139319.3(SLC17A8):c.*1587A>G rs886048802
NM_139319.3(SLC17A8):c.*1716C>T rs886048803
NM_139319.3(SLC17A8):c.*209T>C rs1056524938
NM_139319.3(SLC17A8):c.*335C>T rs886048792
NM_139319.3(SLC17A8):c.*671C>T rs1952943581
NM_139319.3(SLC17A8):c.*715A>C rs886048794
NM_139319.3(SLC17A8):c.-295C>G rs1952451063
NM_139319.3(SLC17A8):c.-311G>A rs575992309
NM_139319.3(SLC17A8):c.-72A>T rs1396619385
NM_139319.3(SLC17A8):c.-93A>G rs908755074
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) rs567965694
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) rs886048789
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) rs753249566
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) rs151213649
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) rs1952934512
NM_139319.3(SLC17A8):c.903+1G>A rs1566400632
NM_139319.3(SLC17A8):c.903+5G>A rs1408795860
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) rs763702478
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) rs886048788
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) rs1553456782
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1132-2A>G rs1295546366
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) rs1573549506
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) rs1573549506
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) rs1683302135
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) rs2104891817
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) rs1240564481
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) rs1158338100
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) rs750715069
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) rs865803817
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
NM_139343.3(BIN1):c.1472del (p.Pro491fs) rs1682848303
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) rs1682847067
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) rs1191840422
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) rs2104859449
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) rs773732601
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) rs1445898966
NM_139343.3(BIN1):c.165+1G>A
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) rs1682762039
NM_139343.3(BIN1):c.1675-2A>G
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) rs761759946
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) rs368983991
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) rs2104840053
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) rs1282156307
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) rs2104839547
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) rs1558835946
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) rs2105078067
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
NM_139343.3(BIN1):c.220+4G>A
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) rs1024658796
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) rs1685759135
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) rs1377099769
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) rs2105075896
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) rs774273606
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) rs1681237812
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) rs754932468
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) rs1685745258
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
NM_139343.3(BIN1):c.315+3G>C rs764821578
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) rs2105070437
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) rs761813363
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) rs2105069995
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
NM_139343.3(BIN1):c.411+1G>T
NM_139343.3(BIN1):c.411+5G>C
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) rs1407049344
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) rs1685516968
NM_139343.3(BIN1):c.430_432del (p.Gly144del) rs1685516331
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) rs761914168
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) rs1685511003
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) rs775374523
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
NM_139343.3(BIN1):c.519+6G>T
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) rs2105378914
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) rs2105378861
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) rs2105049284
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) rs376323215
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) rs2105378684
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) rs1684781364
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) rs761203710
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) rs771506242
NM_139343.3(BIN1):c.84+14A>T rs2105378351
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
NM_139343.3(BIN1):c.84+6C>A
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) rs1681229622
NM_139343.3(BIN1):c.857+4C>G
NM_139343.3(BIN1):c.857+5G>A
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) rs2104954121
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) rs1462533329
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) rs1259572705
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) rs199551366
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) rs769801396
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) rs769801396
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) rs558639756
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser) rs1385022544
NM_144498.4(OSBPL2):c.888_890delinsATG (p.Phe296_Met297delinsLeuTrp) rs2145970580
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613
NM_144508.5(KNL1):c.-100C>G rs1415161457
NM_144508.5(KNL1):c.-13G>T rs747274892
NM_144508.5(KNL1):c.-143G>A rs886051137
NM_144508.5(KNL1):c.10G>T (p.Val4Leu) rs202140477
NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)
NM_144508.5(KNL1):c.1789A>G (p.Ser597Gly) rs1250355220
NM_144508.5(KNL1):c.2014A>G (p.Ile672Val) rs73394756
NM_144508.5(KNL1):c.2162C>A (p.Thr721Lys) rs1242537735
NM_144508.5(KNL1):c.220A>T (p.Met74Leu)
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) rs1892588636
NM_144508.5(KNL1):c.2963T>A (p.Val988Glu) rs886051138
NM_144508.5(KNL1):c.3200G>A (p.Ser1067Asn) rs1322821302
NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val) rs753156438
NM_144508.5(KNL1):c.4483A>C (p.Ser1495Arg) rs781736494
NM_144508.5(KNL1):c.4817A>T (p.His1606Leu) rs886051140
NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp) rs886051141
NM_144508.5(KNL1):c.5391T>A (p.His1797Gln) rs1892804502
NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn) rs886051142
NM_144508.5(KNL1):c.5463C>G (p.Cys1821Trp)
NM_144508.5(KNL1):c.5560A>G (p.Ile1854Val) rs1892818549
NM_144508.5(KNL1):c.5890-14A>C rs1893362042
NM_144508.5(KNL1):c.6392C>T (p.Thr2131Ile) rs1893582619
NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)
NM_144596.4(TTC8):c.*17A>G rs1164204068
NM_144596.4(TTC8):c.*377C>T rs1395639006
NM_144596.4(TTC8):c.*418G>A rs2094963356
NM_144596.4(TTC8):c.*45A>C rs1273103151
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1022A>G (p.Gln341Arg) rs2094927980
NM_144596.4(TTC8):c.1026A>G (p.Pro342=)
NM_144596.4(TTC8):c.1033G>A (p.Ala345Thr)
NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)
NM_144596.4(TTC8):c.104C>A (p.Pro35His) rs2094691079
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser) rs2094933981
NM_144596.4(TTC8):c.1069A>G (p.Ile357Val)
NM_144596.4(TTC8):c.1073A>T (p.Tyr358Phe) rs951491897
NM_144596.4(TTC8):c.1084C>G (p.Leu362Val) rs2094934211
NM_144596.4(TTC8):c.1102C>T (p.Leu368=)
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp) rs768465465
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg) rs1224545398
NM_144596.4(TTC8):c.114+5C>T
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu) rs2094934479
NM_144596.4(TTC8):c.114G>T (p.Gln38His) rs2094691170
NM_144596.4(TTC8):c.1154G>A (p.Arg385His)
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp) rs1375783683
NM_144596.4(TTC8):c.1214A>G (p.His405Arg)
NM_144596.4(TTC8):c.1234G>T (p.Asp412Tyr)
NM_144596.4(TTC8):c.1237A>C (p.Thr413Pro)
NM_144596.4(TTC8):c.1276AAC[3] (p.Asn429del) rs750442302
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup) rs750442302
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
NM_144596.4(TTC8):c.1285A>C (p.Asn429His)
NM_144596.4(TTC8):c.1324A>G (p.Met442Val) rs1259630992
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
NM_144596.4(TTC8):c.1360T>G (p.Leu454Val)
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu) rs773278542
NM_144596.4(TTC8):c.1385C>G (p.Pro462Arg) rs2141044395
NM_144596.4(TTC8):c.1388A>T (p.His463Leu) rs2141044398
NM_144596.4(TTC8):c.1394A>G (p.Tyr465Cys)
NM_144596.4(TTC8):c.1418C>T (p.Thr473Ile) rs762313028
NM_144596.4(TTC8):c.1423T>A (p.Ser475Thr) rs2141044512
NM_144596.4(TTC8):c.1424C>T (p.Ser475Phe)
NM_144596.4(TTC8):c.1431+1G>T rs779743153
NM_144596.4(TTC8):c.1431+3A>G rs2094951653
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe) rs753441040
NM_144596.4(TTC8):c.1441C>A (p.Leu481Met)
NM_144596.4(TTC8):c.1465C>T (p.Gln489Ter)
NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.1495G>A (p.Val499Met) rs538188579
NM_144596.4(TTC8):c.1542G>T (p.Met514Ile) rs571571526
NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
NM_144596.4(TTC8):c.183G>A (p.Met61Ile)
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn) rs2094769718
NM_144596.4(TTC8):c.1A>G (p.Met1Val) rs747906724
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
NM_144596.4(TTC8):c.221T>C (p.Ile74Thr) rs2094769961
NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)
NM_144596.4(TTC8):c.250A>G (p.Ile84Val)
NM_144596.4(TTC8):c.265+5G>A rs2094770219
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu) rs1566836961
NM_144596.4(TTC8):c.2T>C (p.Met1Thr) rs776086794
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) rs1341297017
NM_144596.4(TTC8):c.311G>A (p.Gly104Glu)
NM_144596.4(TTC8):c.313C>T (p.Pro105Ser) rs2094777358
NM_144596.4(TTC8):c.329+4T>C
NM_144596.4(TTC8):c.332C>T (p.Pro111Leu) rs2094778322
NM_144596.4(TTC8):c.336C>G (p.Ile112Met) rs2140976682
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
NM_144596.4(TTC8):c.34T>G (p.Trp12Gly) rs2140944058
NM_144596.4(TTC8):c.370A>G (p.Arg124Gly)
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys) rs369803125
NM_144596.4(TTC8):c.380C>T (p.Thr127Met) rs369803125
NM_144596.4(TTC8):c.383A>C (p.Gln128Pro) rs2140976838
NM_144596.4(TTC8):c.384G>C (p.Gln128His)
NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)
NM_144596.4(TTC8):c.410A>G (p.Gln137Arg) rs1337021580
NM_144596.4(TTC8):c.415A>C (p.Ile139Leu) rs766062841
NM_144596.4(TTC8):c.417C>G (p.Ile139Met) rs2094779029
NM_144596.4(TTC8):c.418A>G (p.Arg140Gly) rs2140976960
NM_144596.4(TTC8):c.422C>A (p.Thr141Lys)
NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)
NM_144596.4(TTC8):c.429A>C (p.Arg143Ser) rs1472731626
NM_144596.4(TTC8):c.430A>C (p.Thr144Pro)
NM_144596.4(TTC8):c.446G>T (p.Arg149Leu) rs768271175
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr) rs754686957
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr) rs184952059
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
NM_144596.4(TTC8):c.509C>T (p.Pro170Leu) rs1006330985
NM_144596.4(TTC8):c.512A>G (p.Asp171Gly)
NM_144596.4(TTC8):c.514G>A (p.Gly172Arg)
NM_144596.4(TTC8):c.517C>T (p.Pro173Ser) rs2140977797
NM_144596.4(TTC8):c.531A>T (p.Leu177Phe)
NM_144596.4(TTC8):c.573G>C (p.Leu191Phe)
NM_144596.4(TTC8):c.589G>C (p.Glu197Gln)
NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)
NM_144596.4(TTC8):c.602A>G (p.His201Arg) rs1328638709
NM_144596.4(TTC8):c.616G>A (p.Val206Ile)
NM_144596.4(TTC8):c.616_618del (p.Val206del) rs1411331191
NM_144596.4(TTC8):c.62A>G (p.Gln21Arg) rs2094690662
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu) rs2094690662
NM_144596.4(TTC8):c.630G>T (p.Leu210Phe) rs2094839899
NM_144596.4(TTC8):c.659C>T (p.Ser220Phe) rs2094840063
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
NM_144596.4(TTC8):c.665A>G (p.Tyr222Cys) rs1257221355
NM_144596.4(TTC8):c.676T>C (p.Trp226Arg) rs2140999509
NM_144596.4(TTC8):c.700T>A (p.Cys234Ser)
NM_144596.4(TTC8):c.704A>G (p.Tyr235Cys) rs1445461942
NM_144596.4(TTC8):c.710+4A>C rs1352481954
NM_144596.4(TTC8):c.714G>A (p.Leu238=) rs1435283670
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg) rs374351698
NM_144596.4(TTC8):c.720G>A (p.Met240Ile) rs1051402043
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr) rs772967779
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_144596.4(TTC8):c.749C>T (p.Ser250Leu) rs943156593
NM_144596.4(TTC8):c.758A>G (p.Lys253Arg)
NM_144596.4(TTC8):c.776A>T (p.Asp259Val) rs2141007421
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro) rs1459496188
NM_144596.4(TTC8):c.785T>G (p.Leu262Arg)
NM_144596.4(TTC8):c.798+256T>C
NM_144596.4(TTC8):c.79T>C (p.Cys27Arg) rs2094690812
NM_144596.4(TTC8):c.814G>A (p.Asp272Asn)
NM_144596.4(TTC8):c.816T>A (p.Asp272Glu)
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys) rs1169043172
NM_144596.4(TTC8):c.857A>G (p.Asp286Gly)
NM_144596.4(TTC8):c.865C>T (p.Pro289Ser) rs2141016153
NM_144596.4(TTC8):c.872A>G (p.Glu291Gly)
NM_144596.4(TTC8):c.878C>A (p.Thr293Asn) rs1028407834
NM_144596.4(TTC8):c.890G>A (p.Gly297Glu)
NM_144596.4(TTC8):c.8C>G (p.Ser3Trp) rs752229926
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu) rs752229926
NM_144596.4(TTC8):c.903C>G (p.Ile301Met)
NM_144596.4(TTC8):c.910-6G>A
NM_144596.4(TTC8):c.923T>C (p.Met308Thr) rs2094927396
NM_144596.4(TTC8):c.935C>A (p.Ala312Glu) rs1010519307
NM_144596.4(TTC8):c.943T>G (p.Tyr315Asp) rs2094927520
NM_144596.4(TTC8):c.949G>A (p.Glu317Lys)
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn) rs2094927630
NM_144596.4(TTC8):c.976G>T (p.Val326Leu)
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153
NM_144628.4(TBC1D20):c.407G>A (p.Arg136His)
NM_144628.4(TBC1D20):c.874A>G (p.Ile292Val) rs374330245
NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro)
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_144672.4(OTOA):c.1348A>G (p.Met450Val) rs2141697579
NM_144672.4(OTOA):c.1792C>G (p.Leu598Val) rs765408935
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) rs1567391195
NM_144672.4(OTOA):c.774A>C (p.Leu258Phe) rs2141672622
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) rs372826296
NM_144709.4(PUS10):c.-16+142G>A
NM_144709.4(PUS10):c.-16+260C>T rs886056195
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)
NM_144969.3(ZDHHC15):c.448A>G (p.Met150Val)
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) rs138031432
NM_144992.5(VWA3B):c.2951A>C (p.Glu984Ala)
NM_144992.5(VWA3B):c.3068C>G (p.Pro1023Arg) rs779799210
NM_145309.6(LRRC51):c.-140+1G>T rs1565309133
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413
NM_145702.4(TIGD1):c.*1799G>A rs72991940
NM_145702.4(TIGD1):c.*2100G>C rs1044726391
NM_145702.4(TIGD1):c.*2210A>G rs944288485
NM_145702.4(TIGD1):c.*3743AG[2] rs3217418
NM_145861.4(EDARADD):c.*1012A>G rs572366811
NM_145861.4(EDARADD):c.*115A>G rs886046188
NM_145861.4(EDARADD):c.*1262C>T rs956560100
NM_145861.4(EDARADD):c.*1723G>A rs940030231
NM_145861.4(EDARADD):c.*1788G>A rs1053380939
NM_145861.4(EDARADD):c.*1962C>T rs111987152
NM_145861.4(EDARADD):c.*2018C>G rs886046198
NM_145861.4(EDARADD):c.*354G>C rs886046190
NM_145861.4(EDARADD):c.*558C>T rs1309549108
NM_145861.4(EDARADD):c.*586T>C rs886046191
NM_145861.4(EDARADD):c.*746G>T rs745456566
NM_145861.4(EDARADD):c.*971C>T rs886046193
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.220-15C>T rs886046185
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile) rs886046186
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) rs2103042601
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) rs1659704734
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) rs2103042663
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu) rs375789023
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
NM_147127.5(EVC2):c.*105C>T rs1722029883
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.-29C>A rs754218861
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1079T>A (p.Leu360His) rs774401542
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del) rs1553846622
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn) rs1553840668
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp) rs1553840593
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp) rs1717255624
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del) rs1553855096
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del) rs1553833065
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del) rs1553832710
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr) rs750392808
NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del) rs775393091
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del) rs774915706
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro) rs1722937250
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr) rs182888222
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) rs150215092
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro) rs1722816787
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del) rs1553813318
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del) rs1227016096
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3659+3A>C
NM_147127.5(EVC2):c.3659+3A>G
NM_147127.5(EVC2):c.3659+5T>C rs1722200321
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val) rs894829697
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3863del (p.Pro1288fs) rs1553811729
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val) rs1722037682
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys) rs1721325369
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.555A>G (p.Ile185Met) rs2151731889
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg) rs1342830628
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly) rs1720323516
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys) rs144730069
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del) rs1553855115
NM_147196.3(TMIE):c.*719G>A rs558232024
NM_147196.3(TMIE):c.*803C>T rs1700608339
NM_147196.3(TMIE):c.*94A>C rs1700598410
NM_147196.3(TMIE):c.*974C>T rs971138956
NM_147196.3(TMIE):c.144A>G (p.Thr48=) rs886058573
NM_147196.3(TMIE):c.148G>T (p.Val50Leu) rs567795032
NM_148919.4(PSMB8):c.*116C>T rs56138642
NM_148919.4(PSMB8):c.-35C>T rs886061311
NM_148919.4(PSMB8):c.103T>G (p.Phe35Val)
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser) rs780017925
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr) rs776484021
NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg)
NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg)
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile) rs2127380153
NM_148919.4(PSMB8):c.148-10_148-6del rs1562352647
NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro) rs2127378839
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) rs886061310
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) rs1562352512
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro) rs1770032427
NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys) rs1770030436
NM_148919.4(PSMB8):c.212A>G (p.His71Arg)
NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile)
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val) rs1770128124
NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro)
NM_148919.4(PSMB8):c.284G>T (p.Gly95Val)
NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr)
NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser) rs753139724
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) rs1381795628
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met) rs371826956
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr) rs1769997640
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr) rs1769996135
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val) rs1770125566
NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp) rs2127378014
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) rs1769994178
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) rs369078226
NM_148919.4(PSMB8):c.408G>A (p.Arg136=)
NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys) rs1769955269
NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr) rs756049842
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val) rs1582605795
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) rs1769920763
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys) rs1012282076
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg) rs1202502842
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)
NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)
NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)
NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) rs1554238810
NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg) rs2127376068
NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser) rs2127376054
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val) rs200995701
NM_148919.4(PSMB8):c.743-5C>T
NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)
NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu) rs2127375356
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) rs1554238585
NM_148919.4(PSMB8):c.807C>A (p.His269Gln)
NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)
NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)
NM_148919.4(PSMB8):c.97T>C (p.Tyr33His)
NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val) rs2127380594
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg) rs2105304403
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr) rs1683411036
NM_152384.3(BBS5):c.142+3G>T rs2105291754
NM_152384.3(BBS5):c.17C>A (p.Ala6Glu)
NM_152384.3(BBS5):c.17C>T (p.Ala6Val) rs1307558837
NM_152384.3(BBS5):c.208+5G>T rs745646726
NM_152384.3(BBS5):c.209-9G>A
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.24G>C (p.Trp8Cys)
NM_152384.3(BBS5):c.258+5G>A
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.25G>A (p.Glu9Lys) rs1363954560
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln) rs1363954560
NM_152384.3(BBS5):c.283C>G (p.Leu95Val)
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys) rs764755791
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu) rs1683516352
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala) rs1683516352
NM_152384.3(BBS5):c.34G>A (p.Asp12Asn)
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile) rs74271896
NM_152384.3(BBS5):c.387-3T>C
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg) rs1214512447
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)
NM_152384.3(BBS5):c.479T>C (p.Val160Ala)
NM_152384.3(BBS5):c.47A>T (p.Asp16Val)
NM_152384.3(BBS5):c.522+4T>C rs2105297829
NM_152384.3(BBS5):c.523-10T>C
NM_152384.3(BBS5):c.523-20C>G rs2105298167
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile) rs1272114286
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.59+5G>A rs2105290053
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly) rs2105298246
NM_152384.3(BBS5):c.603A>G (p.Ile201Met)
NM_152384.3(BBS5):c.607T>C (p.Tyr203His)
NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)
NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)
NM_152384.3(BBS5):c.649G>A (p.Gly217Ser) rs1427534237
NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)
NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)
NM_152384.3(BBS5):c.674C>G (p.Ser225Cys) rs776533440
NM_152384.3(BBS5):c.682-1G>A
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu) rs1683759336
NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)
NM_152384.3(BBS5):c.740T>G (p.Val247Gly)
NM_152384.3(BBS5):c.748A>C (p.Ile250Leu) rs2105301621
NM_152384.3(BBS5):c.752A>G (p.Asn251Ser) rs779916920
NM_152384.3(BBS5):c.764A>G (p.Lys255Arg) rs2105301646
NM_152384.3(BBS5):c.776C>T (p.Ala259Val) rs1246115410
NM_152384.3(BBS5):c.788T>C (p.Phe263Ser) rs969475017
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg) rs2105301667
NM_152384.3(BBS5):c.791G>T (p.Gly264Val) rs1574342816
NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu) rs763705177
NM_152384.3(BBS5):c.817-10T>A rs1683838280
NM_152384.3(BBS5):c.839C>A (p.Thr280Lys) rs1683839253
NM_152384.3(BBS5):c.875C>G (p.Ser292Cys) rs2105303568
NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)
NM_152384.3(BBS5):c.890A>T (p.Asp297Val)
NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)
NM_152384.3(BBS5):c.902C>T (p.Ala301Val) rs2105304210
NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr) rs1683861388
NM_152384.3(BBS5):c.925-3A>G rs2105304333
NM_152384.3(BBS5):c.925-4A>G
NM_152384.3(BBS5):c.977_978del (p.Lys326fs) rs2105304387
NM_152443.3(RDH12):c.*1C>G rs2038317945
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+5G>A rs2038164046
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del) rs754556714
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
NM_152443.3(RDH12):c.540T>G (p.Ile180Met) rs778933833
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr) rs1374822427
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly) rs146653515
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro) rs998898101
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe) rs1185491186
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg) rs770465995
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu) rs770465995
NM_152443.3(RDH12):c.771G>A (p.Thr257=) rs1035808739
NM_152443.3(RDH12):c.878G>T (p.Arg293Met) rs746131696
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer) rs751867784
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly) rs760613076
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*582G>T rs182880657
NM_152618.3(BBS12):c.*828A>C rs749924505
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.*859T>A rs886059062
NM_152618.3(BBS12):c.*860G>A rs1800965519
NM_152618.3(BBS12):c.*907T>C rs1800966295
NM_152618.3(BBS12):c.-102C>T rs1578483694
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys) rs1800906037
NM_152618.3(BBS12):c.1007C>A (p.Thr336Asn)
NM_152618.3(BBS12):c.1009G>A (p.Val337Ile) rs1800906327
NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del) rs1553941372
NM_152618.3(BBS12):c.102ATC[1] (p.Ser36del) rs2150735886
NM_152618.3(BBS12):c.1030C>G (p.Pro344Ala)
NM_152618.3(BBS12):c.1036A>T (p.Ile346Phe)
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr) rs1553941373
NM_152618.3(BBS12):c.1042G>A (p.Glu348Lys)
NM_152618.3(BBS12):c.107C>T (p.Ser36Phe)
NM_152618.3(BBS12):c.1095G>T (p.Glu365Asp)
NM_152618.3(BBS12):c.10G>T (p.Ala4Ser)
NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter) rs1560707645
NM_152618.3(BBS12):c.110A>G (p.Lys37Arg)
NM_152618.3(BBS12):c.1148A>G (p.Asp383Gly) rs1388311562
NM_152618.3(BBS12):c.1155G>A (p.Met385Ile) rs1800911609
NM_152618.3(BBS12):c.1166A>G (p.Glu389Gly) rs374270431
NM_152618.3(BBS12):c.1213A>C (p.Ile405Leu)
NM_152618.3(BBS12):c.1227G>A (p.Val409=) rs1800914880
NM_152618.3(BBS12):c.1258G>A (p.Glu420Lys)
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys) rs199596849
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1279A>G (p.Ile427Val)
NM_152618.3(BBS12):c.1281A>G (p.Ile427Met)
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.1303G>T (p.Gly435Cys)
NM_152618.3(BBS12):c.1310T>C (p.Val437Ala) rs2150737136
NM_152618.3(BBS12):c.1343C>T (p.Ala448Val)
NM_152618.3(BBS12):c.1345G>A (p.Ala449Thr) rs767887679
NM_152618.3(BBS12):c.1352C>A (p.Ala451Glu) rs2150737180
NM_152618.3(BBS12):c.1372A>C (p.Thr458Pro)
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser) rs1800919857
NM_152618.3(BBS12):c.1393G>T (p.Val465Leu) rs1409837279
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1405G>A (p.Val469Ile) rs756359668
NM_152618.3(BBS12):c.1411G>T (p.Val471Leu) rs140675688
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del) rs1553941469
NM_152618.3(BBS12):c.143T>C (p.Val48Ala) rs1800881705
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1466C>G (p.Ala489Gly) rs2150737356
NM_152618.3(BBS12):c.1486G>A (p.Gly496Arg)
NM_152618.3(BBS12):c.1487G>C (p.Gly496Ala)
NM_152618.3(BBS12):c.1507G>A (p.Val503Met) rs374865012
NM_152618.3(BBS12):c.1513A>G (p.Thr505Ala)
NM_152618.3(BBS12):c.1528G>A (p.Ala510Thr)
NM_152618.3(BBS12):c.1549G>A (p.Asp517Asn) rs2150737447
NM_152618.3(BBS12):c.1573C>A (p.Arg525Ser) rs760420127
NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser) rs1560708457
NM_152618.3(BBS12):c.158C>T (p.Thr53Ile)
NM_152618.3(BBS12):c.1596G>C (p.Glu532Asp) rs1477880509
NM_152618.3(BBS12):c.1604T>C (p.Val535Ala)
NM_152618.3(BBS12):c.1606T>C (p.Phe536Leu)
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.1652A>T (p.His551Leu) rs1174030927
NM_152618.3(BBS12):c.1653T>G (p.His551Gln) rs1800929267
NM_152618.3(BBS12):c.1658T>C (p.Leu553Pro)
NM_152618.3(BBS12):c.165G>C (p.Arg55Ser)
NM_152618.3(BBS12):c.1673T>A (p.Leu558Gln) rs2150737612
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1687C>G (p.His563Asp)
NM_152618.3(BBS12):c.1696T>C (p.Ser566Pro)
NM_152618.3(BBS12):c.1698A>G (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1702T>C (p.Trp568Arg)
NM_152618.3(BBS12):c.1709A>C (p.His570Pro)
NM_152618.3(BBS12):c.1742C>T (p.Ala581Val) rs2150737702
NM_152618.3(BBS12):c.1756A>G (p.Thr586Ala)
NM_152618.3(BBS12):c.1767A>G (p.Lys589=) rs2150737724
NM_152618.3(BBS12):c.1793A>G (p.Tyr598Cys)
NM_152618.3(BBS12):c.1811A>G (p.Tyr604Cys)
NM_152618.3(BBS12):c.1817C>G (p.Thr606Ser)
NM_152618.3(BBS12):c.1840G>C (p.Glu614Gln) rs1800934088
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp) rs17857451
NM_152618.3(BBS12):c.1853A>G (p.Tyr618Cys)
NM_152618.3(BBS12):c.1855A>G (p.Ile619Val)
NM_152618.3(BBS12):c.1861C>T (p.His621Tyr) rs1800935119
NM_152618.3(BBS12):c.1864C>G (p.His622Asp)
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1936A>G (p.Arg646Gly)
NM_152618.3(BBS12):c.1945A>T (p.Asn649Tyr) rs2150737920
NM_152618.3(BBS12):c.1951G>A (p.Asp651Asn)
NM_152618.3(BBS12):c.1966C>A (p.Leu656Met) rs1800940804
NM_152618.3(BBS12):c.1970A>C (p.Glu657Ala) rs1800940912
NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
NM_152618.3(BBS12):c.19G>A (p.Val7Ile) rs1464814059
NM_152618.3(BBS12):c.2011G>A (p.Glu671Lys)
NM_152618.3(BBS12):c.2019G>T (p.Trp673Cys)
NM_152618.3(BBS12):c.2037A>C (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2038_2039delinsAA (p.Val680Lys)
NM_152618.3(BBS12):c.2045T>C (p.Leu682Ser) rs2150738089
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly) rs1337705311
NM_152618.3(BBS12):c.2074dup (p.Thr692fs) rs1553941623
NM_152618.3(BBS12):c.2096T>A (p.Ile699Lys) rs762266326
NM_152618.3(BBS12):c.2099A>G (p.Asn700Ser) rs1800945725
NM_152618.3(BBS12):c.2117G>A (p.Gly706Asp) rs759180956
NM_152618.3(BBS12):c.2126T>G (p.Phe709Cys)
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.227C>T (p.Ala76Val)
NM_152618.3(BBS12):c.22G>A (p.Val8Ile)
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
NM_152618.3(BBS12):c.259A>G (p.Thr87Ala)
NM_152618.3(BBS12):c.274G>A (p.Val92Ile) rs973844350
NM_152618.3(BBS12):c.277G>A (p.Gly93Ser)
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29A>G (p.Lys10Arg)
NM_152618.3(BBS12):c.29_31del (p.Lys10del) rs1553941158
NM_152618.3(BBS12):c.2T>C (p.Met1Thr) rs1553941150
NM_152618.3(BBS12):c.2dup (p.Met1fs) rs1560706193
NM_152618.3(BBS12):c.310C>T (p.His104Tyr) rs1472737770
NM_152618.3(BBS12):c.313C>T (p.Leu105Phe)
NM_152618.3(BBS12):c.317G>T (p.Gly106Val)
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.336A>G (p.Ile112Met)
NM_152618.3(BBS12):c.343_345del (p.Val115del) rs1553941232
NM_152618.3(BBS12):c.347T>A (p.Met116Lys)
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp) rs2150736114
NM_152618.3(BBS12):c.368G>A (p.Cys123Tyr)
NM_152618.3(BBS12):c.388C>A (p.Leu130Ile)
NM_152618.3(BBS12):c.400G>T (p.Val134Phe) rs1467415217
NM_152618.3(BBS12):c.428_429delinsAT (p.Ser143Asn)
NM_152618.3(BBS12):c.42G>A (p.Met14Ile)
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu) rs1800890314
NM_152618.3(BBS12):c.436A>T (p.Thr146Ser) rs1800890438
NM_152618.3(BBS12):c.437C>T (p.Thr146Ile) rs2150736213
NM_152618.3(BBS12):c.521A>G (p.His174Arg)
NM_152618.3(BBS12):c.523G>T (p.Gly175Cys)
NM_152618.3(BBS12):c.547A>C (p.Thr183Pro)
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg) rs994493028
NM_152618.3(BBS12):c.577C>A (p.Pro193Thr) rs1246383248
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile) rs200300023
NM_152618.3(BBS12):c.626A>G (p.Asp209Gly) rs1472424724
NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del) rs1553941287
NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr) rs879118135
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.706C>T (p.His236Tyr)
NM_152618.3(BBS12):c.709T>C (p.Phe237Leu)
NM_152618.3(BBS12):c.719C>T (p.Thr240Ile) rs140537219
NM_152618.3(BBS12):c.724A>G (p.Asn242Asp) rs2150736461
NM_152618.3(BBS12):c.725A>G (p.Asn242Ser) rs2150736463
NM_152618.3(BBS12):c.73A>G (p.Thr25Ala) rs2150735856
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala) rs758191621
NM_152618.3(BBS12):c.745C>T (p.Pro249Ser) rs758191621
NM_152618.3(BBS12):c.758A>C (p.Gln253Pro)
NM_152618.3(BBS12):c.758A>G (p.Gln253Arg)
NM_152618.3(BBS12):c.763C>G (p.His255Asp) rs2150736491
NM_152618.3(BBS12):c.76G>A (p.Gly26Arg)
NM_152618.3(BBS12):c.805G>A (p.Val269Ile) rs2150736540
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp) rs774510452
NM_152618.3(BBS12):c.847A>G (p.Met283Val) rs1173472896
NM_152618.3(BBS12):c.854TAG[1] (p.Val286del)
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.863A>C (p.Glu288Ala)
NM_152618.3(BBS12):c.896T>A (p.Val299Glu)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.911G>A (p.Cys304Tyr)
NM_152618.3(BBS12):c.911G>C (p.Cys304Ser)
NM_152618.3(BBS12):c.961C>G (p.Pro321Ala) rs2150736703
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
NM_152618.3(BBS12):c.97C>A (p.Leu33Ile)
NM_152618.3(BBS12):c.994C>G (p.Pro332Ala)
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1094A>G rs1939005375
NM_153240.5(NPHP3):c.*1184A>T rs1939002888
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*178T>G rs1939035707
NM_153240.5(NPHP3):c.*626C>G rs1156702698
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1009C>T (p.His337Tyr) rs769409934
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1118G>A (p.Ser373Asn) rs1939959019
NM_153240.5(NPHP3):c.1119C>A (p.Ser373Arg)
NM_153240.5(NPHP3):c.1119C>G (p.Ser373Arg)
NM_153240.5(NPHP3):c.1129G>C (p.Glu377Gln) rs2107990706
NM_153240.5(NPHP3):c.112G>A (p.Ala38Thr) rs2108008149
NM_153240.5(NPHP3):c.1132G>T (p.Asp378Tyr) rs1939810316
NM_153240.5(NPHP3):c.1139A>T (p.Glu380Val)
NM_153240.5(NPHP3):c.1179A>T (p.Leu393Phe)
NM_153240.5(NPHP3):c.1181T>A (p.Ile394Asn) rs753749299
NM_153240.5(NPHP3):c.1211G>T (p.Ser404Ile) rs765850571
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
NM_153240.5(NPHP3):c.1243G>T (p.Val415Phe)
NM_153240.5(NPHP3):c.1288T>C (p.Ser430Pro) rs151118635
NM_153240.5(NPHP3):c.1319C>T (p.Thr440Ile)
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys) rs1939731078
NM_153240.5(NPHP3):c.1330G>A (p.Val444Ile) rs921931732
NM_153240.5(NPHP3):c.1337A>C (p.Lys446Thr)
NM_153240.5(NPHP3):c.133T>C (p.Phe45Leu)
NM_153240.5(NPHP3):c.1350+5A>G rs1422460034
NM_153240.5(NPHP3):c.1358T>G (p.Leu453Arg) rs1021022605
NM_153240.5(NPHP3):c.1360G>A (p.Gly454Ser)
NM_153240.5(NPHP3):c.1379_1380delinsCC (p.Leu460Ser) rs1939692144
NM_153240.5(NPHP3):c.1404G>T (p.Glu468Asp)
NM_153240.5(NPHP3):c.140G>T (p.Arg47Leu) rs1195739416
NM_153240.5(NPHP3):c.1420G>C (p.Glu474Gln) rs1939691135
NM_153240.5(NPHP3):c.1422A>T (p.Glu474Asp) rs2107985912
NM_153240.5(NPHP3):c.1429T>C (p.Phe477Leu)
NM_153240.5(NPHP3):c.1457A>G (p.Asp486Gly) rs1553773832
NM_153240.5(NPHP3):c.146C>G (p.Ala49Gly) rs763420553
NM_153240.5(NPHP3):c.1476A>C (p.Glu492Asp) rs371254114
NM_153240.5(NPHP3):c.1477A>G (p.Thr493Ala)
NM_153240.5(NPHP3):c.1487A>G (p.Gln496Arg) rs1939688689
NM_153240.5(NPHP3):c.14C>T (p.Ser5Leu)
NM_153240.5(NPHP3):c.1514G>C (p.Gly505Ala) rs368008794
NM_153240.5(NPHP3):c.151G>A (p.Ala51Thr)
NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu) rs1553775776
NM_153240.5(NPHP3):c.1524+11G>T rs1939687605
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His) rs1939605927
NM_153240.5(NPHP3):c.1526A>G (p.Tyr509Cys)
NM_153240.5(NPHP3):c.1534C>T (p.Arg512Cys)
NM_153240.5(NPHP3):c.1535G>A (p.Arg512His)
NM_153240.5(NPHP3):c.1541A>G (p.Asn514Ser) rs1032053554
NM_153240.5(NPHP3):c.155C>T (p.Ala52Val) rs747055547
NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del) rs766573820
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1571C>T (p.Pro524Leu) rs1309124422
NM_153240.5(NPHP3):c.160G>A (p.Gly54Arg) rs1054438148
NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu) rs1281178184
NM_153240.5(NPHP3):c.1649A>G (p.Asn550Ser)
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)
NM_153240.5(NPHP3):c.1706C>A (p.Ser569Ter) rs1240851280
NM_153240.5(NPHP3):c.170C>T (p.Pro57Leu)
NM_153240.5(NPHP3):c.1714T>C (p.Ser572Pro) rs781274734
NM_153240.5(NPHP3):c.1725T>G (p.Ile575Met)
NM_153240.5(NPHP3):c.1732C>G (p.Leu578Val) rs1939573837
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_153240.5(NPHP3):c.1736C>T (p.Thr579Ile)
NM_153240.5(NPHP3):c.1743+3A>G rs750181541
NM_153240.5(NPHP3):c.1748T>C (p.Met583Thr)
NM_153240.5(NPHP3):c.1751A>G (p.Gln584Arg) rs1939565151
NM_153240.5(NPHP3):c.1765G>A (p.Val589Ile) rs753592193
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1794G>C (p.Lys598Asn)
NM_153240.5(NPHP3):c.1814G>A (p.Arg605His) rs763388690
NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu)
NM_153240.5(NPHP3):c.1838G>A (p.Arg613His)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) rs139730838
NM_153240.5(NPHP3):c.1861G>A (p.Val621Ile)
NM_153240.5(NPHP3):c.187G>C (p.Gly63Arg) rs753458157
NM_153240.5(NPHP3):c.1887+5C>T rs1939561378
NM_153240.5(NPHP3):c.1913T>C (p.Leu638Pro) rs2107980092
NM_153240.5(NPHP3):c.1936G>T (p.Val646Leu) rs1362469132
NM_153240.5(NPHP3):c.1945A>C (p.Ile649Leu) rs1213749947
NM_153240.5(NPHP3):c.197C>T (p.Ala66Val) rs2108007880
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.1986G>C (p.Arg662Ser) rs77533254
NM_153240.5(NPHP3):c.1989G>T (p.Leu663Phe) rs1939482136
NM_153240.5(NPHP3):c.1dup (p.Met1fs) rs2108008416
NM_153240.5(NPHP3):c.2035T>G (p.Ser679Ala) rs767716649
NM_153240.5(NPHP3):c.2085G>C (p.Glu695Asp) rs553166708
NM_153240.5(NPHP3):c.2099T>G (p.Leu700Arg) rs1939465838
NM_153240.5(NPHP3):c.2105G>A (p.Arg702Gln) rs889394540
NM_153240.5(NPHP3):c.2113C>G (p.Arg705Gly) rs776393897
NM_153240.5(NPHP3):c.2119G>A (p.Ala707Thr)
NM_153240.5(NPHP3):c.2122A>G (p.Thr708Ala)
NM_153240.5(NPHP3):c.2141A>T (p.Tyr714Phe)
NM_153240.5(NPHP3):c.2161A>G (p.Met721Val)
NM_153240.5(NPHP3):c.2171+10G>A
NM_153240.5(NPHP3):c.2171+4A>G rs2107976702
NM_153240.5(NPHP3):c.2171G>A (p.Arg724His) rs1064797063
NM_153240.5(NPHP3):c.2183C>G (p.Ala728Gly) rs2107974706
NM_153240.5(NPHP3):c.2186G>A (p.Gly729Asp)
NM_153240.5(NPHP3):c.2201T>G (p.Ile734Ser)
NM_153240.5(NPHP3):c.2220G>C (p.Gln740His) rs148515364
NM_153240.5(NPHP3):c.2233C>G (p.Leu745Val)
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val) rs772613405
NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)
NM_153240.5(NPHP3):c.2320C>T (p.Leu774Phe)
NM_153240.5(NPHP3):c.2389A>G (p.Thr797Ala) rs1215241671
NM_153240.5(NPHP3):c.2397G>C (p.Leu799Phe) rs1060503157
NM_153240.5(NPHP3):c.2433G>C (p.Leu811Phe) rs1277600730
NM_153240.5(NPHP3):c.2437A>T (p.Thr813Ser) rs2107971625
NM_153240.5(NPHP3):c.2447G>A (p.Cys816Tyr) rs1939330730
NM_153240.5(NPHP3):c.2470C>G (p.Leu824Val)
NM_153240.5(NPHP3):c.2471T>A (p.Leu824Gln)
NM_153240.5(NPHP3):c.2479T>G (p.Trp827Gly)
NM_153240.5(NPHP3):c.2512C>G (p.Pro838Ala)
NM_153240.5(NPHP3):c.2518G>A (p.Val840Ile) rs138865996
NM_153240.5(NPHP3):c.2541G>T (p.Lys847Asn)
NM_153240.5(NPHP3):c.2545A>G (p.Ile849Val) rs1939290522
NM_153240.5(NPHP3):c.2546T>C (p.Ile849Thr) rs1939290471
NM_153240.5(NPHP3):c.2564A>G (p.Gln855Arg)
NM_153240.5(NPHP3):c.2582T>C (p.Val861Ala)
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr) rs886044248
NM_153240.5(NPHP3):c.265G>A (p.Ala89Thr) rs1432366479
NM_153240.5(NPHP3):c.2675C>T (p.Ser892Phe)
NM_153240.5(NPHP3):c.2692A>C (p.Arg898=)
NM_153240.5(NPHP3):c.2694-2del rs1560002537
NM_153240.5(NPHP3):c.2749G>A (p.Ala917Thr)
NM_153240.5(NPHP3):c.274G>C (p.Glu92Gln)
NM_153240.5(NPHP3):c.2756C>T (p.Ala919Val) rs2107968077
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2800G>A (p.Glu934Lys)
NM_153240.5(NPHP3):c.2813A>C (p.Asn938Thr) rs1939236897
NM_153240.5(NPHP3):c.2840A>G (p.Glu947Gly)
NM_153240.5(NPHP3):c.2857C>G (p.Leu953Val)
NM_153240.5(NPHP3):c.2879G>A (p.Ser960Asn) rs1939235108
NM_153240.5(NPHP3):c.2884G>A (p.Ala962Thr)
NM_153240.5(NPHP3):c.2889A>G (p.Ile963Met) rs2107967753
NM_153240.5(NPHP3):c.2902A>G (p.Arg968Gly)
NM_153240.5(NPHP3):c.2909T>C (p.Leu970Ser) rs2107967729
NM_153240.5(NPHP3):c.2913G>T (p.Glu971Asp)
NM_153240.5(NPHP3):c.2926G>A (p.Ala976Thr)
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu) rs903849432
NM_153240.5(NPHP3):c.293A>G (p.Tyr98Cys) rs1553775714
NM_153240.5(NPHP3):c.293A>T (p.Tyr98Phe) rs1553775714
NM_153240.5(NPHP3):c.2950G>A (p.Val984Ile)
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln) rs559425353
NM_153240.5(NPHP3):c.2995A>G (p.Lys999Glu) rs559425353
NM_153240.5(NPHP3):c.3008A>G (p.Asn1003Ser)
NM_153240.5(NPHP3):c.3023A>G (p.Tyr1008Cys) rs2107967560
NM_153240.5(NPHP3):c.3040A>T (p.Ile1014Phe) rs1939224766
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp) rs146097715
NM_153240.5(NPHP3):c.3059G>C (p.Gly1020Ala) rs146097715
NM_153240.5(NPHP3):c.307G>A (p.Val103Ile) rs567070832
NM_153240.5(NPHP3):c.3083G>A (p.Arg1028His) rs200722938
NM_153240.5(NPHP3):c.3088C>G (p.Leu1030Val)
NM_153240.5(NPHP3):c.3125+15A>G
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3126-3A>C rs1939185158
NM_153240.5(NPHP3):c.3126-6T>G rs1405952605
NM_153240.5(NPHP3):c.3128A>G (p.Tyr1043Cys)
NM_153240.5(NPHP3):c.3128A>T (p.Tyr1043Phe) rs368696653
NM_153240.5(NPHP3):c.3134A>G (p.Gln1045Arg)
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly) rs756790389
NM_153240.5(NPHP3):c.3139G>C (p.Glu1047Gln) rs1306519589
NM_153240.5(NPHP3):c.3172C>A (p.Gln1058Lys)
NM_153240.5(NPHP3):c.3181A>G (p.Ile1061Val)
NM_153240.5(NPHP3):c.3201+6G>A
NM_153240.5(NPHP3):c.3202-3C>G rs748849731
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3220C>T (p.Arg1074Cys) rs750800732
NM_153240.5(NPHP3):c.3229G>A (p.Ala1077Thr) rs753978185
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) rs141144099
NM_153240.5(NPHP3):c.328T>G (p.Leu110Val) rs369995775
NM_153240.5(NPHP3):c.3296T>G (p.Leu1099Arg)
NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)
NM_153240.5(NPHP3):c.3318A>C (p.Gln1106His) rs1161730457
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) rs369704665
NM_153240.5(NPHP3):c.3364A>G (p.Met1122Val) rs2107963463
NM_153240.5(NPHP3):c.3374G>C (p.Arg1125Pro) rs767752387
NM_153240.5(NPHP3):c.3386C>A (p.Pro1129Gln) rs1939112649
NM_153240.5(NPHP3):c.340C>T (p.Arg114Cys)
NM_153240.5(NPHP3):c.3447_3449dup (p.Gln1150dup) rs779803619
NM_153240.5(NPHP3):c.3448C>G (p.Gln1150Glu)
NM_153240.5(NPHP3):c.347A>G (p.Glu116Gly) rs2108007537
NM_153240.5(NPHP3):c.3515A>G (p.Asp1172Gly) rs2107963298
NM_153240.5(NPHP3):c.3517C>T (p.His1173Tyr) rs2107963292
NM_153240.5(NPHP3):c.353A>G (p.Lys118Arg)
NM_153240.5(NPHP3):c.3551C>T (p.Ala1184Val)
NM_153240.5(NPHP3):c.3558G>T (p.Leu1186Phe)
NM_153240.5(NPHP3):c.3560A>G (p.Tyr1187Cys)
NM_153240.5(NPHP3):c.3560A>T (p.Tyr1187Phe) rs774889708
NM_153240.5(NPHP3):c.3571-11_3571-10del
NM_153240.5(NPHP3):c.3571-3T>C
NM_153240.5(NPHP3):c.3578T>C (p.Leu1193Pro)
NM_153240.5(NPHP3):c.3584A>G (p.Lys1195Arg) rs902755372
NM_153240.5(NPHP3):c.3589G>A (p.Val1197Ile) rs1400005418
NM_153240.5(NPHP3):c.3597G>C (p.Leu1199Phe)
NM_153240.5(NPHP3):c.359A>T (p.Asp120Val)
NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr)
NM_153240.5(NPHP3):c.361A>C (p.Thr121Pro) rs747810325
NM_153240.5(NPHP3):c.362C>G (p.Thr121Arg) rs1940240950
NM_153240.5(NPHP3):c.3635G>T (p.Gly1212Val)
NM_153240.5(NPHP3):c.3656C>G (p.Ala1219Gly)
NM_153240.5(NPHP3):c.3676G>A (p.Ala1226Thr) rs2107962025
NM_153240.5(NPHP3):c.367A>T (p.Asn123Tyr)
NM_153240.5(NPHP3):c.3697-11_3697-7del rs564013823
NM_153240.5(NPHP3):c.3697-16_3697-14del
NM_153240.5(NPHP3):c.3697-3A>G rs2107961442
NM_153240.5(NPHP3):c.3697-7T>G rs777908405
NM_153240.5(NPHP3):c.3697-9T>G rs1939067062
NM_153240.5(NPHP3):c.3698A>G (p.Lys1233Arg) rs2107961440
NM_153240.5(NPHP3):c.3707_3709del (p.Val1236del)
NM_153240.5(NPHP3):c.3734C>A (p.Ala1245Glu) rs1939065629
NM_153240.5(NPHP3):c.3734C>T (p.Ala1245Val)
NM_153240.5(NPHP3):c.373C>T (p.Arg125Trp) rs1483057605
NM_153240.5(NPHP3):c.3757C>A (p.Leu1253Met)
NM_153240.5(NPHP3):c.3764G>A (p.Arg1255Gln)
NM_153240.5(NPHP3):c.3773C>A (p.Pro1258His) rs778016120
NM_153240.5(NPHP3):c.3785A>G (p.Glu1262Gly) rs1489156590
NM_153240.5(NPHP3):c.3787A>G (p.Thr1263Ala) rs1939063603
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3812+4A>T
NM_153240.5(NPHP3):c.3813-12TC[2]
NM_153240.5(NPHP3):c.3832G>C (p.Glu1278Gln) rs1472447484
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val) rs757964370
NM_153240.5(NPHP3):c.3838G>A (p.Ala1280Thr)
NM_153240.5(NPHP3):c.3841G>A (p.Ala1281Thr) rs1939044718
NM_153240.5(NPHP3):c.3857G>A (p.Arg1286Lys) rs2107960602
NM_153240.5(NPHP3):c.3858G>T (p.Arg1286Ser)
NM_153240.5(NPHP3):c.3872AAG[1] (p.Glu1292del) rs1200012206
NM_153240.5(NPHP3):c.3884C>T (p.Thr1295Ile)
NM_153240.5(NPHP3):c.389T>A (p.Leu130Gln) rs2108007468
NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)
NM_153240.5(NPHP3):c.3935C>T (p.Thr1312Met)
NM_153240.5(NPHP3):c.3959C>A (p.Ser1320Tyr) rs1350855452
NM_153240.5(NPHP3):c.3964_3966del (p.Asn1322del) rs779824626
NM_153240.5(NPHP3):c.403A>G (p.Lys135Glu) rs2108003849
NM_153240.5(NPHP3):c.40G>A (p.Glu14Lys) rs761435204
NM_153240.5(NPHP3):c.428A>G (p.Glu143Gly) rs1576688460
NM_153240.5(NPHP3):c.445G>A (p.Glu149Lys) rs1940155952
NM_153240.5(NPHP3):c.449C>G (p.Ala150Gly)
NM_153240.5(NPHP3):c.460G>C (p.Ala154Pro) rs1553775398
NM_153240.5(NPHP3):c.463A>G (p.Met155Val) rs780207607
NM_153240.5(NPHP3):c.46A>G (p.Ile16Val)
NM_153240.5(NPHP3):c.473C>T (p.Ala158Val) rs1940154883
NM_153240.5(NPHP3):c.502G>A (p.Val168Ile)
NM_153240.5(NPHP3):c.520-10C>A rs200144727
NM_153240.5(NPHP3):c.520A>T (p.Ile174Phe) rs1553775338
NM_153240.5(NPHP3):c.523T>G (p.Phe175Val)
NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)
NM_153240.5(NPHP3):c.572G>A (p.Arg191Lys)
NM_153240.5(NPHP3):c.598C>G (p.Leu200Val) rs1940132912
NM_153240.5(NPHP3):c.603G>C (p.Gln201His) rs2108002802
NM_153240.5(NPHP3):c.613A>G (p.Ile205Val) rs1940132597
NM_153240.5(NPHP3):c.625G>A (p.Asp209Asn) rs1940132320
NM_153240.5(NPHP3):c.632G>T (p.Gly211Val)
NM_153240.5(NPHP3):c.644C>T (p.Ser215Leu) rs1940131512
NM_153240.5(NPHP3):c.652A>G (p.Asn218Asp) rs2108002751
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.671-996C>G rs1042640244
NM_153240.5(NPHP3):c.727A>G (p.Ile243Val) rs1560016174
NM_153240.5(NPHP3):c.73G>T (p.Gly25Cys)
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys) rs1465502034
NM_153240.5(NPHP3):c.788T>G (p.Ile263Arg)
NM_153240.5(NPHP3):c.799G>C (p.Gly267Arg)
NM_153240.5(NPHP3):c.79G>A (p.Ala27Thr) rs2108008230
NM_153240.5(NPHP3):c.802C>T (p.Pro268Ser)
NM_153240.5(NPHP3):c.803C>A (p.Pro268His) rs1477838330
NM_153240.5(NPHP3):c.817A>G (p.Asn273Asp)
NM_153240.5(NPHP3):c.833A>G (p.Asp278Gly) rs1435611774
NM_153240.5(NPHP3):c.838G>A (p.Ala280Thr) rs2107998548
NM_153240.5(NPHP3):c.845C>G (p.Ala282Gly) rs2107998541
NM_153240.5(NPHP3):c.848G>A (p.Ser283Asn) rs549852830
NM_153240.5(NPHP3):c.851T>C (p.Leu284Ser) rs1248469945
NM_153240.5(NPHP3):c.865C>G (p.Pro289Ala) rs774133053
NM_153240.5(NPHP3):c.895A>G (p.Thr299Ala) rs1306139800
NM_153240.5(NPHP3):c.896C>G (p.Thr299Ser) rs1940015669
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153240.5(NPHP3):c.920C>T (p.Thr307Ile) rs535433647
NM_153240.5(NPHP3):c.923A>G (p.Asp308Gly) rs1940014734
NM_153240.5(NPHP3):c.957+6G>A
NM_153240.5(NPHP3):c.961T>C (p.Tyr321His)
NM_153240.5(NPHP3):c.991A>G (p.Thr331Ala) rs113091599
NM_153676.4(USH1C):c.*95C>T rs552838747
NM_153676.4(USH1C):c.-60T>G rs371444878
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1053G>C (p.Glu351Asp) rs1850407138
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1085+7A>G rs1025205332
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1]) rs1554957867
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1806del (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1806dup (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser) rs754365594
NM_153676.4(USH1C):c.1956_1957del (p.His652fs) rs766725582
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.200C>T (p.Pro67Leu) rs1850975781
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr) rs200182990
NM_153676.4(USH1C):c.2265C>G (p.Leu755=) rs151251262
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn) rs775036726
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn) rs1019237939
NM_153676.4(USH1C):c.2374C>A (p.Arg792=) rs200428926
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp) rs774005703
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys) rs371257969
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp) rs1849309216
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr) rs767655370
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser) rs1850953775
NM_153676.4(USH1C):c.405C>G (p.Val135=) rs762298047
NM_153676.4(USH1C):c.409A>G (p.Ile137Val) rs1850747142
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp) rs1850746868
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
NM_153676.4(USH1C):c.501C>T (p.Ile167=) rs1382747364
NM_153676.4(USH1C):c.514G>T (p.Val172Leu) rs748703138
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly) rs1850699098
NM_153676.4(USH1C):c.567G>T (p.Val189=) rs1850696503
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp) rs200319849
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.634G>A (p.Val212Ile) rs886048060
NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr)
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.776T>G (p.Val259Gly) rs772108970
NM_153676.4(USH1C):c.876T>C (p.Ala292=)
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp) rs574790229
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys) rs1555447608
NM_153700.2(STRC):c.2303_2313+1del rs1021413948
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153700.2(STRC):c.4765G>T (p.Val1589Phe) rs147963245
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153704.5(TMEM67):c.*1676C>T rs190176192
NM_153704.6(TMEM67):c.*1099A>G rs1808956444
NM_153704.6(TMEM67):c.*1434T>C rs886063178
NM_153704.6(TMEM67):c.*218T>C rs886063175
NM_153704.6(TMEM67):c.*25C>T rs1808912343
NM_153704.6(TMEM67):c.*300G>A rs886063176
NM_153704.6(TMEM67):c.*512T>C rs570774838
NM_153704.6(TMEM67):c.*580A>G rs995505639
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.224-3del rs587779735
NM_153704.6(TMEM67):c.2242-7G>A rs761170798
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.2556+5G>C rs886063172
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.282T>C (p.Ala94=) rs1812547702
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.520G>C (p.Glu174Gln) rs2130585385
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153717.3(EVC):c.*1019A>C rs13147919
NM_153717.3(EVC):c.*1073C>T rs1271610715
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1199G>A rs1315669218
NM_153717.3(EVC):c.*1257G>T rs1013315409
NM_153717.3(EVC):c.*1277A>C rs1259649075
NM_153717.3(EVC):c.*1338C>T rs1717063885
NM_153717.3(EVC):c.*1394T>C rs1375474161
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1545T>G rs1328816482
NM_153717.3(EVC):c.*2303T>A rs915952245
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2468C>G rs1717227616
NM_153717.3(EVC):c.*2490C>G rs145238482
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2692G>A rs149155153
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*3046G>C rs934986465
NM_153717.3(EVC):c.*3121C>G rs1717320370
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G rs368249789
NM_153717.3(EVC):c.*582C>A rs1716916256
NM_153717.3(EVC):c.*619C>G rs1716921490
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*798T>G rs13101313
NM_153717.3(EVC):c.*844C>G rs1180694671
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*956C>G rs761012202
NM_153717.3(EVC):c.*967T>G rs182343325
NM_153717.3(EVC):c.*995T>A rs71599846
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro) rs1729675412
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.1109A>T (p.Glu370Val) rs778032532
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser) rs760174792
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del) rs1553875724
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4]) rs1553857987
NM_153717.3(EVC):c.1286_1288del (p.Phe429del) rs1553875733
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1465-5C>T rs1731155996
NM_153717.3(EVC):c.147C>T (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1564-3C>T rs747435572
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile) rs1735956373
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu) rs771110251
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro) rs372089496
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu) rs971647538
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly) rs1715095634
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile) rs1715104252
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2561+12_2561+23del rs1199616057
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn) rs1241844907
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC rs1553895769
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp) rs1399872123
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.46C>T (p.Leu16=) rs1722990488
NM_153717.3(EVC):c.493A>G (p.Ser165Gly) rs1259803475
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>C (p.His233Pro)
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.83T>C (p.Leu28Pro) rs1256100832
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter) rs375570541
NM_153747.2(PIGC):c.223A>G (p.Met75Val)
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) rs786205667
NM_153816.6(SNX14):c.119C>T (p.Ala40Val) rs1803676386
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) rs936843937
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_153816.6(SNX14):c.295C>T (p.His99Tyr) rs1795901647
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) rs773557814
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) rs765192341
NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly)
NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly) rs2138394748
NM_170682.4(P2RX2):c.459_554+1dup rs2138365971
NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter) rs1488690731
NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys)
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.937-3C>A rs756694090
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_170784.3(MKKS):c.-159A>C rs566532177
NM_170784.3(MKKS):c.-21C>G rs886056498
NM_170784.3(MKKS):c.-39A>C rs886056499
NM_170784.3(MKKS):c.-406G>C rs886056500
NM_170784.3(MKKS):c.-417-13dup rs528193828
NM_170784.3(MKKS):c.-649+2238A>T rs541967798
NM_170784.3(MKKS):c.-649+2292del rs566962031
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn)
NM_170784.3(MKKS):c.1073A>G (p.Lys358Arg) rs1455491260
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro) rs2064859899
NM_170784.3(MKKS):c.109T>C (p.Tyr37His)
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser) rs144892179
NM_170784.3(MKKS):c.1183C>T (p.His395Tyr)
NM_170784.3(MKKS):c.1184A>G (p.His395Arg)
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val)
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg)
NM_170784.3(MKKS):c.1267C>T (p.His423Tyr) rs2122223791
NM_170784.3(MKKS):c.1272+6T>C rs2064851919
NM_170784.3(MKKS):c.128T>G (p.Leu43Arg) rs1364157544
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val) rs746696111
NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly)
NM_170784.3(MKKS):c.1333T>A (p.Leu445Ile) rs754132134
NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser) rs1057516054
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe) rs1600843195
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val)
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys) rs2122219766
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1474G>C (p.Asp492His) rs142327258
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)
NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)
NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile) rs772349046
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
NM_170784.3(MKKS):c.1573dup (p.Cys525fs) rs2122219488
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile) rs1239900206
NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu) rs2122219454
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del) rs2122219438
NM_170784.3(MKKS):c.1583A>G (p.His528Arg)
NM_170784.3(MKKS):c.1589C>T (p.Ala530Val) rs2122219422
NM_170784.3(MKKS):c.1591G>C (p.Val531Leu) rs750705949
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu) rs2064834350
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg) rs889037739
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly) rs149095209
NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro)
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser)
NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr) rs532487848
NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg) rs369472120
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) rs554429487
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val) rs2064833443
NM_170784.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro)
NM_170784.3(MKKS):c.251A>C (p.His84Pro) rs2064908864
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly)
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser)
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.329G>T (p.Gly110Val) rs2064907691
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser)
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg)
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser) rs1222401134
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys) rs2064912754
NM_170784.3(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_170784.3(MKKS):c.469A>G (p.Ile157Val)
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu)
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala)
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile)
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp)
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr)
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser)
NM_170784.3(MKKS):c.628A>G (p.Ile210Val)
NM_170784.3(MKKS):c.64G>A (p.Val22Ile)
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu)
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln) rs2122234625
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser)
NM_170784.3(MKKS):c.715C>T (p.Leu239Phe) rs2064901215
NM_170784.3(MKKS):c.727C>T (p.Leu243Phe) rs2064900976
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe) rs2122234451
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe)
NM_170784.3(MKKS):c.751G>C (p.Asp251His) rs2064900610
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala)
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile) rs2064900423
NM_170784.3(MKKS):c.76C>G (p.Leu26Val)
NM_170784.3(MKKS):c.787A>T (p.Ser263Cys) rs764332400
NM_170784.3(MKKS):c.796G>T (p.Val266Phe) rs2064899855
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn) rs2064899452
NM_170784.3(MKKS):c.825G>T (p.Gln275His)
NM_170784.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp) rs578252932
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr)
NM_170784.3(MKKS):c.859C>A (p.His287Asn)
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg)
NM_170784.3(MKKS):c.889A>G (p.Ile297Val)
NM_170784.3(MKKS):c.891A>G (p.Ile297Met) rs2064898329
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro) rs770619894
NM_170784.3(MKKS):c.922C>A (p.His308Asn) rs1600848359
NM_170784.3(MKKS):c.937A>G (p.Ile313Val)
NM_170784.3(MKKS):c.94A>G (p.Ile32Val) rs578110162
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser)
NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla)
NM_173076.3(ABCA12):c.5381+11_5381+14del rs568420119
NM_173076.3(ABCA12):c.7240-17_7240-15del rs574161259
NM_173477.5(USH1G):c.*1130T>C rs559327953
NM_173477.5(USH1G):c.*1150TG[5] rs368387485
NM_173477.5(USH1G):c.*1168TG[8] rs746904393
NM_173477.5(USH1G):c.*1174T>G rs1368564652
NM_173477.5(USH1G):c.*1447C>T rs72844517
NM_173477.5(USH1G):c.*1903_*1905dup rs886053382
NM_173477.5(USH1G):c.*1987C>T rs886053381
NM_173477.5(USH1G):c.*233C>G rs1294004899
NM_173477.5(USH1G):c.*498G>A rs569461974
NM_173477.5(USH1G):c.-173G>C rs570755897
NM_173477.5(USH1G):c.-76A>G rs1219469632
NM_173477.5(USH1G):c.1142T>C (p.Leu381Ser) rs2038910336
NM_173477.5(USH1G):c.126T>C (p.His42=) rs1394276163
NM_173477.5(USH1G):c.327C>T (p.Gly109=) rs2038930076
NM_173477.5(USH1G):c.348C>T (p.Tyr116=) rs886053390
NM_173477.5(USH1G):c.424G>C (p.Glu142Gln) rs111033466
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040
NM_173477.5(USH1G):c.753C>T (p.Ser251=) rs886053389
NM_173483.4(CYP4F22):c.*421dup rs886054265
NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA rs886054264
NM_173543.3(DZIP1L):c.1000-4T>C
NM_173543.3(DZIP1L):c.1825G>A (p.Gly609Arg)
NM_173551.5(ANKS6):c.1011G>T (p.Gly337=) rs1834425438
NM_173551.5(ANKS6):c.1048G>A (p.Ala350Thr)
NM_173551.5(ANKS6):c.1117A>G (p.Lys373Glu) rs2118118181
NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) rs776931798
NM_173551.5(ANKS6):c.1219G>A (p.Asp407Asn)
NM_173551.5(ANKS6):c.1220-6C>T rs1371737147
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)
NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)
NM_173551.5(ANKS6):c.131A>C (p.Glu44Ala) rs1835177191
NM_173551.5(ANKS6):c.1331G>A (p.Ser444Asn)
NM_173551.5(ANKS6):c.1348G>A (p.Asp450Asn)
NM_173551.5(ANKS6):c.1361G>A (p.Gly454Glu)
NM_173551.5(ANKS6):c.1385T>G (p.Met462Arg) rs2118085004
NM_173551.5(ANKS6):c.1400G>A (p.Arg467Gln)
NM_173551.5(ANKS6):c.1429C>T (p.Arg477Cys)
NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala) rs200049920
NM_173551.5(ANKS6):c.1508C>G (p.Pro503Arg)
NM_173551.5(ANKS6):c.1690C>G (p.Pro564Ala)
NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) rs112147399
NM_173551.5(ANKS6):c.1733G>A (p.Arg578His)
NM_173551.5(ANKS6):c.1766C>A (p.Ala589Glu)
NM_173551.5(ANKS6):c.1820C>T (p.Thr607Ile)
NM_173551.5(ANKS6):c.1918G>A (p.Gly640Ser)
NM_173551.5(ANKS6):c.1940G>A (p.Ser647Asn)
NM_173551.5(ANKS6):c.2041C>G (p.Gln681Glu)
NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) rs1554742278
NM_173551.5(ANKS6):c.2057G>A (p.Arg686Gln)
NM_173551.5(ANKS6):c.2077_2078delinsTT (p.Ala693Leu) rs2118011839
NM_173551.5(ANKS6):c.2080C>T (p.Pro694Ser)
NM_173551.5(ANKS6):c.2092C>G (p.Pro698Ala)
NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)
NM_173551.5(ANKS6):c.2177C>T (p.Thr726Ile)
NM_173551.5(ANKS6):c.2225C>T (p.Ser742Leu)
NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)
NM_173551.5(ANKS6):c.2273A>T (p.His758Leu)
NM_173551.5(ANKS6):c.2287A>G (p.Ser763Gly) rs1440045028
NM_173551.5(ANKS6):c.2321A>G (p.Asp774Gly)
NM_173551.5(ANKS6):c.2324A>T (p.Glu775Val)
NM_173551.5(ANKS6):c.2325G>A (p.Glu775=)
NM_173551.5(ANKS6):c.2331A>C (p.Glu777Asp)
NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) rs1554752436
NM_173551.5(ANKS6):c.2390A>G (p.Gln797Arg)
NM_173551.5(ANKS6):c.2440del (p.Glu814fs)
NM_173551.5(ANKS6):c.2498T>G (p.Leu833Arg) rs2131933560
NM_173551.5(ANKS6):c.2511+3A>G rs2131933540
NM_173551.5(ANKS6):c.2534A>C (p.Gln845Pro)
NM_173551.5(ANKS6):c.2578A>G (p.Ser860Gly)
NM_173551.5(ANKS6):c.35TGC[4] (p.Leu14_Arg15insLeu)
NM_173551.5(ANKS6):c.362T>G (p.Phe121Cys) rs1478685052
NM_173551.5(ANKS6):c.382C>A (p.His128Asn)
NM_173551.5(ANKS6):c.568T>G (p.Leu190Val)
NM_173551.5(ANKS6):c.607C>T (p.His203Tyr)
NM_173551.5(ANKS6):c.636G>T (p.Glu212Asp)
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) rs41283630
NM_173551.5(ANKS6):c.71C>T (p.Thr24Met)
NM_173551.5(ANKS6):c.733G>T (p.Val245Leu)
NM_173551.5(ANKS6):c.743G>T (p.Gly248Val) rs375860547
NM_173551.5(ANKS6):c.74C>T (p.Ala25Val)
NM_173551.5(ANKS6):c.750C>G (p.Asn250Lys)
NM_173551.5(ANKS6):c.836C>T (p.Pro279Leu)
NM_173551.5(ANKS6):c.907+6C>T rs372343956
NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu) rs765738085
NM_173551.5(ANKS6):c.983C>T (p.Thr328Met)
NM_173551.5(ANKS6):c.994C>G (p.Leu332Val)
NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr) rs746545242
NM_174878.3(CLRN1):c.*1262G>A rs1477382233
NM_174878.3(CLRN1):c.*265AT[5] rs550716419
NM_174878.3(CLRN1):c.*277GT[11] rs34027634
NM_174878.3(CLRN1):c.*277GT[12] rs34027634
NM_174878.3(CLRN1):c.*277GT[15] rs34027634
NM_174878.3(CLRN1):c.*277GT[16] rs34027634
NM_174878.3(CLRN1):c.*537T>C rs1712862411
NM_174878.3(CLRN1):c.*592G>C rs750506543
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) rs903439082
NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys) rs983316791
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_174878.3(CLRN1):c.254-2081G>A rs780023517
NM_174878.3(CLRN1):c.254-2099_254-2086del rs1553772861
NM_174878.3(CLRN1):c.254-2189dup rs1553772899
NM_174878.3(CLRN1):c.268C>G (p.Leu90Val) rs1325008535
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg) rs1553776112
NM_174878.3(CLRN1):c.411G>A (p.Leu137=) rs1713844994
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] rs768093614
NM_174878.3(CLRN1):c.433+1102G>T rs1553772414
NM_174878.3(CLRN1):c.434-3C>A rs1712938572
NM_174878.3(CLRN1):c.43G>A (p.Val15Met) rs1559996357
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg) rs764138183
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174916.3(UBR1):c.2075T>C (p.Ile692Thr)
NM_174916.3(UBR1):c.2261G>A (p.Arg754His) rs1567131023
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu) rs1131691524
NM_174916.3(UBR1):c.3848+5G>A rs2141276718
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp) rs963383651
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.4(PCSK9):c.*1154C>A rs886046451
NM_174936.4(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.4(PCSK9):c.*1229G>T rs886046453
NM_174936.4(PCSK9):c.*152G>T rs886046438
NM_174936.4(PCSK9):c.*274C>A rs886046439
NM_174936.4(PCSK9):c.*404G>A rs886046440
NM_174936.4(PCSK9):c.*404G>C rs886046440
NM_174936.4(PCSK9):c.*426C>A rs886046441
NM_174936.4(PCSK9):c.*464C>A rs886046442
NM_174936.4(PCSK9):c.*470G>A rs886046443
NM_174936.4(PCSK9):c.*488C>A rs886046444
NM_174936.4(PCSK9):c.*509C>A rs886046445
NM_174936.4(PCSK9):c.*58A>G rs886046437
NM_174936.4(PCSK9):c.*785C>A rs886046448
NM_174936.4(PCSK9):c.*78C>T rs757944328
NM_174936.4(PCSK9):c.*846G>T rs886046449
NM_174936.4(PCSK9):c.-180T>G rs886046431
NM_174936.4(PCSK9):c.-185A>G rs886046430
NM_174936.4(PCSK9):c.-200C>A rs886046429
NM_174936.4(PCSK9):c.-221T>G rs886046428
NM_174936.4(PCSK9):c.-237T>G rs886046427
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432
NM_176824.3(BBS7):c.*1161A>G rs918127402
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*828A>G rs879827169
NM_176824.3(BBS7):c.-98C>T rs546649349
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu) rs1726067918
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val) rs1726067128
NM_176824.3(BBS7):c.1037+5C>T rs749266895
NM_176824.3(BBS7):c.1038G>A (p.Arg346=) rs989502021
NM_176824.3(BBS7):c.1052A>G (p.His351Arg)
NM_176824.3(BBS7):c.1052A>T (p.His351Leu) rs940315256
NM_176824.3(BBS7):c.1087T>C (p.Tyr363His) rs2149068941
NM_176824.3(BBS7):c.1100C>T (p.Ser367Phe)
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
NM_176824.3(BBS7):c.1160T>C (p.Leu387Pro) rs2149068760
NM_176824.3(BBS7):c.1198G>A (p.Val400Ile)
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1207G>A (p.Ala403Thr) rs761858167
NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)
NM_176824.3(BBS7):c.1231-3T>C rs1725872645
NM_176824.3(BBS7):c.1237G>A (p.Val413Ile) rs2149066894
NM_176824.3(BBS7):c.1243A>C (p.Ile415Leu) rs1299054607
NM_176824.3(BBS7):c.127G>A (p.Val43Ile)
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn) rs1410107664
NM_176824.3(BBS7):c.12_35dup (p.Leu11_Gln12insHisLeuAsnArgMetAspTyrLeu)
NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)
NM_176824.3(BBS7):c.1327G>A (p.Ala443Thr)
NM_176824.3(BBS7):c.1334A>C (p.Tyr445Ser)
NM_176824.3(BBS7):c.1334A>T (p.Tyr445Phe) rs776931328
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr) rs2149061880
NM_176824.3(BBS7):c.1340G>T (p.Cys447Phe) rs2149061880
NM_176824.3(BBS7):c.136T>G (p.Cys46Gly)
NM_176824.3(BBS7):c.1375C>A (p.Arg459Ser) rs150743868
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
NM_176824.3(BBS7):c.1451G>A (p.Arg484His) rs200720761
NM_176824.3(BBS7):c.1451G>C (p.Arg484Pro) rs200720761
NM_176824.3(BBS7):c.1457A>G (p.Tyr486Cys) rs2149056521
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1459C>A (p.His487Asn) rs1725389767
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly) rs1560643809
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu) rs1727082207
NM_176824.3(BBS7):c.1504C>T (p.His502Tyr) rs2149056423
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1522A>G (p.Thr508Ala)
NM_176824.3(BBS7):c.1558G>A (p.Val520Ile) rs1211533033
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu) rs1725285743
NM_176824.3(BBS7):c.1607C>T (p.Pro536Leu)
NM_176824.3(BBS7):c.1641C>G (p.Asn547Lys)
NM_176824.3(BBS7):c.165+5G>C rs760257318
NM_176824.3(BBS7):c.166G>T (p.Ala56Ser) rs1407094427
NM_176824.3(BBS7):c.1677-11T>G
NM_176824.3(BBS7):c.1712C>T (p.Ser571Phe) rs1295543172
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
NM_176824.3(BBS7):c.1785C>T (p.Tyr595=)
NM_176824.3(BBS7):c.1787-11A>G
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp)
NM_176824.3(BBS7):c.1825A>G (p.Ile609Val)
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe) rs1725011147
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1890+2dup
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg) rs1724997637
NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)
NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys) rs757308523
NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)
NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)
NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)
NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)
NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)
NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr) rs2149045701
NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu) rs1724883700
NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)
NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
NM_176824.3(BBS7):c.214G>A (p.Gly72Arg)
NM_176824.3(BBS7):c.22A>G (p.Met8Val) rs757370927
NM_176824.3(BBS7):c.22A>T (p.Met8Leu) rs757370927
NM_176824.3(BBS7):c.268A>G (p.Ile90Val)
NM_176824.3(BBS7):c.270T>G (p.Ile90Met)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281
NM_176824.3(BBS7):c.301C>G (p.Leu101Val) rs2149087474
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.326A>G (p.Glu109Gly) rs2149087444
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe) rs1726975256
NM_176824.3(BBS7):c.337G>T (p.Ala113Ser) rs2149087425
NM_176824.3(BBS7):c.340A>C (p.Met114Leu) rs142305911
NM_176824.3(BBS7):c.340A>G (p.Met114Val) rs142305911
NM_176824.3(BBS7):c.342-3C>G rs1244071022
NM_176824.3(BBS7):c.346A>G (p.Ile116Val) rs2149085075
NM_176824.3(BBS7):c.36+4A>G
NM_176824.3(BBS7):c.362T>A (p.Leu121His) rs2149085046
NM_176824.3(BBS7):c.379T>G (p.Tyr127Asp) rs2149085024
NM_176824.3(BBS7):c.389A>C (p.Asn130Thr) rs2149085001
NM_176824.3(BBS7):c.391C>T (p.His131Tyr)
NM_176824.3(BBS7):c.398G>A (p.Cys133Tyr) rs769735978
NM_176824.3(BBS7):c.436A>G (p.Lys146Glu)
NM_176824.3(BBS7):c.443A>G (p.Asn148Ser) rs2149084908
NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg) rs863224814
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)
NM_176824.3(BBS7):c.505G>C (p.Asp169His)
NM_176824.3(BBS7):c.511G>C (p.Val171Leu)
NM_176824.3(BBS7):c.535G>A (p.Asp179Asn) rs2149080347
NM_176824.3(BBS7):c.543G>A (p.Met181Ile)
NM_176824.3(BBS7):c.574G>C (p.Val192Leu)
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser) rs1726562977
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro)
NM_176824.3(BBS7):c.586C>T (p.His196Tyr)
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)
NM_176824.3(BBS7):c.600C>A (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.600C>T (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.602-4G>T
NM_176824.3(BBS7):c.632C>G (p.Thr211Arg) rs119466002
NM_176824.3(BBS7):c.635C>T (p.Ser212Leu)
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)
NM_176824.3(BBS7):c.655A>G (p.Ile219Val) rs2149079121
NM_176824.3(BBS7):c.682C>T (p.Arg228Cys) rs762367354
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420
NM_176824.3(BBS7):c.711G>T (p.Lys237Asn)
NM_176824.3(BBS7):c.718+3A>T
NM_176824.3(BBS7):c.718G>A (p.Gly240Ser)
NM_176824.3(BBS7):c.737G>A (p.Ser246Asn) rs1444684339
NM_176824.3(BBS7):c.746T>A (p.Ile249Asn)
NM_176824.3(BBS7):c.746T>G (p.Ile249Ser)
NM_176824.3(BBS7):c.748G>C (p.Val250Leu)
NM_176824.3(BBS7):c.748G>T (p.Val250Leu) rs759886973
NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly) rs1726405384
NM_176824.3(BBS7):c.794T>C (p.Met265Thr) rs1726404404
NM_176824.3(BBS7):c.7C>A (p.Leu3Met)
NM_176824.3(BBS7):c.821C>G (p.Ala274Gly)
NM_176824.3(BBS7):c.821C>T (p.Ala274Val) rs754878470
NM_176824.3(BBS7):c.82A>G (p.Arg28Gly) rs2149094179
NM_176824.3(BBS7):c.842T>A (p.Phe281Tyr)
NM_176824.3(BBS7):c.847C>G (p.Gln283Glu)
NM_176824.3(BBS7):c.850-10A>G
NM_176824.3(BBS7):c.880G>A (p.Gly294Ser)
NM_176824.3(BBS7):c.886T>C (p.Cys296Arg) rs2149072518
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg) rs1726155956
NM_176824.3(BBS7):c.935-18T>G
NM_176824.3(BBS7):c.935G>C (p.Gly312Ala)
NM_176824.3(BBS7):c.945A>G (p.Thr315=)
NM_176824.3(BBS7):c.947G>T (p.Gly316Val)
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala)
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly) rs863224815
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)
NM_177400.3(NKX6-2):c.175G>T (p.Gly59Cys)
NM_177400.3(NKX6-2):c.305G>T (p.Gly102Val)
NM_177400.3(NKX6-2):c.450C>G (p.His150Gln) rs958289238
NM_177400.3(NKX6-2):c.501C>G (p.Phe167Leu) rs1375888398
NM_177400.3(NKX6-2):c.89T>G (p.Phe30Cys)
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu) rs376587956
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg) rs757837788
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) rs2132155183
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu) rs1023654494
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp) rs149558233
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro) rs115660509
NM_177976.3(ARL6):c.-371A>G rs754624462
NM_178161.3(PTF1A):c.*126_*129del rs533517653
NM_178170.3(NEK8):c.*163G>T rs886052768
NM_178170.3(NEK8):c.*338G>A rs555831494
NM_178170.3(NEK8):c.*396G>A rs886052769
NM_178170.3(NEK8):c.*474G>A rs112096840
NM_178170.3(NEK8):c.*523C>T rs149884715
NM_178170.3(NEK8):c.*582C>A rs114252148
NM_178170.3(NEK8):c.*759C>G rs1228540616
NM_178170.3(NEK8):c.1049C>T (p.Ser350Phe)
NM_178170.3(NEK8):c.1076C>T (p.Pro359Leu) rs2034384900
NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg)
NM_178170.3(NEK8):c.1204T>C (p.Phe402Leu)
NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn) rs778986582
NM_178170.3(NEK8):c.1300-13C>A rs371308377
NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)
NM_178170.3(NEK8):c.1332_1333dup (p.Met445fs) rs1567761332
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_178170.3(NEK8):c.139G>T (p.Ala47Ser) rs1567759132
NM_178170.3(NEK8):c.1411G>A (p.Asp471Asn)
NM_178170.3(NEK8):c.1416C>G (p.Ser472Arg) rs750550396
NM_178170.3(NEK8):c.141del (p.Ala48fs) rs1567759133
NM_178170.3(NEK8):c.1439G>C (p.Arg480Thr)
NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr)
NM_178170.3(NEK8):c.1496G>A (p.Arg499Gln)
NM_178170.3(NEK8):c.1696A>G (p.Ile566Val)
NM_178170.3(NEK8):c.1795C>G (p.Arg599Gly) rs375661404
NM_178170.3(NEK8):c.1928G>A (p.Gly643Asp)
NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln)
NM_178170.3(NEK8):c.2016dup (p.Cys673fs) rs1567762509
NM_178170.3(NEK8):c.2050+3G>A rs780189365
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile) rs118111521
NM_178170.3(NEK8):c.2075C>G (p.Pro692Arg)
NM_178170.3(NEK8):c.248C>T (p.Ala83Val)
NM_178170.3(NEK8):c.284G>A (p.Arg95His)
NM_178170.3(NEK8):c.287G>T (p.Cys96Phe)
NM_178170.3(NEK8):c.300G>A (p.Leu100=)
NM_178170.3(NEK8):c.313A>G (p.Ile105Val)
NM_178170.3(NEK8):c.328G>A (p.Val110Met)
NM_178170.3(NEK8):c.419G>A (p.Arg140His) rs141599330
NM_178170.3(NEK8):c.437G>T (p.Gly146Val) rs770564532
NM_178170.3(NEK8):c.478G>T (p.Ala160Ser)
NM_178170.3(NEK8):c.506A>G (p.Tyr169Cys) rs2034352287
NM_178170.3(NEK8):c.581A>C (p.Tyr194Ser) rs1060501399
NM_178170.3(NEK8):c.602G>C (p.Arg201Thr)
NM_178170.3(NEK8):c.650G>C (p.Ser217Thr)
NM_178170.3(NEK8):c.656C>A (p.Thr219Asn) rs1597806441
NM_178170.3(NEK8):c.779G>A (p.Arg260His)
NM_178170.3(NEK8):c.802G>A (p.Asp268Asn)
NM_178170.3(NEK8):c.841G>A (p.Val281Met)
NM_178170.3(NEK8):c.881G>A (p.Arg294His) rs762967348
NM_178170.3(NEK8):c.881G>T (p.Arg294Leu) rs762967348
NM_178170.3(NEK8):c.886A>G (p.Arg296Gly)
NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)
NM_178172.6(GPIHBP1):c.272C>A (p.Thr91Asn)
NM_178172.6(GPIHBP1):c.406T>G (p.Cys136Gly)
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_178335.3(CCDC50):c.1105G>T (p.Asp369Tyr)
NM_178335.3(CCDC50):c.199C>G (p.Leu67Val) rs1459433782
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
NM_181503.3(EXOSC8):c.17+1G>T rs1412754843
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) rs1221939030
NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)
NM_182548.4(LHFPL5):c.*170A>G rs886061346
NM_182548.4(LHFPL5):c.*443C>T rs1163079029
NM_182548.4(LHFPL5):c.*457C>T rs866657668
NM_182548.4(LHFPL5):c.*508A>T rs371866936
NM_182548.4(LHFPL5):c.*790A>G rs886061372
NM_182548.4(LHFPL5):c.-128C>T rs146758343
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)
NM_182548.4(LHFPL5):c.372C>T (p.Ala124=) rs886061345
NM_182548.4(LHFPL5):c.411G>T (p.Ala137=) rs140326236
NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu)
NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu) rs1768557675
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*449T>A rs886061188
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.-224+1G>A
NM_182961.4(SYNE1):c.-352C>T rs886061220
NM_182961.4(SYNE1):c.-40A>T rs2099690467
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met) rs756088149
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala) rs2097039682
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser) rs2097039682
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu) rs758060339
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe) rs754599705
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala) rs2154069302
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys) rs1179568983
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val) rs546645393
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr) rs1212823311
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu) rs748911036
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile) rs2096943501
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg) rs1047722501
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met) rs201204269
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro) rs200003096
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly) rs2096893025
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
NM_182961.4(SYNE1):c.1047+4T>G rs9397106
NM_182961.4(SYNE1):c.1048-4_1048-3del rs755509246
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe) rs1447737732
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=) rs765669433
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile) rs1156294695
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val) rs2154051091
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His) rs779366372
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu) rs143034104
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val) rs2098931426
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys) rs1214109688
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr) rs2098931353
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=) rs767172575
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly) rs767172575
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln) rs143673038
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met) rs567753957
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His) rs2154045109
NM_182961.4(SYNE1):c.1119C>T (p.His373=) rs886061217
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
NM_182961.4(SYNE1):c.11253+6C>A rs2096773869
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg) rs953580081
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile) rs2096753111
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu) rs1207624769
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly) rs2096752876
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu) rs2154039505
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=) rs146919170
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile) rs770523249
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro) rs776601282
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met) rs755039909
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys) rs1590820792
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp) rs750372071
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly) rs935958519
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
NM_182961.4(SYNE1):c.11902-3C>T
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser) rs2154025706
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser) rs755560676
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val) rs745342797
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu) rs756840607
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val) rs756840607
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn) rs2154025477
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met) rs2096650506
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val) rs2154025456
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg) rs2096590726
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val) rs761744256
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys) rs1159138676
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) rs1366322267
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys) rs771323185
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr) rs771323185
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp) rs1554492224
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met) rs144274149
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro) rs911413208
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys) rs898572784
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met) rs2096403501
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp) rs763067012
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His) rs147385939
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del) rs1356327027
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn) rs149536991
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg) rs1032510868
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly) rs1363382711
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp) rs866991892
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu) rs140492158
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His) rs2096319568
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr) rs1590300572
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=) rs1554474578
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
NM_182961.4(SYNE1):c.129+3A>G
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val) rs758301679
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala) rs2153974951
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn) rs2153974889
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly) rs2153974617
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys) rs2154294590
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser) rs201900423
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly) rs886061204
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln) rs766831979
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr) rs1405025412
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile) rs2153973664
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg) rs2153973584
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys) rs554814659
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly) rs1202464044
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu) rs768085752
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly) rs2153973254
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile) rs1554471456
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala) rs933108692
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn) rs1265607198
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro) rs2096237841
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu) rs542819749
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His) rs755192690
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe) rs138770612
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys) rs1590225545
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp) rs968829958
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile) rs2153972296
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu) rs762392590
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala) rs2096230090
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup) rs886043161
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg) rs374697325
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu) rs374596074
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr) rs1346910826
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn) rs766721753
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser) rs756636517
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr) rs368490158
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu) rs2153970528
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln) rs2096215013
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys) rs746657854
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly) rs2096212044
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile) rs2154279827
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr) rs2096210316
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser) rs2153969748
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met) rs1297328408
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile) rs922999800
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn) rs2096207947
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg) rs753891807
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro) rs2096206184
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln) rs2153969244
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly) rs2096205614
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg) rs780093837
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu) rs1044018341
NM_182961.4(SYNE1):c.148G>A (p.Val50Met) rs1023433513
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val) rs35085679
NM_182961.4(SYNE1):c.14956-19T>A
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro) rs2153955400
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys) rs533927341
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met) rs2096068834
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala) rs886042595
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr) rs1486769103
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val) rs756766678
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn) rs2154279114
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr) rs759275432
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His) rs1432273399
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala) rs2153953000
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu) rs1309063617
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg) rs2153952840
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg) rs2153952625
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val) rs2153949505
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn) rs560155321
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile) rs2096026505
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His) rs751121212
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg) rs758161214
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro) rs752229373
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=) rs762262465
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile) rs2095955611
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu) rs2095954870
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg) rs1379759625
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg) rs2153938686
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn) rs2095950565
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn) rs1322082202
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu) rs758942889
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val) rs768403781
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr) rs748905719
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu) rs1221150819
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=) rs149215868
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met) rs2153937753
NM_182961.4(SYNE1):c.15917+3A>T rs2153937725
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu) rs1554441847
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met) rs886061203
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp) rs2095874810
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala) rs2095873538
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del) rs1487695655
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala) rs1342214470
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe) rs942561370
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys) rs1320150804
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val) rs2153923807
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
NM_182961.4(SYNE1):c.16236+4A>C
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn) rs2095804308
NM_182961.4(SYNE1):c.1632+3G>A
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu) rs181649865
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val) rs181649865
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val) rs530429418
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln) rs2153899250
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val) rs2153899235
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val) rs2095781749
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn) rs886061216
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser) rs1563012099
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn) rs2153893118
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg) rs2095739223
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe) rs1379717748
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro) rs886043922
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys) rs1045463275
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser) rs765080468
NM_182961.4(SYNE1):c.16880T>C (p.Leu5627Pro) rs2153836967
NM_182961.4(SYNE1):c.16897-6C>G rs372179792
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys) rs2153836745
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu) rs776905124
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln) rs886043150
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile) rs2095499163
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met) rs1479722158
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser) rs2153836097
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly) rs780396166
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg) rs1192063694
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp) rs138941941
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr) rs775685010
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
NM_182961.4(SYNE1):c.17203-5C>A rs886044642
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro) rs2095450657
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys) rs2095448965
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr) rs774018511
NM_182961.4(SYNE1):c.17346+17C>T
NM_182961.4(SYNE1):c.17347-13A>G
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser) rs764611066
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp) rs2153813360
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly) rs2095195177
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys) rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln) rs918895767
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly) rs886042413
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His) rs2095191599
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val) rs2153813002
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn) rs1450245566
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala) rs2153809663
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17682+4C>T
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr) rs747150703
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser) rs765300968
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.17850+4A>G rs200922100
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg) rs2153782971
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly) rs1554363340
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys) rs1589456322
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
NM_182961.4(SYNE1):c.18013-3C>T rs2153732604
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) rs147615757
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr) rs2153731962
NM_182961.4(SYNE1):c.18207+13T>G
NM_182961.4(SYNE1):c.18208-4A>G rs1246664941
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys) rs2154269816
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile) rs2153724594
NM_182961.4(SYNE1):c.18381+3A>C rs2153724535
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met) rs945540285
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg) rs2093773675
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys) rs867471417
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del) rs771543751
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly) rs375829264
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val) rs375829264
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser) rs201685248
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu) rs377307244
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala) rs886061202
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
NM_182961.4(SYNE1):c.18705+6G>A rs2153679070
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp) rs2092880052
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln) rs200360218
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn) rs2092878526
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val) rs1275027623
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu) rs2092093757
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp) rs778537486
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr) rs771327791
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln) rs376472604
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=) rs1316935433
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg) rs2090949177
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile) rs2090941359
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile) rs2090937224
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe) rs2153628762
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr) rs769911507
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu) rs1554285472
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr) rs1588858602
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp) rs781479222
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg) rs1554756030
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=) rs2090636581
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe) rs966960053
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile) rs2153623229
NM_182961.4(SYNE1):c.19260+3A>G
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr) rs996252466
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn) rs2090468441
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr) rs1315831856
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser) rs2153620062
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg) rs2153619732
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val) rs2154267666
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu) rs779049973
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr) rs2086639076
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys) rs2086635846
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys) rs1290381941
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19656C>T (p.Val6552=) rs773211579
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg) rs2085923878
NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile) rs2098746138
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr) rs769943207
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
NM_182961.4(SYNE1):c.19893+5A>G rs374102244
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys) rs2153551621
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr) rs2085071185
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser) rs770873356
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu) rs578055399
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser) rs1376604930
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly) rs2084228622
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu) rs765132195
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp) rs769305344
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn) rs949257779
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly) rs2153534806
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val) rs2083603543
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe) rs769820392
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His) rs758105121
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser) rs2083351978
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val) rs369855513
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=) rs2082942186
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly) rs886044105
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu) rs2153517122
NM_182961.4(SYNE1):c.20862+5T>A
NM_182961.4(SYNE1):c.20863-5T>G rs2082753195
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His) rs763904392
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr) rs2082727720
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg) rs2082723314
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg) rs2082723314
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys) rs758318901
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser) rs2153509730
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=) rs886061200
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu) rs2098742431
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln) rs771203839
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His) rs1267961945
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu) rs2153509038
NM_182961.4(SYNE1):c.21195+17G>A
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg) rs749981989
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln) rs2081454702
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser) rs1321824454
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr) rs777618601
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg) rs2081442642
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val) rs2153485074
NM_182961.4(SYNE1):c.21351+14C>T rs2081426061
NM_182961.4(SYNE1):c.21351+4A>G rs2081431126
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met) rs775691059
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe) rs776459203
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr) rs369355230
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=) rs1427603497
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp) rs886061199
NM_182961.4(SYNE1):c.21522+6del
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His) rs886061198
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys) rs780059512
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr) rs794727041
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe) rs775870306
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg) rs2098742034
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp) rs1377401737
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro) rs2154353751
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg) rs557878312
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His) rs968163245
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser) rs2079440770
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile) rs1588081530
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg) rs886061215
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu) rs2079430530
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile) rs1199232781
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His) rs944485518
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile) rs2154266865
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val) rs1588067419
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn) rs886043280
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val) rs2153454164
NM_182961.4(SYNE1):c.22191+4A>G rs2153454005
NM_182961.4(SYNE1):c.22192-14A>G
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile) rs778036632
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser) rs760439015
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp) rs767375107
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys) rs554483231
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del) rs756712103
NM_182961.4(SYNE1):c.22346+6G>A
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu) rs371289584
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly) rs1587952687
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
NM_182961.4(SYNE1):c.22494+4A>G
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
NM_182961.4(SYNE1):c.225+5G>C rs1594697066
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val) rs963496863
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile) rs1554568810
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
NM_182961.4(SYNE1):c.22589+4G>A
NM_182961.4(SYNE1):c.22589+4G>T rs563408259
NM_182961.4(SYNE1):c.22590-3T>C rs1400330082
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val) rs2153409793
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe) rs760818352
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His) rs768489386
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala) rs775028308
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe) rs2076839550
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg) rs2153408771
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly) rs2153408610
NM_182961.4(SYNE1):c.22825-3C>A rs2153398590
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp) rs2153398375
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser) rs2153398279
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val) rs555792275
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr) rs776115026
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg) rs993798442
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr) rs886061214
NM_182961.4(SYNE1):c.23046A>G (p.Ile7682Met) rs772452257
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr) rs1161832578
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu) rs1201437684
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln) rs768705708
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr) rs767407271
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg) rs1452755990
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg) rs1554518143
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr) rs2153229567
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys) rs138747167
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr) rs886043037
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val) rs200800604
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg) rs2067600593
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys) rs2066481563
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) rs894257787
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys) rs1593187196
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val) rs147406318
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr) rs1331488136
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu) rs2153026780
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg) rs2063159798
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg) rs192734406
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser) rs1028548586
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile) rs757122298
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala) rs2063146847
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu) rs2153025842
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr) rs2153025589
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala) rs746086003
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His) rs2063133832
NM_182961.4(SYNE1):c.23791-6C>G
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=) rs886061194
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys) rs1554441768
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val) rs766732148
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr) rs1000667542
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg) rs1586408465
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met) rs757366114
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg) rs2098714288
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala) rs2061108490
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn) rs2152941881
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr) rs2152941858
NM_182961.4(SYNE1):c.24130-3T>C
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His) rs201956180
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=) rs886061193
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu) rs1563054108
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys) rs749473816
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser) rs886061192
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro) rs2152915749
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu) rs2060437692
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
NM_182961.4(SYNE1):c.24450+8A>G
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr) rs2098714101
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp) rs36215251
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr) rs201904925
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp) rs1297857077
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr) rs1344598258
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met) rs201799566
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val) rs2152881730
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly) rs759109611
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr) rs2152881229
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala) rs952705892
NM_182961.4(SYNE1):c.2477C>T (p.Ser826Phe)
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu) rs148367376
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met) rs200663180
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn) rs754883031
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp) rs1253089660
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe) rs1554420700
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro) rs532387179
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys) rs2152832436
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu) rs886044213
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
NM_182961.4(SYNE1):c.25120-3C>T rs749447242
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val) rs1421570389
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr) rs1466825112
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly) rs2152810960
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn) rs769976238
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile) rs769976238
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln) rs371211999
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln) rs556231915
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro) rs754937504
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys) rs754577367
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His) rs2152799197
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val) rs2057180997
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile) rs1404247560
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln) rs1420121296
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg) rs1164254591
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val) rs1260198851
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln) rs544950546
NM_182961.4(SYNE1):c.25788+6A>G
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro) rs2152720317
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His) rs756313747
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser) rs13210845
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser) rs1192925822
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr) rs1554376325
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu) rs2152705585
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
NM_182961.4(SYNE1):c.26153+6T>C
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe) rs1585315718
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu) rs2295192
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del) rs1310428962
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val) rs983040762
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu) rs2051624339
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys) rs567376316
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser) rs754932611
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg) rs373633207
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met) rs373633207
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
NM_182961.4(SYNE1):c.2728-14T>C
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) rs141214076
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val) rs756151309
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr) rs746476950
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly) rs2098689694
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu) rs2154257288
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln) rs2154257153
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr) rs771446969
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=) rs2098645628
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala) rs776586157
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg) rs369619658
NM_182961.4(SYNE1):c.309+3A>G rs2099133351
NM_182961.4(SYNE1):c.309+5G>C rs2154348308
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser) rs925892033
NM_182961.4(SYNE1):c.310-482C>T rs561359644
NM_182961.4(SYNE1):c.310-7T>A rs1341089745
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys) rs545152377
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met) rs1592962615
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe) rs2098641244
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr) rs2098640852
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp) rs2154250248
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn) rs377684975
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser) rs1194769025
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly) rs886044019
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr) rs1352916426
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu) rs1592939078
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu) rs201354687
NM_182961.4(SYNE1):c.3504+5G>C rs1398879746
NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys) rs2098603484
NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile) rs2154244956
NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=) rs1041302788
NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys) rs775456029
NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln) rs2154239333
NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly) rs2099690291
NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg) rs1350747356
NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro) rs1417438989
NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg) rs911005692
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His) rs371842938
NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu) rs371842938
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
NM_182961.4(SYNE1):c.4008+5G>T rs1350714036
NM_182961.4(SYNE1):c.403-10T>G rs886061219
NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr) rs998116525
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn) rs1554707111
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro) rs1554696981
NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys) rs2098471423
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln) rs149918889
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly) rs779044367
NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys) rs139798419
NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn) rs886044260
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro) rs2154210873
NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser) rs2154210826
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr) rs1350630909
NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
NM_182961.4(SYNE1):c.4461+6C>T rs776194459
NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile) rs2154201681
NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis) rs2098420279
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu) rs1554687302
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg) rs141597053
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys) rs1209224800
NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu) rs1187109031
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr) rs1487588055
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln) rs1295935097
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His) rs144533000
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val) rs1554686616
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His) rs2154201077
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala) rs2154201070
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu) rs2098415660
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser) rs1394715779
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala) rs749571011
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
NM_182961.4(SYNE1):c.4789-3T>C rs1228194784
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val) rs1268913905
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys) rs2154197911
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro) rs749115727
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu) rs779239788
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe) rs2098338003
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val) rs202081505
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp) rs2154194638
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=) rs2098221960
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln) rs749200824
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu) rs1289357494
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp) rs763296949
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys) rs778264930
NM_182961.4(SYNE1):c.553T>C (p.Leu185=) rs2099078168
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met) rs2154182549
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys) rs376693048
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His) rs1305356670
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg) rs989623011
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly) rs2154182301
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp) rs555846215
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val) rs2154182197
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met) rs1384241452
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
NM_182961.4(SYNE1):c.581+3A>T
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg) rs2099078036
NM_182961.4(SYNE1):c.582-12T>C
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly) rs963256304
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln) rs2098157118
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly) rs762574786
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn) rs774941465
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser) rs2154176994
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu) rs542032376
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys) rs2154176931
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys) rs2097980458
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile) rs760835706
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr) rs200640405
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala) rs1564513288
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
NM_182961.4(SYNE1):c.6541-12T>A rs2097913765
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu) rs146053885
NM_182961.4(SYNE1):c.661C>A (p.Arg221=) rs750266004
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys) rs2154165420
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser) rs2099051828
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val) rs2097912504
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr) rs2154165359
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu) rs1374881204
NM_182961.4(SYNE1):c.68-14C>A rs554675581
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe) rs867285350
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala) rs1384232957
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val) rs2154150998
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly) rs1395736433
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser) rs2097810439
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val) rs1250755900
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr) rs1317403604
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu) rs1564735123
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
NM_182961.4(SYNE1):c.7030-14C>T rs1257361080
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser) rs776339735
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser) rs766789322
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro) rs1244195756
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr) rs780924006
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val) rs2097770762
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly) rs370082646
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr) rs2154145830
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn) rs770329883
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe) rs757562714
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu) rs1384323646
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly) rs371796151
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala) rs2154331462
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu) rs756083446
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met) rs550027519
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His) rs2097719630
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys) rs2154141021
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn) rs2097719253
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
NM_182961.4(SYNE1):c.7713-11C>T rs201131946
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val) rs1382595953
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu) rs761902124
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly) rs1591742558
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg) rs2097627280
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys) rs147040672
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln) rs370644295
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg) rs2154133685
NM_182961.4(SYNE1):c.8005-7_8005-6insA
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys) rs766019755
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro) rs1591716331
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu) rs2097590125
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp) rs886061208
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val) rs765054617
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly) rs886044469
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys) rs2099036274
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu) rs1438857220
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln) rs770073509
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
NM_182961.4(SYNE1):c.8487+6T>C rs2097536510
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys) rs577620830
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly) rs757720748
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe) rs2097516831
NM_182961.4(SYNE1):c.8652+3C>T
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val) rs1184722528
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp) rs576979843
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly) rs372633466
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys) rs372633466
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr) rs2154115485
NM_182961.4(SYNE1):c.888+4G>A rs749258298
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu) rs2097406538
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp) rs570962334
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val) rs2154319036
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
NM_182961.4(SYNE1):c.9009+5G>T rs1252397404
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr) rs910446340
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val) rs1591451162
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=) rs369163343
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser) rs1554580101
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr) rs2154103548
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val) rs761071366
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu) rs1391282600
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val) rs2154103329
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln) rs2154097171
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys) rs138481762
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile) rs1554795128
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn) rs369574011
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp) rs6913579
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu) rs2154085901
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn) rs1057519421
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile) rs768692140
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln) rs751257864
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys) rs2154085638
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln) rs1024177161
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser) rs1563432555
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser) rs753548717
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn) rs886061206
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr) rs886061206
NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys) rs2097100149
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly) rs188684213
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr) rs745707616
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr) rs1247321590
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly) rs2154300492
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_183065.4(TMEM107):c.*674G>T
NM_183065.4(TMEM107):c.*686A>C
NM_183065.4(TMEM107):c.*718G>A rs201686383
NM_183065.4(TMEM107):c.*733G>T rs186890613
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_194248.3(OTOF):c.*18-4C>T rs1664280618
NM_194248.3(OTOF):c.*348G>T rs112312933
NM_194248.3(OTOF):c.*474C>T rs1664255863
NM_194248.3(OTOF):c.*812C>T rs139652991
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
NM_194248.3(OTOF):c.1227G>C (p.Gly409=) rs886055879
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1538A>G (p.His513Arg)
NM_194248.3(OTOF):c.1696C>T (p.Arg566Trp) rs760584389
NM_194248.3(OTOF):c.1803+13G>A rs886055878
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.2029G>C (p.Gly677Arg) rs781547633
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2256G>A (p.Glu752=)
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2676G>A (p.Lys892=) rs2148050346
NM_194248.3(OTOF):c.2750G>A (p.Gly917Asp) rs1218641736
NM_194248.3(OTOF):c.2788C>G (p.Pro930Ala) rs746541787
NM_194248.3(OTOF):c.2928C>T (p.Asp976=) rs534758736
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.2983T>C (p.Cys995Arg) rs1265540448
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala) rs1665210196
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) rs2148044809
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) rs572579351
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.4033CAA[1] (p.Gln1346del)
NM_194248.3(OTOF):c.4239A>G (p.Lys1413=) rs886055876
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4509C>A (p.Asp1503Glu) rs1335296783
NM_194248.3(OTOF):c.4628+5G>C rs1664706577
NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu) rs2148027757
NM_194248.3(OTOF):c.4773C>A (p.Thr1591=) rs1664691704
NM_194248.3(OTOF):c.5040C>T (p.Arg1680=) rs1664608827
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5097C>G (p.Ile1699Met) rs12386239
NM_194248.3(OTOF):c.5103+2T>A rs1323329701
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) rs2148023735
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr) rs555613193
NM_194248.3(OTOF):c.5291+5G>A
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5440A>G (p.Met1814Val) rs886055874
NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly) rs770709835
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)
NM_194248.3(OTOF):c.731T>C (p.Met244Thr) rs1666121138
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836
NM_198428.3(BBS9):c.*323A>G rs1864473091
NM_198428.3(BBS9):c.*729C>T rs1864525540
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.-456G>A rs886062277
NM_198428.3(BBS9):c.1014_1015delinsTT (p.Leu338_His339delinsPheTyr) rs2128347670
NM_198428.3(BBS9):c.1016+2dup
NM_198428.3(BBS9):c.1016+5G>T rs1800274291
NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)
NM_198428.3(BBS9):c.1046G>A (p.Ser349Asn)
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) rs1815378459
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val) rs1815389952
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr) rs746345067
NM_198428.3(BBS9):c.11T>G (p.Phe4Cys) rs746345067
NM_198428.3(BBS9):c.1228G>T (p.Asp410Tyr) rs1000831388
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu) rs751604593
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1275+6T>G rs1816408545
NM_198428.3(BBS9):c.1288G>A (p.Val430Ile)
NM_198428.3(BBS9):c.1330G>C (p.Val444Leu)
NM_198428.3(BBS9):c.1367A>G (p.Lys456Arg) rs2128661224
NM_198428.3(BBS9):c.136A>T (p.Met46Leu)
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1426T>A (p.Phe476Ile)
NM_198428.3(BBS9):c.1453G>C (p.Val485Leu)
NM_198428.3(BBS9):c.1466T>C (p.Val489Ala)
NM_198428.3(BBS9):c.1531C>A (p.Pro511Thr)
NM_198428.3(BBS9):c.1532C>A (p.Pro511Gln) rs965817527
NM_198428.3(BBS9):c.1532C>G (p.Pro511Arg)
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1544A>T (p.Asn515Ile)
NM_198428.3(BBS9):c.1547C>T (p.Pro516Leu)
NM_198428.3(BBS9):c.1552+5G>T
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro) rs34218557
NM_198428.3(BBS9):c.1582A>G (p.Arg528Gly)
NM_198428.3(BBS9):c.1586T>A (p.Leu529His)
NM_198428.3(BBS9):c.1596G>C (p.Lys532Asn)
NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu)
NM_198428.3(BBS9):c.1637A>G (p.His546Arg)
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser)
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly) rs1819942366
NM_198428.3(BBS9):c.1691C>T (p.Pro564Leu)
NM_198428.3(BBS9):c.1693+4del rs2128687729
NM_198428.3(BBS9):c.176C>A (p.Thr59Lys) rs749727731
NM_198428.3(BBS9):c.1775C>G (p.Ala592Gly)
NM_198428.3(BBS9):c.1786T>G (p.Ser596Ala)
NM_198428.3(BBS9):c.1789+5G>T rs2128714437
NM_198428.3(BBS9):c.1790-1091A>G
NM_198428.3(BBS9):c.1790-3C>T
NM_198428.3(BBS9):c.1793G>A (p.Arg598Gln)
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1799G>T (p.Arg600Leu)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr) rs1584588488
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1841A>G (p.Asn614Ser) rs1825501129
NM_198428.3(BBS9):c.1843G>A (p.Glu615Lys) rs993175361
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del) rs1302171532
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg) rs1048014676
NM_198428.3(BBS9):c.1937T>C (p.Phe646Ser)
NM_198428.3(BBS9):c.1951C>G (p.His651Asp)
NM_198428.3(BBS9):c.1962+3A>T rs1017765966
NM_198428.3(BBS9):c.1963-6T>C rs769047017
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)
NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)
NM_198428.3(BBS9):c.1992A>C (p.Glu664Asp) rs2128756476
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2009C>T (p.Ala670Val)
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln)
NM_198428.3(BBS9):c.2027T>C (p.Ile676Thr)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp) rs749841788
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) rs772347593
NM_198428.3(BBS9):c.206T>C (p.Leu69Pro) rs771129780
NM_198428.3(BBS9):c.2070_2071delinsTA (p.Pro691Thr)
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) rs2128756856
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) rs1274816953
NM_198428.3(BBS9):c.20G>A (p.Arg7His) rs746340993
NM_198428.3(BBS9):c.20G>C (p.Arg7Pro) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)
NM_198428.3(BBS9):c.2108A>G (p.Tyr703Cys)
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr)
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr)
NM_198428.3(BBS9):c.214G>A (p.Val72Met) rs765240871
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2261C>T (p.Ala754Val)
NM_198428.3(BBS9):c.2298+5G>A rs1846053369
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met)
NM_198428.3(BBS9):c.2357_2359del (p.Lys786del)
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn)
NM_198428.3(BBS9):c.2370G>T (p.Glu790Asp)
NM_198428.3(BBS9):c.2385_2396del (p.Ser797_Asn800del)
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2462A>C (p.Lys821Thr) rs1851006563
NM_198428.3(BBS9):c.2489A>G (p.Asp830Gly)
NM_198428.3(BBS9):c.2494G>C (p.Ala832Pro)
NM_198428.3(BBS9):c.2511G>T (p.Met837Ile)
NM_198428.3(BBS9):c.2518C>T (p.Pro840Ser)
NM_198428.3(BBS9):c.251G>A (p.Gly84Glu) rs766917697
NM_198428.3(BBS9):c.2521+951G>T
NM_198428.3(BBS9):c.2522-3T>C
NM_198428.3(BBS9):c.2522-5A>G rs2129207620
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)
NM_198428.3(BBS9):c.2534C>G (p.Thr845Arg) rs2129207675
NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser) rs1864358642
NM_198428.3(BBS9):c.2588T>A (p.Leu863Gln)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys) rs1490049568
NM_198428.3(BBS9):c.2594C>T (p.Thr865Ile)
NM_198428.3(BBS9):c.259G>A (p.Val87Ile) rs1255605179
NM_198428.3(BBS9):c.2604A>C (p.Arg868Ser)
NM_198428.3(BBS9):c.2623C>A (p.Pro875Thr) rs755911247
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.2631del (p.Glu878fs) rs1401159616
NM_198428.3(BBS9):c.2633-2A>G rs1864417554
NM_198428.3(BBS9):c.2633-3C>G rs1422030068
NM_198428.3(BBS9):c.2642C>G (p.Pro881Arg)
NM_198428.3(BBS9):c.2642C>T (p.Pro881Leu)
NM_198428.3(BBS9):c.2648A>G (p.Gln883Arg) rs967703053
NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG rs775674614
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser) rs1797497751
NM_198428.3(BBS9):c.349C>T (p.His117Tyr)
NM_198428.3(BBS9):c.377T>C (p.Met126Thr) rs2128162902
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.396G>C (p.Gln132His) rs10255104
NM_198428.3(BBS9):c.412A>G (p.Met138Val)
NM_198428.3(BBS9):c.443-37371A>G
NM_198428.3(BBS9):c.450T>A (p.Asp150Glu) rs2128312333
NM_198428.3(BBS9):c.455T>C (p.Ile152Thr)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr) rs1797227483
NM_198428.3(BBS9):c.49_51del (p.Lys17del) rs1562672388
NM_198428.3(BBS9):c.509C>A (p.Ala170Asp)
NM_198428.3(BBS9):c.527C>G (p.Pro176Arg)
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
NM_198428.3(BBS9):c.544G>T (p.Gly182Cys) rs946999139
NM_198428.3(BBS9):c.548C>T (p.Pro183Leu)
NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe) rs1797251379
NM_198428.3(BBS9):c.60T>A (p.Phe20Leu)
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
NM_198428.3(BBS9):c.618-3C>G rs1460288162
NM_198428.3(BBS9):c.61G>C (p.Asp21His)
NM_198428.3(BBS9):c.625G>T (p.Val209Leu)
NM_198428.3(BBS9):c.628C>A (p.Leu210Ile)
NM_198428.3(BBS9):c.644A>T (p.Asp215Val)
NM_198428.3(BBS9):c.657G>T (p.Arg219Ser) rs1307359911
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del) rs1562901016
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr) rs1562901214
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg) rs1798450904
NM_198428.3(BBS9):c.692A>T (p.Lys231Ile)
NM_198428.3(BBS9):c.702T>A (p.Val234=) rs1373479665
NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr) rs1792335317
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu) rs577724923
NM_198428.3(BBS9):c.745T>C (p.Cys249Arg)
NM_198428.3(BBS9):c.746G>A (p.Cys249Tyr) rs772441123
NM_198428.3(BBS9):c.755C>T (p.Ser252Phe)
NM_198428.3(BBS9):c.767C>G (p.Ser256Trp) rs149790873
NM_198428.3(BBS9):c.778G>A (p.Val260Ile) rs149093988
NM_198428.3(BBS9):c.778G>T (p.Val260Phe) rs149093988
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile) rs939805930
NM_198428.3(BBS9):c.831T>G (p.Ile277Met) rs1800123284
NM_198428.3(BBS9):c.83C>T (p.Ala28Val) rs1792337794
NM_198428.3(BBS9):c.850G>T (p.Asp284Tyr) rs1800127011
NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
NM_198428.3(BBS9):c.863G>C (p.Ser288Thr) rs2128345247
NM_198428.3(BBS9):c.886+4T>A rs542391272
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.938A>C (p.His313Pro) rs533714503
NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
NM_198428.3(BBS9):c.948A>G (p.Gln316=)
NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly) rs137905815
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly) rs202229910
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu) rs756521084
NM_198691.3(KRTAP10-1):c.778G>T (p.Ala260Ser) rs143105755
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)
NM_199292.2(TH):c.-69T>A rs1554924394
NM_201253.3(CRB1):c.*331_*337dup rs886045790
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) rs116347915
NM_201253.3(CRB1):c.1094G>A (p.Arg365His) rs777528044
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1431G>A (p.Gly477=) rs761872993
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) rs749112809
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser) rs1664351600
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) rs1664651920
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala) rs1485086776
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) rs1658661237
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu) rs1664680830
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) rs767706271
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) rs766793013
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys) rs1665046846
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr) rs1571555801
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) rs779253997
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser) rs1665102302
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) rs1007094417
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) rs750573216
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) rs1571645627
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu) rs1352663513
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) rs763841981
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) rs930465675
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly) rs1452416023
NM_201253.3(CRB1):c.988+10A>T rs1659846392
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
NM_201378.4(PLEC):c.19G>T (p.Asp7Tyr) rs2132991758
NM_201378.4(PLEC):c.22G>C (p.Glu8Gln)
NM_201378.4(PLEC):c.56G>A (p.Arg19His) rs781865032
NM_201378.4(PLEC):c.58G>A (p.Glu20Lys)
NM_201378.4(PLEC):c.5C>T (p.Ala2Val)
NM_201378.4(PLEC):c.70+12C>A
NM_201384.3(PLEC):c.10024T>A (p.Ser3342Thr)
NM_201384.3(PLEC):c.10025C>G (p.Ser3342Trp) rs538702691
NM_201384.3(PLEC):c.10037C>T (p.Ser3346Phe) rs368616323
NM_201384.3(PLEC):c.10039G>A (p.Val3347Met) rs782748769
NM_201384.3(PLEC):c.10039G>T (p.Val3347Leu) rs782748769
NM_201384.3(PLEC):c.1003G>C (p.Asp335His)
NM_201384.3(PLEC):c.1003G>T (p.Asp335Tyr)
NM_201384.3(PLEC):c.10042C>T (p.Arg3348Trp)
NM_201384.3(PLEC):c.10058G>A (p.Gly3353Asp) rs35261863
NM_201384.3(PLEC):c.1005C>G (p.Asp335Glu)
NM_201384.3(PLEC):c.10102_10104del (p.Lys3368del)
NM_201384.3(PLEC):c.1010A>G (p.Asn337Ser) rs2132050698
NM_201384.3(PLEC):c.10111A>G (p.Ile3371Val)
NM_201384.3(PLEC):c.10127G>A (p.Arg3376His)
NM_201384.3(PLEC):c.1014G>T (p.Arg338Ser) rs1463116442
NM_201384.3(PLEC):c.10156G>A (p.Ala3386Thr) rs1351536367
NM_201384.3(PLEC):c.10162C>A (p.Leu3388Met) rs1554678944
NM_201384.3(PLEC):c.10176G>C (p.Gln3392His) rs1821851669
NM_201384.3(PLEC):c.10180G>C (p.Ala3394Pro)
NM_201384.3(PLEC):c.10183A>G (p.Thr3395Ala)
NM_201384.3(PLEC):c.10201C>A (p.Pro3401Thr) rs1554678845
NM_201384.3(PLEC):c.1020G>C (p.Lys340Asn)
NM_201384.3(PLEC):c.10216C>G (p.Arg3406Gly) rs781882032
NM_201384.3(PLEC):c.10216C>T (p.Arg3406Cys) rs781882032
NM_201384.3(PLEC):c.10222T>C (p.Tyr3408His)
NM_201384.3(PLEC):c.10230C>G (p.His3410Gln)
NM_201384.3(PLEC):c.10249G>A (p.Val3417Met)
NM_201384.3(PLEC):c.10253T>C (p.Val3418Ala)
NM_201384.3(PLEC):c.10261G>A (p.Glu3421Lys)
NM_201384.3(PLEC):c.1027T>C (p.Tyr343His)
NM_201384.3(PLEC):c.10307A>G (p.Tyr3436Cys)
NM_201384.3(PLEC):c.10324G>A (p.Gly3442Ser)
NM_201384.3(PLEC):c.10333A>G (p.Ile3445Val)
NM_201384.3(PLEC):c.10337C>T (p.Ser3446Phe)
NM_201384.3(PLEC):c.10346A>T (p.Gln3449Leu) rs868921800
NM_201384.3(PLEC):c.10355A>G (p.Gln3452Arg) rs1554678355
NM_201384.3(PLEC):c.10356G>C (p.Gln3452His) rs1840270863
NM_201384.3(PLEC):c.10378C>T (p.His3460Tyr)
NM_201384.3(PLEC):c.1037T>C (p.Leu346Pro)
NM_201384.3(PLEC):c.10406T>G (p.Ile3469Ser)
NM_201384.3(PLEC):c.10408G>T (p.Ala3470Ser)
NM_201384.3(PLEC):c.1041G>A (p.Glu347=)
NM_201384.3(PLEC):c.1042-13C>A
NM_201384.3(PLEC):c.1042-23_1042-20dup
NM_201384.3(PLEC):c.1042-7del
NM_201384.3(PLEC):c.1042-9T>C
NM_201384.3(PLEC):c.10420ATC[1] (p.Ile3475del) rs2130990107
NM_201384.3(PLEC):c.1042G>A (p.Gly348Arg)
NM_201384.3(PLEC):c.10432G>T (p.Val3478Leu) rs375766567
NM_201384.3(PLEC):c.10438A>G (p.Ser3480Gly)
NM_201384.3(PLEC):c.1043G>A (p.Gly348Glu) rs899201636
NM_201384.3(PLEC):c.10447G>A (p.Val3483Met)
NM_201384.3(PLEC):c.10484G>A (p.Ser3495Asn) rs1554677925
NM_201384.3(PLEC):c.10486GAG[1] (p.Glu3497del)
NM_201384.3(PLEC):c.10495A>C (p.Asn3499His) rs2130985289
NM_201384.3(PLEC):c.10499_10513del (p.Arg3500_Asp3504del)
NM_201384.3(PLEC):c.10518C>A (p.Ser3506Arg)
NM_201384.3(PLEC):c.10519G>A (p.Asp3507Asn) rs200293573
NM_201384.3(PLEC):c.10519G>C (p.Asp3507His)
NM_201384.3(PLEC):c.10526C>T (p.Thr3509Ile) rs1821699183
NM_201384.3(PLEC):c.10528A>G (p.Lys3510Glu) rs2130982633
NM_201384.3(PLEC):c.10529A>C (p.Lys3510Thr) rs2130982519
NM_201384.3(PLEC):c.10536C>A (p.Phe3512Leu) rs184952405
NM_201384.3(PLEC):c.10550C>T (p.Thr3517Met)
NM_201384.3(PLEC):c.10560C>G (p.Asn3520Lys) rs782578468
NM_201384.3(PLEC):c.10570_10571inv (p.Arg3524Leu)
NM_201384.3(PLEC):c.10586G>T (p.Arg3529Leu) rs199815198
NM_201384.3(PLEC):c.10589G>A (p.Cys3530Tyr)
NM_201384.3(PLEC):c.10592T>G (p.Val3531Gly)
NM_201384.3(PLEC):c.10605_10606delinsAT (p.Thr3536Ser) rs2130974011
NM_201384.3(PLEC):c.10612T>A (p.Leu3538Met) rs6992333
NM_201384.3(PLEC):c.10636G>A (p.Ala3546Thr)
NM_201384.3(PLEC):c.10649A>C (p.Glu3550Ala) rs1821633969
NM_201384.3(PLEC):c.10649A>T (p.Glu3550Val) rs1821633969
NM_201384.3(PLEC):c.10660A>C (p.Thr3554Pro) rs2130968063
NM_201384.3(PLEC):c.10661C>A (p.Thr3554Asn) rs782017839
NM_201384.3(PLEC):c.10669G>A (p.Val3557Met)
NM_201384.3(PLEC):c.10707G>T (p.Glu3569Asp)
NM_201384.3(PLEC):c.10715T>A (p.Ile3572Asn)
NM_201384.3(PLEC):c.10722T>G (p.Ile3574Met) rs1447595261
NM_201384.3(PLEC):c.10735A>C (p.Ser3579Arg)
NM_201384.3(PLEC):c.10748CCA[1] (p.Thr3584del)
NM_201384.3(PLEC):c.1076C>G (p.Pro359Arg) rs1042165847
NM_201384.3(PLEC):c.10775A>T (p.Gln3592Leu)
NM_201384.3(PLEC):c.10780G>C (p.Asp3594His)
NM_201384.3(PLEC):c.10815G>A (p.Met3605Ile) rs1554676882
NM_201384.3(PLEC):c.1082A>G (p.Tyr361Cys)
NM_201384.3(PLEC):c.10835G>C (p.Arg3612Pro)
NM_201384.3(PLEC):c.10869C>G (p.Ile3623Met)
NM_201384.3(PLEC):c.1087C>T (p.Pro363Ser)
NM_201384.3(PLEC):c.10895T>C (p.Ile3632Thr)
NM_201384.3(PLEC):c.10906G>A (p.Gly3636Ser)
NM_201384.3(PLEC):c.10913CCT[1] (p.Ser3639del)
NM_201384.3(PLEC):c.10918T>G (p.Tyr3640Asp) rs2130949680
NM_201384.3(PLEC):c.10919A>C (p.Tyr3640Ser)
NM_201384.3(PLEC):c.10937G>C (p.Arg3646Pro) rs562181035
NM_201384.3(PLEC):c.10946C>T (p.Ala3649Val)
NM_201384.3(PLEC):c.10950G>T (p.Glu3650Asp) rs782756562
NM_201384.3(PLEC):c.10966C>G (p.Arg3656Gly) rs782033096
NM_201384.3(PLEC):c.10966C>T (p.Arg3656Trp)
NM_201384.3(PLEC):c.1096G>A (p.Val366Met)
NM_201384.3(PLEC):c.10991A>G (p.Asn3664Ser)
NM_201384.3(PLEC):c.10999C>G (p.Arg3667Gly) rs373318830
NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln) rs369798520
NM_201384.3(PLEC):c.11000G>T (p.Arg3667Leu) rs369798520
NM_201384.3(PLEC):c.11006G>A (p.Gly3669Asp) rs1554676292
NM_201384.3(PLEC):c.1100A>G (p.Glu367Gly)
NM_201384.3(PLEC):c.11021G>A (p.Arg3674His) rs782720846
NM_201384.3(PLEC):c.11026G>C (p.Ala3676Pro) rs1821473306
NM_201384.3(PLEC):c.11027C>A (p.Ala3676Asp)
NM_201384.3(PLEC):c.1102_1104del (p.Lys368del)
NM_201384.3(PLEC):c.11056C>T (p.Leu3686Phe)
NM_201384.3(PLEC):c.11066C>G (p.Thr3689Arg)
NM_201384.3(PLEC):c.11069G>A (p.Gly3690Asp)
NM_201384.3(PLEC):c.11074G>A (p.Val3692Met)
NM_201384.3(PLEC):c.11080G>T (p.Gly3694Cys) rs1554676086
NM_201384.3(PLEC):c.1108T>C (p.Trp370Arg)
NM_201384.3(PLEC):c.11122C>G (p.Gln3708Glu)
NM_201384.3(PLEC):c.11123A>G (p.Gln3708Arg) rs1821437809
NM_201384.3(PLEC):c.11126C>T (p.Ala3709Val) rs1039508621
NM_201384.3(PLEC):c.1112G>A (p.Gly371Asp)
NM_201384.3(PLEC):c.11150C>T (p.Ala3717Val) rs375586872
NM_201384.3(PLEC):c.11171T>C (p.Leu3724Pro)
NM_201384.3(PLEC):c.11214G>C (p.Lys3738Asn) rs1821401790
NM_201384.3(PLEC):c.11215G>A (p.Gly3739Arg) rs547128082
NM_201384.3(PLEC):c.11216G>A (p.Gly3739Glu) rs1586784543
NM_201384.3(PLEC):c.11246G>A (p.Arg3749Gln)
NM_201384.3(PLEC):c.11266G>A (p.Glu3756Lys)
NM_201384.3(PLEC):c.11266G>C (p.Glu3756Gln) rs369563702
NM_201384.3(PLEC):c.11279G>A (p.Arg3760His)
NM_201384.3(PLEC):c.1127C>T (p.Ala376Val) rs1554720663
NM_201384.3(PLEC):c.11288C>G (p.Ser3763Trp) rs377598440
NM_201384.3(PLEC):c.11299G>A (p.Ala3767Thr)
NM_201384.3(PLEC):c.113-3C>A rs1587225364
NM_201384.3(PLEC):c.11302G>A (p.Val3768Ile)
NM_201384.3(PLEC):c.11306C>T (p.Thr3769Ile) rs1184964710
NM_201384.3(PLEC):c.11309G>A (p.Gly3770Asp) rs1554675497
NM_201384.3(PLEC):c.11315G>C (p.Arg3772Pro) rs373965625
NM_201384.3(PLEC):c.11317G>A (p.Asp3773Asn)
NM_201384.3(PLEC):c.11342C>T (p.Ser3781Leu)
NM_201384.3(PLEC):c.11344C>G (p.Leu3782Val)
NM_201384.3(PLEC):c.11344C>T (p.Leu3782Phe) rs1554675399
NM_201384.3(PLEC):c.11353G>A (p.Ala3785Thr) rs1554675372
NM_201384.3(PLEC):c.11375C>T (p.Pro3792Leu)
NM_201384.3(PLEC):c.11387C>A (p.Ala3796Asp) rs886044776
NM_201384.3(PLEC):c.11387C>T (p.Ala3796Val)
NM_201384.3(PLEC):c.1138C>T (p.Arg380Trp)
NM_201384.3(PLEC):c.11392C>G (p.Arg3798Gly) rs782111846
NM_201384.3(PLEC):c.11392C>T (p.Arg3798Trp) rs782111846
NM_201384.3(PLEC):c.1139G>A (p.Arg380Gln) rs1410648446
NM_201384.3(PLEC):c.11411T>C (p.Leu3804Pro) rs1821314879
NM_201384.3(PLEC):c.11419G>A (p.Gly3807Ser)
NM_201384.3(PLEC):c.11435C>T (p.Pro3812Leu)
NM_201384.3(PLEC):c.11450A>G (p.His3817Arg) rs2130912080
NM_201384.3(PLEC):c.11451C>G (p.His3817Gln)
NM_201384.3(PLEC):c.11452C>T (p.Leu3818Phe)
NM_201384.3(PLEC):c.11483A>G (p.Tyr3828Cys)
NM_201384.3(PLEC):c.11494G>A (p.Asp3832Asn)
NM_201384.3(PLEC):c.11505C>A (p.Asp3835Glu)
NM_201384.3(PLEC):c.11518C>T (p.Pro3840Ser)
NM_201384.3(PLEC):c.11530C>T (p.Arg3844Cys)
NM_201384.3(PLEC):c.11546C>T (p.Pro3849Leu)
NM_201384.3(PLEC):c.11555A>G (p.Asp3852Gly) rs1586777085
NM_201384.3(PLEC):c.11557G>A (p.Glu3853Lys)
NM_201384.3(PLEC):c.11627_11628delinsAC (p.Pro3876His) rs1554674298
NM_201384.3(PLEC):c.11639C>T (p.Ala3880Val) rs1554674245
NM_201384.3(PLEC):c.11655C>G (p.Phe3885Leu)
NM_201384.3(PLEC):c.11665C>T (p.Arg3889Trp) rs1286894043
NM_201384.3(PLEC):c.1169+5G>A rs368341687
NM_201384.3(PLEC):c.11699C>T (p.Ser3900Leu) rs1821166848
NM_201384.3(PLEC):c.11711A>G (p.Asp3904Gly)
NM_201384.3(PLEC):c.11713G>A (p.Glu3905Lys)
NM_201384.3(PLEC):c.11716G>A (p.Ala3906Thr)
NM_201384.3(PLEC):c.11731C>A (p.Leu3911Met) rs2130890393
NM_201384.3(PLEC):c.11747C>T (p.Thr3916Ile)
NM_201384.3(PLEC):c.11758G>A (p.Glu3920Lys)
NM_201384.3(PLEC):c.11762T>A (p.Val3921Asp)
NM_201384.3(PLEC):c.11765C>G (p.Thr3922Ser)
NM_201384.3(PLEC):c.11767A>G (p.Lys3923Glu) rs886044814
NM_201384.3(PLEC):c.11824G>T (p.Ala3942Ser) rs370908106
NM_201384.3(PLEC):c.11843C>G (p.Ser3948Trp)
NM_201384.3(PLEC):c.11845G>A (p.Val3949Met) rs1554673647
NM_201384.3(PLEC):c.11845G>C (p.Val3949Leu) rs1554673647
NM_201384.3(PLEC):c.11867G>T (p.Gly3956Val)
NM_201384.3(PLEC):c.11879C>G (p.Pro3960Arg)
NM_201384.3(PLEC):c.1187G>A (p.Arg396His) rs893559839
NM_201384.3(PLEC):c.11885_11886inv (p.Thr3962Met)
NM_201384.3(PLEC):c.11896C>T (p.Leu3966Phe) rs1821098510
NM_201384.3(PLEC):c.1189A>G (p.Ile397Val) rs781822034
NM_201384.3(PLEC):c.1189A>T (p.Ile397Phe)
NM_201384.3(PLEC):c.11905G>A (p.Ala3969Thr) rs1554673504
NM_201384.3(PLEC):c.11921G>C (p.Gly3974Ala) rs1554673455
NM_201384.3(PLEC):c.11932G>C (p.Asp3978His)
NM_201384.3(PLEC):c.11952G>C (p.Lys3984Asn)
NM_201384.3(PLEC):c.11979G>A (p.Met3993Ile)
NM_201384.3(PLEC):c.11992C>T (p.Pro3998Ser) rs2130875727
NM_201384.3(PLEC):c.119G>A (p.Arg40Gln)
NM_201384.3(PLEC):c.12004_12009del (p.Asp4002_Lys4003del)
NM_201384.3(PLEC):c.12006C>A (p.Asp4002Glu) rs368603624
NM_201384.3(PLEC):c.12031G>A (p.Val4011Ile)
NM_201384.3(PLEC):c.1208T>C (p.Met403Thr)
NM_201384.3(PLEC):c.12094G>T (p.Gly4032Cys) rs1821039505
NM_201384.3(PLEC):c.12109G>T (p.Asp4037Tyr) rs2130869272
NM_201384.3(PLEC):c.12116G>A (p.Gly4039Asp)
NM_201384.3(PLEC):c.12127C>G (p.Leu4043Val)
NM_201384.3(PLEC):c.12134C>G (p.Ala4045Gly)
NM_201384.3(PLEC):c.12139A>G (p.Ile4047Val)
NM_201384.3(PLEC):c.12170A>G (p.Glu4057Gly)
NM_201384.3(PLEC):c.12178C>T (p.Arg4060Trp) rs782164454
NM_201384.3(PLEC):c.12187G>A (p.Val4063Met)
NM_201384.3(PLEC):c.12187G>C (p.Val4063Leu)
NM_201384.3(PLEC):c.12199T>C (p.Tyr4067His)
NM_201384.3(PLEC):c.12206G>A (p.Arg4069His)
NM_201384.3(PLEC):c.12218A>G (p.Asp4073Gly) rs1554672558
NM_201384.3(PLEC):c.12220GAG[1] (p.Glu4075del)
NM_201384.3(PLEC):c.12227T>C (p.Met4076Thr)
NM_201384.3(PLEC):c.12242C>G (p.Thr4081Ser)
NM_201384.3(PLEC):c.12277C>T (p.Pro4093Ser) rs782185534
NM_201384.3(PLEC):c.1228G>A (p.Glu410Lys) rs1828207867
NM_201384.3(PLEC):c.12334C>T (p.Pro4112Ser)
NM_201384.3(PLEC):c.12339G>C (p.Gln4113His)
NM_201384.3(PLEC):c.1233G>T (p.Gln411His) rs782308508
NM_201384.3(PLEC):c.12341C>A (p.Thr4114Lys)
NM_201384.3(PLEC):c.12352C>T (p.Leu4118Phe)
NM_201384.3(PLEC):c.12358C>T (p.Pro4120Ser)
NM_201384.3(PLEC):c.12367_12369del (p.Glu4123del) rs782364560
NM_201384.3(PLEC):c.12379G>A (p.Glu4127Lys) rs2130854010
NM_201384.3(PLEC):c.12406G>A (p.Val4136Met)
NM_201384.3(PLEC):c.12406G>C (p.Val4136Leu) rs749212061
NM_201384.3(PLEC):c.12415C>T (p.Arg4139Cys)
NM_201384.3(PLEC):c.1247_1248delinsTT (p.Asp416Val)
NM_201384.3(PLEC):c.12484C>G (p.Leu4162Val) rs1554671816
NM_201384.3(PLEC):c.1248C>A (p.Asp416Glu) rs572481168
NM_201384.3(PLEC):c.12494A>T (p.His4165Leu) rs782308478
NM_201384.3(PLEC):c.12495C>A (p.His4165Gln)
NM_201384.3(PLEC):c.1249G>A (p.Ala417Thr) rs781879136
NM_201384.3(PLEC):c.124C>T (p.Arg42Cys)
NM_201384.3(PLEC):c.12500C>T (p.Thr4167Met) rs782411778
NM_201384.3(PLEC):c.12511C>A (p.Leu4171Met)
NM_201384.3(PLEC):c.12512T>C (p.Leu4171Pro) rs1820896473
NM_201384.3(PLEC):c.1252C>G (p.Leu418Val) rs782155361
NM_201384.3(PLEC):c.12535GAG[1] (p.Glu4180del) rs2130844523
NM_201384.3(PLEC):c.12557C>T (p.Ser4186Leu)
NM_201384.3(PLEC):c.12592C>T (p.Arg4198Cys)
NM_201384.3(PLEC):c.12596C>G (p.Ser4199Cys)
NM_201384.3(PLEC):c.12598G>A (p.Gly4200Arg)
NM_201384.3(PLEC):c.1261T>C (p.Ser421Pro) rs2132009259
NM_201384.3(PLEC):c.1263+6G>C
NM_201384.3(PLEC):c.1263+6G>T rs782820595
NM_201384.3(PLEC):c.1263G>C (p.Ser421=)
NM_201384.3(PLEC):c.1264-3C>G
NM_201384.3(PLEC):c.1264-3C>T
NM_201384.3(PLEC):c.12646C>A (p.Arg4216Ser)
NM_201384.3(PLEC):c.12647G>T (p.Arg4216Leu) rs151106439
NM_201384.3(PLEC):c.12652G>C (p.Ala4218Pro)
NM_201384.3(PLEC):c.12668G>A (p.Arg4223His)
NM_201384.3(PLEC):c.12674_12700del (p.Gly4225_Ala4233del)
NM_201384.3(PLEC):c.12679C>G (p.Leu4227Val) rs782010335
NM_201384.3(PLEC):c.12683C>T (p.Ser4228Phe)
NM_201384.3(PLEC):c.12685A>G (p.Ile4229Val)
NM_201384.3(PLEC):c.12705G>A (p.Met4235Ile)
NM_201384.3(PLEC):c.12730C>G (p.Arg4244Gly)
NM_201384.3(PLEC):c.12736C>G (p.Arg4246Gly)
NM_201384.3(PLEC):c.12736C>T (p.Arg4246Cys)
NM_201384.3(PLEC):c.12749_12751del (p.Val4250del) rs1434994443
NM_201384.3(PLEC):c.12754T>C (p.Ser4252Pro) rs1820807870
NM_201384.3(PLEC):c.12755CCT[3] (p.Ser4255del)
NM_201384.3(PLEC):c.12758C>T (p.Ser4253Phe) rs1554670852
NM_201384.3(PLEC):c.12776G>A (p.Ser4259Asn) rs1220515680
NM_201384.3(PLEC):c.1279G>T (p.Ala427Ser)
NM_201384.3(PLEC):c.12802G>T (p.Ala4268Ser)
NM_201384.3(PLEC):c.12803C>T (p.Ala4268Val)
NM_201384.3(PLEC):c.12805T>G (p.Ser4269Ala)
NM_201384.3(PLEC):c.1280C>T (p.Ala427Val) rs1554719371
NM_201384.3(PLEC):c.12812_12813inv (p.Ser4271Leu)
NM_201384.3(PLEC):c.12814G>C (p.Asp4272His) rs1820781719
NM_201384.3(PLEC):c.12845G>A (p.Gly4282Asp)
NM_201384.3(PLEC):c.12868G>A (p.Glu4290Lys) rs2130820629
NM_201384.3(PLEC):c.1286G>A (p.Gly429Asp) rs886044893
NM_201384.3(PLEC):c.12892A>T (p.Met4298Leu)
NM_201384.3(PLEC):c.12894G>T (p.Met4298Ile) rs2130819220
NM_201384.3(PLEC):c.12895C>A (p.His4299Asn) rs1820758402
NM_201384.3(PLEC):c.12899G>A (p.Arg4300Gln)
NM_201384.3(PLEC):c.1290A>C (p.Lys430Asn)
NM_201384.3(PLEC):c.12919A>T (p.Thr4307Ser)
NM_201384.3(PLEC):c.1291G>A (p.Val431Met)
NM_201384.3(PLEC):c.12928C>T (p.Arg4310Trp) rs782269716
NM_201384.3(PLEC):c.12929G>A (p.Arg4310Gln)
NM_201384.3(PLEC):c.12941C>T (p.Ala4314Val) rs1057519154
NM_201384.3(PLEC):c.12955G>A (p.Gly4319Arg) rs782444726
NM_201384.3(PLEC):c.12978C>A (p.Thr4326=) rs781832846
NM_201384.3(PLEC):c.12990C>G (p.Phe4330Leu) rs2857821
NM_201384.3(PLEC):c.12997A>G (p.Thr4333Ala) rs1554670189
NM_201384.3(PLEC):c.13010A>G (p.Asn4337Ser)
NM_201384.3(PLEC):c.1301G>C (p.Arg434Pro) rs201336009
NM_201384.3(PLEC):c.13026C>G (p.Asp4342Glu)
NM_201384.3(PLEC):c.13042C>T (p.Arg4348Cys)
NM_201384.3(PLEC):c.13066_13067delinsGC (p.Phe4356Ala) rs1820705529
NM_201384.3(PLEC):c.13088G>A (p.Arg4363His)
NM_201384.3(PLEC):c.1309G>A (p.Glu437Lys)
NM_201384.3(PLEC):c.13112C>T (p.Ala4371Val) rs1820690934
NM_201384.3(PLEC):c.13130del (p.Gly4377fs) rs2130806650
NM_201384.3(PLEC):c.13142A>G (p.Tyr4381Cys)
NM_201384.3(PLEC):c.13144G>A (p.Glu4382Lys)
NM_201384.3(PLEC):c.13147G>T (p.Ala4383Ser)
NM_201384.3(PLEC):c.13168G>T (p.Val4390Leu) rs1554669843
NM_201384.3(PLEC):c.1318C>T (p.Arg440Trp)
NM_201384.3(PLEC):c.1319G>A (p.Arg440Gln)
NM_201384.3(PLEC):c.131A>G (p.Gln44Arg)
NM_201384.3(PLEC):c.13208C>T (p.Pro4403Leu) rs781860439
NM_201384.3(PLEC):c.13210G>A (p.Gly4404Ser) rs1166340716
NM_201384.3(PLEC):c.13214G>A (p.Arg4405His) rs1554669717
NM_201384.3(PLEC):c.13216G>T (p.Val4406Leu)
NM_201384.3(PLEC):c.13218_13219delinsTT (p.Pro4407Ser) rs2130801721
NM_201384.3(PLEC):c.13219C>T (p.Pro4407Ser)
NM_201384.3(PLEC):c.13220C>G (p.Pro4407Arg) rs1554669693
NM_201384.3(PLEC):c.13220C>T (p.Pro4407Leu) rs1554669693
NM_201384.3(PLEC):c.13225G>A (p.Asp4409Asn)
NM_201384.3(PLEC):c.13228G>A (p.Glu4410Lys)
NM_201384.3(PLEC):c.13232C>T (p.Ala4411Val)
NM_201384.3(PLEC):c.13273C>G (p.Leu4425Val) rs1820629025
NM_201384.3(PLEC):c.13283T>C (p.Val4428Ala)
NM_201384.3(PLEC):c.13298A>G (p.Lys4433Arg)
NM_201384.3(PLEC):c.13307C>G (p.Thr4436Ser) rs1554669404
NM_201384.3(PLEC):c.13307C>T (p.Thr4436Ile) rs1554669404
NM_201384.3(PLEC):c.1331A>C (p.Lys444Thr)
NM_201384.3(PLEC):c.13323G>C (p.Lys4441Asn)
NM_201384.3(PLEC):c.1334C>T (p.Ala445Val)
NM_201384.3(PLEC):c.13355G>A (p.Arg4452His)
NM_201384.3(PLEC):c.13367A>G (p.Glu4456Gly)
NM_201384.3(PLEC):c.13384C>T (p.Arg4462Trp)
NM_201384.3(PLEC):c.13421A>C (p.Tyr4474Ser)
NM_201384.3(PLEC):c.13426A>G (p.Ser4476Gly)
NM_201384.3(PLEC):c.13427G>T (p.Ser4476Ile) rs2130787290
NM_201384.3(PLEC):c.1343T>C (p.Met448Thr) rs2131966492
NM_201384.3(PLEC):c.13445G>T (p.Gly4482Val) rs1554668909
NM_201384.3(PLEC):c.13461_13462inv (p.Gly4488Ser)
NM_201384.3(PLEC):c.13468C>A (p.Arg4490Ser) rs782717056
NM_201384.3(PLEC):c.13468C>T (p.Arg4490Cys) rs782717056
NM_201384.3(PLEC):c.13479_13490del (p.4491TGSR[1]) rs782472576
NM_201384.3(PLEC):c.13479_13490dup (p.4491TGSR[3]) rs782472576
NM_201384.3(PLEC):c.13482_13483delinsGG (p.Thr4495Ala) rs1586744441
NM_201384.3(PLEC):c.13482_13493dup (p.4491TGSR[3]) rs1820517130
NM_201384.3(PLEC):c.13494_13505del (p.Ala4499_Arg4502del) rs782675738
NM_201384.3(PLEC):c.13494_13505dup (p.Arg4502_Arg4503insAlaGlySerArg)
NM_201384.3(PLEC):c.13499G>A (p.Gly4500Asp)
NM_201384.3(PLEC):c.1349G>A (p.Arg450Gln)
NM_201384.3(PLEC):c.13501_13525del (p.Ser4501fs) rs1586743291
NM_201384.3(PLEC):c.13504C>T (p.Arg4502Cys)
NM_201384.3(PLEC):c.13507C>T (p.Arg4503Cys)
NM_201384.3(PLEC):c.13508G>A (p.Arg4503His)
NM_201384.3(PLEC):c.13525A>G (p.Thr4509Ala) rs1554668550
NM_201384.3(PLEC):c.1355T>C (p.Leu452Pro)
NM_201384.3(PLEC):c.13562C>T (p.Ser4521Phe) rs1052855071
NM_201384.3(PLEC):c.13565A>C (p.Tyr4522Ser)
NM_201384.3(PLEC):c.13566CTC[2] (p.Ser4525del) rs1224255215
NM_201384.3(PLEC):c.13568C>A (p.Ser4523Tyr)
NM_201384.3(PLEC):c.13568C>T (p.Ser4523Phe)
NM_201384.3(PLEC):c.13579T>C (p.Tyr4527His) rs1286310928
NM_201384.3(PLEC):c.13580A>G (p.Tyr4527Cys)
NM_201384.3(PLEC):c.13580A>T (p.Tyr4527Phe) rs1563915780
NM_201384.3(PLEC):c.13582G>A (p.Gly4528Ser)
NM_201384.3(PLEC):c.13588C>T (p.Arg4530Cys)
NM_201384.3(PLEC):c.13594G>A (p.Ala4532Thr)
NM_201384.3(PLEC):c.13595C>G (p.Ala4532Gly)
NM_201384.3(PLEC):c.13601G>A (p.Gly4534Glu) rs2130772157
NM_201384.3(PLEC):c.13622G>C (p.Gly4541Ala)
NM_201384.3(PLEC):c.13622G>T (p.Gly4541Val) rs1554668205
NM_201384.3(PLEC):c.13631_13632del (p.Ser4544fs) rs1563914919
NM_201384.3(PLEC):c.1394C>T (p.Pro465Leu)
NM_201384.3(PLEC):c.1399G>A (p.Gly467Ser) rs996808279
NM_201384.3(PLEC):c.1400G>A (p.Gly467Asp) rs1228728894
NM_201384.3(PLEC):c.1402G>C (p.Glu468Gln)
NM_201384.3(PLEC):c.1410G>A (p.Met470Ile)
NM_201384.3(PLEC):c.1414C>T (p.Arg472Cys)
NM_201384.3(PLEC):c.1415G>A (p.Arg472His)
NM_201384.3(PLEC):c.1415G>T (p.Arg472Leu) rs374962842
NM_201384.3(PLEC):c.1418+5G>T
NM_201384.3(PLEC):c.1419-10G>T rs1827885925
NM_201384.3(PLEC):c.1419G>A (p.Arg473=)
NM_201384.3(PLEC):c.1430T>C (p.Leu477Pro) rs1827879849
NM_201384.3(PLEC):c.1439G>A (p.Arg480His)
NM_201384.3(PLEC):c.1441C>A (p.Leu481Met)
NM_201384.3(PLEC):c.1449_1450insGTCTGCGTGTACCGTCTGCACGAGCGCCTGGTAGCC (p.Ala483_Ile484insValCysValTyrArgLeuHisGluArgLeuValAla) rs782208041
NM_201384.3(PLEC):c.1454G>A (p.Arg485His) rs200328762
NM_201384.3(PLEC):c.1454G>T (p.Arg485Leu) rs200328762
NM_201384.3(PLEC):c.1489G>C (p.Ala497Pro)
NM_201384.3(PLEC):c.1493C>G (p.Ala498Gly)
NM_201384.3(PLEC):c.1514A>G (p.Gln505Arg)
NM_201384.3(PLEC):c.1528A>T (p.Ser510Cys)
NM_201384.3(PLEC):c.1536G>C (p.Gln512His)
NM_201384.3(PLEC):c.1544C>T (p.Pro515Leu) rs782052037
NM_201384.3(PLEC):c.1562C>T (p.Thr521Ile) rs1587097419
NM_201384.3(PLEC):c.1573C>G (p.Leu525Val)
NM_201384.3(PLEC):c.1579G>A (p.Asp527Asn)
NM_201384.3(PLEC):c.1604A>C (p.Asn535Thr)
NM_201384.3(PLEC):c.1630T>C (p.Trp544Arg) rs1554718398
NM_201384.3(PLEC):c.1640A>T (p.Asp547Val)
NM_201384.3(PLEC):c.1646C>T (p.Pro549Leu) rs886044808
NM_201384.3(PLEC):c.1684C>T (p.His562Tyr)
NM_201384.3(PLEC):c.1697A>G (p.Glu566Gly)
NM_201384.3(PLEC):c.1704C>G (p.Phe568Leu) rs1564131156
NM_201384.3(PLEC):c.174+15C>G
NM_201384.3(PLEC):c.1745T>C (p.Leu582Pro) rs1827745982
NM_201384.3(PLEC):c.1747T>C (p.Ser583Pro) rs1827745304
NM_201384.3(PLEC):c.1748C>T (p.Ser583Phe) rs1554717917
NM_201384.3(PLEC):c.1753G>C (p.Ala585Pro) rs368520468
NM_201384.3(PLEC):c.1753G>T (p.Ala585Ser)
NM_201384.3(PLEC):c.1762G>C (p.Gly588Arg)
NM_201384.3(PLEC):c.176C>T (p.Ala59Val) rs530919504
NM_201384.3(PLEC):c.1771C>G (p.Arg591Gly) rs376215217
NM_201384.3(PLEC):c.1778G>A (p.Cys593Tyr) rs782375393
NM_201384.3(PLEC):c.1786C>G (p.Arg596Gly) rs556691235
NM_201384.3(PLEC):c.1828G>A (p.Ala610Thr) rs782696282
NM_201384.3(PLEC):c.1832G>A (p.Arg611His)
NM_201384.3(PLEC):c.1841C>T (p.Ser614Phe)
NM_201384.3(PLEC):c.1846G>C (p.Glu616Gln)
NM_201384.3(PLEC):c.1850G>A (p.Ser617Asn)
NM_201384.3(PLEC):c.1857C>G (p.His619Gln) rs782172883
NM_201384.3(PLEC):c.1867G>A (p.Ala623Thr) rs782254718
NM_201384.3(PLEC):c.1877C>G (p.Thr626Ser)
NM_201384.3(PLEC):c.1877C>T (p.Thr626Ile) rs1827643640
NM_201384.3(PLEC):c.1901A>G (p.Glu634Gly)
NM_201384.3(PLEC):c.1903A>G (p.Lys635Glu)
NM_201384.3(PLEC):c.1907A>G (p.Glu636Gly)
NM_201384.3(PLEC):c.1914G>C (p.Glu638Asp)
NM_201384.3(PLEC):c.1915G>A (p.Glu639Lys) rs1162838758
NM_201384.3(PLEC):c.1927G>C (p.Asp643His) rs375857355
NM_201384.3(PLEC):c.1936G>A (p.Asp646Asn)
NM_201384.3(PLEC):c.1936G>C (p.Asp646His)
NM_201384.3(PLEC):c.1940G>A (p.Arg647His)
NM_201384.3(PLEC):c.1949A>G (p.Asn650Ser)
NM_201384.3(PLEC):c.1952T>A (p.Met651Lys) rs1260484783
NM_201384.3(PLEC):c.1960AAG[1] (p.Lys655del) rs1564125700
NM_201384.3(PLEC):c.1965G>T (p.Lys655Asn)
NM_201384.3(PLEC):c.1966G>A (p.Glu656Lys) rs2131899075
NM_201384.3(PLEC):c.1976C>T (p.Ser659Leu)
NM_201384.3(PLEC):c.1977+6C>T
NM_201384.3(PLEC):c.1977G>A (p.Ser659=)
NM_201384.3(PLEC):c.1977G>T (p.Ser659=) rs536284705
NM_201384.3(PLEC):c.1978G>T (p.Ala660Ser) rs1827539865
NM_201384.3(PLEC):c.1987C>G (p.Arg663Gly) rs372672134
NM_201384.3(PLEC):c.1987C>T (p.Arg663Trp) rs372672134
NM_201384.3(PLEC):c.2006AGA[2] (p.Lys671del) rs782157103
NM_201384.3(PLEC):c.2012A>T (p.Lys671Met) rs782320963
NM_201384.3(PLEC):c.2036G>A (p.Gly679Glu) rs1345254413
NM_201384.3(PLEC):c.2063C>A (p.Pro688Gln) rs377358791
NM_201384.3(PLEC):c.2066C>T (p.Ala689Val) rs2131884804
NM_201384.3(PLEC):c.2068C>G (p.Arg690Gly) rs782788386
NM_201384.3(PLEC):c.2069G>T (p.Arg690Leu) rs781917708
NM_201384.3(PLEC):c.2077G>A (p.Val693Met) rs782375414
NM_201384.3(PLEC):c.2082+6G>T rs782596727
NM_201384.3(PLEC):c.2083-4G>T rs555646129
NM_201384.3(PLEC):c.2116T>C (p.Trp706Arg) rs1554716037
NM_201384.3(PLEC):c.2119A>T (p.Met707Leu) rs1827418770
NM_201384.3(PLEC):c.211C>T (p.Arg71Cys) rs781901742
NM_201384.3(PLEC):c.2123T>C (p.Leu708Pro)
NM_201384.3(PLEC):c.2134T>G (p.Cys712Gly)
NM_201384.3(PLEC):c.2138G>C (p.Cys713Ser) rs553811387
NM_201384.3(PLEC):c.2143G>A (p.Glu715Lys) rs369024560
NM_201384.3(PLEC):c.2143G>C (p.Glu715Gln)
NM_201384.3(PLEC):c.2145G>T (p.Glu715Asp)
NM_201384.3(PLEC):c.214G>A (p.Asp72Asn)
NM_201384.3(PLEC):c.2164G>A (p.Ala722Thr)
NM_201384.3(PLEC):c.2179-17C>G
NM_201384.3(PLEC):c.2195G>A (p.Arg732Gln) rs563070961
NM_201384.3(PLEC):c.2207G>A (p.Gly736Glu) rs951623918
NM_201384.3(PLEC):c.2210A>G (p.Gln737Arg) rs1554715549
NM_201384.3(PLEC):c.2228A>C (p.Glu743Ala)
NM_201384.3(PLEC):c.2231C>T (p.Ala744Val) rs1587061761
NM_201384.3(PLEC):c.2236C>G (p.Arg746Gly)
NM_201384.3(PLEC):c.2236C>T (p.Arg746Cys) rs782156696
NM_201384.3(PLEC):c.2250T>A (p.Ser750Arg)
NM_201384.3(PLEC):c.2257C>T (p.Arg753Cys) rs1827269646
NM_201384.3(PLEC):c.2261C>G (p.Ser754Cys)
NM_201384.3(PLEC):c.226C>G (p.Leu76Val) rs782620005
NM_201384.3(PLEC):c.2275C>T (p.Arg759Trp) rs781846297
NM_201384.3(PLEC):c.2286C>G (p.Asp762Glu) rs1426887597
NM_201384.3(PLEC):c.2294A>T (p.Gln765Leu)
NM_201384.3(PLEC):c.2326G>A (p.Glu776Lys)
NM_201384.3(PLEC):c.2326G>C (p.Glu776Gln)
NM_201384.3(PLEC):c.2330A>G (p.Tyr777Cys) rs1554714090
NM_201384.3(PLEC):c.2359C>T (p.Arg787Trp)
NM_201384.3(PLEC):c.2360G>T (p.Arg787Leu) rs1319068044
NM_201384.3(PLEC):c.2367G>T (p.Lys789Asn) rs2131792951
NM_201384.3(PLEC):c.2369C>A (p.Ala790Asp) rs2131792648
NM_201384.3(PLEC):c.2375T>G (p.Val792Gly)
NM_201384.3(PLEC):c.2390G>A (p.Arg797His)
NM_201384.3(PLEC):c.2407A>C (p.Met803Leu) rs1554713831
NM_201384.3(PLEC):c.2414G>A (p.Gly805Asp)
NM_201384.3(PLEC):c.2423C>A (p.Pro808His) rs561310906
NM_201384.3(PLEC):c.2434G>A (p.Val812Met) rs372398638
NM_201384.3(PLEC):c.2440G>A (p.Asp814Asn)
NM_201384.3(PLEC):c.2457+5G>A
NM_201384.3(PLEC):c.2458G>T (p.Val820Leu) rs781793434
NM_201384.3(PLEC):c.2483G>A (p.Cys828Tyr)
NM_201384.3(PLEC):c.2488C>G (p.Leu830Val)
NM_201384.3(PLEC):c.2492T>G (p.Val831Gly)
NM_201384.3(PLEC):c.2507C>T (p.Pro836Leu)
NM_201384.3(PLEC):c.251C>T (p.Ser84Leu)
NM_201384.3(PLEC):c.2524C>T (p.Leu842Phe) rs905343536
NM_201384.3(PLEC):c.2534C>T (p.Ser845Phe)
NM_201384.3(PLEC):c.2537G>A (p.Gly846Asp)
NM_201384.3(PLEC):c.2560G>A (p.Val854Met) rs370464447
NM_201384.3(PLEC):c.2560G>T (p.Val854Leu) rs370464447
NM_201384.3(PLEC):c.2594C>T (p.Ala865Val)
NM_201384.3(PLEC):c.2609C>A (p.Thr870Asn)
NM_201384.3(PLEC):c.2612+5G>C
NM_201384.3(PLEC):c.2613-8C>G rs376936955
NM_201384.3(PLEC):c.2613G>A (p.Arg871=)
NM_201384.3(PLEC):c.261C>G (p.Ser87Arg)
NM_201384.3(PLEC):c.2620G>A (p.Ala874Thr) rs782212880
NM_201384.3(PLEC):c.2626C>T (p.His876Tyr)
NM_201384.3(PLEC):c.2633C>T (p.Ala878Val)
NM_201384.3(PLEC):c.264+4C>G
NM_201384.3(PLEC):c.264+4C>T rs369467661
NM_201384.3(PLEC):c.264+5G>T
NM_201384.3(PLEC):c.265-9_265-6del rs782465197
NM_201384.3(PLEC):c.2662G>T (p.Val888Leu) rs377225173
NM_201384.3(PLEC):c.2670G>A (p.Met890Ile)
NM_201384.3(PLEC):c.268C>T (p.Arg90Trp) rs782648152
NM_201384.3(PLEC):c.2690A>G (p.Gln897Arg)
NM_201384.3(PLEC):c.2692A>C (p.Ser898Arg)
NM_201384.3(PLEC):c.2693G>T (p.Ser898Ile)
NM_201384.3(PLEC):c.269G>A (p.Arg90Gln)
NM_201384.3(PLEC):c.2707G>A (p.Val903Met)
NM_201384.3(PLEC):c.2711A>T (p.Gln904Leu)
NM_201384.3(PLEC):c.2716A>T (p.Ile906Phe)
NM_201384.3(PLEC):c.2720G>T (p.Arg907Leu)
NM_201384.3(PLEC):c.2735C>G (p.Ala912Gly)
NM_201384.3(PLEC):c.2740-3C>A rs782178702
NM_201384.3(PLEC):c.2740-3C>T rs782178702
NM_201384.3(PLEC):c.2740-3del rs1826577847
NM_201384.3(PLEC):c.2744G>A (p.Arg915His) rs781951273
NM_201384.3(PLEC):c.2744G>C (p.Arg915Pro)
NM_201384.3(PLEC):c.2744G>T (p.Arg915Leu) rs781951273
NM_201384.3(PLEC):c.2767C>T (p.Arg923Cys)
NM_201384.3(PLEC):c.2768G>T (p.Arg923Leu)
NM_201384.3(PLEC):c.276G>C (p.Lys92Asn)
NM_201384.3(PLEC):c.2795A>G (p.His932Arg) rs782665023
NM_201384.3(PLEC):c.2821C>A (p.Gln941Lys) rs782717897
NM_201384.3(PLEC):c.2825A>T (p.Asp942Val)
NM_201384.3(PLEC):c.2826C>G (p.Asp942Glu)
NM_201384.3(PLEC):c.283A>G (p.Met95Val) rs1554724241
NM_201384.3(PLEC):c.2840G>A (p.Gly947Glu)
NM_201384.3(PLEC):c.2863G>A (p.Glu955Lys) rs1015204448
NM_201384.3(PLEC):c.2866C>T (p.Arg956Cys)
NM_201384.3(PLEC):c.2869G>A (p.Glu957Lys)
NM_201384.3(PLEC):c.2875_2876delinsTT (p.Gly959Phe)
NM_201384.3(PLEC):c.2879C>T (p.Ser960Phe) rs782135233
NM_201384.3(PLEC):c.287G>A (p.Arg96His)
NM_201384.3(PLEC):c.2885G>A (p.Ser962Asn) rs1564101094
NM_201384.3(PLEC):c.2888A>G (p.His963Arg) rs781991187
NM_201384.3(PLEC):c.2891A>G (p.His964Arg)
NM_201384.3(PLEC):c.2905C>G (p.Leu969Val) rs1195997039
NM_201384.3(PLEC):c.2929C>G (p.Gln977Glu)
NM_201384.3(PLEC):c.2930A>G (p.Gln977Arg) rs782655797
NM_201384.3(PLEC):c.2942G>A (p.Arg981His)
NM_201384.3(PLEC):c.2944T>A (p.Cys982Ser)
NM_201384.3(PLEC):c.2954G>A (p.Cys985Tyr)
NM_201384.3(PLEC):c.2962G>A (p.Glu988Lys)
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln) rs367627441
NM_201384.3(PLEC):c.2969A>G (p.Lys990Arg)
NM_201384.3(PLEC):c.2975T>C (p.Ile992Thr) rs1554711165
NM_201384.3(PLEC):c.2984_3028del (p.Gln995_Leu1009del) rs1554710983
NM_201384.3(PLEC):c.2992G>A (p.Ala998Thr) rs559552232
NM_201384.3(PLEC):c.3013C>T (p.His1005Tyr) rs781890669
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup) rs782308502
NM_201384.3(PLEC):c.3040G>A (p.Glu1014Lys)
NM_201384.3(PLEC):c.3052G>A (p.Glu1018Lys) rs1554710878
NM_201384.3(PLEC):c.3065G>A (p.Arg1022His) rs782471913
NM_201384.3(PLEC):c.3074A>G (p.Glu1025Gly)
NM_201384.3(PLEC):c.3097G>A (p.Val1033Met)
NM_201384.3(PLEC):c.3115G>A (p.Gly1039Arg) rs1554710525
NM_201384.3(PLEC):c.3147G>C (p.Lys1049Asn)
NM_201384.3(PLEC):c.3148G>C (p.Val1050Leu) rs1554710451
NM_201384.3(PLEC):c.3164A>G (p.Glu1055Gly) rs1554710421
NM_201384.3(PLEC):c.316G>A (p.Ala106Thr) rs781787425
NM_201384.3(PLEC):c.3172C>T (p.Pro1058Ser)
NM_201384.3(PLEC):c.3173C>T (p.Pro1058Leu)
NM_201384.3(PLEC):c.3176C>A (p.Ala1059Glu) rs529986115
NM_201384.3(PLEC):c.3191G>T (p.Arg1064Leu)
NM_201384.3(PLEC):c.3236_3237delinsTA (p.Ser1079Ile)
NM_201384.3(PLEC):c.3242C>T (p.Ser1081Phe) rs1305350735
NM_201384.3(PLEC):c.3247A>G (p.Ile1083Val)
NM_201384.3(PLEC):c.3251A>G (p.Tyr1084Cys) rs1826244056
NM_201384.3(PLEC):c.3262C>G (p.Leu1088Val) rs782370585
NM_201384.3(PLEC):c.3262C>T (p.Leu1088Phe)
NM_201384.3(PLEC):c.3275G>C (p.Ser1092Thr) rs782658183
NM_201384.3(PLEC):c.3283A>G (p.Ile1095Val)
NM_201384.3(PLEC):c.3298G>A (p.Gly1100Arg) rs201404741
NM_201384.3(PLEC):c.3298G>C (p.Gly1100Arg) rs201404741
NM_201384.3(PLEC):c.331C>T (p.Arg111Trp)
NM_201384.3(PLEC):c.3322C>A (p.His1108Asn)
NM_201384.3(PLEC):c.3344C>T (p.Ala1115Val) rs376082569
NM_201384.3(PLEC):c.3364C>T (p.Leu1122Phe)
NM_201384.3(PLEC):c.3399+5C>G rs782197467
NM_201384.3(PLEC):c.3399+5C>T rs782197467
NM_201384.3(PLEC):c.3399+6G>A
NM_201384.3(PLEC):c.3406C>T (p.Arg1136Trp)
NM_201384.3(PLEC):c.3418G>A (p.Glu1140Lys)
NM_201384.3(PLEC):c.3438C>G (p.Phe1146Leu) rs781833275
NM_201384.3(PLEC):c.3439G>A (p.Asp1147Asn)
NM_201384.3(PLEC):c.3442G>C (p.Ala1148Pro) rs370869846
NM_201384.3(PLEC):c.3443C>T (p.Ala1148Val)
NM_201384.3(PLEC):c.3452A>G (p.Asp1151Gly)
NM_201384.3(PLEC):c.3457C>A (p.Leu1153Met)
NM_201384.3(PLEC):c.3476T>C (p.Val1159Ala)
NM_201384.3(PLEC):c.3478G>T (p.Gly1160Trp) rs2131613052
NM_201384.3(PLEC):c.348G>A (p.Lys116=)
NM_201384.3(PLEC):c.3492G>C (p.Gln1164His) rs1554708243
NM_201384.3(PLEC):c.3499_3510del (p.His1167_Arg1170del) rs2131611646
NM_201384.3(PLEC):c.3514G>A (p.Val1172Met) rs3134599
NM_201384.3(PLEC):c.3514G>T (p.Val1172Leu) rs3134599
NM_201384.3(PLEC):c.3533_3565del (p.Arg1178_Trp1188del)
NM_201384.3(PLEC):c.3539G>A (p.Arg1180Gln) rs782477789
NM_201384.3(PLEC):c.3539G>T (p.Arg1180Leu) rs782477789
NM_201384.3(PLEC):c.3551T>C (p.Leu1184Ser) rs1360249382
NM_201384.3(PLEC):c.3558G>T (p.Glu1186Asp) rs782819815
NM_201384.3(PLEC):c.3581A>G (p.Gln1194Arg)
NM_201384.3(PLEC):c.3586G>A (p.Asp1196Asn)
NM_201384.3(PLEC):c.3590T>C (p.Val1197Ala) rs1205506786
NM_201384.3(PLEC):c.3599G>A (p.Arg1200His)
NM_201384.3(PLEC):c.3650A>G (p.Asp1217Gly)
NM_201384.3(PLEC):c.3652C>T (p.Pro1218Ser) rs1586970289
NM_201384.3(PLEC):c.3653C>T (p.Pro1218Leu) rs1435660121
NM_201384.3(PLEC):c.3661G>A (p.Ala1221Thr) rs727504099
NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr) rs782539707
NM_201384.3(PLEC):c.3679A>G (p.Arg1227Gly) rs1554707565
NM_201384.3(PLEC):c.3696G>C (p.Gln1232His) rs1825641725
NM_201384.3(PLEC):c.369T>G (p.Asp123Glu) rs1829237868
NM_201384.3(PLEC):c.3707T>C (p.Met1236Thr)
NM_201384.3(PLEC):c.3725A>G (p.Gln1242Arg)
NM_201384.3(PLEC):c.3726G>T (p.Gln1242His) rs2131600110
NM_201384.3(PLEC):c.3727G>A (p.Ala1243Thr)
NM_201384.3(PLEC):c.3733C>T (p.Arg1245Trp) rs367688739
NM_201384.3(PLEC):c.3745C>T (p.Arg1249Trp) rs201552166
NM_201384.3(PLEC):c.3774C>G (p.Ile1258Met)
NM_201384.3(PLEC):c.3775G>A (p.Glu1259Lys) rs782555191
NM_201384.3(PLEC):c.3778C>T (p.Arg1260Cys) rs151022876
NM_201384.3(PLEC):c.3784G>C (p.Gly1262Arg) rs782158050
NM_201384.3(PLEC):c.378_379inv (p.Asp127Asn)
NM_201384.3(PLEC):c.3793G>C (p.Val1265Leu)
NM_201384.3(PLEC):c.3796G>C (p.Glu1266Gln)
NM_201384.3(PLEC):c.3803G>A (p.Cys1268Tyr)
NM_201384.3(PLEC):c.3810G>T (p.Arg1270Ser)
NM_201384.3(PLEC):c.3812T>C (p.Phe1271Ser) rs945462745
NM_201384.3(PLEC):c.381C>G (p.Asp127Glu) rs185041864
NM_201384.3(PLEC):c.3832G>T (p.Ala1278Ser)
NM_201384.3(PLEC):c.3833C>A (p.Ala1278Asp) rs782444749
NM_201384.3(PLEC):c.3833C>T (p.Ala1278Val)
NM_201384.3(PLEC):c.3881A>T (p.Glu1294Val)
NM_201384.3(PLEC):c.3896C>A (p.Pro1299Gln)
NM_201384.3(PLEC):c.3908C>T (p.Pro1303Leu)
NM_201384.3(PLEC):c.3920C>T (p.Ser1307Leu) rs199796047
NM_201384.3(PLEC):c.3931A>T (p.Ser1311Cys) rs1564076498
NM_201384.3(PLEC):c.3932G>A (p.Ser1311Asn) rs1028404534
NM_201384.3(PLEC):c.3951G>A (p.Val1317=)
NM_201384.3(PLEC):c.3959G>T (p.Arg1320Leu)
NM_201384.3(PLEC):c.3964_3965inv (p.His1322Cys)
NM_201384.3(PLEC):c.3989C>T (p.Thr1330Met)
NM_201384.3(PLEC):c.398C>T (p.Thr133Ile)
NM_201384.3(PLEC):c.3997T>C (p.Tyr1333His)
NM_201384.3(PLEC):c.4000A>G (p.Ile1334Val)
NM_201384.3(PLEC):c.4012A>C (p.Ser1338Arg)
NM_201384.3(PLEC):c.4019C>T (p.Thr1340Ile) rs144371714
NM_201384.3(PLEC):c.4044+4C>G
NM_201384.3(PLEC):c.4045A>T (p.Arg1349Trp)
NM_201384.3(PLEC):c.4049T>C (p.Leu1350Pro)
NM_201384.3(PLEC):c.4062G>C (p.Gln1354His)
NM_201384.3(PLEC):c.4069G>C (p.Glu1357Gln) rs1301230353
NM_201384.3(PLEC):c.4073A>G (p.Glu1358Gly)
NM_201384.3(PLEC):c.4078G>C (p.Glu1360Gln)
NM_201384.3(PLEC):c.4082G>T (p.Arg1361Leu)
NM_201384.3(PLEC):c.4094T>C (p.Val1365Ala)
NM_201384.3(PLEC):c.4097A>T (p.Glu1366Val) rs1824937003
NM_201384.3(PLEC):c.4099G>T (p.Ala1367Ser) rs782149971
NM_201384.3(PLEC):c.4131G>C (p.Glu1377Asp)
NM_201384.3(PLEC):c.4136A>T (p.His1379Leu)
NM_201384.3(PLEC):c.4150G>T (p.Ala1384Ser) rs782681160
NM_201384.3(PLEC):c.4163G>A (p.Arg1388Gln) rs782497322
NM_201384.3(PLEC):c.4163G>T (p.Arg1388Leu)
NM_201384.3(PLEC):c.4181A>G (p.Gln1394Arg)
NM_201384.3(PLEC):c.4192C>G (p.Gln1398Glu)
NM_201384.3(PLEC):c.4205T>A (p.Val1402Glu) rs1824886402
NM_201384.3(PLEC):c.4207_4224dup (p.Ala1408_Val1409insArgArgGluGluAlaAla)
NM_201384.3(PLEC):c.4225G>T (p.Val1409Leu)
NM_201384.3(PLEC):c.4226T>C (p.Val1409Ala) rs1554703722
NM_201384.3(PLEC):c.4226_4228del (p.Val1409del) rs1453624506
NM_201384.3(PLEC):c.4230C>A (p.Asp1410Glu)
NM_201384.3(PLEC):c.4231G>A (p.Ala1411Thr)
NM_201384.3(PLEC):c.4235A>G (p.Gln1412Arg)
NM_201384.3(PLEC):c.4243A>G (p.Lys1415Glu)
NM_201384.3(PLEC):c.4246C>T (p.Arg1416Cys)
NM_201384.3(PLEC):c.4246_4260dup (p.Glu1420_Glu1421insArgSerIleGlnGlu)
NM_201384.3(PLEC):c.4253T>G (p.Ile1418Ser)
NM_201384.3(PLEC):c.4276C>T (p.Arg1426Trp)
NM_201384.3(PLEC):c.4286C>T (p.Ser1429Leu)
NM_201384.3(PLEC):c.4292C>T (p.Ala1431Val)
NM_201384.3(PLEC):c.4309G>A (p.Ala1437Thr)
NM_201384.3(PLEC):c.4310C>T (p.Ala1437Val)
NM_201384.3(PLEC):c.4316A>G (p.Gln1439Arg)
NM_201384.3(PLEC):c.4321G>A (p.Glu1441Lys) rs1824826894
NM_201384.3(PLEC):c.4328C>A (p.Ala1443Asp)
NM_201384.3(PLEC):c.4333C>G (p.Arg1445Gly) rs782018221
NM_201384.3(PLEC):c.4337_4348del (p.Ser1446_Arg1449del) rs2131497439
NM_201384.3(PLEC):c.435+3A>G rs1829221550
NM_201384.3(PLEC):c.435+3A>T rs1829221550
NM_201384.3(PLEC):c.4351GAG[2] (p.Glu1453del)
NM_201384.3(PLEC):c.4362C>G (p.Ile1454Met)
NM_201384.3(PLEC):c.4366G>C (p.Val1456Leu)
NM_201384.3(PLEC):c.4373G>A (p.Arg1458His) rs782720526
NM_201384.3(PLEC):c.4373G>T (p.Arg1458Leu) rs782720526
NM_201384.3(PLEC):c.4390_4392del (p.Thr1464del) rs2131493980
NM_201384.3(PLEC):c.4391C>A (p.Thr1464Asn)
NM_201384.3(PLEC):c.4393G>A (p.Glu1465Lys)
NM_201384.3(PLEC):c.4396C>T (p.Arg1466Cys) rs782015718
NM_201384.3(PLEC):c.4405G>A (p.Gly1469Ser) rs1824783795
NM_201384.3(PLEC):c.4418G>A (p.Gly1473Glu) rs868991549
NM_201384.3(PLEC):c.4435C>T (p.Arg1479Cys)
NM_201384.3(PLEC):c.4438G>T (p.Ala1480Ser) rs781915274
NM_201384.3(PLEC):c.4441C>T (p.Arg1481Trp)
NM_201384.3(PLEC):c.4445C>G (p.Ala1482Gly)
NM_201384.3(PLEC):c.4486G>A (p.Ala1496Thr)
NM_201384.3(PLEC):c.4489G>A (p.Glu1497Lys) rs537020357
NM_201384.3(PLEC):c.4506G>C (p.Gln1502His)
NM_201384.3(PLEC):c.4515C>G (p.Asp1505Glu) rs375697033
NM_201384.3(PLEC):c.4546G>A (p.Glu1516Lys)
NM_201384.3(PLEC):c.4555_4556inv (p.Ser1519Glu)
NM_201384.3(PLEC):c.4569CGAGGC[1] (p.1524EA[1]) rs782365801
NM_201384.3(PLEC):c.4569CGAGGC[3] (p.Ala1527_Ala1528insGluAla)
NM_201384.3(PLEC):c.4574C>T (p.Ala1525Val)
NM_201384.3(PLEC):c.4576G>A (p.Glu1526Lys)
NM_201384.3(PLEC):c.4620G>C (p.Glu1540Asp) rs1554701903
NM_201384.3(PLEC):c.4634C>T (p.Ala1545Val)
NM_201384.3(PLEC):c.4639_4647dup (p.Glu1549_Arg1550insGluAlaGlu)
NM_201384.3(PLEC):c.463T>C (p.Ser155Pro) rs2132125581
NM_201384.3(PLEC):c.4643C>G (p.Ala1548Gly) rs533788232
NM_201384.3(PLEC):c.4666G>A (p.Glu1556Lys)
NM_201384.3(PLEC):c.4669G>A (p.Val1557Met)
NM_201384.3(PLEC):c.4670T>C (p.Val1557Ala)
NM_201384.3(PLEC):c.4673A>G (p.Glu1558Gly)
NM_201384.3(PLEC):c.4680_4681delinsAT (p.Arg1561Trp) rs2131465517
NM_201384.3(PLEC):c.4682G>T (p.Arg1561Leu) rs376840697
NM_201384.3(PLEC):c.4699C>G (p.Leu1567Val)
NM_201384.3(PLEC):c.4702_4710del (p.Glu1568_Ala1570del)
NM_201384.3(PLEC):c.4718G>A (p.Ser1573Asn) rs1554701238
NM_201384.3(PLEC):c.472A>G (p.Met158Val) rs1554722990
NM_201384.3(PLEC):c.4742A>G (p.Lys1581Arg) rs1824566704
NM_201384.3(PLEC):c.4751C>T (p.Ser1584Phe)
NM_201384.3(PLEC):c.4766C>T (p.Thr1589Met)
NM_201384.3(PLEC):c.4781G>C (p.Arg1594Pro) rs564954644
NM_201384.3(PLEC):c.4791GGA[1] (p.Glu1599del)
NM_201384.3(PLEC):c.4793A>G (p.Glu1598Gly)
NM_201384.3(PLEC):c.4795G>C (p.Glu1599Gln) rs782412083
NM_201384.3(PLEC):c.4801G>A (p.Val1601Met)
NM_201384.3(PLEC):c.4802T>A (p.Val1601Glu) rs2131455250
NM_201384.3(PLEC):c.4802T>G (p.Val1601Gly)
NM_201384.3(PLEC):c.4804G>A (p.Ala1602Thr) rs2131454950
NM_201384.3(PLEC):c.4805C>G (p.Ala1602Gly) rs1554700810
NM_201384.3(PLEC):c.4805C>T (p.Ala1602Val)
NM_201384.3(PLEC):c.4811C>A (p.Ala1604Glu) rs1554700789
NM_201384.3(PLEC):c.481A>C (p.Lys161Gln) rs1828941970
NM_201384.3(PLEC):c.4841C>T (p.Ala1614Val)
NM_201384.3(PLEC):c.4861G>A (p.Glu1621Lys)
NM_201384.3(PLEC):c.4865G>A (p.Arg1622Gln)
NM_201384.3(PLEC):c.4867G>T (p.Ala1623Ser)
NM_201384.3(PLEC):c.4868_4888del (p.Ala1623_Arg1629del) rs1436911149
NM_201384.3(PLEC):c.4882G>A (p.Glu1628Lys) rs782452508
NM_201384.3(PLEC):c.4882G>C (p.Glu1628Gln) rs782452508
NM_201384.3(PLEC):c.4885C>T (p.Arg1629Trp)
NM_201384.3(PLEC):c.4895A>G (p.Glu1632Gly) rs1824483274
NM_201384.3(PLEC):c.4897C>T (p.Arg1633Cys) rs782816453
NM_201384.3(PLEC):c.4898G>A (p.Arg1633His) rs782039716
NM_201384.3(PLEC):c.4898G>T (p.Arg1633Leu)
NM_201384.3(PLEC):c.4903C>G (p.Gln1635Glu)
NM_201384.3(PLEC):c.4926_4931del (p.1643RL[1]) rs1554700187
NM_201384.3(PLEC):c.4934G>A (p.Arg1645Gln)
NM_201384.3(PLEC):c.4943C>T (p.Ala1648Val) rs886044785
NM_201384.3(PLEC):c.4949A>T (p.Glu1650Val) rs2131442848
NM_201384.3(PLEC):c.4951G>T (p.Val1651Leu)
NM_201384.3(PLEC):c.4952T>C (p.Val1651Ala) rs1824450584
NM_201384.3(PLEC):c.4967G>C (p.Ser1656Thr)
NM_201384.3(PLEC):c.4978G>T (p.Ala1660Ser) rs781997708
NM_201384.3(PLEC):c.4979C>T (p.Ala1660Val)
NM_201384.3(PLEC):c.4981G>A (p.Glu1661Lys)
NM_201384.3(PLEC):c.4984G>A (p.Ala1662Thr) rs1554699901
NM_201384.3(PLEC):c.4987_4989del (p.Glu1663del)
NM_201384.3(PLEC):c.4997AGG[2] (p.Glu1668del) rs782362153
NM_201384.3(PLEC):c.5011C>A (p.Arg1671Ser) rs782189427
NM_201384.3(PLEC):c.503C>T (p.Ser168Leu)
NM_201384.3(PLEC):c.5044C>T (p.Gln1682Ter) rs1586920109
NM_201384.3(PLEC):c.5048C>T (p.Ala1683Val)
NM_201384.3(PLEC):c.5060G>A (p.Arg1687Gln)
NM_201384.3(PLEC):c.5062G>C (p.Glu1688Gln)
NM_201384.3(PLEC):c.5068G>A (p.Ala1690Thr)
NM_201384.3(PLEC):c.5079G>C (p.Glu1693Asp)
NM_201384.3(PLEC):c.5090A>C (p.Gln1697Pro) rs2131428507
NM_201384.3(PLEC):c.5102C>G (p.Ala1701Gly) rs782656542
NM_201384.3(PLEC):c.5102C>T (p.Ala1701Val)
NM_201384.3(PLEC):c.5143T>G (p.Leu1715Val)
NM_201384.3(PLEC):c.5146A>G (p.Ile1716Val) rs2131424028
NM_201384.3(PLEC):c.5177A>C (p.Glu1726Ala) rs1824310380
NM_201384.3(PLEC):c.5221C>T (p.Arg1741Cys)
NM_201384.3(PLEC):c.5228C>T (p.Ala1743Val)
NM_201384.3(PLEC):c.5230G>A (p.Ala1744Thr) rs1554698711
NM_201384.3(PLEC):c.5248C>G (p.Arg1750Gly) rs782410213
NM_201384.3(PLEC):c.5249G>A (p.Arg1750Gln) rs782302326
NM_201384.3(PLEC):c.5255A>C (p.Glu1752Ala)
NM_201384.3(PLEC):c.5256_5257delinsTT (p.Glu1752Asp) rs1824271470
NM_201384.3(PLEC):c.5272G>A (p.Ala1758Thr)
NM_201384.3(PLEC):c.5281C>T (p.Arg1761Trp)
NM_201384.3(PLEC):c.5282G>A (p.Arg1761Gln)
NM_201384.3(PLEC):c.5284G>A (p.Ala1762Thr) rs886044802
NM_201384.3(PLEC):c.5284G>T (p.Ala1762Ser)
NM_201384.3(PLEC):c.5287G>C (p.Glu1763Gln)
NM_201384.3(PLEC):c.529G>A (p.Gly177Ser) rs1554722875
NM_201384.3(PLEC):c.5318G>A (p.Arg1773Lys) rs2857827
NM_201384.3(PLEC):c.5320G>A (p.Ala1774Thr) rs1586914028
NM_201384.3(PLEC):c.5323GAG[2] (p.Glu1777del) rs2131409937
NM_201384.3(PLEC):c.5326G>A (p.Glu1776Lys) rs1377590522
NM_201384.3(PLEC):c.5329_5330inv (p.Glu1777Ser)
NM_201384.3(PLEC):c.5348A>T (p.Glu1783Val)
NM_201384.3(PLEC):c.5353T>A (p.Ser1785Thr)
NM_201384.3(PLEC):c.5369AGGCCG[3] (p.1790EA[3]) rs1464842034
NM_201384.3(PLEC):c.536G>C (p.Arg179Pro) rs566549191
NM_201384.3(PLEC):c.5377G>A (p.Ala1793Thr)
NM_201384.3(PLEC):c.5399C>T (p.Ala1800Val)
NM_201384.3(PLEC):c.5402AGG[1] (p.Glu1802del)
NM_201384.3(PLEC):c.5422G>C (p.Ala1808Pro)
NM_201384.3(PLEC):c.5425C>G (p.Leu1809Val) rs782104350
NM_201384.3(PLEC):c.5431G>C (p.Glu1811Gln) rs2131402601
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln) rs782213742
NM_201384.3(PLEC):c.5444G>T (p.Arg1815Leu) rs782213742
NM_201384.3(PLEC):c.5444GGCAGC[1] (p.1815RQ[1])
NM_201384.3(PLEC):c.5456_5482dup (p.Leu1819_Gln1827dup) rs1167395407
NM_201384.3(PLEC):c.5461G>A (p.Glu1821Lys)
NM_201384.3(PLEC):c.5467G>A (p.Asp1823Asn) rs1824179453
NM_201384.3(PLEC):c.5492C>T (p.Ala1831Val)
NM_201384.3(PLEC):c.5497C>T (p.Arg1833Trp) rs781925230
NM_201384.3(PLEC):c.5507C>G (p.Ala1836Gly) rs782216341
NM_201384.3(PLEC):c.5524A>G (p.Ile1842Val)
NM_201384.3(PLEC):c.5530G>A (p.Glu1844Lys)
NM_201384.3(PLEC):c.5533G>T (p.Ala1845Ser)
NM_201384.3(PLEC):c.5537C>T (p.Thr1846Met)
NM_201384.3(PLEC):c.5558A>G (p.Glu1853Gly) rs2131392882
NM_201384.3(PLEC):c.5561T>C (p.Ile1854Thr) rs2131392579
NM_201384.3(PLEC):c.5563G>A (p.Ala1855Thr)
NM_201384.3(PLEC):c.5575A>G (p.Lys1859Glu)
NM_201384.3(PLEC):c.5615A>G (p.Asp1872Gly)
NM_201384.3(PLEC):c.5625C>A (p.Phe1875Leu) rs541366603
NM_201384.3(PLEC):c.5627A>G (p.Gln1876Arg)
NM_201384.3(PLEC):c.5629C>G (p.Arg1877Gly)
NM_201384.3(PLEC):c.5633G>T (p.Arg1878Leu) rs373617951
NM_201384.3(PLEC):c.5644G>A (p.Glu1882Lys) rs914053921
NM_201384.3(PLEC):c.5647C>G (p.Gln1883Glu)
NM_201384.3(PLEC):c.5654C>T (p.Ala1885Val)
NM_201384.3(PLEC):c.5680C>T (p.Arg1894Cys)
NM_201384.3(PLEC):c.5695C>T (p.Arg1899Cys)
NM_201384.3(PLEC):c.5698A>G (p.Lys1900Glu) rs2131381770
NM_201384.3(PLEC):c.5710A>C (p.Ser1904Arg)
NM_201384.3(PLEC):c.5711G>T (p.Ser1904Ile) rs782115809
NM_201384.3(PLEC):c.5715G>C (p.Glu1905Asp) rs782414131
NM_201384.3(PLEC):c.5722C>T (p.Arg1908Trp)
NM_201384.3(PLEC):c.5727G>T (p.Gln1909His) rs1586904636
NM_201384.3(PLEC):c.5747C>T (p.Thr1916Met)
NM_201384.3(PLEC):c.5756A>C (p.Gln1919Pro)
NM_201384.3(PLEC):c.5759G>A (p.Arg1920Gln)
NM_201384.3(PLEC):c.5762G>A (p.Arg1921Gln)
NM_201384.3(PLEC):c.5770G>A (p.Glu1924Lys) rs2131377309
NM_201384.3(PLEC):c.5798G>A (p.Ser1933Asn) rs1288160719
NM_201384.3(PLEC):c.5801T>A (p.Phe1934Tyr) rs2131375723
NM_201384.3(PLEC):c.5810C>T (p.Ala1937Val)
NM_201384.3(PLEC):c.5813C>T (p.Ala1938Val)
NM_201384.3(PLEC):c.5815G>T (p.Ala1939Ser)
NM_201384.3(PLEC):c.5828A>G (p.Glu1943Gly) rs527440807
NM_201384.3(PLEC):c.5828AGCTGG[2] (p.1943EL[2]) rs782811601
NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4]) rs782811601
NM_201384.3(PLEC):c.5831T>A (p.Leu1944Gln) rs1564032909
NM_201384.3(PLEC):c.5841_5842insTTGGAG (p.1943EL[4]) rs781862456
NM_201384.3(PLEC):c.584C>A (p.Ala195Asp)
NM_201384.3(PLEC):c.5855G>A (p.Arg1952His) rs782475966
NM_201384.3(PLEC):c.5864C>T (p.Ala1955Val)
NM_201384.3(PLEC):c.5876T>C (p.Leu1959Pro) rs2131371188
NM_201384.3(PLEC):c.5889G>T (p.Glu1963Asp)
NM_201384.3(PLEC):c.5891_5899dup (p.Gln1964_Glu1966dup) rs1823955903
NM_201384.3(PLEC):c.5894C>T (p.Ala1965Val) rs1554695397
NM_201384.3(PLEC):c.5907_5908inv (p.Ala1970Thr)
NM_201384.3(PLEC):c.5917C>G (p.Arg1973Gly)
NM_201384.3(PLEC):c.592C>T (p.His198Tyr)
NM_201384.3(PLEC):c.5932GAG[2] (p.Glu1980del) rs781811075
NM_201384.3(PLEC):c.5938G>C (p.Glu1980Gln)
NM_201384.3(PLEC):c.5943_5966dup (p.Arg1989_Val1990insArgArgArgGluAlaGluGluArg)
NM_201384.3(PLEC):c.5948G>C (p.Arg1983Pro)
NM_201384.3(PLEC):c.5959GAG[1] (p.Glu1988del) rs1823915897
NM_201384.3(PLEC):c.5965C>A (p.Arg1989Ser) rs201465091
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_201384.3(PLEC):c.5972A>G (p.Gln1991Arg) rs370277924
NM_201384.3(PLEC):c.5990AGG[2] (p.Glu1999del) rs548427460
NM_201384.3(PLEC):c.5992G>C (p.Glu1998Gln) rs2131362462
NM_201384.3(PLEC):c.5995G>A (p.Glu1999Lys)
NM_201384.3(PLEC):c.6001G>A (p.Ala2001Thr) rs535202853
NM_201384.3(PLEC):c.6001G>T (p.Ala2001Ser) rs535202853
NM_201384.3(PLEC):c.6004C>G (p.Arg2002Gly)
NM_201384.3(PLEC):c.6008A>G (p.Gln2003Arg)
NM_201384.3(PLEC):c.6013A>G (p.Lys2005Glu)
NM_201384.3(PLEC):c.602+4C>G rs1587163504
NM_201384.3(PLEC):c.602+6T>C
NM_201384.3(PLEC):c.6034G>A (p.Glu2012Lys) rs1399422584
NM_201384.3(PLEC):c.603G>A (p.Lys201=)
NM_201384.3(PLEC):c.6040C>G (p.Leu2014Val) rs782467182
NM_201384.3(PLEC):c.6046G>A (p.Ala2016Thr)
NM_201384.3(PLEC):c.6059A>G (p.Glu2020Gly) rs367662560
NM_201384.3(PLEC):c.6064_6065insCCC (p.Ala2021_Arg2022insPro) rs1554694552
NM_201384.3(PLEC):c.6067C>A (p.Arg2023Ser) rs782091586
NM_201384.3(PLEC):c.6073C>T (p.Arg2025Trp)
NM_201384.3(PLEC):c.6080G>A (p.Arg2027Gln) rs782194846
NM_201384.3(PLEC):c.6080G>T (p.Arg2027Leu)
NM_201384.3(PLEC):c.6088C>A (p.Gln2030Lys) rs387906801
NM_201384.3(PLEC):c.6092A>G (p.Glu2031Gly)
NM_201384.3(PLEC):c.6100C>T (p.Arg2034Trp)
NM_201384.3(PLEC):c.6101G>C (p.Arg2034Pro)
NM_201384.3(PLEC):c.6109C>A (p.Gln2037Lys)
NM_201384.3(PLEC):c.6115G>C (p.Ala2039Pro) rs1554694317
NM_201384.3(PLEC):c.6116C>T (p.Ala2039Val)
NM_201384.3(PLEC):c.6121G>A (p.Glu2041Lys) rs1554694300
NM_201384.3(PLEC):c.6127G>A (p.Ala2043Thr) rs370881215
NM_201384.3(PLEC):c.6127G>T (p.Ala2043Ser) rs370881215
NM_201384.3(PLEC):c.6131A>G (p.Gln2044Arg)
NM_201384.3(PLEC):c.6133A>G (p.Lys2045Glu)
NM_201384.3(PLEC):c.6134A>G (p.Lys2045Arg) rs782227177
NM_201384.3(PLEC):c.6137G>A (p.Arg2046Gln) rs368319141
NM_201384.3(PLEC):c.6137G>T (p.Arg2046Leu) rs368319141
NM_201384.3(PLEC):c.613A>G (p.Ile205Val)
NM_201384.3(PLEC):c.6148G>A (p.Glu2050Lys) rs1554694169
NM_201384.3(PLEC):c.6158C>T (p.Ala2053Val)
NM_201384.3(PLEC):c.6169_6170delinsAT (p.Ala2057Met) rs1564026689
NM_201384.3(PLEC):c.6173T>G (p.Val2058Gly)
NM_201384.3(PLEC):c.6176A>G (p.Gln2059Arg)
NM_201384.3(PLEC):c.6181A>C (p.Lys2061Gln) rs782134018
NM_201384.3(PLEC):c.6190_6201del (p.Glu2064_Gln2067del) rs782102115
NM_201384.3(PLEC):c.6202_6203delinsCA (p.Thr2068Gln)
NM_201384.3(PLEC):c.6234G>T (p.Gln2078His)
NM_201384.3(PLEC):c.6238C>T (p.Arg2080Cys)
NM_201384.3(PLEC):c.6241G>C (p.Gly2081Arg)
NM_201384.3(PLEC):c.6244G>C (p.Glu2082Gln)
NM_201384.3(PLEC):c.6263G>A (p.Arg2088Gln)
NM_201384.3(PLEC):c.6268G>T (p.Ala2090Ser) rs2131342777
NM_201384.3(PLEC):c.6270_6278del (p.2091EEA[1])
NM_201384.3(PLEC):c.6272AGG[1] (p.Glu2092del) rs1278960213
NM_201384.3(PLEC):c.6279_6287del (p.2091EEA[1]) rs1181070187
NM_201384.3(PLEC):c.6284A>T (p.Glu2095Val)
NM_201384.3(PLEC):c.6290G>A (p.Arg2097Gln)
NM_201384.3(PLEC):c.6292G>A (p.Val2098Met)
NM_201384.3(PLEC):c.6292G>C (p.Val2098Leu)
NM_201384.3(PLEC):c.6299C>A (p.Ala2100Glu) rs782711037
NM_201384.3(PLEC):c.6309G>T (p.Glu2103Asp)
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.6323G>A (p.Arg2108Gln)
NM_201384.3(PLEC):c.6339G>C (p.Glu2113Asp) rs2131337889
NM_201384.3(PLEC):c.6357G>T (p.Gln2119His)
NM_201384.3(PLEC):c.6369G>T (p.Glu2123Asp)
NM_201384.3(PLEC):c.6373G>A (p.Ala2125Thr)
NM_201384.3(PLEC):c.6377A>G (p.Gln2126Arg)
NM_201384.3(PLEC):c.6383_6388dup (p.Ala2129_Gln2130insArgAla)
NM_201384.3(PLEC):c.6385G>A (p.Ala2129Thr) rs782449012
NM_201384.3(PLEC):c.6387_6392dup (p.Ala2133_Ala2134insGlnAla)
NM_201384.3(PLEC):c.6388C>G (p.Gln2130Glu)
NM_201384.3(PLEC):c.6389A>G (p.Gln2130Arg)
NM_201384.3(PLEC):c.6392C>T (p.Ala2131Val)
NM_201384.3(PLEC):c.6411G>T (p.Lys2137Asn)
NM_201384.3(PLEC):c.6435G>T (p.Glu2145Asp)
NM_201384.3(PLEC):c.6448G>A (p.Ala2150Thr) rs781879978
NM_201384.3(PLEC):c.644A>G (p.Asn215Ser) rs1828715357
NM_201384.3(PLEC):c.6455C>G (p.Ala2152Gly) rs200758669
NM_201384.3(PLEC):c.6466G>T (p.Ala2156Ser) rs2131328395
NM_201384.3(PLEC):c.6482A>G (p.Gln2161Arg) rs1823655465
NM_201384.3(PLEC):c.6485C>T (p.Ala2162Val) rs374622479
NM_201384.3(PLEC):c.6490G>A (p.Asp2164Asn)
NM_201384.3(PLEC):c.6491A>G (p.Asp2164Gly)
NM_201384.3(PLEC):c.6492C>G (p.Asp2164Glu) rs575031901
NM_201384.3(PLEC):c.6494C>G (p.Ala2165Gly) rs377663841
NM_201384.3(PLEC):c.6494C>T (p.Ala2165Val)
NM_201384.3(PLEC):c.6508C>T (p.His2170Tyr)
NM_201384.3(PLEC):c.6509A>G (p.His2170Arg)
NM_201384.3(PLEC):c.6510T>A (p.His2170Gln) rs375106164
NM_201384.3(PLEC):c.6511A>G (p.Lys2171Glu) rs1554692271
NM_201384.3(PLEC):c.6514A>C (p.Lys2172Gln)
NM_201384.3(PLEC):c.6519C>G (p.Phe2173Leu) rs782289515
NM_201384.3(PLEC):c.6521C>T (p.Ala2174Val)
NM_201384.3(PLEC):c.6563T>G (p.Leu2188Arg)
NM_201384.3(PLEC):c.6572T>C (p.Leu2191Pro) rs1554692018
NM_201384.3(PLEC):c.6574C>T (p.Arg2192Trp) rs530046608
NM_201384.3(PLEC):c.6582G>T (p.Gln2194His)
NM_201384.3(PLEC):c.6609C>G (p.Asn2203Lys)
NM_201384.3(PLEC):c.6610C>G (p.Leu2204Val) rs374204128
NM_201384.3(PLEC):c.6618C>A (p.Asp2206Glu)
NM_201384.3(PLEC):c.6640_6648del (p.Ala2214_Ala2216del)
NM_201384.3(PLEC):c.6649A>C (p.Thr2217Pro)
NM_201384.3(PLEC):c.6653A>G (p.Glu2218Gly)
NM_201384.3(PLEC):c.6658G>A (p.Ala2220Thr)
NM_201384.3(PLEC):c.6662G>T (p.Arg2221Leu) rs782458946
NM_201384.3(PLEC):c.6687G>T (p.Glu2229Asp) rs782099387
NM_201384.3(PLEC):c.6688C>T (p.Leu2230Phe)
NM_201384.3(PLEC):c.6700C>A (p.Arg2234Ser) rs782319175
NM_201384.3(PLEC):c.6700C>T (p.Arg2234Cys)
NM_201384.3(PLEC):c.6703G>A (p.Val2235Met) rs782255133
NM_201384.3(PLEC):c.6703G>T (p.Val2235Leu)
NM_201384.3(PLEC):c.6709A>G (p.Met2237Val)
NM_201384.3(PLEC):c.6715_6716delinsTT (p.Glu2239Leu) rs2131310237
NM_201384.3(PLEC):c.6737G>C (p.Arg2246Pro) rs1444747601
NM_201384.3(PLEC):c.6739A>G (p.Ile2247Val) rs1554691577
NM_201384.3(PLEC):c.6753_6815del (p.Asn2251_Glu2271del)
NM_201384.3(PLEC):c.6754C>G (p.Arg2252Gly)
NM_201384.3(PLEC):c.6760C>T (p.Leu2254Phe) rs1586878428
NM_201384.3(PLEC):c.6763A>T (p.Ile2255Phe) rs1454445957
NM_201384.3(PLEC):c.6769C>T (p.Arg2257Cys)
NM_201384.3(PLEC):c.6779A>G (p.Asp2260Gly)
NM_201384.3(PLEC):c.6797T>C (p.Leu2266Pro) rs1586877407
NM_201384.3(PLEC):c.6800A>C (p.Gln2267Pro) rs2131304063
NM_201384.3(PLEC):c.6800AGG[2] (p.Glu2269del)
NM_201384.3(PLEC):c.6806A>C (p.Glu2269Ala)
NM_201384.3(PLEC):c.6808G>A (p.Ala2270Thr)
NM_201384.3(PLEC):c.6812AGA[1] (p.Lys2272del) rs782639127
NM_201384.3(PLEC):c.6821A>G (p.Lys2274Arg)
NM_201384.3(PLEC):c.6838G>A (p.Ala2280Thr) rs1554691347
NM_201384.3(PLEC):c.6853G>A (p.Val2285Met)
NM_201384.3(PLEC):c.6860C>T (p.Ala2287Val) rs2131299748
NM_201384.3(PLEC):c.688C>G (p.Leu230Val) rs2132084523
NM_201384.3(PLEC):c.689T>A (p.Leu230Gln)
NM_201384.3(PLEC):c.6904G>A (p.Ala2302Thr)
NM_201384.3(PLEC):c.6908A>G (p.Gln2303Arg) rs1823437554
NM_201384.3(PLEC):c.6952G>A (p.Ala2318Thr)
NM_201384.3(PLEC):c.6955G>A (p.Val2319Met)
NM_201384.3(PLEC):c.6967A>C (p.Thr2323Pro)
NM_201384.3(PLEC):c.6982G>A (p.Glu2328Lys) rs2131291898
NM_201384.3(PLEC):c.6985G>A (p.Ala2329Thr)
NM_201384.3(PLEC):c.6986C>T (p.Ala2329Val)
NM_201384.3(PLEC):c.6991C>A (p.Leu2331Met)
NM_201384.3(PLEC):c.7008G>T (p.Lys2336Asn)
NM_201384.3(PLEC):c.700C>T (p.Arg234Trp)
NM_201384.3(PLEC):c.7016C>T (p.Ala2339Val)
NM_201384.3(PLEC):c.7022_7027del (p.Glu2341_Gln2342del)
NM_201384.3(PLEC):c.7026G>T (p.Gln2342His) rs1823384419
NM_201384.3(PLEC):c.7036C>G (p.Leu2346Val) rs2131287907
NM_201384.3(PLEC):c.7045G>A (p.Asp2349Asn)
NM_201384.3(PLEC):c.7072G>A (p.Ala2358Thr)
NM_201384.3(PLEC):c.7075GAG[1] (p.Glu2360del) rs782592923
NM_201384.3(PLEC):c.7081A>G (p.Thr2361Ala)
NM_201384.3(PLEC):c.7086G>C (p.Gln2362His) rs1554690668
NM_201384.3(PLEC):c.7094A>G (p.Gln2365Arg) rs1823346635
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln) rs576252504
NM_201384.3(PLEC):c.7111G>A (p.Glu2371Lys)
NM_201384.3(PLEC):c.7111G>C (p.Glu2371Gln) rs782558197
NM_201384.3(PLEC):c.7114C>T (p.Arg2372Trp)
NM_201384.3(PLEC):c.7115G>A (p.Arg2372Gln)
NM_201384.3(PLEC):c.7134G>C (p.Met2378Ile) rs782127583
NM_201384.3(PLEC):c.7138G>A (p.Ala2380Thr)
NM_201384.3(PLEC):c.7150C>T (p.Arg2384Cys)
NM_201384.3(PLEC):c.7165G>A (p.Val2389Met)
NM_201384.3(PLEC):c.7166T>C (p.Val2389Ala) rs782669267
NM_201384.3(PLEC):c.7168G>A (p.Ala2390Thr)
NM_201384.3(PLEC):c.7172A>G (p.Glu2391Gly) rs2131276867
NM_201384.3(PLEC):c.7178G>A (p.Ser2393Asn)
NM_201384.3(PLEC):c.7179C>G (p.Ser2393Arg)
NM_201384.3(PLEC):c.7183G>A (p.Ala2395Thr)
NM_201384.3(PLEC):c.7193G>C (p.Arg2398Pro) rs368343687
NM_201384.3(PLEC):c.7193G>T (p.Arg2398Leu)
NM_201384.3(PLEC):c.7195G>C (p.Ala2399Pro)
NM_201384.3(PLEC):c.7207G>T (p.Ala2403Ser)
NM_201384.3(PLEC):c.7211A>G (p.Gln2404Arg)
NM_201384.3(PLEC):c.7219C>T (p.Arg2407Trp) rs782255835
NM_201384.3(PLEC):c.721G>A (p.Val241Met) rs1213427822
NM_201384.3(PLEC):c.7231GAG[1] (p.Glu2412del) rs782750670
NM_201384.3(PLEC):c.7248G>T (p.Lys2416Asn) rs373410130
NM_201384.3(PLEC):c.7256G>A (p.Arg2419His)
NM_201384.3(PLEC):c.7264C>G (p.Leu2422Val)
NM_201384.3(PLEC):c.726T>G (p.Asp242Glu) rs1554721921
NM_201384.3(PLEC):c.7273C>G (p.Gln2425Glu)
NM_201384.3(PLEC):c.7274A>C (p.Gln2425Pro)
NM_201384.3(PLEC):c.7276_7278del (p.Glu2426del) rs1823256302
NM_201384.3(PLEC):c.7278G>T (p.Glu2426Asp) rs1554690114
NM_201384.3(PLEC):c.7280A>G (p.Lys2427Arg) rs1823254906
NM_201384.3(PLEC):c.7286C>T (p.Thr2429Ile)
NM_201384.3(PLEC):c.7320G>C (p.Gln2440His) rs1554689985
NM_201384.3(PLEC):c.7336G>A (p.Glu2446Lys)
NM_201384.3(PLEC):c.7343T>A (p.Leu2448Gln) rs1554689907
NM_201384.3(PLEC):c.7360G>C (p.Glu2454Gln) rs1586864240
NM_201384.3(PLEC):c.7370G>A (p.Arg2457His) rs199504105
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7378_7380del (p.Glu2460del) rs1199247968
NM_201384.3(PLEC):c.7379A>C (p.Glu2460Ala) rs1326203510
NM_201384.3(PLEC):c.7382A>G (p.Lys2461Arg) rs1823209493
NM_201384.3(PLEC):c.7384C>T (p.Leu2462Phe)
NM_201384.3(PLEC):c.7403T>G (p.Leu2468Arg)
NM_201384.3(PLEC):c.7422G>C (p.Glu2474Asp) rs1554689770
NM_201384.3(PLEC):c.7426-3C>T
NM_201384.3(PLEC):c.7445A>C (p.Glu2482Ala)
NM_201384.3(PLEC):c.7450_7458del (p.Leu2484_Gln2486del) rs1564005037
NM_201384.3(PLEC):c.7457A>G (p.Gln2486Arg)
NM_201384.3(PLEC):c.7463C>T (p.Thr2488Met)
NM_201384.3(PLEC):c.7468G>A (p.Ala2490Thr) rs1554689498
NM_201384.3(PLEC):c.7468G>C (p.Ala2490Pro) rs1554689498
NM_201384.3(PLEC):c.7471C>G (p.Leu2491Val) rs781827548
NM_201384.3(PLEC):c.7476G>C (p.Gln2492His)
NM_201384.3(PLEC):c.7481G>A (p.Ser2494Asn)
NM_201384.3(PLEC):c.7496A>C (p.Lys2499Thr) rs1338861681
NM_201384.3(PLEC):c.7511A>G (p.Gln2504Arg)
NM_201384.3(PLEC):c.7513C>T (p.Arg2505Trp) rs782284017
NM_201384.3(PLEC):c.7517A>G (p.Glu2506Gly)
NM_201384.3(PLEC):c.7520G>C (p.Arg2507Pro)
NM_201384.3(PLEC):c.7525A>G (p.Ile2509Val)
NM_201384.3(PLEC):c.7540G>C (p.Ala2514Pro)
NM_201384.3(PLEC):c.7541C>G (p.Ala2514Gly)
NM_201384.3(PLEC):c.7570G>T (p.Val2524Leu)
NM_201384.3(PLEC):c.7578G>C (p.Lys2526Asn) rs782348688
NM_201384.3(PLEC):c.7585C>G (p.Gln2529Glu)
NM_201384.3(PLEC):c.7598AGC[2] (p.Gln2535del)
NM_201384.3(PLEC):c.7607_7612del (p.Arg2536_Gln2537del)
NM_201384.3(PLEC):c.7607_7615del (p.Arg2536_Gln2538del) rs1299130078
NM_201384.3(PLEC):c.7607_7618dup (p.Arg2536_Gln2539dup) rs1372588772
NM_201384.3(PLEC):c.7609CAG[3] (p.Gln2540del) rs782806023
NM_201384.3(PLEC):c.7619_7639del (p.Gln2540_Gln2546del)
NM_201384.3(PLEC):c.7621A>T (p.Met2541Leu) rs1554688795
NM_201384.3(PLEC):c.7626G>T (p.Glu2542Asp)
NM_201384.3(PLEC):c.7634G>A (p.Arg2545Gln) rs782020198
NM_201384.3(PLEC):c.7636C>A (p.Gln2546Lys)
NM_201384.3(PLEC):c.7642C>G (p.Leu2548Val) rs1823027357
NM_201384.3(PLEC):c.7661A>C (p.Glu2554Ala) rs1488549704
NM_201384.3(PLEC):c.7679A>G (p.His2560Arg)
NM_201384.3(PLEC):c.767C>T (p.Ser256Leu)
NM_201384.3(PLEC):c.7693G>A (p.Gly2565Ser) rs1554688445
NM_201384.3(PLEC):c.7699C>T (p.Arg2567Trp)
NM_201384.3(PLEC):c.7705A>G (p.Lys2569Glu)
NM_201384.3(PLEC):c.7709A>G (p.Gln2570Arg)
NM_201384.3(PLEC):c.7714G>A (p.Glu2572Lys) rs1554688368
NM_201384.3(PLEC):c.7716G>T (p.Glu2572Asp) rs2131223796
NM_201384.3(PLEC):c.7727_7738dup (p.Leu2576_Gln2579dup) rs1457330030
NM_201384.3(PLEC):c.7765GAG[1] (p.Glu2590del) rs782142905
NM_201384.3(PLEC):c.7786G>C (p.Glu2596Gln)
NM_201384.3(PLEC):c.7816C>T (p.Arg2606Trp)
NM_201384.3(PLEC):c.781G>A (p.Ala261Thr)
NM_201384.3(PLEC):c.7846A>G (p.Thr2616Ala)
NM_201384.3(PLEC):c.7849G>A (p.Ala2617Thr)
NM_201384.3(PLEC):c.7856A>G (p.Gln2619Arg)
NM_201384.3(PLEC):c.7858G>A (p.Val2620Met)
NM_201384.3(PLEC):c.7862C>G (p.Ala2621Gly)
NM_201384.3(PLEC):c.7862C>T (p.Ala2621Val) rs1822921749
NM_201384.3(PLEC):c.7880C>T (p.Pro2627Leu) rs184879368
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
NM_201384.3(PLEC):c.790C>T (p.Arg264Cys)
NM_201384.3(PLEC):c.7915G>C (p.Glu2639Gln) rs782614096
NM_201384.3(PLEC):c.7922A>G (p.Glu2641Gly)
NM_201384.3(PLEC):c.7925C>T (p.Pro2642Leu) rs782183501
NM_201384.3(PLEC):c.7927G>C (p.Glu2643Gln) rs782555020
NM_201384.3(PLEC):c.7976A>G (p.Gln2659Arg)
NM_201384.3(PLEC):c.7978G>C (p.Glu2660Gln) rs1554687363
NM_201384.3(PLEC):c.7997C>T (p.Ala2666Val)
NM_201384.3(PLEC):c.8011C>T (p.Arg2671Trp)
NM_201384.3(PLEC):c.8024G>A (p.Gly2675Asp)
NM_201384.3(PLEC):c.8038G>T (p.Asp2680Tyr) rs1822833977
NM_201384.3(PLEC):c.8039A>G (p.Asp2680Gly) rs2131195937
NM_201384.3(PLEC):c.8048C>T (p.Ala2683Val) rs1554687064
NM_201384.3(PLEC):c.8053C>T (p.Arg2685Trp)
NM_201384.3(PLEC):c.8056G>A (p.Glu2686Lys)
NM_201384.3(PLEC):c.8068C>T (p.His2690Tyr)
NM_201384.3(PLEC):c.808G>A (p.Asp270Asn)
NM_201384.3(PLEC):c.8095G>A (p.Ala2699Thr) rs782264628
NM_201384.3(PLEC):c.8117C>T (p.Thr2706Ile) rs1026634250
NM_201384.3(PLEC):c.8122G>A (p.Glu2708Lys) rs2131188018
NM_201384.3(PLEC):c.813G>T (p.Gly271=) rs782632148
NM_201384.3(PLEC):c.8144C>T (p.Ala2715Val)
NM_201384.3(PLEC):c.8146C>A (p.Leu2716Met)
NM_201384.3(PLEC):c.815T>C (p.Val272Ala) rs1554721734
NM_201384.3(PLEC):c.8166T>A (p.Ser2722Arg)
NM_201384.3(PLEC):c.8174C>T (p.Thr2725Met)
NM_201384.3(PLEC):c.8180T>G (p.Leu2727Arg)
NM_201384.3(PLEC):c.824A>G (p.Asn275Ser)
NM_201384.3(PLEC):c.8269G>A (p.Gly2757Ser) rs547419860
NM_201384.3(PLEC):c.8273T>G (p.Val2758Gly) rs2131176278
NM_201384.3(PLEC):c.8281C>T (p.Pro2761Ser)
NM_201384.3(PLEC):c.8302C>G (p.Leu2768Val)
NM_201384.3(PLEC):c.8314C>T (p.Arg2772Cys)
NM_201384.3(PLEC):c.8329T>C (p.Tyr2777His) rs1554685965
NM_201384.3(PLEC):c.8333_8334delinsCC (p.Lys2778Thr) rs1822684534
NM_201384.3(PLEC):c.8338C>T (p.Pro2780Ser) rs782546260
NM_201384.3(PLEC):c.8362C>G (p.Leu2788Val)
NM_201384.3(PLEC):c.8375T>C (p.Met2792Thr)
NM_201384.3(PLEC):c.8382G>C (p.Lys2794Asn)
NM_201384.3(PLEC):c.8390T>C (p.Ile2797Thr)
NM_201384.3(PLEC):c.8395C>G (p.Arg2799Gly)
NM_201384.3(PLEC):c.8404G>A (p.Gly2802Ser)
NM_201384.3(PLEC):c.8417T>C (p.Leu2806Pro) rs1554685611
NM_201384.3(PLEC):c.8428A>T (p.Ile2810Phe) rs908478191
NM_201384.3(PLEC):c.8448C>G (p.Ile2816Met)
NM_201384.3(PLEC):c.8455G>T (p.Val2819Leu)
NM_201384.3(PLEC):c.8464C>T (p.His2822Tyr)
NM_201384.3(PLEC):c.8470G>C (p.Val2824Leu)
NM_201384.3(PLEC):c.8476G>A (p.Val2826Met)
NM_201384.3(PLEC):c.8482G>A (p.Val2828Met)
NM_201384.3(PLEC):c.8493_8494delinsCT (p.Arg2832Cys) rs1822596497
NM_201384.3(PLEC):c.8503T>C (p.Phe2835Leu)
NM_201384.3(PLEC):c.8506G>C (p.Asp2836His) rs200814155
NM_201384.3(PLEC):c.8509GAG[1] (p.Glu2838del) rs886044795
NM_201384.3(PLEC):c.8530G>T (p.Ala2844Ser) rs1554684937
NM_201384.3(PLEC):c.8584C>T (p.Leu2862Phe) rs781795243
NM_201384.3(PLEC):c.8593_8594inv (p.Leu2865Arg)
NM_201384.3(PLEC):c.8647C>T (p.Pro2883Ser)
NM_201384.3(PLEC):c.8662G>C (p.Ala2888Pro) rs1822520832
NM_201384.3(PLEC):c.8666C>T (p.Ala2889Val)
NM_201384.3(PLEC):c.8669A>C (p.Lys2890Thr) rs1554684207
NM_201384.3(PLEC):c.8682_8684dup (p.Val2895_Tyr2896insVal)
NM_201384.3(PLEC):c.8700G>T (p.Glu2900Asp) rs2131138799
NM_201384.3(PLEC):c.8702C>T (p.Ala2901Val)
NM_201384.3(PLEC):c.8705G>A (p.Arg2902Gln)
NM_201384.3(PLEC):c.8713T>A (p.Phe2905Ile) rs2131137770
NM_201384.3(PLEC):c.8732C>T (p.Ser2911Phe) rs1822496641
NM_201384.3(PLEC):c.8760G>T (p.Lys2920Asn) rs782654615
NM_201384.3(PLEC):c.8764G>A (p.Val2922Met) rs782738947
NM_201384.3(PLEC):c.8764G>C (p.Val2922Leu)
NM_201384.3(PLEC):c.8812C>T (p.Arg2938Trp)
NM_201384.3(PLEC):c.8835C>G (p.Phe2945Leu) rs1327652702
NM_201384.3(PLEC):c.8846G>A (p.Arg2949Gln)
NM_201384.3(PLEC):c.886C>G (p.Arg296Gly)
NM_201384.3(PLEC):c.8870A>G (p.Lys2957Arg)
NM_201384.3(PLEC):c.8882C>T (p.Thr2961Met)
NM_201384.3(PLEC):c.8887G>A (p.Val2963Met)
NM_201384.3(PLEC):c.8893G>A (p.Glu2965Lys)
NM_201384.3(PLEC):c.8893GAGCAG[1] (p.2965EQ[1]) rs782298339
NM_201384.3(PLEC):c.8898G>C (p.Gln2966His)
NM_201384.3(PLEC):c.8902C>A (p.Gln2968Lys)
NM_201384.3(PLEC):c.8905A>G (p.Lys2969Glu) rs1822419267
NM_201384.3(PLEC):c.8907G>C (p.Lys2969Asn)
NM_201384.3(PLEC):c.8917T>G (p.Cys2973Gly)
NM_201384.3(PLEC):c.8950G>A (p.Ala2984Thr)
NM_201384.3(PLEC):c.8977G>A (p.Asp2993Asn)
NM_201384.3(PLEC):c.8983G>A (p.Glu2995Lys)
NM_201384.3(PLEC):c.8998C>G (p.Leu3000Val) rs1586827787
NM_201384.3(PLEC):c.9017C>G (p.Ser3006Cys)
NM_201384.3(PLEC):c.9040G>A (p.Asp3014Asn) rs2131106331
NM_201384.3(PLEC):c.9043A>G (p.Thr3015Ala)
NM_201384.3(PLEC):c.9050G>A (p.Arg3017Gln)
NM_201384.3(PLEC):c.9062G>A (p.Arg3021Gln)
NM_201384.3(PLEC):c.9065G>T (p.Gly3022Val) rs1554682874
NM_201384.3(PLEC):c.9071A>C (p.Asn3024Thr) rs535089650
NM_201384.3(PLEC):c.9071A>G (p.Asn3024Ser) rs535089650
NM_201384.3(PLEC):c.9071A>T (p.Asn3024Ile) rs535089650
NM_201384.3(PLEC):c.9101C>A (p.Ala3034Glu)
NM_201384.3(PLEC):c.9106C>G (p.Gln3036Glu)
NM_201384.3(PLEC):c.9107A>T (p.Gln3036Leu) rs1822324066
NM_201384.3(PLEC):c.9122A>G (p.Tyr3041Cys)
NM_201384.3(PLEC):c.9135G>T (p.Lys3045Asn) rs1563978244
NM_201384.3(PLEC):c.913C>T (p.Arg305Cys)
NM_201384.3(PLEC):c.9141C>G (p.Asp3047Glu)
NM_201384.3(PLEC):c.9163G>A (p.Val3055Met) rs1281499416
NM_201384.3(PLEC):c.9185C>T (p.Ala3062Val) rs1260145171
NM_201384.3(PLEC):c.9191C>A (p.Thr3064Asn)
NM_201384.3(PLEC):c.9229A>T (p.Thr3077Ser)
NM_201384.3(PLEC):c.9235G>A (p.Asp3079Asn)
NM_201384.3(PLEC):c.9248G>A (p.Arg3083His) rs201948649
NM_201384.3(PLEC):c.9250G>T (p.Ala3084Ser) rs1822259976
NM_201384.3(PLEC):c.9265C>T (p.Pro3089Ser)
NM_201384.3(PLEC):c.9278A>G (p.Glu3093Gly) rs1822247949
NM_201384.3(PLEC):c.9280A>G (p.Lys3094Glu) rs2131084399
NM_201384.3(PLEC):c.9299A>G (p.Lys3100Arg) rs1554682103
NM_201384.3(PLEC):c.9311G>A (p.Gly3104Glu)
NM_201384.3(PLEC):c.9316A>G (p.Arg3106Gly) rs368572993
NM_201384.3(PLEC):c.9323C>T (p.Pro3108Leu)
NM_201384.3(PLEC):c.9334C>A (p.Gln3112Lys)
NM_201384.3(PLEC):c.9337A>G (p.Ser3113Gly)
NM_201384.3(PLEC):c.933C>G (p.Phe311Leu)
NM_201384.3(PLEC):c.934G>C (p.Glu312Gln) rs577853547
NM_201384.3(PLEC):c.9351C>G (p.Phe3117Leu) rs200895343
NM_201384.3(PLEC):c.9351_9352delinsTG (p.Gln3118Glu)
NM_201384.3(PLEC):c.9366G>C (p.Lys3122Asn)
NM_201384.3(PLEC):c.9367G>T (p.Gly3123Cys) rs782603108
NM_201384.3(PLEC):c.9368G>A (p.Gly3123Asp) rs1554681842
NM_201384.3(PLEC):c.9370C>T (p.Leu3124Phe)
NM_201384.3(PLEC):c.9386A>G (p.Gln3129Arg) rs782543325
NM_201384.3(PLEC):c.9395G>A (p.Arg3132His)
NM_201384.3(PLEC):c.9404A>G (p.Asp3135Gly)
NM_201384.3(PLEC):c.9421G>A (p.Gly3141Ser)
NM_201384.3(PLEC):c.9422G>A (p.Gly3141Asp)
NM_201384.3(PLEC):c.9429C>G (p.Ile3143Met)
NM_201384.3(PLEC):c.9430G>A (p.Val3144Met)
NM_201384.3(PLEC):c.9436C>T (p.Pro3146Ser)
NM_201384.3(PLEC):c.9437C>A (p.Pro3146His)
NM_201384.3(PLEC):c.945+14G>A rs199776873
NM_201384.3(PLEC):c.9469G>A (p.Ala3157Thr)
NM_201384.3(PLEC):c.9478C>G (p.Arg3160Gly) rs1554681458
NM_201384.3(PLEC):c.947T>A (p.Ile316Asn) rs782003639
NM_201384.3(PLEC):c.9490G>C (p.Asp3164His) rs782682146
NM_201384.3(PLEC):c.9503G>A (p.Ser3168Asn)
NM_201384.3(PLEC):c.9531C>A (p.Asp3177Glu) rs782764977
NM_201384.3(PLEC):c.9532G>A (p.Ala3178Thr) rs781938939
NM_201384.3(PLEC):c.9538G>A (p.Ala3180Thr)
NM_201384.3(PLEC):c.9551C>G (p.Pro3184Arg) rs782589164
NM_201384.3(PLEC):c.9553A>G (p.Ser3185Gly)
NM_201384.3(PLEC):c.9557C>T (p.Thr3186Ile)
NM_201384.3(PLEC):c.9569C>T (p.Ala3190Val)
NM_201384.3(PLEC):c.9577G>A (p.Gly3193Ser) rs201402970
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys) rs201402970
NM_201384.3(PLEC):c.9599_9607dup (p.Arg3200_Asp3202dup) rs782633303
NM_201384.3(PLEC):c.9605A>T (p.Asp3202Val) rs2131055914
NM_201384.3(PLEC):c.961T>A (p.Phe321Ile)
NM_201384.3(PLEC):c.9620T>C (p.Leu3207Pro)
NM_201384.3(PLEC):c.9635T>G (p.Leu3212Arg)
NM_201384.3(PLEC):c.9641A>G (p.Glu3214Gly)
NM_201384.3(PLEC):c.9645G>C (p.Lys3215Asn)
NM_201384.3(PLEC):c.9667G>C (p.Glu3223Gln) rs886044801
NM_201384.3(PLEC):c.9670C>G (p.Leu3224Val)
NM_201384.3(PLEC):c.9670C>T (p.Leu3224Phe)
NM_201384.3(PLEC):c.9692G>C (p.Arg3231Pro) rs377610697
NM_201384.3(PLEC):c.9700T>G (p.Phe3234Val) rs1822042749
NM_201384.3(PLEC):c.9703G>A (p.Glu3235Lys)
NM_201384.3(PLEC):c.9708G>C (p.Lys3236Asn) rs782753536
NM_201384.3(PLEC):c.9710C>T (p.Thr3237Ile)
NM_201384.3(PLEC):c.9722T>G (p.Val3241Gly) rs1822033344
NM_201384.3(PLEC):c.9727G>A (p.Val3243Met) rs377156107
NM_201384.3(PLEC):c.9727G>C (p.Val3243Leu) rs377156107
NM_201384.3(PLEC):c.9743G>A (p.Gly3248Asp)
NM_201384.3(PLEC):c.9766C>G (p.Leu3256Val)
NM_201384.3(PLEC):c.9781T>C (p.Tyr3261His) rs2131041335
NM_201384.3(PLEC):c.9806A>G (p.Glu3269Gly) rs1554680213
NM_201384.3(PLEC):c.9807G>C (p.Glu3269Asp)
NM_201384.3(PLEC):c.9811T>A (p.Leu3271Met)
NM_201384.3(PLEC):c.9814C>G (p.Arg3272Gly) rs375101631
NM_201384.3(PLEC):c.9817C>G (p.Gln3273Glu) rs782687489
NM_201384.3(PLEC):c.9822C>G (p.Phe3274Leu)
NM_201384.3(PLEC):c.9823C>A (p.Arg3275Ser) rs782733657
NM_201384.3(PLEC):c.9827C>T (p.Thr3276Met) rs782700611
NM_201384.3(PLEC):c.9829G>A (p.Gly3277Ser) rs1258900653
NM_201384.3(PLEC):c.9830G>C (p.Gly3277Ala) rs1441006146
NM_201384.3(PLEC):c.9833A>G (p.Lys3278Arg)
NM_201384.3(PLEC):c.9835G>A (p.Val3279Ile)
NM_201384.3(PLEC):c.9835G>T (p.Val3279Phe) rs200407723
NM_201384.3(PLEC):c.9847A>G (p.Lys3283Glu)
NM_201384.3(PLEC):c.9853A>G (p.Ile3285Val) rs1333335060
NM_201384.3(PLEC):c.9865A>G (p.Ile3289Val) rs2131033863
NM_201384.3(PLEC):c.9871A>G (p.Ile3291Val) rs1821975161
NM_201384.3(PLEC):c.9877G>A (p.Glu3293Lys) rs868906220
NM_201384.3(PLEC):c.9880G>A (p.Glu3294Lys)
NM_201384.3(PLEC):c.991G>C (p.Ala331Pro)
NM_201384.3(PLEC):c.991G>T (p.Ala331Ser)
NM_201384.3(PLEC):c.9932C>T (p.Pro3311Leu) rs1554679793
NM_201384.3(PLEC):c.9944G>A (p.Ser3315Asn)
NM_201384.3(PLEC):c.9964G>T (p.Val3322Phe)
NM_201384.3(PLEC):c.9980A>G (p.Gln3327Arg) rs2131026332
NM_201384.3(PLEC):c.9982T>A (p.Phe3328Ile) rs781920048
NM_201384.3(PLEC):c.9986A>G (p.Glu3329Gly)
NM_201384.3(PLEC):c.9997G>A (p.Asp3333Asn)
NM_203486.3(DLL3):c.1123C>G (p.Leu375Val) rs777253263
NM_203486.3(DLL3):c.1140C>G (p.Arg380=) rs934368057
NM_203486.3(DLL3):c.1362T>C (p.Ala454=) rs768998068
NM_203486.3(DLL3):c.1378A>G (p.Met460Val) rs766274162
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu) rs777442783
NM_203486.3(DLL3):c.1674-9C>T rs2079653502
NM_203486.3(DLL3):c.1759-97G>T rs569619393
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala) rs1600751637
NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) rs71647811
NM_203486.3(DLL3):c.367A>G (p.Ile123Val) rs1568448479
NM_203486.3(DLL3):c.583A>G (p.Ser195Gly) rs2079619248
NM_203486.3(DLL3):c.615C>T (p.Arg205=) rs780088167
NM_203486.3(DLL3):c.654G>A (p.Leu218=) rs140489087
NM_203486.3(DLL3):c.870+3C>T rs377288340
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254
NM_206933.4(USH2A):c.-159G>C rs886045955
NM_206933.4(USH2A):c.-181C>T rs866904288
NM_206933.4(USH2A):c.-1C>G rs547139318
NM_206933.4(USH2A):c.-229C>T rs151238022
NM_206933.4(USH2A):c.-289C>A rs886045956
NM_206933.4(USH2A):c.-289C>T rs886045956
NM_206933.4(USH2A):c.-4A>G rs2039693971
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln) rs2039690682
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) rs773660267
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=) rs530322386
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.1041T>C (p.Asp347=) rs2102655884
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) rs771610821
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg) rs2102763446
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His) rs758985068
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser) rs2102762754
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg) rs1661660762
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=) rs1661658126
NM_206933.4(USH2A):c.10740+7G>A rs201206110
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn) rs369507534
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met) rs781539138
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu) rs1238814587
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) rs2102742330
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp) rs928040621
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile) rs1416382590
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val) rs2102742157
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn) rs112898958
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr) rs773373939
NM_206933.4(USH2A):c.11390-2del rs760100733
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del) rs1553257704
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro) rs1553257674
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val) rs1659895227
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) rs1659890930
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) rs866937010
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=) rs752752496
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) rs141528682
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del) rs1553252937
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) rs1553252931
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys) rs1658179050
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) rs1657997491
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys) rs757525434
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val) rs1657992951
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr) rs187897763
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala) rs1363933493
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=) rs1571949553
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys) rs770065010
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser) rs2037680211
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) rs1553252489
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg) rs1553252475
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys) rs1657961774
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys) rs1657960533
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala) rs1657955894
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) rs2102665721
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro) rs1558038097
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys) rs144200261
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) rs2039690182
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe) rs111033500
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe) rs146240320
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg) rs1403832675
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys) rs1553250638
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn) rs1657930957
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg) rs754560573
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) rs775560370
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser) rs2102664812
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met) rs1416382135
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His) rs1350039852
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu) rs2037663922
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser) rs574442439
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13811+3A>G rs760716728
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys) rs764431065
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu) rs1657805631
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu) rs150600947
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln) rs761367363
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp) rs2102645078
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg) rs1333608275
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg) rs370157230
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu) rs781195579
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr) rs746985615
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys) rs200570742
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys) rs781558053
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe)
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr) rs2102642261
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) rs779400517
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala) rs745580452
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) rs1469032409
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp) rs1656647412
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly) rs147514366
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=) rs568581229
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del) rs1553249310
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile) rs1029854359
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del) rs1553248836
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr) rs779531682
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe) rs755735339
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del) rs1553250409
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala) rs2037620114
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr) rs2102610653
NM_206933.4(USH2A):c.1841-377A>G
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro) rs369806765
NM_206933.4(USH2A):c.1891G>C (p.Asp631His) rs552400144
NM_206933.4(USH2A):c.2002G>A (p.Val668Met) rs1404273822
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser) rs137954284
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser) rs1304016981
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg) rs2102546492
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln) rs778957703
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu) rs1487392425
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu) rs1553320498
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del) rs757082108
NM_206933.4(USH2A):c.2514A>G (p.Gln838=) rs969374126
NM_206933.4(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu) rs2036055708
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala) rs754932972
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg) rs762059922
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) rs2035366945
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) rs150729680
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val) rs150729680
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr) rs762711963
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) rs1396798963
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del) rs1461275915
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr) rs1553314999
NM_206933.4(USH2A):c.3316+6T>C rs373631038
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile) rs914071757
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3660A>G (p.Val1220=) rs2034940102
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=) rs376090043
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr) rs373698501
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu) rs778505422
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr) rs2102460604
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del) rs773595155
NM_206933.4(USH2A):c.4251+3A>G rs1181655123
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4252-36CTTT[7] rs372388546
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile) rs772742405
NM_206933.4(USH2A):c.432G>A (p.Leu144=) rs760787084
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser) rs2034687815
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile) rs2034357761
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer) rs1553310736
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.4627+1091T>C rs886045945
NM_206933.4(USH2A):c.4627+1205_4627+1208del rs751661540
NM_206933.4(USH2A):c.4627+28A>G rs773190850
NM_206933.4(USH2A):c.4627+330A>G rs886045949
NM_206933.4(USH2A):c.4627+343A>G rs2034344204
NM_206933.4(USH2A):c.4627+36C>T rs577393945
NM_206933.4(USH2A):c.4627+442C>G rs1037400670
NM_206933.4(USH2A):c.4627+512G>A rs2034341678
NM_206933.4(USH2A):c.4627+589C>A rs886045948
NM_206933.4(USH2A):c.4627+813C>T rs192047831
NM_206933.4(USH2A):c.4627+945AT[3] rs886045946
NM_206933.4(USH2A):c.4627+974T>C rs2034329165
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val) rs111033333
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val) rs2032219588
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His) rs2032076681
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp) rs2102561202
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala) rs2032067781
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val) rs1381827718
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu) rs2102559662
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val) rs768237382
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly) rs1553299065
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu) rs748792761
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5561_5572+7dup rs1553299014
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.566G>A (p.Arg189His) rs747767544
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu) rs747767544
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser) rs1162070622
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe) rs761586978
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) rs747419030
NM_206933.4(USH2A):c.5776+9G>T rs1405078779
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val) rs2031607385
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) rs2031607129
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.598G>C (p.Val200Leu) rs781022362
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) rs111033514
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del) rs776262139
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
NM_206933.4(USH2A):c.651+15A>G rs765252898
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg) rs1668203744
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr) rs562492049
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=) rs766287712
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile) rs1667318951
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) rs1017425051
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=) rs769558676
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro) rs2102499658
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) rs780840434
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) rs1665478442
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala) rs1553274535
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) rs1665475399
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys) rs754310768
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly) rs1175968972
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met) rs1338661803
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) rs1414367127
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly) rs267598377
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe) rs1205473124
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=) rs1456443971
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser) rs768532694
NM_206933.4(USH2A):c.8224-6T>G rs1664846600
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del) rs1553272199
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe) rs1413784848
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly)
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu) rs2102658782
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu) rs756866344
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.4(USH2A):c.849-4A>G rs765189933
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val) rs1664810364
NM_206933.4(USH2A):c.8682-17A>G rs1553271011
NM_206933.4(USH2A):c.8682-5T>C rs1664495207
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile) rs1664494411
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser) rs1553270997
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn) rs1664492083
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu) rs780358747
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr) rs1048801397
NM_206933.4(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu) rs2037715022
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del) rs764038940
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala) rs754391322
NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile) rs1553250805
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg) rs373286445
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp) rs756163056
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) rs1553265812
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met) rs368240096
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del) rs756735388
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr) rs1662225145
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) rs137876918
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del) rs773436260
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr) rs2102770144
NM_207361.6(FREM2):c.*1148A>G rs368600284
NM_207361.6(FREM2):c.*1675G>A rs187390888
NM_207361.6(FREM2):c.*1695T>C rs1272681317
NM_207361.6(FREM2):c.*1706C>A rs886050198
NM_207361.6(FREM2):c.*174C>G rs1878525492
NM_207361.6(FREM2):c.*1797C>T rs567320070
NM_207361.6(FREM2):c.*1890T>C rs886050200
NM_207361.6(FREM2):c.*1897CCTTT[3] rs886050201
NM_207361.6(FREM2):c.*2113T>C rs886050202
NM_207361.6(FREM2):c.*224G>A rs575095989
NM_207361.6(FREM2):c.*2348C>G rs1408274493
NM_207361.6(FREM2):c.*2395T>C rs771370901
NM_207361.6(FREM2):c.*2722T>C rs886050205
NM_207361.6(FREM2):c.*2747A>C rs967868768
NM_207361.6(FREM2):c.*294G>T rs1431429581
NM_207361.6(FREM2):c.*3094T>C rs886050206
NM_207361.6(FREM2):c.*314G>T rs551804129
NM_207361.6(FREM2):c.*3150G>C rs1878642054
NM_207361.6(FREM2):c.*3384G>A rs1566178910
NM_207361.6(FREM2):c.*3405A>G rs886050207
NM_207361.6(FREM2):c.*3487A>C rs1210937812
NM_207361.6(FREM2):c.*3718A>G rs886050208
NM_207361.6(FREM2):c.*4504G>A rs151152504
NM_207361.6(FREM2):c.*4617A>G rs544047008
NM_207361.6(FREM2):c.*4686G>T rs886050211
NM_207361.6(FREM2):c.*5155G>A rs777929539
NM_207361.6(FREM2):c.*5171T>A rs1878710835
NM_207361.6(FREM2):c.*5530TTG[1] rs886050212
NM_207361.6(FREM2):c.*5552CA[6] rs886050213
NM_207361.6(FREM2):c.*5590TA[6] rs34936389
NM_207361.6(FREM2):c.*5600GA[7] rs5802960
NM_207361.6(FREM2):c.*5614G>T rs1878730751
NM_207361.6(FREM2):c.*5640C>T rs535523494
NM_207361.6(FREM2):c.*5864A>C rs886050219
NM_207361.6(FREM2):c.*5870del rs886050220
NM_207361.6(FREM2):c.*6098A>G rs1878750161
NM_207361.6(FREM2):c.*6148_*6151del rs886050221
NM_207361.6(FREM2):c.*617T>C rs1878544148
NM_207361.6(FREM2):c.*6297C>A rs886050222
NM_207361.6(FREM2):c.-193T>C rs886050184
NM_207361.6(FREM2):c.-219G>A rs886050183
NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala) rs372777373
NM_207361.6(FREM2):c.135G>T (p.Pro45=) rs886050186
NM_207361.6(FREM2):c.175G>C (p.Gly59Arg) rs886050187
NM_207361.6(FREM2):c.176G>C (p.Gly59Ala) rs115327344
NM_207361.6(FREM2):c.1A>G (p.Met1Val) rs886050185
NM_207361.6(FREM2):c.2062C>G (p.Arg688Gly) rs150928081
NM_207361.6(FREM2):c.2062C>T (p.Arg688Trp) rs150928081
NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu) rs7327915
NM_207361.6(FREM2):c.2330C>T (p.Ala777Val) rs751699658
NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu) rs377001164
NM_207361.6(FREM2):c.2449A>G (p.Thr817Ala)
NM_207361.6(FREM2):c.2580T>C (p.Asp860=) rs1869737400
NM_207361.6(FREM2):c.2749G>A (p.Glu917Lys) rs536688833
NM_207361.6(FREM2):c.297G>A (p.Val99=) rs770972612
NM_207361.6(FREM2):c.3015T>C (p.Thr1005=) rs373638476
NM_207361.6(FREM2):c.3033G>C (p.Glu1011Asp) rs751307181
NM_207361.6(FREM2):c.3389G>A (p.Gly1130Glu) rs1453406056
NM_207361.6(FREM2):c.3738G>A (p.Thr1246=) rs530142447
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His) rs371827710
NM_207361.6(FREM2):c.3983T>C (p.Met1328Thr) rs780268243
NM_207361.6(FREM2):c.4050C>T (p.Gly1350=) rs753882674
NM_207361.6(FREM2):c.410G>A (p.Arg137His) rs1869547038
NM_207361.6(FREM2):c.4309G>A (p.Val1437Ile) rs1341655192
NM_207361.6(FREM2):c.4588G>C (p.Asp1530His) rs886043214
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
NM_207361.6(FREM2):c.4796A>C (p.Glu1599Ala) rs765228681
NM_207361.6(FREM2):c.4910A>G (p.Glu1637Gly) rs531905447
NM_207361.6(FREM2):c.4968C>T (p.Pro1656=) rs886050190
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
NM_207361.6(FREM2):c.5263+10C>T rs781240147
NM_207361.6(FREM2):c.5282A>G (p.Tyr1761Cys) rs758678009
NM_207361.6(FREM2):c.5434G>A (p.Ala1812Thr) rs749830746
NM_207361.6(FREM2):c.5477T>C (p.Val1826Ala)
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882
NM_207361.6(FREM2):c.5545C>G (p.Gln1849Glu) rs886050191
NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile) rs548177107
NM_207361.6(FREM2):c.5768-4C>G rs1874247085
NM_207361.6(FREM2):c.5797G>A (p.Val1933Met) rs200700443
NM_207361.6(FREM2):c.5882G>C (p.Cys1961Ser) rs1426941309
NM_207361.6(FREM2):c.6019+7A>C rs768376629
NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly) rs9548505
NM_207361.6(FREM2):c.6380-15C>G rs1877307671
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg) rs886042926
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) rs143576067
NM_207361.6(FREM2):c.699C>T (p.Leu233=) rs781523250
NM_207361.6(FREM2):c.7301G>T (p.Arg2434Leu) rs775757680
NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu) rs200997496
NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser) rs115492820
NM_207361.6(FREM2):c.787G>A (p.Gly263Ser) rs752025828
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp) rs1869591293
NM_207361.6(FREM2):c.8901T>C (p.Asn2967=) rs1878445288
NM_213599.3(ANO5):c.1013G>A (p.Ser338Asn)
NM_213599.3(ANO5):c.1014-3C>T
NM_213599.3(ANO5):c.1014-6T>A rs760705359
NM_213599.3(ANO5):c.1016C>T (p.Thr339Ile)
NM_213599.3(ANO5):c.1022T>C (p.Ile341Thr)
NM_213599.3(ANO5):c.1036A>G (p.Ile346Val) rs146233625
NM_213599.3(ANO5):c.103A>G (p.Arg35Gly) rs1852267355
NM_213599.3(ANO5):c.1042G>T (p.Gly348Cys) rs139344099
NM_213599.3(ANO5):c.1050G>C (p.Met350Ile)
NM_213599.3(ANO5):c.1050G>T (p.Met350Ile)
NM_213599.3(ANO5):c.1052T>C (p.Ile351Thr)
NM_213599.3(ANO5):c.1055T>C (p.Met352Thr) rs991625488
NM_213599.3(ANO5):c.1056G>A (p.Met352Ile)
NM_213599.3(ANO5):c.1061C>T (p.Pro354Leu)
NM_213599.3(ANO5):c.1063C>T (p.Leu355Phe) rs886042583
NM_213599.3(ANO5):c.1075G>T (p.Val359Leu)
NM_213599.3(ANO5):c.108G>C (p.Glu36Asp) rs1417289245
NM_213599.3(ANO5):c.108G>T (p.Glu36Asp) rs1417289245
NM_213599.3(ANO5):c.1103C>G (p.Thr368Arg)
NM_213599.3(ANO5):c.1105T>G (p.Cys369Gly)
NM_213599.3(ANO5):c.1106G>A (p.Cys369Tyr) rs886044154
NM_213599.3(ANO5):c.1117A>C (p.Lys373Gln) rs2133704406
NM_213599.3(ANO5):c.1120-9T>G rs1334854466
NM_213599.3(ANO5):c.1120T>C (p.Phe374Leu)
NM_213599.3(ANO5):c.113G>A (p.Ser38Asn) rs2133551587
NM_213599.3(ANO5):c.1168A>T (p.Met390Leu) rs1853797522
NM_213599.3(ANO5):c.1180+3G>A
NM_213599.3(ANO5):c.1180+3G>T rs2133705171
NM_213599.3(ANO5):c.1180G>A (p.Val394Ile)
NM_213599.3(ANO5):c.11C>A (p.Pro4Gln) rs376116831
NM_213599.3(ANO5):c.11C>T (p.Pro4Leu)
NM_213599.3(ANO5):c.1201T>G (p.Trp401Gly)
NM_213599.3(ANO5):c.123C>G (p.Ile41Met)
NM_213599.3(ANO5):c.1243G>A (p.Val415Met) rs886042432
NM_213599.3(ANO5):c.1256A>C (p.Glu419Ala) rs1853970837
NM_213599.3(ANO5):c.1265A>C (p.Gln422Pro) rs1554930319
NM_213599.3(ANO5):c.1311G>C (p.Arg437Ser)
NM_213599.3(ANO5):c.1332G>A (p.Lys444=) rs550454492
NM_213599.3(ANO5):c.1333-5T>A
NM_213599.3(ANO5):c.1348A>G (p.Met450Val) rs1362712764
NM_213599.3(ANO5):c.1363C>T (p.Arg455Cys) rs200633920
NM_213599.3(ANO5):c.1369C>G (p.Pro457Ala)
NM_213599.3(ANO5):c.1372T>C (p.Trp458Arg)
NM_213599.3(ANO5):c.1376A>G (p.Tyr459Cys)
NM_213599.3(ANO5):c.137T>A (p.Met46Lys)
NM_213599.3(ANO5):c.137T>C (p.Met46Thr)
NM_213599.3(ANO5):c.1388G>A (p.Gly463Glu) rs1854050845
NM_213599.3(ANO5):c.139C>T (p.Pro47Ser) rs147323556
NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)
NM_213599.3(ANO5):c.1405T>C (p.Trp469Arg)
NM_213599.3(ANO5):c.1409T>A (p.Met470Lys) rs1403946332
NM_213599.3(ANO5):c.140C>T (p.Pro47Leu)
NM_213599.3(ANO5):c.1410G>A (p.Met470Ile) rs2133737951
NM_213599.3(ANO5):c.1417G>C (p.Val473Leu)
NM_213599.3(ANO5):c.1438_1439insGTG (p.Ala479_Val480insGly) rs886042702
NM_213599.3(ANO5):c.1444G>A (p.Val482Met)
NM_213599.3(ANO5):c.1463T>C (p.Phe488Ser) rs1590300142
NM_213599.3(ANO5):c.1468A>G (p.Thr490Ala) rs375611559
NM_213599.3(ANO5):c.1468A>T (p.Thr490Ser) rs375611559
NM_213599.3(ANO5):c.146A>G (p.Lys49Arg) rs2133578091
NM_213599.3(ANO5):c.1486G>A (p.Glu496Lys) rs1854122899
NM_213599.3(ANO5):c.1489A>G (p.Ser497Gly)
NM_213599.3(ANO5):c.1528C>G (p.Pro510Ala)
NM_213599.3(ANO5):c.1534A>G (p.Ile512Val) rs1354557357
NM_213599.3(ANO5):c.1567T>G (p.Phe523Val) rs1854128264
NM_213599.3(ANO5):c.1576A>C (p.Ile526Leu)
NM_213599.3(ANO5):c.1595T>C (p.Phe532Ser)
NM_213599.3(ANO5):c.1606A>C (p.Ile536Leu)
NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)
NM_213599.3(ANO5):c.1612_1613delinsTT (p.Ala538Phe)
NM_213599.3(ANO5):c.1628T>A (p.Met543Lys) rs2133739053
NM_213599.3(ANO5):c.1629G>T (p.Met543Ile) rs1854131377
NM_213599.3(ANO5):c.1636C>A (p.Pro546Thr) rs2133747368
NM_213599.3(ANO5):c.1648C>A (p.Gln550Lys) rs1854208561
NM_213599.3(ANO5):c.1649A>G (p.Gln550Arg)
NM_213599.3(ANO5):c.1657G>A (p.Glu553Lys)
NM_213599.3(ANO5):c.1665T>A (p.Ser555Arg) rs1554931739
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.3(ANO5):c.169C>G (p.Arg57Gly) rs1323349209
NM_213599.3(ANO5):c.16C>T (p.Leu6Phe)
NM_213599.3(ANO5):c.1711T>C (p.Ser571Pro)
NM_213599.3(ANO5):c.1712C>T (p.Ser571Phe)
NM_213599.3(ANO5):c.1718T>C (p.Phe573Ser) rs2133747819
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys) rs2133747827
NM_213599.3(ANO5):c.1726G>A (p.Ala576Thr)
NM_213599.3(ANO5):c.1734T>C (p.Phe578=)
NM_213599.3(ANO5):c.1736A>T (p.Lys579Ile) rs1554931810
NM_213599.3(ANO5):c.173G>T (p.Arg58Leu) rs749698519
NM_213599.3(ANO5):c.1754A>G (p.Tyr585Cys) rs2133748070
NM_213599.3(ANO5):c.1790G>A (p.Arg597Lys) rs1854215396
NM_213599.3(ANO5):c.1793G>T (p.Ser598Ile)
NM_213599.3(ANO5):c.180+6A>G
NM_213599.3(ANO5):c.181-3C>T rs1413673264
NM_213599.3(ANO5):c.1817G>A (p.Cys606Tyr) rs2133750545
NM_213599.3(ANO5):c.1835C>T (p.Thr612Ile)
NM_213599.3(ANO5):c.1837C>A (p.Gln613Lys) rs1854241987
NM_213599.3(ANO5):c.1854G>A (p.Met618Ile)
NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn) rs1554931947
NM_213599.3(ANO5):c.1889C>G (p.Ala630Gly)
NM_213599.3(ANO5):c.1899-4A>G
NM_213599.3(ANO5):c.1908G>C (p.Leu636Phe)
NM_213599.3(ANO5):c.1912TGG[1] (p.Trp639del) rs886043515
NM_213599.3(ANO5):c.1919G>C (p.Arg640Thr)
NM_213599.3(ANO5):c.1920A>T (p.Arg640Ser) rs2133778259
NM_213599.3(ANO5):c.1930G>C (p.Ala644Pro) rs1302354806
NM_213599.3(ANO5):c.1930G>T (p.Ala644Ser) rs1302354806
NM_213599.3(ANO5):c.1936A>G (p.Thr646Ala) rs1398971952
NM_213599.3(ANO5):c.1952T>C (p.Leu651Pro)
NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)
NM_213599.3(ANO5):c.1961G>A (p.Arg654Gln)
NM_213599.3(ANO5):c.1970A>T (p.Gln657Leu) rs1854564032
NM_213599.3(ANO5):c.1972G>A (p.Asp658Asn) rs1243399386
NM_213599.3(ANO5):c.1975C>G (p.His659Asp) rs1177606947
NM_213599.3(ANO5):c.197A>G (p.Gln66Arg) rs1852632637
NM_213599.3(ANO5):c.1985A>G (p.Glu662Gly) rs2133778741
NM_213599.3(ANO5):c.1992T>G (p.Phe664Leu)
NM_213599.3(ANO5):c.2024_2029del (p.Glu675_Thr676del) rs2133778948
NM_213599.3(ANO5):c.2039T>A (p.Phe680Tyr) rs777640863
NM_213599.3(ANO5):c.2051C>T (p.Thr684Ile) rs1554934236
NM_213599.3(ANO5):c.2056T>G (p.Phe686Val) rs1554934237
NM_213599.3(ANO5):c.2062G>A (p.Ala688Thr) rs1411918733
NM_213599.3(ANO5):c.2063C>T (p.Ala688Val)
NM_213599.3(ANO5):c.2075T>C (p.Leu692Ser)
NM_213599.3(ANO5):c.2080C>T (p.Pro694Ser) rs886042582
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
NM_213599.3(ANO5):c.211A>G (p.Ile71Val)
NM_213599.3(ANO5):c.2138C>T (p.Thr713Ile)
NM_213599.3(ANO5):c.2144A>G (p.Gln715Arg) rs886043450
NM_213599.3(ANO5):c.2156C>G (p.Thr719Ser)
NM_213599.3(ANO5):c.2170G>C (p.Ala724Pro)
NM_213599.3(ANO5):c.2173C>A (p.His725Asn)
NM_213599.3(ANO5):c.2179A>G (p.Ile727Val) rs1053189991
NM_213599.3(ANO5):c.2181A>G (p.Ile727Met)
NM_213599.3(ANO5):c.2193A>C (p.Gln731His) rs745356431
NM_213599.3(ANO5):c.2201T>C (p.Leu734Pro) rs2133788943
NM_213599.3(ANO5):c.2203T>G (p.Tyr735Asp) rs1564951438
NM_213599.3(ANO5):c.2207G>A (p.Gly736Glu)
NM_213599.3(ANO5):c.2209A>T (p.Met737Leu) rs1854679617
NM_213599.3(ANO5):c.2216T>G (p.Val739Gly) rs2133789005
NM_213599.3(ANO5):c.2218C>G (p.Leu740Val) rs2133789024
NM_213599.3(ANO5):c.2222C>A (p.Ser741Tyr)
NM_213599.3(ANO5):c.2222C>T (p.Ser741Phe)
NM_213599.3(ANO5):c.2231C>G (p.Thr744Ser)
NM_213599.3(ANO5):c.2235+6T>C rs1246421086
NM_213599.3(ANO5):c.2236-8T>G
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2237C>G (p.Ala746Gly)
NM_213599.3(ANO5):c.223G>C (p.Asp75His) rs886044184
NM_213599.3(ANO5):c.2243T>G (p.Ile748Ser)
NM_213599.3(ANO5):c.2255C>T (p.Thr752Met)
NM_213599.3(ANO5):c.2263A>G (p.Ile755Val)
NM_213599.3(ANO5):c.226G>A (p.Gly76Arg)
NM_213599.3(ANO5):c.2279T>A (p.Val760Asp)
NM_213599.3(ANO5):c.2285A>G (p.Tyr762Cys)
NM_213599.3(ANO5):c.2294A>C (p.Tyr765Ser)
NM_213599.3(ANO5):c.2296T>A (p.Ser766Thr) rs1854763150
NM_213599.3(ANO5):c.22G>A (p.Glu8Lys)
NM_213599.3(ANO5):c.22G>C (p.Glu8Gln) rs1191668273
NM_213599.3(ANO5):c.2309C>T (p.Thr770Ile)
NM_213599.3(ANO5):c.230T>G (p.Ile77Ser)
NM_213599.3(ANO5):c.2347G>C (p.Val783Leu)
NM_213599.3(ANO5):c.2357T>A (p.Ile786Lys)
NM_213599.3(ANO5):c.2362G>A (p.Asp788Asn)
NM_213599.3(ANO5):c.2362G>C (p.Asp788His)
NM_213599.3(ANO5):c.2369C>T (p.Pro790Leu)
NM_213599.3(ANO5):c.2374C>T (p.His792Tyr) rs1854766846
NM_213599.3(ANO5):c.2377A>G (p.Thr793Ala)
NM_213599.3(ANO5):c.2377A>T (p.Thr793Ser) rs1854767183
NM_213599.3(ANO5):c.2389G>A (p.Glu797Lys)
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) rs1233836740
NM_213599.3(ANO5):c.2416T>G (p.Tyr806Asp)
NM_213599.3(ANO5):c.2435C>T (p.Pro812Leu) rs1854836805
NM_213599.3(ANO5):c.2445C>G (p.Asp815Glu)
NM_213599.3(ANO5):c.2455T>C (p.Tyr819His) rs1854838230
NM_213599.3(ANO5):c.2456A>G (p.Tyr819Cys) rs1554935116
NM_213599.3(ANO5):c.2461C>T (p.His821Tyr)
NM_213599.3(ANO5):c.2482G>T (p.Val828Phe) rs796172838
NM_213599.3(ANO5):c.2488G>A (p.Ala830Thr)
NM_213599.3(ANO5):c.2501_2502delinsTG (p.Thr834Met) rs1854840862
NM_213599.3(ANO5):c.2503T>A (p.Phe835Ile) rs374725506
NM_213599.3(ANO5):c.2509A>G (p.Ile837Val)
NM_213599.3(ANO5):c.2520+5G>A rs1564954182
NM_213599.3(ANO5):c.2524G>A (p.Val842Ile)
NM_213599.3(ANO5):c.2540A>T (p.Lys847Ile) rs375940033
NM_213599.3(ANO5):c.2542T>C (p.Phe848Leu)
NM_213599.3(ANO5):c.2554T>C (p.Trp852Arg) rs1405710743
NM_213599.3(ANO5):c.2561T>A (p.Ile854Lys) rs1311724644
NM_213599.3(ANO5):c.2563C>T (p.Pro855Ser)
NM_213599.3(ANO5):c.2579A>G (p.Asp860Gly)
NM_213599.3(ANO5):c.2581G>A (p.Val861Ile)
NM_213599.3(ANO5):c.2587G>A (p.Glu863Lys)
NM_213599.3(ANO5):c.2587G>C (p.Glu863Gln) rs1442498026
NM_213599.3(ANO5):c.2591G>T (p.Arg864Ile) rs1854998392
NM_213599.3(ANO5):c.2593A>C (p.Ile865Leu) rs772869621
NM_213599.3(ANO5):c.2594_2604del (p.Ile865fs) rs1371210536
NM_213599.3(ANO5):c.259G>C (p.Val87Leu) rs34994927
NM_213599.3(ANO5):c.259G>T (p.Val87Phe)
NM_213599.3(ANO5):c.2600G>T (p.Arg867Ile) rs1223713660
NM_213599.3(ANO5):c.2602_2603del (p.Glu868fs) rs1554935928
NM_213599.3(ANO5):c.2603A>G (p.Glu868Gly) rs2133810964
NM_213599.3(ANO5):c.2609T>G (p.Leu870Ter) rs1855000095
NM_213599.3(ANO5):c.2613G>A (p.Met871Ile)
NM_213599.3(ANO5):c.2624T>C (p.Ile875Thr) rs2133811100
NM_213599.3(ANO5):c.2639A>G (p.Glu880Gly) rs1554935957
NM_213599.3(ANO5):c.2642T>C (p.Leu881Pro) rs1394763627
NM_213599.3(ANO5):c.2642T>G (p.Leu881Arg) rs1394763627
NM_213599.3(ANO5):c.2646C>A (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.2672dup (p.Asn891fs) rs2133811319
NM_213599.3(ANO5):c.2677A>G (p.Asn893Asp)
NM_213599.3(ANO5):c.2679T>A (p.Asn893Lys) rs2133811375
NM_213599.3(ANO5):c.267_268inv (p.Val90Ile)
NM_213599.3(ANO5):c.2698A>G (p.Met900Val) rs148293985
NM_213599.3(ANO5):c.2703T>G (p.Ile901Met)
NM_213599.3(ANO5):c.2704G>A (p.Glu902Lys)
NM_213599.3(ANO5):c.2715A>C (p.Lys905Asn)
NM_213599.3(ANO5):c.2716G>C (p.Ala906Pro) rs2133811614
NM_213599.3(ANO5):c.2719C>G (p.Gln907Glu) rs765305152
NM_213599.3(ANO5):c.2735C>T (p.Thr912Ile)
NM_213599.3(ANO5):c.2737C>T (p.Leu913Phe)
NM_213599.3(ANO5):c.2740T>C (p.Ter914Gln)
NM_213599.3(ANO5):c.2741A>C (p.Ter914Ser)
NM_213599.3(ANO5):c.2742A>T (p.Ter914Tyr)
NM_213599.3(ANO5):c.2742_*3dup (p.Ter914_Ter(914_?)(?))
NM_213599.3(ANO5):c.274A>G (p.Lys92Glu)
NM_213599.3(ANO5):c.277G>A (p.Asp93Asn) rs2133588922
NM_213599.3(ANO5):c.278A>G (p.Asp93Gly)
NM_213599.3(ANO5):c.285G>C (p.Glu95Asp)
NM_213599.3(ANO5):c.296A>G (p.Glu99Gly) rs571318959
NM_213599.3(ANO5):c.298A>G (p.Arg100Gly) rs1554924008
NM_213599.3(ANO5):c.312T>G (p.Phe104Leu)
NM_213599.3(ANO5):c.322C>T (p.Leu108Phe)
NM_213599.3(ANO5):c.337C>T (p.Leu113Phe)
NM_213599.3(ANO5):c.345G>A (p.Leu115=) rs975757101
NM_213599.3(ANO5):c.346_347delinsTT (p.Glu116Leu)
NM_213599.3(ANO5):c.358A>C (p.Lys120Gln)
NM_213599.3(ANO5):c.363G>A (p.Arg121=)
NM_213599.3(ANO5):c.364-3C>A
NM_213599.3(ANO5):c.365A>G (p.Asp122Gly)
NM_213599.3(ANO5):c.366C>A (p.Asp122Glu)
NM_213599.3(ANO5):c.385T>C (p.Tyr129His) rs370952911
NM_213599.3(ANO5):c.392T>G (p.Val131Gly)
NM_213599.3(ANO5):c.39A>G (p.Glu13=) rs774709754
NM_213599.3(ANO5):c.40+18_40+19delinsTC
NM_213599.3(ANO5):c.407C>T (p.Pro136Leu)
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
NM_213599.3(ANO5):c.414G>T (p.Glu138Asp) rs1421178168
NM_213599.3(ANO5):c.421G>C (p.Val141Leu) rs2133611690
NM_213599.3(ANO5):c.43G>C (p.Glu15Gln) rs2133520474
NM_213599.3(ANO5):c.458T>C (p.Ile153Thr)
NM_213599.3(ANO5):c.474T>G (p.Ile158Met)
NM_213599.3(ANO5):c.512G>T (p.Gly171Val) rs977056246
NM_213599.3(ANO5):c.526C>T (p.Pro176Ser)
NM_213599.3(ANO5):c.534T>G (p.Ser178Arg) rs1852879821
NM_213599.3(ANO5):c.535G>A (p.Val179Met) rs1852879938
NM_213599.3(ANO5):c.544C>G (p.Pro182Ala)
NM_213599.3(ANO5):c.544_558del (p.Pro182_Tyr186del)
NM_213599.3(ANO5):c.589G>A (p.Glu197Lys) rs770413331
NM_213599.3(ANO5):c.598C>G (p.Leu200Val) rs1323200040
NM_213599.3(ANO5):c.603C>A (p.Ile201=) rs182532539
NM_213599.3(ANO5):c.607G>C (p.Asp203His) rs750779803
NM_213599.3(ANO5):c.617C>G (p.Thr206Ser) rs1852885137
NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del) rs774304728
NM_213599.3(ANO5):c.625C>G (p.Pro209Ala) rs2133612986
NM_213599.3(ANO5):c.648+4G>A
NM_213599.3(ANO5):c.648+4G>C
NM_213599.3(ANO5):c.648+5G>C rs752512585
NM_213599.3(ANO5):c.649-11T>G rs2133647759
NM_213599.3(ANO5):c.655T>C (p.Tyr219His)
NM_213599.3(ANO5):c.681C>T (p.Gly227=)
NM_213599.3(ANO5):c.686A>G (p.Glu229Gly)
NM_213599.3(ANO5):c.728C>A (p.Ser243Tyr) rs1853214556
NM_213599.3(ANO5):c.742T>C (p.Ser248Pro)
NM_213599.3(ANO5):c.742T>G (p.Ser248Ala) rs751085690
NM_213599.3(ANO5):c.751C>A (p.Pro251Thr)
NM_213599.3(ANO5):c.751C>T (p.Pro251Ser) rs2133648746
NM_213599.3(ANO5):c.754C>G (p.Leu252Val)
NM_213599.3(ANO5):c.762+3_762+4del
NM_213599.3(ANO5):c.762+4T>C
NM_213599.3(ANO5):c.762+6T>G
NM_213599.3(ANO5):c.763-7T>G
NM_213599.3(ANO5):c.772T>C (p.Trp258Arg) rs747860868
NM_213599.3(ANO5):c.791C>G (p.Pro264Arg)
NM_213599.3(ANO5):c.794A>T (p.Asn265Ile) rs377553546
NM_213599.3(ANO5):c.811T>G (p.Tyr271Asp)
NM_213599.3(ANO5):c.823C>G (p.Gln275Glu)
NM_213599.3(ANO5):c.830G>T (p.Trp277Leu)
NM_213599.3(ANO5):c.832G>C (p.Ala278Pro)
NM_213599.3(ANO5):c.833C>T (p.Ala278Val) rs1853359096
NM_213599.3(ANO5):c.841T>C (p.Ser281Pro)
NM_213599.3(ANO5):c.842C>A (p.Ser281Tyr) rs1590266478
NM_213599.3(ANO5):c.851A>T (p.Tyr284Phe)
NM_213599.3(ANO5):c.863C>T (p.Pro288Leu)
NM_213599.3(ANO5):c.877A>C (p.Lys293Gln) rs1853361556
NM_213599.3(ANO5):c.88-8A>T
NM_213599.3(ANO5):c.899T>A (p.Ile300Asn) rs886044659
NM_213599.3(ANO5):c.932C>A (p.Thr311Lys) rs1564935740
NM_213599.3(ANO5):c.932C>T (p.Thr311Ile)
NM_213599.3(ANO5):c.934G>A (p.Glu312Lys) rs1853761986
NM_213599.3(ANO5):c.950C>A (p.Ala317Glu)
NM_213599.3(ANO5):c.991T>A (p.Ser331Thr)
NR_003051.3(RMRP):n.-10C>A rs572830134
NR_003051.3(RMRP):n.-10C>G rs572830134
NR_003051.3(RMRP):n.-10_-5dup6 rs1554651437
NR_003051.3(RMRP):n.-11G>A rs545020206
NR_003051.3(RMRP):n.-12A>G rs372044910
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-14_-13dupGA rs1554651511
NR_003051.3(RMRP):n.-15T>C rs765292137
NR_003051.3(RMRP):n.-15_-14delTG rs1554651515
NR_003051.3(RMRP):n.-17_-15dupTGT rs1554651531
NR_003051.3(RMRP):n.-18C>T rs775303012
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-20C>T rs183974004
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-23C>A rs188660894
NR_003051.3(RMRP):n.-24A>C rs529852688
NR_003051.3(RMRP):n.-24A>T rs529852688
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-25_-24delTA rs1160072325
NR_003051.3(RMRP):n.-29_-23del7 rs1554651555
NR_003051.3(RMRP):n.-2G>A rs958637129
NR_003051.3(RMRP):n.-2G>T rs958637129
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-31A>G rs145463993
NR_003051.3(RMRP):n.-4A>G rs555890962
NR_003051.3(RMRP):n.-4A>T rs555890962
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-54T>A rs181777676
NR_003051.3(RMRP):n.-55delA rs1554651600
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA rs1554651593
NR_003051.3(RMRP):n.-5G>T rs7024732
NR_003051.3(RMRP):n.-5_6dup11 rs1554651348
NR_003051.3(RMRP):n.-6G>C rs191438045
NR_003051.3(RMRP):n.-6G>T rs191438045
NR_003051.3(RMRP):n.-73_-71delCCA rs1587920033
NR_003051.3(RMRP):n.-7A>T rs111909453
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.-8G>A rs898955976
NR_003051.3(RMRP):n.-9T>C rs12552387
NR_003051.3(RMRP):n.146C>T rs757576534
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.115C>G rs769331218
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.116_117insCC rs1554651212
NR_003051.4(RMRP):n.117T>G rs1437035543
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.120A>G
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.13_14insT rs1554651339
NR_003051.4(RMRP):n.141dup rs1554651181
NR_003051.4(RMRP):n.144G>C rs113967059
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.148G>C rs753874439
NR_003051.4(RMRP):n.148G>T rs753874439
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.154A>C rs1428585182
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.178_179GC[3] rs1554651154
NR_003051.4(RMRP):n.182delG rs1563906794
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.186G>T rs908555769
NR_003051.4(RMRP):n.187C>A rs1051076135
NR_003051.4(RMRP):n.196_204delTCAGCTCCC rs1554651129
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.223G>T
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.237_242delCAACCA rs1554651106
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.245C>T rs1260135124
NR_003051.4(RMRP):n.250C>T rs1554651104
NR_003051.4(RMRP):n.256C>A rs1170858087
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.25_43del19 rs1554651292
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.266C>T rs962412737
NR_003051.4(RMRP):n.267T>C rs557906740
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.2_6dup rs1554651347
NR_003051.4(RMRP):n.37C>G rs549085067
NR_003051.4(RMRP):n.37_38delCT rs1554651307
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.45delT rs1554651291
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.66T>A rs1357036842
NR_003051.4(RMRP):n.71_72dup rs1554651256
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.7G>C rs552002151
NR_003051.4(RMRP):n.84C>G rs1372572486
NR_003051.4(RMRP):n.84dup rs1222001621
NR_003051.4(RMRP):n.87C>G rs545284014
NR_003051.4(RMRP):n.87C>T rs545284014
NR_003051.4(RMRP):n.89G>A rs1264110860
NR_003051.4(RMRP):n.8T>G rs587781140
NR_003051.4(RMRP):n.92A>G rs752723025
NR_003051.4(RMRP):n.99_101delGCC rs1554651230
NR_023317.1(RNU7-1):n.23T>G
Single allele

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