ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19544
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.3(CFTR):c.-102A= rs1797973431 0.99999
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436 0.00450
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs) rs753591187 0.00072
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs) rs766167046 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_015294.6(TRIM37):c.493-2A>G rs186251998 0.00070
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_004260.4(RECQL4):c.1390+2del rs386833843 0.00043
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 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_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) rs141488085 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_003104.6(SORD):c.458C>A (p.Ala153Asp) rs145813597 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_183065.4(TMEM107):c.*678G>A rs372252345 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 0.00024
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) rs369437168 0.00024
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu) rs200585917 0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter) rs370032864 0.00022
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_001080476.3(GRXCR1):c.627+19A>T rs201824235 0.00021
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) rs1420939606 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter) rs199716160 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser) rs200708284 0.00019
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_020661.4(AICDA):c.416T>C (p.Met139Thr) rs200858797 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His) rs548137246 0.00017
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter) rs201706487 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_006793.5(PRDX3):c.604G>A (p.Asp202Asn) rs548327727 0.00017
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) rs377748152 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp) rs369359789 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) rs139763321 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_003937.3(KYNU):c.170-1G>T rs1135401744 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter) rs182144885 0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter) rs1488095558 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met) rs187308159 0.00012
NM_017433.5(MYO3A):c.892C>T (p.Gln298Ter) rs563832490 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) rs80358273 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_020921.4(NIN):c.3665A>G (p.Gln1222Arg) rs187464517 0.00011
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met) rs34675173 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter) rs967105970 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989 0.00010
NM_001184.4(ATR):c.6897+464C>G rs587777852 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln) rs573267388 0.00010
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) rs267606671 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met) rs104893976 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs) rs80338804 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005879.3(TRAIP):c.553C>T (p.Arg185Ter) rs767664526 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) rs778043242 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167 0.00009
NM_016239.4(MYO15A):c.5964+3G>C rs530975087 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) rs121909363 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006736.6(DNAJB2):c.175+2T>A rs562669797 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly) rs202061531 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs) rs745806762 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 0.00007
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000082.4(ERCC8):c.173+1119G>C rs1043679457 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) rs760203204 0.00006
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val) rs775903553 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val) rs202128350 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001139.3(ALOX12B):c.1654+3A>G rs371537819 0.00006
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) rs281865414 0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter) rs752714222 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter) rs782261248 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter) rs730880125 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn) rs397514746 0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854 0.00006
NM_014026.6(DCPS):c.260C>T (p.Thr87Met) rs138737928 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys) rs587781245 0.00006
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter) rs757301110 0.00006
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) rs368928190 0.00006
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter) rs752352896 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694 0.00006
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) rs142908436 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs) rs763343580 0.00006
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs) rs765912979 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) rs200652608 0.00006
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) rs748082671 0.00006
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_183065.4(TMEM107):c.*686A>G rs201558321 0.00006
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala) rs746372120 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) rs1421964916 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001194998.2(CEP152):c.1155del (p.Thr386fs) rs587783414 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588 0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys) rs767778853 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg) rs387906861 0.00005
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880 0.00005
NM_005883.3(APC2):c.1063G>A (p.Val355Ile) rs751785909 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser) rs1010722195 0.00005
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536 0.00005
NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala) rs778931753 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 0.00005
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 0.00005
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) rs387906917 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) rs757481015 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) rs886082025 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 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_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000400.4(ERCC2):c.183+2T>A rs201127596 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 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_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) rs387907324 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384 0.00004
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) rs138775799 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) rs774333332 0.00004
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter) rs775072385 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001349232.2(ATG7):c.2080-2A>G rs200074530 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) rs770296270 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001393500.2(TOMT):c.229G>A (p.Glu77Lys) rs137853187 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_003052.5(SLC34A1):c.644+1G>A rs201304511 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004393.6(DAG1):c.220G>A (p.Val74Ile) rs189360006 0.00004
NM_004766.3(COPB2):c.760C>T (p.Arg254Cys) rs1229568621 0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) rs113875421 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter) rs74315322 0.00004
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter) rs201845656 0.00004
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter) rs371560438 0.00004
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter) rs750789505 0.00004
NM_006846.4(SPINK5):c.389_392dup (p.Leu132fs) rs756874525 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter) rs746453731 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs) rs748950922 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) rs147431446 0.00004
NM_018131.5(CEP55):c.993+3A>C rs572584581 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter) rs373278668 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018451.5(CENPJ):c.289dup (p.Thr97fs) rs759188041 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226 0.00004
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp) rs538389475 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020458.4(TTC7A):c.1784_1787del (p.Glu595fs) rs1300446486 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00004
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) rs142781546 0.00004
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) rs373520842 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs) rs1216637259 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala) rs559784211 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_024580.6(EFL1):c.89A>G (p.His30Arg) rs370108445 0.00004
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) rs748663904 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_138694.4(PKHD1):c.11665+1G>A rs759851475 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser) rs587777133 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_183065.4(TMEM107):c.*671G>A rs886039784 0.00004
NM_183065.4(TMEM107):c.*688G>A rs372721948 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000082.4(ERCC8):c.650del (p.Arg217fs) rs1561502158 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=) rs778647317 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000165.5(GJA1):c.227G>A (p.Arg76His) rs267606844 0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) rs550562774 0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His) rs62507320 0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val) rs199475572 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105 0.00003
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 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_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000320.3(QDPR):c.545+1G>A rs761619802 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 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.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.1466C>A (p.Ser489Ter) rs397508211 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2668C>T (p.Gln890Ter) rs79633941 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 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.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000492.4(CFTR):c.653T>A (p.Leu218Ter) rs397508777 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) rs374536805 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001080476.3(GRXCR1):c.628-9C>A rs606231120 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile) rs773052129 0.00003
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) rs371100799 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr) rs387906978 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp) rs281865557 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199563.2(BVES):c.1A>G (p.Met1Val) rs1332603843 0.00003
NM_001242882.2(NAXD):c.948_949insTT (p.Ala317fs) rs778824382 0.00003
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn) rs199566950 0.00003
NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter) rs868818936 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln) rs139895222 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735 0.00003
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His) rs142493104 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378609.3(OTOGL):c.1457del (p.Val486fs) rs1233562246 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter) rs397514588 0.00003
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_002161.6(IARS1):c.213T>G (p.Tyr71Ter) rs765771535 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_003104.6(SORD):c.328C>T (p.Arg110Ter) rs745509632 0.00003
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003672.4(CDC14A):c.376del (p.Tyr126fs) rs759201338 0.00003
NM_003805.5(CRADD):c.491T>G (p.Phe164Cys) rs370916968 0.00003
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter) rs782188850 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004086.3(COCH):c.292C>T (p.Arg98Ter) rs756790858 0.00003
NM_004526.4(MCM2):c.130C>T (p.Arg44Cys) rs375851208 0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_005548.3(KARS1):c.433T>C (p.Tyr145His) rs397514745 0.00003
NM_005687.5(FARSB):c.767C>T (p.Thr256Met) rs753710639 0.00003
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter) rs1449250083 0.00003
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn) rs761564262 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter) rs192473445 0.00003
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) rs121909341 0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_012478.4(WBP2):c.478G>A (p.Ala160Thr) rs202022024 0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter) rs387907104 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
NM_015102.5(NPHP4):c.2260G>A (p.Gly754Arg) rs373962831 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_015665.6(AAAS):c.1191dup (p.Glu398fs) rs746305979 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys) rs760710474 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 0.00003
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val) rs191710555 0.00003
NM_016239.4(MYO15A):c.3756+1G>T rs748108031 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_016614.3(TDP2):c.425+1G>A rs372245668 0.00003
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) rs753237335 0.00003
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg) rs387907089 0.00003
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter) rs1400164869 0.00003
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter) rs781848162 0.00003
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386 0.00003
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) rs150989205 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020458.4(TTC7A):c.1204-2A>G rs876657392 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271 0.00003
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_020779.4(WDR35):c.25-2A>G rs397515534 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) rs756503608 0.00003
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) rs140403642 0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys) rs753888773 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) rs74315319 0.00003
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) rs387906961 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) rs185089786 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_025074.7(FRAS1):c.11298+1G>A rs371268544 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter) rs746618021 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_032808.7(LINGO1):c.869G>A (p.Arg290His) rs757077698 0.00003
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) rs1191239079 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 0.00003
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) rs748931188 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs) rs1388716999 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_144772.3(NAXE):c.196C>T (p.Gln66Ter) rs759251812 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.698T>A (p.Val233Asp) rs144148976 0.00003
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_173543.3(DZIP1L):c.269C>T (p.Ala90Val) rs555349004 0.00003
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys) rs104893975 0.00003
NM_183065.4(TMEM107):c.*674_*675insT rs757706428 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_194292.3(SASS6):c.127-13A>G rs1406541512 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) rs786205519 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_213599.3(ANO5):c.2176dup (p.Ser726fs) rs797044667 0.00003
NM_213599.3(ANO5):c.762+1G>A rs372221490 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000070.3(CAPN3):c.1800+2T>C rs748194118 0.00002
NM_000070.3(CAPN3):c.1801-1G>A rs886043752 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) rs1424799320 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000083.3(CLCN1):c.830dup (p.Cys277fs) rs140026363 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000163.5(GHR):c.594A>G (p.Glu198=) rs121909360 0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000208.4(INSR):c.707A>G (p.His236Arg) rs121913145 0.00002
NM_000211.5(ITGB2):c.2070del (p.Asp690fs) rs1466186480 0.00002
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 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.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) rs730880963 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) rs765729815 0.00002
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000320.3(QDPR):c.1A>T (p.Met1Leu) rs1034528249 0.00002
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000336.3(SCNN1B):c.1542+1G>A rs550424284 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.132T>A (p.Ser44Arg) rs755700581 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter) rs199643821 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1405A>G (p.Met469Val) rs397508203 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.490-1G>A rs397508734 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) rs752148586 0.00002
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196 0.00002
NM_000553.6(WRN):c.210-1G>A rs758988621 0.00002
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter) rs766733097 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000553.6(WRN):c.896dup (p.Ile300fs) rs757968518 0.00002
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter) rs149258390 0.00002
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029 0.00002
NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg) rs370457498 0.00002
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.49del (p.Ala17fs) rs587781704 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 0.00002
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) rs769688376 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) rs199543257 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) rs559401066 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro) rs63750410 0.00002
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) rs66913554 0.00002
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg) rs78678589 0.00002
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001205254.2(OCLN):c.1037+1G>A rs748442113 0.00002
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter) rs373915080 0.00002
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395 0.00002
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg) rs764523283 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter) rs866476223 0.00002
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) rs1064793157 0.00002
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320 0.00002
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter) rs373763986 0.00002
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) rs776003330 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn) rs373148099 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter) rs779187578 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001382391.1(CSPP1):c.1976-2A>G rs1320076769 0.00002
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00002
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs) rs750696284 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter) rs909435840 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001393500.2(TOMT):c.259+4A>C rs545947177 0.00002
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp) rs750331613 0.00002
NM_001692.4(ATP6V1B1):c.585+1G>A rs782723581 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.2784+1G>T rs797044803 0.00002
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) rs139497493 0.00002
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) rs754597019 0.00002
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) rs777997657 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959 0.00002
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys) rs765122670 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) rs387906828 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_004830.4(MED23):c.2832dup (p.Val945fs) rs771485728 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005548.3(KARS1):c.1430G>A (p.Arg477His) rs778748895 0.00002
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006736.6(DNAJB2):c.620-1G>A rs764813110 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006846.4(SPINK5):c.1888-1G>A rs759255682 0.00002
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter) rs776293648 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868 0.00002
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter) rs367958902 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly) rs121908941 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_014026.6(DCPS):c.636+1G>A rs770528538 0.00002
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) rs121918228 0.00002
NM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly) rs387907105 0.00002
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter) rs370370334 0.00002
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter) rs145646425 0.00002
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter) rs963142616 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter) rs553512431 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) rs141097216 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter) rs1431992617 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His) rs373520843 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu) rs774616573 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996 0.00002
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) rs119467003 0.00002
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) rs387907111 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter) rs766096320 0.00002
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_021828.5(HPSE2):c.1414C>T (p.Arg472Ter) rs267606864 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter) rs771210121 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) rs747806672 0.00002
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) rs199544410 0.00002
NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln) rs1437210856 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala) rs756494164 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) rs186964660 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter) rs137852833 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6012-12T>A rs752197734 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) rs775189201 0.00002
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) rs748174246 0.00002
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg) rs1268725013 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) rs765376986 0.00002
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter) rs267600727 0.00002
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440 0.00002
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter) rs1039467525 0.00002
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg) rs946085339 0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) rs148559256 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) rs121908074 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter) rs765934021 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 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.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp) rs747620551 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_183065.4(TMEM107):c.*689A>G rs1400162090 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) rs763111500 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068 0.00002
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) rs387906802 0.00002
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) rs104894676 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) rs757154662 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter) rs121912598 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_213599.3(ANO5):c.1944_1945del (p.Lys650fs) rs1308707703 0.00002
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter) rs749645231 0.00002
NC_000005.9:g.118829592G>T rs368744809 0.00001
NC_000007.14:g.117478787A>G rs1195721615 0.00001
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000019.4(ACAT1):c.1163+1G>A rs1423476705 0.00001
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907 0.00001
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn) rs746332363 0.00001
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) rs1305448140 0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) rs1469248513 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000067.3(CA2):c.319C>T (p.His107Tyr) rs118203933 0.00001
NM_000067.3(CA2):c.508-1G>C rs1444065478 0.00001
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter) rs965032792 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp) rs781723572 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.1A>G (p.Met1Val) rs1566965796 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val) rs886042557 0.00001
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=) rs886043220 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe) rs121434546 0.00001
NM_000070.3(CAPN3):c.2del (p.Met1fs) rs1566965806 0.00001
NM_000070.3(CAPN3):c.379+3A>G rs1164215001 0.00001
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter) rs878854364 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 0.00001
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg) rs777829958 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.853dup (p.Glu285fs) rs761257703 0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547 0.00001
NM_000082.4(ERCC8):c.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.618-1G>A rs201464610 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro) rs1279658001 0.00001
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) rs1360333956 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) rs1319653705 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) rs376321837 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) rs769092535 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.789del (p.Ser264fs) rs770081373 0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) rs921162119 0.00001
NM_000083.3(CLCN1):c.854-2A>G rs1802699135 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp) rs374340855 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs) rs761200469 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) rs121434573 0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) rs121434572 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.543+4del rs527236039 0.00001
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000163.5(GHR):c.168C>A (p.Cys56Ter) rs121909359 0.00001
NM_000163.5(GHR):c.504T>G (p.His168Gln) rs121909373 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp) rs765910207 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter) rs1403798841 0.00001
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) rs1308509257 0.00001
NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) rs121913151 0.00001
NM_000208.4(INSR):c.1459A>G (p.Lys487Glu) rs121913136 0.00001
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) rs387906411 0.00001
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) rs137852615 0.00001
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter) rs148877937 0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter) rs773554421 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) rs150058137 0.00001
NM_000254.3(MTR):c.2101del (p.Tyr701fs) rs762727293 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) rs201718371 0.00001
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171 0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) rs778934538 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter) rs1236207116 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) rs120074134 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter) rs775629081 0.00001
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser) rs143797098 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr) rs751951695 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) rs768999208 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3309dup (p.Val1104fs) rs1057517194 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly) rs144725473 0.00001
NM_000271.5(NPC1):c.3477+2T>C rs772898831 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3591+4del rs794727371 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) rs62516103 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672 0.00001
NM_000277.3(PAH):c.183C>G (p.Asn61Lys) rs199475634 0.00001
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.275C>T (p.Thr92Ile) rs62514903 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.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.36del (p.Arg13fs) rs1878413079 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+4A>G rs62508586 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000277.3(PAH):c.493G>A (p.Ala165Thr) rs199475626 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.532G>A (p.Glu178Lys) rs1448720360 0.00001
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671 0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.737del (p.Ala246fs) rs199475666 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.848T>A (p.Ile283Asn) rs62508693 0.00001
NM_000277.3(PAH):c.865G>A (p.Gly289Arg) rs199475693 0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe) rs62642095 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.970-1G>A rs202183605 0.00001
NM_000277.3(PAH):c.970A>G (p.Ile324Val) rs1221031352 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000277.3(PAH):c.997C>T (p.Leu333Phe) rs62516060 0.00001
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) rs104894177 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.31del (p.Ala11fs) rs1290469936 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1313dup (p.Glu439fs) rs770055192 0.00001
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter) rs1769875600 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2205del (p.Arg736fs) rs1197432552 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter) rs773056086 0.00001
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000288.4(PEX7):c.804-2A>C rs774676095 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter) rs1433428588 0.00001
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436 0.00001
NM_000302.4(PLOD1):c.467-2del rs1440249864 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser) rs141163668 0.00001
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter) rs765777664 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) rs1224562361 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) rs1407920390 0.00001
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser) rs769460415 0.00001
NM_000320.3(QDPR):c.644G>A (p.Trp215Ter) rs778806991 0.00001
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) rs779997983 0.00001
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) rs104893863 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter) rs1235881190 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) rs1395763356 0.00001
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) rs749242996 0.00001
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 0.00001
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 0.00001
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter) rs1202384396 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.644-2A>C rs61752891 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.725+2T>A rs1355979496 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) rs761471961 0.00001
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) rs1645879569 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706 0.00001
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter) rs1768838504 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.205-1G>C rs886040963 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326 0.00001
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) rs778479250 0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) rs752510317 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.58+1G>T rs1260517680 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp) rs771780974 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1150-1G>A rs1791525285 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs) rs1271700356 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.349del (p.Leu117fs) rs1275009555 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.415+7A>G rs765884316 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000466.3(PEX1):c.1126del (p.Glu376fs) rs751829426 0.00001
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter) rs1792222710 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1081del (p.Trp361fs) rs387906361 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1393-2A>G rs397508201 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 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.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn) rs121909006 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.234dup (p.Trp79fs) rs1189377616 0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter) rs374946172 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2537G>A (p.Trp846Ter) rs397508393 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2810dup (p.Val938fs) rs193922510 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter) rs397508484 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3808del (p.Asp1270fs) rs763843966 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.868C>T (p.Gln290Ter) rs397508808 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000506.3(F2):c.1054G>A (p.Glu352Lys) rs121918484 0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp) rs121918478 0.00001
NM_000506.5(F2):c.260A>G (p.Tyr87Cys) rs1227147475 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs) rs759389193 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217 0.00001
NM_000553.6(WRN):c.1486A>T (p.Lys496Ter) rs751969803 0.00001
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) rs143916053 0.00001
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) rs763089663 0.00001
NM_000553.6(WRN):c.2551G>T (p.Glu851Ter) rs1428459485 0.00001
NM_000553.6(WRN):c.2855C>G (p.Ser952Ter) rs1441659798 0.00001
NM_000553.6(WRN):c.2952del (p.Leu984fs) rs1455560468 0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 0.00001
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595 0.00001
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter) rs1319491415 0.00001
NM_000553.6(WRN):c.3383+1G>T rs1413656527 0.00001
NM_000553.6(WRN):c.3384-1G>A rs776963381 0.00001
NM_000553.6(WRN):c.3460-1G>A rs1802899166 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) rs1303126572 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848 0.00001
NM_000553.6(WRN):c.961G>T (p.Glu321Ter) rs779012596 0.00001
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro) rs28936683 0.00001
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_000760.4(CSF3R):c.799del (p.Glu267fs) rs759302795 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_001013838.3(CARMIL2):c.871+1G>T rs886041044 0.00001
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter) rs121908952 0.00001
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) rs867772426 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) rs1280238814 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) rs748559081 0.00001
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) rs1189889920 0.00001
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088 0.00001
NM_001031679.3(MSRB3):c.391-1G>A rs751906778 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030 0.00001
NM_001039213.4(CEACAM16):c.763A>G (p.Arg255Gly) rs1347137461 0.00001
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) rs587777072 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter) rs587777603 0.00001
NM_001042472.3(ABHD12):c.867+2C>T rs1437849678 0.00001
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter) rs397515430 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634 0.00001
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter) rs1687223389 0.00001
NM_001044385.3(TMEM237):c.677+1G>A rs793888505 0.00001
NM_001048166.1(STIL):c.453+5G>A rs863225464 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) rs863224502 0.00001
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) rs370124822 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) rs1553129892 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.437G>A (p.Trp146Ter) rs1306473047 0.00001
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) rs768386527 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter) rs376561094 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) rs1064796630 0.00001
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter) rs773087549 0.00001
NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter) rs1338038953 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) rs587781338 0.00001
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985 0.00001
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) rs397515400 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.605+1G>T rs766648827 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter) rs759848847 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter) rs543122080 0.00001
NM_001077418.3(TMEM231):c.582+1G>A rs752141701 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) rs779331797 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys) rs267606856 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001080516.2(GRXCR2):c.323C>T (p.Ala108Val) rs773457218 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) rs387907082 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.363del (p.Asp122fs) rs587776901 0.00001
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His) rs121908857 0.00001
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) rs370356566 0.00001
NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp) rs750991783 0.00001
NM_001099287.2(NIPAL4):c.523del (p.His175fs) rs1212378071 0.00001
NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg) rs757041309 0.00001
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter) rs370499190 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) rs104894414 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) rs1044845711 0.00001
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395 0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) rs61752136 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter) rs765622323 0.00001
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501 0.00001
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala) rs863225047 0.00001
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter) rs1746736672 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1352+1del rs747861275 0.00001
NM_001128178.3(NPHP1):c.1390G>T (p.Glu464Ter) rs764740388 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) rs1473345628 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001128431.4(SLC39A14):c.1066G>A (p.Gly356Ser) rs774860376 0.00001
NM_001128431.4(SLC39A14):c.382C>T (p.Arg128Trp) rs1291490743 0.00001
NM_001129.5(AEBP1):c.1630+1G>A rs369016031 0.00001
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) rs1443187318 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) rs768546511 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) rs886042389 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.2698-2A>G rs1420930684 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) rs763674597 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001134831.2(AHI1):c.1152-2A>G rs753085250 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911 0.00001
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993 0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met) rs760428119 0.00001
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His) rs759484732 0.00001
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) rs397514529 0.00001
NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr) rs752176414 0.00001
NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) rs397514531 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) rs764862348 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys) rs1977079083 0.00001
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) rs763468558 0.00001
NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys) rs368323729 0.00001
NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) rs1360781582 0.00001
NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg) rs1398340320 0.00001
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) rs397514533 0.00001
NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) rs1978297441 0.00001
NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) rs1256507861 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) rs745541957 0.00001
NM_001139.3(ALOX12B):c.353-2A>G rs775524204 0.00001
NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val) rs138503921 0.00001
NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu) rs147784568 0.00001
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) rs201575829 0.00001
NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) rs1197603391 0.00001
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001160372.4(TRAPPC9):c.3279+1G>A rs1489634479 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly) rs1357894483 0.00001
NM_001171.6(ABCC6):c.2258T>C (p.Leu753Pro) rs1555512484 0.00001
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro) rs72653797 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser) rs63750446 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=) rs63751111 0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) rs63751241 0.00001
NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg) rs63750700 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) rs587777546 0.00001
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs1453839157 0.00001
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr) rs387907327 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter) rs515726134 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser) rs1183009408 0.00001
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) rs199744635 0.00001
NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) rs796206315 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_001205254.2(OCLN):c.1324G>T (p.Glu442Ter) rs759507153 0.00001
NM_001206999.2(CIT):c.412C>T (p.Gln138Ter) rs879255523 0.00001
NM_001218.5(CA12):c.427G>A (p.Glu143Lys) rs267606694 0.00001
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) rs28939084 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) rs565675340 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 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.38876-2A>C rs1185989004 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro) rs141748845 0.00001
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp) rs1244718647 0.00001
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg) rs2037381055 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) rs104893679 0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) rs104893680 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter) rs1385101139 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg) rs368190250 0.00001
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs) rs1478013002 0.00001
NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu) rs370232097 0.00001
NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser) rs766225189 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter) rs749475936 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs) rs1364954371 0.00001
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs) rs1253807820 0.00001
NM_001329943.3(KIAA0586):c.4495+3777del rs1237632090 0.00001
NM_001329943.3(KIAA0586):c.4495+3785A>T rs942756021 0.00001
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter) rs1300934931 0.00001
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499 0.00001
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter) rs890363450 0.00001
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter) rs777733574 0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu) rs766188849 0.00001
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys) rs372072356 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter) rs1674604760 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter) rs192823093 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11668+1G>A rs1181992959 0.00001
NM_001378454.1(ALMS1):c.11669-1G>C rs750737346 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter) rs568037602 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998 0.00001
NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter) rs1671899045 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter) rs779928593 0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter) rs1392057115 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171 0.00001
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs) rs745461983 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter) rs1438410766 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter) rs1238145717 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter) rs1303829798 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_001378609.3(OTOGL):c.2391-2A>G rs374272301 0.00001
NM_001378609.3(OTOGL):c.5265+5G>A rs902734999 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173 0.00001
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648 0.00001
NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala) rs863225174 0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) rs775285273 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter) rs1225726214 0.00001
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter) rs1380418532 0.00001
NM_001382391.1(CSPP1):c.2968+1G>T rs587777142 0.00001
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) rs760275528 0.00001
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter) rs774703929 0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3373+1G>A rs2085799827 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370 0.00001
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter) rs963520367 0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs) rs1725827570 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln) rs137853185 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys) rs782500780 0.00001
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) rs782152033 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter) rs867518898 0.00001
NM_002161.6(IARS1):c.1252C>T (p.Arg418Ter) rs764500338 0.00001
NM_002161.6(IARS1):c.2215C>T (p.Arg739Cys) rs747311061 0.00001
NM_002161.6(IARS1):c.760C>T (p.Arg254Ter) rs886037875 0.00001
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002180.3(IGHMBP2):c.1061-2A>G rs1424522130 0.00001
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr) rs760811074 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669 0.00001
NM_002180.3(IGHMBP2):c.711+1G>C rs774079947 0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_002292.4(LAMB2):c.1390_1391insA (p.Arg464fs) rs1560075930 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) rs1218889239 0.00001
NM_002292.4(LAMB2):c.4201del (p.Ser1401fs) rs754137583 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4573C>T (p.Gln1525Ter) rs376983109 0.00001
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) rs775456607 0.00001
NM_002292.4(LAMB2):c.4804del (p.Gln1602fs) rs769399002 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) rs121908667 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter) rs1396340484 0.00001
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) rs397514665 0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) rs1421007019 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs) rs1408257020 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly) rs764139009 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter) rs1394437421 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002617.4(PEX10):c.211G>T (p.Glu71Ter) rs1291325133 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002618.4(PEX13):c.201dup (p.Val68fs) rs1288976071 0.00001
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185 0.00001
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter) rs1178588746 0.00001
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) rs1428782325 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002857.4(PEX19):c.398dup (p.Ser134fs) rs1240816309 0.00001
NM_002860.4(ALDH18A1):c.1923+1G>A rs863223315 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_002906.4(RDX):c.698+1G>A rs1191259480 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_003383.5(VLDLR):c.83-1G>A rs770269674 0.00001
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs) rs892468166 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer) rs752086581 0.00001
NM_003504.5(CDC45):c.318C>T (p.Val106=) rs745800041 0.00001
NM_003573.2(LTBP4):c.76-1G>A rs781735457 0.00001
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter) rs1243154971 0.00001
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter) rs201179294 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) rs777112652 0.00001
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) rs771622183 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003801.4(GPAA1):c.619del (p.Met207fs) rs782615259 0.00001
NM_003805.5(CRADD):c.508C>T (p.Arg170Cys) rs749655461 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter) rs397515419 0.00001
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter) rs778265926 0.00001
NM_003896.4(ST3GAL5):c.333T>G (p.Tyr111Ter) rs368298013 0.00001
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955 0.00001
NM_003937.3(KYNU):c.788A>G (p.His263Arg) rs1458654786 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) rs387906598 0.00001
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) rs121908934 0.00001
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer) rs763817505 0.00001
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys) rs373671398 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) rs281865486 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) rs281865495 0.00001
NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) rs772135867 0.00001
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter) rs1648206560 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter) rs1218545995 0.00001
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) rs61752117 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln) rs370667926 0.00001
NM_004830.4(MED23):c.382G>A (p.Gly128Arg) rs569927513 0.00001
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) rs1178109063 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.462-10C>T rs765481486 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.668del (p.Cys223fs) rs770145986 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) rs121912558 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter) rs2099895754 0.00001
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter) rs1461242879 0.00001
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) rs762738968 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005419.4(STAT2):c.442C>T (p.Arg148Trp) rs1458224681 0.00001
NM_005419.4(STAT2):c.443G>A (p.Arg148Gln) rs1879360038 0.00001
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr) rs753896285 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005529.7(HSPG2):c.8316+1G>A rs927473035 0.00001
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser) rs1466642025 0.00001
NM_005687.5(FARSB):c.914G>A (p.Arg305Gln) rs773579570 0.00001
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170 0.00001
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs) rs780281715 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NM_005861.4(STUB1):c.719T>C (p.Met240Thr) rs587777345 0.00001
NM_005881.4(BCKDK):c.1159C>T (p.Gln387Ter) rs1035318937 0.00001
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) rs397514573 0.00001
NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys) rs778583017 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) rs745971874 0.00001
NM_006019.4(TCIRG1):c.196+5G>A rs1470999303 0.00001
NM_006019.4(TCIRG1):c.2014-1G>A rs1197237618 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=) rs1293760338 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter) rs374758765 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_006331.8(EMG1):c.257A>G (p.Asp86Gly) rs74435397 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) rs104894458 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter) rs1286714661 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031 0.00001
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter) rs1182614290 0.00001
NM_006739.4(MCM5):c.850_851del (p.Arg284fs) rs760621295 0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys) rs387906889 0.00001
NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg) rs1381176199 0.00001
NM_006846.4(SPINK5):c.2240+1G>A rs775341740 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter) rs1482249008 0.00001
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_006907.4(PYCR1):c.59dup (p.Ala21fs) rs762218403 0.00001
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val) rs770505872 0.00001
NM_006907.4(PYCR1):c.728A>G (p.His243Arg) rs2041098364 0.00001
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_007254.4(PNKP):c.148C>G (p.Gln50Glu) rs756746191 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln) rs1363954556 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_012208.4(HARS2):c.647G>A (p.Arg216Gln) rs1229581230 0.00001
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) rs749799529 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) rs111033571 0.00001
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter) rs398124253 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012448.4(STAT5B):c.1433C>T (p.Ala478Val) rs1555548678 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln) rs398123011 0.00001
NM_013322.3(SNX10):c.46C>T (p.Arg16Ter) rs587777490 0.00001
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter) rs397518460 0.00001
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014396.4(VPS41):c.1423-2A>G rs1220530084 0.00001
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro) rs544223875 0.00001
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) rs730880262 0.00001
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) rs748555538 0.00001
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) rs121918229 0.00001
NM_014797.3(ZBTB24):c.1192C>T (p.Arg398Ter) rs867580676 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014889.4(PITRM1):c.548G>A (p.Arg183Gln) rs1249144069 0.00001
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter) rs202001274 0.00001
NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter) rs1057519304 0.00001
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) rs1564482221 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter) rs1237376396 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_015102.5(NPHP4):c.685C>T (p.Arg229Ter) rs780268322 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015160.3(PMPCA):c.1408+1G>A rs753895120 0.00001
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg) rs869025293 0.00001
NM_015160.3(PMPCA):c.766G>A (p.Val256Met) rs746549806 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) rs373520509 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys) rs1269970737 0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299 0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) rs749627411 0.00001
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) rs864309642 0.00001
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val) rs746736545 0.00001
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter) rs769561543 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1609-1G>T rs515726143 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter) rs779028596 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter) rs752442185 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter) rs1300333132 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter) rs374232191 0.00001
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter) rs778326858 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg) rs750055952 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015665.6(AAAS):c.1087+1G>A rs1035139364 0.00001
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter) rs754078574 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015910.7(WDPCP):c.301C>T (p.Arg101Ter) rs772536466 0.00001
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) rs530999984 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_016038.4(SBDS):c.13del (p.Thr5fs) rs772797192 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) rs387907195 0.00001
NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys) rs1233885358 0.00001
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter) rs587777486 0.00001
NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter) rs777412559 0.00001
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter) rs1162641847 0.00001
NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter) rs1198459012 0.00001
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter) rs1207804224 0.00001
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter) rs368619022 0.00001
NM_016122.3(CEP83):c.643C>T (p.Arg215Ter) rs750092874 0.00001
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile) rs746489573 0.00001
NM_016194.4(GNB5):c.1120C>T (p.Arg374Ter) rs773902879 0.00001
NM_016194.4(GNB5):c.375+3A>G rs766004901 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter) rs753503405 0.00001
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter) rs1207589187 0.00001
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.3866+1G>A rs374742590 0.00001
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_016239.4(MYO15A):c.4322G>T (p.Gly1441Val) rs772995303 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 0.00001
NM_016239.4(MYO15A):c.6956+9C>G rs1482709090 0.00001
NM_016239.4(MYO15A):c.7396-1G>A rs760461823 0.00001
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_016239.4(MYO15A):c.8340+5G>A rs752773977 0.00001
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) rs878853228 0.00001
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala) rs983107737 0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384 0.00001
NM_016239.4(MYO15A):c.8968-1G>T rs746051220 0.00001
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) rs1330631412 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter) rs121918368 0.00001
NM_016302.4(CRBN):c.433C>T (p.Arg145Ter) rs1302797003 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys) rs1391730624 0.00001
NM_016373.4(WWOX):c.172+1G>C rs1377640182 0.00001
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) rs121908584 0.00001
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) rs891111781 0.00001
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter) rs146264153 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016529.6(ATP8A2):c.77-2A>G rs373909734 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) rs763944898 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs) rs547792505 0.00001
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter) rs779620838 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) rs193919337 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.458C>G (p.Ser153Ter) rs1048865247 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg) rs587776908 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_017875.4(SLC25A38):c.277-2A>C rs1198314410 0.00001
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) rs762562272 0.00001
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) rs755205622 0.00001
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) rs1218815001 0.00001
NM_018063.5(HELLS):c.370+2T>A rs140316223 0.00001
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp) rs267606900 0.00001
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter) rs201430235 0.00001
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs) rs754767041 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs) rs1404276011 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs) rs759632528 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) rs1334947797 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) rs77424753 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) rs769220327 0.00001
NM_018249.6(CDK5RAP2):c.1279C>T (p.Arg427Ter) rs774388179 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter) rs587783392 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter) rs766512058 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter) rs587783410 0.00001
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526 0.00001
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110 0.00001
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) rs104894001 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_018965.4(TREM2):c.482+2T>C rs386834144 0.00001
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter) rs751986220 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter) rs779894269 0.00001
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=) rs574462207 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter) rs765653721 0.00001
NM_020458.4(TTC7A):c.1783G>T (p.Glu595Ter) rs201481224 0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) rs587776972 0.00001
NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr) rs876657393 0.00001
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr) rs202044972 0.00001
NM_020458.4(TTC7A):c.844-1G>T rs777469885 0.00001
NM_020631.6(PLEKHG5):c.1132-2A>C rs1557742277 0.00001
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter) rs1443592761 0.00001
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs) rs1266507622 0.00001
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter) rs769417807 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 0.00001
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) rs1057520542 0.00001
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) rs104894323 0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644 0.00001
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) rs767751856 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro) rs397515533 0.00001
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) rs267607175 0.00001
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) rs387907163 0.00001
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) rs387907164 0.00001
NM_020921.4(NIN):c.2482del (p.Arg828fs) rs747680111 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.1254del (p.Ser419fs) rs2050902019 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.2450C>A (p.Ser817Ter) rs908790331 0.00001
NM_020964.3(EPG5):c.2461C>T (p.Arg821Ter) rs759625169 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) rs374321183 0.00001
NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs) rs759930622 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_020964.3(EPG5):c.7057C>T (p.Gln2353Ter) rs763931697 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151 0.00001
NM_021628.3(ALOXE3):c.1786-2A>G rs139375856 0.00001
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) rs367827093 0.00001
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter) rs370031870 0.00001
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His) rs745480657 0.00001
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) rs764052154 0.00001
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs) rs1472087421 0.00001
NM_021800.3(DNAJC12):c.158-2A>T rs775029664 0.00001
NM_021800.3(DNAJC12):c.79-2A>G rs1277990552 0.00001
NM_021800.3(DNAJC12):c.85del (p.Gln29fs) rs770562664 0.00001
NM_021828.5(HPSE2):c.1099-1G>A rs184270108 0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter) rs267606865 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter) rs569565392 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_021942.6(TRAPPC11):c.3193C>T (p.Arg1065Ter) rs750976634 0.00001
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) rs771861177 0.00001
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter) rs1365085828 0.00001
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) rs145535498 0.00001
NM_021971.4(GMPPB):c.402+1G>A rs145564018 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter) rs1057519293 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg) rs780393773 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936 0.00001
NM_022124.6(CDH23):c.4105-2A>T rs1416386069 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys) rs1264310782 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022336.4(EDAR):c.1124G>A (p.Arg375His) rs121908454 0.00001
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) rs1310296844 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) rs780424781 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) rs121908455 0.00001
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) rs1432041144 0.00001
NM_022361.5(POPDC3):c.464T>A (p.Leu155His) rs1311819000 0.00001
NM_022773.4(LMF1):c.1079-2A>C rs769211813 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys) rs961876891 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter) rs74876702 0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter) rs75326546 0.00001
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile) rs79310911 0.00001
NM_024570.4(RNASEH2B):c.510+1G>A rs77301371 0.00001
NM_024570.4(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383 0.00001
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) rs1316615934 0.00001
NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys) rs757808847 0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala) rs1441937959 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) rs755862917 0.00001
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1473+4A>G rs1486200900 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys) rs1856209517 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) rs372092113 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter) rs1951755742 0.00001
NM_024685.4(BBS10):c.340del (p.Gln114fs) rs1191479533 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter) rs1489728717 0.00001
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250 0.00001
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter) rs143038880 0.00001
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter) rs755341613 0.00001
NM_024989.4(PGAP1):c.1952+1G>C rs587777202 0.00001
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867 0.00001
NM_024989.4(PGAP1):c.927+1G>A rs750079325 0.00001
NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter) rs186530606 0.00001
NM_025009.5(CEP135):c.2863C>T (p.Arg955Ter) rs1730824213 0.00001
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter) rs1338479649 0.00001
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe) rs1399826348 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter) rs1732862637 0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) rs753263924 0.00001
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter) rs535527511 0.00001
NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter) rs372173451 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter) rs748696533 0.00001
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) rs1460031293 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.9316+2T>A rs1358085095 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter) rs1186821575 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.2343T>C (p.Asn781=) rs748034744 0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) rs762633090 0.00001
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter) rs903257336 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.307C>T (p.Gln103Ter) rs752144368 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3167C>A (p.Ser1056Ter) rs1267970567 0.00001
NM_025114.4(CEP290):c.3185del (p.Leu1062fs) rs863225189 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_025114.4(CEP290):c.3573+2T>C rs1219277452 0.00001
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944 0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter) rs1412133967 0.00001
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.4651C>T (p.Gln1551Ter) rs746305733 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.5163del (p.Thr1722fs) rs1565827171 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter) rs750073051 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter) rs1375836634 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) rs778907433 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) rs926405916 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter) rs778039192 0.00001
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu) rs893127185 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) rs764658964 0.00001
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter) rs1306584103 0.00001
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter) rs1156948793 0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) rs775380022 0.00001
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) rs377416834 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.932del (p.Glu311fs) rs1559416138 0.00001
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg) rs1487082103 0.00001
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr) rs387906918 0.00001
NM_031471.6(FERMT3):c.1275del (p.Glu426fs) rs775138431 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1946_1952del (p.Asp649fs) rs745951028 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.504del (p.Leu168fs) rs1224014742 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.717+1G>A rs1047075022 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_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter) rs1758506826 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032237.5(POMK):c.10C>T (p.Gln4Ter) rs202006335 0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter) rs774013796 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730 0.00001
NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu) rs1057519087 0.00001
NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu) rs1057517689 0.00001
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr) rs1559414655 0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn) rs768063378 0.00001
NM_032808.7(LINGO1):c.863A>G (p.Tyr288Cys) rs750612085 0.00001
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys) rs767873726 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter) rs1338469029 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.2T>C (p.Met1Thr) rs1302879683 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.218+1G>A rs772298089 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.1964+1G>T rs1385712943 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs) rs767737392 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter) rs1350620976 0.00001
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr) rs375437755 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter) rs1436814142 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8554+1G>A rs1790925351 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.8642+1G>A rs1485161784 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys) rs957419550 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.624+1G>A rs587777808 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) rs200656442 0.00001
NM_144772.3(NAXE):c.516+1G>A rs139093330 0.00001
NM_144991.3(TSPEAR):c.1728del (p.Lys577fs) rs782540538 0.00001
NM_144992.5(VWA3B):c.1865A>C (p.Lys622Thr) rs876657414 0.00001
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp) rs758859772 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.707-2A>G rs1302074641 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_148919.4(PSMB8):c.421C>T (p.Arg141Ter) rs374929612 0.00001
NM_152384.3(BBS5):c.209-1G>A rs1172161975 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.24G>A (p.Trp8Ter) rs373396081 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_152384.3(BBS5):c.2T>A (p.Met1Lys) rs767822498 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter) rs753074829 0.00001
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.664dup (p.Ala222fs) rs1800897309 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter) rs754448484 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NM_153240.5(NPHP3):c.1911G>A (p.Trp637Ter) rs919854764 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153240.5(NPHP3):c.1943dup (p.Ile649fs) rs746059113 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter) rs771742823 0.00001
NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys) rs758498695 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.375del (p.Ser125fs) rs756032457 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter) rs1290295453 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) rs1729663828 0.00001
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) rs753152908 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) rs774949132 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) rs374752679 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511 0.00001
NM_153717.3(EVC):c.773dup (p.Tyr258Ter) rs748201094 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) rs786205229 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_174878.3(CLRN1):c.433+1G>A rs201205811 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) rs119477055 0.00001
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter) rs374049779 0.00001
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter) rs766087213 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) rs762765702 0.00001
NM_178170.3(NEK8):c.1997dup (p.Tyr666Ter) rs1226393603 0.00001
NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr) rs587777638 0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) rs587777643 0.00001
NM_181741.4(ORC4):c.623C>G (p.Ser208Ter) rs535159793 0.00001
NM_181741.4(ORC4):c.870_873dup (p.Ala292fs) rs797044461 0.00001
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) rs762876554 0.00001
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter) rs606231292 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) rs1300885934 0.00001
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter) rs781655232 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter) rs780634258 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025 0.00001
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter) rs750266004 0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243 0.00001
NM_183065.4(TMEM107):c.*670dup rs775673578 0.00001
NM_183065.4(TMEM107):c.*675A>G rs750457525 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) rs397515435 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr) rs760176622 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
NM_198428.3(BBS9):c.1175del (p.Ile392fs) rs1815414782 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter) rs748601675 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter) rs781837529 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter) rs1823561323 0.00001
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) rs782107643 0.00001
NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter) rs1554691029 0.00001
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter) rs1279778532 0.00001
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) rs104894675 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256 0.00001
NM_206933.4(USH2A):c.11516del (p.Gln3839fs) rs1558078416 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-1G>A rs397517977 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter) rs1364987785 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) rs886039449 0.00001
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) rs727503736 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) rs769198746 0.00001
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9372-1G>A rs1558111861 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter) rs760858249 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_207361.6(FREM2):c.5920G>A (p.Glu1974Lys) rs121434355 0.00001
NM_213599.3(ANO5):c.1119+1G>T rs762946781 0.00001
NM_213599.3(ANO5):c.1120-1G>A rs561719071 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg) rs912174567 0.00001
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys) rs764261431 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter) rs762874007 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
15q15.3 deletion
2q13 deletion
2q13 deletion (290 kb)
9q21.11 duplication
A114N
A445E
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
ATP6V0A2, 1-BP INS, 100A
BBS2, CYS210FS, TER246
BBS5, 8-BP DEL/7-BP INS, NT263
CFTR, GLN524HIS
CLCN1, TRP433ARG
DNMT3B, 1-BP INS, CODON 53
DNMT3B, EX21-22DEL
DNMT3B, LEU656THR
GHR, EX4,6DEL
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160
GRCh37/hg19 13q12.11(chr13:20803674-21030220)
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
GRCh37/hg19 17q22(chr17:57119174-57128690)
GRCh37/hg19 1q41(chr1:216138660-216270555)
GRCh37/hg19 1q42.13(chr1:227149087-227149264)
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
GRCh37/hg19 2q13(chr2:110862477-110983703)
GRCh37/hg19 2q13(chr2:110875689-110967529)
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
GRCh37/hg19 4p14(chr4:39215680-39219295)
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521)
GRCh37/hg19 8q24.3(chr8:140852548-140953922)
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
GRCh38/hg38 2q13(chr2:110091573-110205023)
GRCh38/hg38 2q13(chr2:110091573-110212811)
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
GRIK2, DEL/INV, EX7-11
HSPG2, EX60/61 FUSION
L76937.1:c.3711del rs1563385391
MARS2, DUP2
MTR, IVS6AS, G-A, LYS203
MTRR, 4-BP DEL, NT1675
MYO7A, IVS27AS, G-C, -1
Multiple alleles
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del
NC_000001.10:g.(?_10535024)_(10535079_?)del
NC_000001.10:g.(?_10535024)_(10596374_?)del
NC_000001.10:g.(?_10535024)_(10687440_?)del
NC_000001.10:g.(?_12008013)_(12008144_?)del
NC_000001.10:g.(?_12014867)_(12014970_?)del
NC_000001.10:g.(?_12020683)_(12027168_?)dup
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.10:g.(?_153963273)_(154580482_?)del
NC_000001.10:g.(?_154422067)_(154580482_?)del
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.10:g.(?_186265850)_(186266785_?)del
NC_000001.10:g.(?_218520044)_(220986760_?)del
NC_000001.10:g.(?_220330592)_(220335630_?)del
NC_000001.10:g.(?_2337195)_(2340307_?)del
NC_000001.10:g.(?_2339881)_(2340307_?)del
NC_000001.10:g.(?_2341800)_(2343951_?)del
NC_000001.10:g.(?_243303219)_(243456541_?)del
NC_000001.10:g.(?_243335979)_(243419562_?)del
NC_000001.10:g.(?_45793451)_(45798111_?)del
NC_000001.10:g.(?_45798384)_(45798589_?)del
NC_000001.10:g.(?_45805881)_(45809328_?)del
NC_000001.10:g.(?_46654381)_(46656466_?)del
NC_000001.10:g.(?_46655193)_(46661449_?)del
NC_000001.10:g.(?_46656382)_(46662766_?)del
NC_000001.10:g.(?_46662483)_(46671639_?)del
NC_000001.10:g.(?_46663448)_(46664153_?)del
NC_000001.10:g.(?_5933292)_(5940319_?)del
NC_000001.10:g.(?_5950908)_(5951108_?)del
NC_000001.10:g.(?_5964657)_(5969293_?)del
NC_000001.10:g.(?_68895449)_(68915598_?)del
NC_000001.10:g.(?_68910194)_(68912563_?)del
NC_000001.10:g.(?_68912383)_(68912553_?)del
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.10:g.216144119_216591855del447737
NC_000001.10:g.227150977_227195656del44680
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000001.11:g.(?_11949763)_(11952745_?)del
NC_000001.11:g.(?_16991714)_(16992601_?)del
NC_000001.11:g.(?_179882503)_(179904022_?)del
NC_000001.11:g.(?_216270461)_(216260162_?)del
NC_000001.11:g.(?_236795684)_(236897664_?)del
NC_000001.11:g.(?_2405746)_(2412522_?)del
NC_000001.11:g.(?_2405756)_(2412512_?)del
NC_000001.11:g.(?_242268256)_(243843190_?)del
NC_000001.11:g.(?_243415682)_(243415849_?)del
NC_000001.11:g.(?_45329296)_(45333334_?)del
NC_000001.11:g.(?_45329300)_(45333609_?)del
NC_000001.11:g.(?_45329306)_(45333324_?)del
NC_000001.11:g.(?_45329306)_(45333334_?)del
NC_000001.11:g.(?_45332568)_(45334517_?)del
NC_000001.11:g.(?_46190463)_(46190794_?)del
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NC_000001.11:g.(?_68438187)_(68484090_?)del
NC_000001.11:g.11963531GA[1]
NC_000001.11:g.236468231_236468234del
NC_000002.11:g.(?_108604612)_(109579739_?)del
NC_000002.11:g.(?_110879913)_(110963639_?)del
NC_000002.11:g.(?_110881368)_(110959091_?)del
NC_000002.11:g.(?_150438631)_(150438795_?)del
NC_000002.11:g.(?_150443583)_(150443611_?)del
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166744769)_(166747518_?)del
NC_000002.11:g.(?_170336064)_(170336142_?)del
NC_000002.11:g.(?_170349364)_(170350366_?)del
NC_000002.11:g.(?_170359585)_(170361092_?)del
NC_000002.11:g.(?_20153575)_(20153759_?)del
NC_000002.11:g.(?_20188906)_(20189063_?)del
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202501451)_(202633608_?)del
NC_000002.11:g.(?_202508062)_(202508123_?)del
NC_000002.11:g.(?_219646906)_(219647180_?)del
NC_000002.11:g.(?_219646906)_(219738567_?)del
NC_000002.11:g.(?_219674280)_(219679753_?)del
NC_000002.11:g.(?_219745708)_(219747155_?)del
NC_000002.11:g.(?_219745718)_(219757993_?)del
NC_000002.11:g.(?_47132602)_(47206066_?)del
NC_000002.11:g.(?_47168661)_(47238594_?)del
NC_000002.11:g.(?_47177482)_(47301062_?)del
NC_000002.11:g.(?_47202092)_(47206066_?)del
NC_000002.11:g.(?_63401785)_(63401987_?)del
NC_000002.11:g.(?_63486422)_(63815425_?)del
NC_000002.11:g.(?_63540363)_(63540466_?)del
NC_000002.11:g.(?_63605501)_(63605664_?)del
NC_000002.11:g.(?_63711718)_(63815425_?)del
NC_000002.11:g.(?_63815311)_(63815405_?)del
NC_000002.11:g.(?_73610049)_(73680031_?)del
NC_000002.11:g.(?_73612987)_(73786279_?)del
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73635740)_(73786279_?)del
NC_000002.11:g.(?_73646231)_(73659439_?)del
NC_000002.11:g.(?_73651548)_(73659429_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73675070)_(73682442_?)del
NC_000002.11:g.(?_73716751)_(73718635_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)del
NC_000002.11:g.(?_73716751)_(73786279_?)del
NC_000002.11:g.(?_73746892)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73746892)_(73777574_?)del
NC_000002.11:g.(?_73746892)_(73800561_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.11:g.(?_73799379)_(73800561_?)del
NC_000002.12:g.(?_108894471)_(108989220_?)del
NC_000002.12:g.(?_110091603)_(110204968_?)del
NC_000002.12:g.(?_110123771)_(110204988_?)del
NC_000002.12:g.(?_110123791)_(110201494_?)del
NC_000002.12:g.(?_110123791)_(110204968_?)del
NC_000002.12:g.(?_110144493)_(110150256_?)del
NC_000002.12:g.(?_110163048)_(110204968_?)del
NC_000002.12:g.(?_135052292)_(135176396_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000002.12:g.(?_169492874)_(169493836_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000002.12:g.(?_218809567)_(218809777_?)del
NC_000002.12:g.(?_218880976)_(218893291_?)del
NC_000002.12:g.(?_63378386)_(63404657_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NC_000002.12:g.110069919_110205214del
NC_000002.12:g.110131796_110131797insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGCAGTAGACTATT
NC_000002.12:g.165943342del
NC_000002.12:g.169477282_169483199del
NC_000002.12:g.218812223dup
NC_000002.12:g.60947640_61094952del
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
NC_000003.11:g.(?_121459590)_(121547499_?)del
NC_000003.11:g.(?_121526171)_(121527876_?)del
NC_000003.11:g.(?_121547297)_(121547807_?)del
NC_000003.11:g.(?_129159174)_(129214470_?)del
NC_000003.11:g.(?_132379382)_(133191429_?)del
NC_000003.11:g.(?_132410016)_(132411682_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.11:g.(?_97194196)_(97510809_?)del
NC_000003.11:g.(?_97486952)_(97516893_?)del
NC_000003.11:g.(?_97498983)_(97516893_?)del
NC_000003.12:g.(?_121772557)_(121781874_?)del
NC_000003.12:g.(?_132681890)_(132684814_?)del
NC_000003.12:g.(?_49121216)_(49533209_?)del
NC_000003.12:g.(?_97768108)_(97768230_?)del
NC_000004.11:g.(93511438_94006145)_(94032105_94128554)del
NC_000004.11:g.(?_17488754)_(17513677_?)del
NC_000004.11:g.(?_17510874)_(17513677_?)del
NC_000004.11:g.(?_184585021)_(184585244_?)del
NC_000004.11:g.(?_184622830)_(184633797_?)del
NC_000004.11:g.(?_2200251)_(5710240_?)del
NC_000004.11:g.(?_39184178)_(39184203_?)del
NC_000004.11:g.(?_39216201)_(39218880_?)del
NC_000004.11:g.(?_39218734)_(39219745_?)del
NC_000004.11:g.(?_39257448)_(39257600_?)del
NC_000004.11:g.(?_52890123)_(52904425_?)del
NC_000004.11:g.(?_52894124)_(52896039_?)del
NC_000004.11:g.(?_52899577)_(52899826_?)del
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.11:g.(?_5711924)_(5817031_?)del
NC_000004.11:g.(?_5749725)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5758099_?)del
NC_000004.11:g.(?_5754553)_(5785501_?)del
NC_000004.11:g.(?_5785269)_(5812774_?)del
NC_000004.11:g.(?_5798739)_(5798969_?)del
NC_000004.11:g.(?_5803667)_(5806578_?)del
NC_000004.11:g.(?_5809918)_(5811348_?)del
NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]
NC_000004.12:g.(99601399_99613000)del
NC_000004.12:g.(?_122741883)_(122744035_?)del
NC_000004.12:g.(?_183663858)_(183712654_?)del
NC_000004.12:g.(?_52023947)_(52038269_?)del
NC_000004.12:g.(?_52033421)_(52033650_?)del
NC_000004.12:g.(?_52038207)_(52038279_?)del
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n]
NC_000004.12:g.39348425AAGGG[(400_2000)]
NC_000004.12:g.39348425AARRG[(400_2000)]
NC_000004.12:g.39348425_39348479delinsAAAGG[400_2000]
NC_000004.12:g.5719249_5719252del
NC_000004.12:g.5729307del
NC_000004.12:g.78268671_78298757del
NC_000004.12:g.8398067_17505522inv
NC_000004.12:g.92491792_92826931del
NC_000004.12:g.92559959_92610106del
NC_000004.12:g.93013415_93157863del
NC_000005.10:g.(?_141516831)_(141618934_?)del
NC_000005.10:g.(?_156329567)_(156344687_?)del
NC_000005.10:g.(?_156757561)_(156759410_?)del
NC_000005.10:g.(?_7869114)_(7900078_?)del
NC_000005.10:g.(?_7877934)_(7878332_?)del
NC_000005.10:g.55247753A>G rs1579734448
NC_000005.10:g.90118339_90119245del
NC_000005.9:g.(?_118827775)_(118837807_?)del
NC_000005.9:g.(?_118837726)_(118837797_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147470708)_(147470811_?)del
NC_000005.9:g.(?_155338082)_(156186411_?)del
NC_000005.9:g.(?_155756587)_(156074566_?)del
NC_000005.9:g.(?_155756587)_(156184735_?)del
NC_000005.9:g.(?_155935601)_(156074556_?)del
NC_000005.9:g.(?_156074454)_(156074566_?)del
NC_000005.9:g.(?_156184572)_(156184735_?)del
NC_000005.9:g.(?_7870908)_(7871056_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)del
NC_000005.9:g.(?_7875361)_(7875498_?)del
NC_000005.9:g.60164820_60244992del
NC_000006.11:g.(?_137143759)_(137143943_?)del
NC_000006.11:g.(?_137143759)_(137166840_?)del
NC_000006.11:g.(?_137143759)_(137167329_?)del
NC_000006.11:g.(?_137166743)_(137167329_?)del
NC_000006.11:g.(?_137167201)_(137234674_?)del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NC_000006.11:g.(?_152485278)_(152485480_?)del
NC_000006.11:g.(?_41126341)_(43752536_?)del
NC_000006.11:g.(?_42941721)_(42942796_?)del
NC_000006.11:g.(?_42942593)_(42946888_?)del
NC_000006.11:g.(?_51483869)_(51949741_?)del
NC_000006.11:g.(?_51483879)_(51949731_?)del
NC_000006.11:g.(?_51523740)_(51524777_?)del
NC_000006.11:g.(?_51586774)_(51752053_?)del
NC_000006.11:g.(?_51611509)_(51611697_?)del
NC_000006.11:g.(?_51612575)_(51618161_?)del
NC_000006.11:g.(?_51612985)_(51637140_?)del
NC_000006.11:g.(?_51637490)_(51637597_?)del
NC_000006.11:g.(?_51637490)_(51640729_?)del
NC_000006.11:g.(?_51695649)_(51720878_?)del
NC_000006.11:g.(?_51701182)_(51701287_?)del
NC_000006.11:g.(?_51701192)_(51701277_?)del
NC_000006.11:g.(?_51732651)_(51752053_?)del
NC_000006.11:g.(?_51747238)_(51752053_?)del
NC_000006.11:g.(?_51924716)_(51924850_?)del
NC_000006.11:g.(?_51936903)_(51938349_?)del
NC_000006.11:g.(?_51949670)_(51949741_?)del
NC_000006.12:g.(?_152122416)_(153426916_?)del
NC_000006.12:g.(?_42968280)_(42979253_?)del
NC_000006.12:g.(?_42974865)_(42975048_?)del
NC_000006.12:g.(?_51632545)_(51648138_?)del
NC_000006.12:g.(?_51959860)_(52010469_?)del
NC_000006.12:g.(?_52053066)_(52054175_?)del
NC_000006.12:g.(?_52055567)_(52055749_?)del
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
NC_000006.12:g.52082543del
NC_000007.13:g.(107303881_107312582)_(107315555_107323646)del
NC_000007.13:g.(117120202_117144306)_(117144418_117149087)del
NC_000007.13:g.(117120202_117144306)_(117149197_117170952)del
NC_000007.13:g.(117120202_117144306)_(117188878_117199517)del
NC_000007.13:g.(117149197_117170952)_(117180401_117182069)del
NC_000007.13:g.(117149197_117170952)_(117199710_117227792)del
NC_000007.13:g.(117175466_117176601)_(117199710_117227792)dup
NC_000007.13:g.(117199710_117227792)_(117227888_117230406)del
NC_000007.13:g.(117199710_117227792)_(117254768_117267575)del
NC_000007.13:g.(117243837_117246727)_(117254768_117267575)dup
NC_000007.13:g.(117246808_117250572)_(117251863_117254666)del
NC_000007.13:g.(117292986_117304741)_(117305619_117306961)del
NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
NC_000007.13:g.(92123944_92126026)_(92126092_92129017)del
NC_000007.13:g.(?_117120078)_(117308720_?)del
NC_000007.13:g.(?_117120136)_(117199729_?)del
NC_000007.13:g.(?_117120137)_(117173634_?)del
NC_000007.13:g.(?_117170943)_(117182242_?)del
NC_000007.13:g.(?_117174320)_(117176752_?)del
NC_000007.13:g.(?_117176588)_(117176752_?)del
NC_000007.13:g.(?_117218381)_(117254777_?)del
NC_000007.13:g.(?_117227774)_(117227921_?)del
NC_000007.13:g.(?_117246713)_(117251872_?)del
NC_000007.13:g.(?_117254648)_(117254777_?)del
NC_000007.13:g.(?_117266272)_(117292995_?)del
NC_000007.13:g.(?_117304664)_(117306195_?)del
NC_000007.13:g.(?_117304722)_(117305638_?)del
NC_000007.13:g.(?_143013209)_(143049107_?)del
NC_000007.13:g.(?_143013350)_(143018251_?)del
NC_000007.13:g.(?_143027845)_(143028765_?)del
NC_000007.13:g.(?_143039002)_(143044062_?)del
NC_000007.13:g.(?_143042594)_(143044062_?)del
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.13:g.(?_33054342)_(33185996_?)del
NC_000007.13:g.(?_33136085)_(33192483_?)del
NC_000007.13:g.(?_33185855)_(33195324_?)del
NC_000007.13:g.(?_33296828)_(33313588_?)del
NC_000007.13:g.(?_33296828)_(33427776_?)del
NC_000007.13:g.(?_33376033)_(33427776_?)del
NC_000007.13:g.(?_33388660)_(33388802_?)del
NC_000007.13:g.(?_33388660)_(33397627_?)del
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NC_000007.13:g.(?_92116761)_(92136450_?)del
NC_000007.13:g.(?_92135552)_(92140371_?)del
NC_000007.13:g.(?_92135668)_(92140738_?)del
NC_000007.13:g.(?_92143152)_(92143291_?)del
NC_000007.13:g.(?_92148299)_(92157759_?)del
NC_000007.13:g.117243773_117243774insLINE
NC_000007.14:g.(117606754_117610518)_(117614714_117627521)del
NC_000007.14:g.(?_117478787)_(117480271_?)del
NC_000007.14:g.(?_117504233)_(117504391_?)del
NC_000007.14:g.(?_117504240)_(117509152_?)del
NC_000007.14:g.(?_117504240)_(117531201_?)del
NC_000007.14:g.(?_117504243)_(117509152_?)del
NC_000007.14:g.(?_117504253)_(117509142_?)del
NC_000007.14:g.(?_117530879)_(117535431_?)del
NC_000007.14:g.(?_117530879)_(117559675_?)del
NC_000007.14:g.(?_117530893)_(117559661_?)del
NC_000007.14:g.(?_117587719)_(117587867_?)del
NC_000007.14:g.(?_117587720)_(117614723_?)del
NC_000007.14:g.(?_117602729)_(117611828_?)del
NC_000007.14:g.(?_117602793)_(117611818_?)del
NC_000007.14:g.(?_117606659)_(117606786_?)del
NC_000007.14:g.(?_117606659)_(117614723_?)dup
NC_000007.14:g.(?_117610509)_(117611818_?)del
NC_000007.14:g.(?_117610509)_(117614723_?)del
NC_000007.14:g.(?_117614593)_(117614733_?)del
NC_000007.14:g.(?_117614603)_(117614764_?)del
NC_000007.14:g.(?_117664660)_(117665584_?)del
NC_000007.14:g.(?_117664678)_(117665574_?)del
NC_000007.14:g.(?_117664682)_(117665570_?)del
NC_000007.14:g.(?_143324401)_(143331662_?)del
NC_000007.14:g.(?_143345501)_(143350674_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NC_000007.14:g.(?_92489273)_(92491522_?)del
NC_000007.14:g.(?_92509319)_(92509421_?)del
NC_000007.14:g.117530899del
NC_000007.14:g.117660798_117670251delinsTAACT
NC_000007.14:g.117664688_117667108del
NC_000007.14:g.66971410_66990307del
NC_000007.14:g.92528411_92528711del rs2116299216
NC_000008.10:g.(30958472_30969130)_(30982517_30989880)del
NC_000008.10:g.(6060654_6061169)_(6310738_6317266)del
NC_000008.10:g.(?_144295143)_(145701139_?)del
NC_000008.10:g.(?_145047551)_(145049537_?)del
NC_000008.10:g.(?_30915958)_(31030624_?)del
NC_000008.10:g.(?_30915964)_(30916791_?)del
NC_000008.10:g.(?_30915964)_(31030618_?)del
NC_000008.10:g.(?_30916659)_(30916791_?)del
NC_000008.10:g.(?_30921795)_(30925853_?)del
NC_000008.10:g.(?_30925764)_(30925853_?)del
NC_000008.10:g.(?_30941205)_(30969325_?)del
NC_000008.10:g.(?_30958355)_(30958481_?)del
NC_000008.10:g.(?_30958355)_(30982526_?)del
NC_000008.10:g.(?_30989871)_(30990032_?)del
NC_000008.10:g.(?_30998936)_(31015056_?)del
NC_000008.10:g.(?_31001056)_(31001149_?)del
NC_000008.10:g.(?_31001056)_(31030618_?)del
NC_000008.10:g.(?_31007847)_(31015056_?)del
NC_000008.10:g.(?_31014911)_31015491del
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
NC_000008.10:g.(?_67976634)_(68658364_?)del
NC_000008.10:g.(?_67998222)_(67998365_?)del
NC_000008.10:g.(?_68044166)_(68044335_?)del
NC_000008.10:g.(?_75262697)_(75276602_?)del
NC_000008.10:g.(?_77892493)_(77912525_?)del
NC_000008.10:g.(?_77895497)_(77896414_?)del
NC_000008.10:g.(?_90955471)_(90976745_?)del
NC_000008.10:g.(?_90958358)_(90960130_?)del
NC_000008.10:g.(?_90960042)_(90976745_?)del
NC_000008.10:g.(?_90982582)_(90990561_?)del
NC_000008.10:g.(?_90990438)_(90990561_?)del
NC_000008.10:g.(?_90996743)_(90996789_?)del
NC_000008.11:g.(?_143213218)_(143217170_?)del
NC_000008.11:g.(?_31058438)_(31059275_?)del
NC_000008.11:g.(?_31058448)_(31111809_?)del
NC_000008.11:g.(?_31059147)_(31059271_?)del
NC_000008.11:g.(?_31076163)_(31076297_?)del
NC_000008.11:g.(?_31108591)_(31125010_?)del
NC_000008.11:g.(?_31150341)_(31157530_?)del
NC_000008.11:g.(?_43103539)_(43103840_?)del
NC_000008.11:g.(?_89921080)_(89984561_?)del
NC_000008.11:g.(?_89935572)_(89984571_?)del
NC_000008.11:g.(?_89935576)_(89981529_?)del
NC_000008.11:g.(?_89935582)_(89984561_?)del
NC_000008.11:g.(?_89978210)_(89984571_?)del
NC_000008.11:g.(?_89980724)_(89984571_?)del
NC_000008.11:g.(?_89980734)_(89984671_?)del
NC_000008.11:g.89955556del rs2129722387
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NC_000009.11:g.(119449661_119459940)_(119463580_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)del
NC_000009.11:g.(?_103008898)_(103009069_?)del
NC_000009.11:g.(?_103014545)_(103015438_?)del
NC_000009.11:g.(?_103027084)_(103035378_?)del
NC_000009.11:g.(?_119380583)_(119495822_?)del
NC_000009.11:g.(?_119449580)_(119463580_?)del
NC_000009.11:g.(?_119460155)_(119508439_?)del
NC_000009.11:g.(?_119461613)_(119523251_?)del
NC_000009.11:g.(?_135201691)_(135210134_?)del
NC_000009.11:g.(?_139089171)_(141016451_?)del
NC_000009.11:g.(?_139981452)_(139983477_?)del
NC_000009.11:g.71705804_71974823invdup
NC_000009.12:g.(?_100104498)_(100104627_?)del
NC_000009.12:g.(?_100126363)_(100126569_?)del
NC_000009.12:g.(?_116618324)_(116805820_?)del
NC_000009.12:g.(?_116697723)_(116699724_?)del
NC_000009.12:g.(?_116697733)_(116699714_?)del
NC_000009.12:g.(?_116697743)_(116699704_?)del
NC_000009.12:g.(?_116697743)_(116820783_?)del
NC_000009.12:g.35658021GTCCTCAGCTTC[3] rs1554651400
NC_000009.12:g.69090066_69225446dup
NC_000010.10:g.(55839185_55849743)_(55892768_55912859)del
NC_000010.10:g.(?_49383876)_(52383915_?)del
NC_000010.11:g.68247368_68253890del
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.10:g.(?_112226434)_(112226536_?)del
NC_000011.10:g.(?_112226444)_(112233555_?)del
NC_000011.10:g.(?_22193483)_(22226062_?)del
NC_000011.10:g.(?_65871960)_(65872944_?)del
NC_000011.10:g.(?_66510640)_(66523902_?)del
NC_000011.10:g.(?_66510650)_(66511249_?)del
NC_000011.10:g.(?_66510650)_(66524211_?)del
NC_000011.10:g.(?_66519607)_(66521386_?)del
NC_000011.10:g.(?_66523446)_(66524211_?)del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NC_000011.10:g.6390221_6390884del
NC_000011.10:g.66515694del
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_108005849)_(108005989_?)del
NC_000011.9:g.(?_108006357)_(108009701_?)del
NC_000011.9:g.(?_108009615)_(108018127_?)del
NC_000011.9:g.(?_108010782)_(108012437_?)del
NC_000011.9:g.(?_108016909)_(108017106_?)del
NC_000011.9:g.(?_112096088)_(112105696_?)del
NC_000011.9:g.(?_112097157)_(112104288_?)del
NC_000011.9:g.(?_112103876)_(112104288_?)del
NC_000011.9:g.(?_116660844)_(117870356_?)del
NC_000011.9:g.(?_2181023)_(2193087_?)del
NC_000011.9:g.(?_2186878)_(2193016_?)del
NC_000011.9:g.(?_2187222)_(2188272_?)del
NC_000011.9:g.(?_2187460)_(2191953_?)del
NC_000011.9:g.(?_2191910)_(2193087_?)del
NC_000011.9:g.(?_22215039)_(22225416_?)del
NC_000011.9:g.(?_22215039)_(22247618_?)del
NC_000011.9:g.(?_22225330)_(22225416_?)del
NC_000011.9:g.(?_22242623)_(22277088_?)del
NC_000011.9:g.(?_22242623)_(22301311_?)del
NC_000011.9:g.(?_22242633)_(22242766_?)del
NC_000011.9:g.(?_22261095)_(22261250_?)del
NC_000011.9:g.(?_22261105)_(22301321_?)del
NC_000011.9:g.(?_22276907)_(22301321_?)del
NC_000011.9:g.(?_22281045)_(22281307_?)del
NC_000011.9:g.(?_45827353)_(46401497_?)del
NC_000011.9:g.(?_45827353)_(47804770_?)del
NC_000011.9:g.(?_61133497)_(61133708_?)del
NC_000011.9:g.(?_6404342)_(6413015_?)del
NC_000011.9:g.(?_64522783)_(66283694_?)del
NC_000011.9:g.(?_66278111)_(66299528_?)del
NC_000011.9:g.(?_66278131)_(66283424_?)del
NC_000011.9:g.(?_66283001)_(66287229_?)del
NC_000011.9:g.(?_66283154)_(66287229_?)del
NC_000011.9:g.(?_66287078)_(66291105_?)del
NC_000011.9:g.(?_66288721)_(66293683_?)del
NC_000011.9:g.(?_66290917)_(66291363_?)del
NC_000011.9:g.(?_66291682)_(66293673_?)del
NC_000011.9:g.(?_66293041)_(66297307_?)del
NC_000011.9:g.(?_66293574)_(66299508_?)del
NC_000011.9:g.(?_66296758)_(66307295_?)del
NC_000011.9:g.(?_68671411)_(68707209_?)del
NC_000011.9:g.(?_68671421)_(68679091_?)del
NC_000011.9:g.(?_68673517)_(68682511_?)del
NC_000011.9:g.(?_68682271)_(68682511_?)del
NC_000011.9:g.(?_88045475)_(88071056_?)del
NC_000012.11:g.(?_103246573)_(103271348_?)del
NC_000012.11:g.(?_103248268)_(103249067_?)del
NC_000012.11:g.(?_103248776)_(103260427_?)del
NC_000012.11:g.(?_103248894)_(103249130_?)del
NC_000012.11:g.(?_88442961)_(88452817_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)del
NC_000012.11:g.(?_88452605)_(88494960_?)del
NC_000012.11:g.(?_88452615)_(88453807_?)del
NC_000012.11:g.(?_88465051)_(88465723_?)del
NC_000012.11:g.(?_88470989)_(88473016_?)del
NC_000012.11:g.(?_88479796)_(88514963_?)del
NC_000012.11:g.(?_88494960)_(88512540_?)dup
NC_000012.11:g.(?_88510800)_(88510932_?)del
NC_000012.11:g.(?_88512250)_(88519156_?)del
NC_000012.11:g.(?_94794606)_(94806266_?)del
NC_000012.12:g.(?_102854491)_(102855289_?)del
NC_000012.12:g.(?_102855126)_(102855342_?)del
NC_000012.12:g.(?_102866576)_(102866683_?)del
NC_000012.12:g.(?_102866586)_(102866673_?)del
NC_000012.12:g.(?_102894725)_(102894931_?)del
NC_000012.12:g.(?_102917061)_(102917140_?)del
NC_000012.12:g.(?_76345803)_(76348368_?)del
NC_000012.12:g.(?_8456112)_(8612767_?)del
NC_000012.12:g.(?_8604264)_(8612787_?)del
NC_000012.12:g.(?_87983103)_(88507137_?)del
NC_000012.12:g.53306793_53321761del
NC_000013.10:g.(23869627_23894775)_(23894900_23898506)del
NC_000013.10:g.(?_20797176)_21105944del
NC_000013.10:g.(?_23755215)_(23853627_?)del
NC_000013.10:g.(?_23808730)_(23808871_?)del
NC_000013.10:g.(?_23824749)_(23853637_?)del
NC_000013.10:g.(?_23898487)_(24463459_?)del
NC_000013.10:g.(?_23898497)_(23898690_?)del
NC_000013.10:g.(?_51484213)_(51484296_?)del
NC_000013.10:g.(?_51501523)_(51530610_?)del
NC_000013.11:g.(?_23093196)_(23203899_?)del
NC_000013.11:g.(?_23093196)_(23411249_?)del
NC_000013.11:g.(?_23093196)_(23411259_?)del
NC_000013.11:g.(?_23203675)_(23279498_?)del
NC_000013.11:g.(?_23203685)_(23203899_?)del
NC_000013.11:g.(?_23320627)_(23320770_?)del
NC_000013.11:g.110615008_110622534del
NC_000013.11:g.20222821_20531941del
NC_000013.11:g.20365207_20496559del
NC_000013.11:g.60163939G>A rs2138511749
NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT
NC_000013.11:g.94252984_94352299del99316insCTA
NC_000014.8:g.(?_58711639)_(59014694_?)del
NC_000014.8:g.(?_58926541)_(58927898_?)del
NC_000014.8:g.(?_58938897)_(58941535_?)del
NC_000014.8:g.(?_58975253)_(58975447_?)del
NC_000014.8:g.(?_74946967)_(74947492_?)del
NC_000014.8:g.(?_74951108)_(74953149_?)del
NC_000014.8:g.(?_74959886)_(74959987_?)del
NC_000014.8:g.(?_77755085)_(77762636_?)del
NC_000014.8:g.(?_89319295)_(89319420_?)del
NC_000014.8:g.(?_97299809)_(97327092_?)del
NC_000014.8:g.(?_97319158)_(97322933_?)del
NC_000014.8:g.(?_97326874)_(97327092_?)del
NC_000014.9:g.(?_58443934)_(58450766_?)del
NC_000014.9:g.(?_74480264)_(74493284_?)del
NC_000014.9:g.(?_96810669)_(96860745_?)del
NC_000014.9:g.(?_96846075)_(96847364_?)del
NC_000014.9:g.(?_96846085)_(96847354_?)del
NC_000014.9:g.(?_96856120)_(96860745_?)del
NC_000015.10:g.(?_42359500)_(42412317_?)del
NC_000015.10:g.(?_42359796)_(42360124_?)del
NC_000015.10:g.(?_42359796)_(42399662_?)del
NC_000015.10:g.(?_42359796)_(42411783_?)del
NC_000015.10:g.(?_42384473)_(42390106_?)del
NC_000015.10:g.(?_42384473)_(42392732_?)del
NC_000015.10:g.(?_42384473)_(42394351_?)del
NC_000015.10:g.(?_42389933)_(42411793_?)del
NC_000015.10:g.(?_42394246)_(42394351_?)del
NC_000015.10:g.(?_42396790)_(42404849_?)del
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NC_000015.10:g.(?_43890333)_(43893072_?)del
NC_000015.10:g.(?_43890333)_(43897714_?)del
NC_000015.10:g.(?_43890333)_(43940887_?)del
NC_000015.10:g.(?_72686218)_(72686261_?)del
NC_000015.10:g.(?_72709680)_(72712327_?)del
NC_000015.10:g.(?_72715271)_(72716870_?)del
NC_000015.10:g.(?_90747383)_(90751956_?)del
NC_000015.10:g.(?_90747393)_(90815279_?)del
NC_000015.10:g.(?_90749357)_(90765424_?)del
NC_000015.10:g.(?_90754801)_(90754948_?)del
NC_000015.10:g.(?_90769123)_(90769596_?)del
NC_000015.10:g.(?_90782812)_(90785091_?)del
NC_000015.10:g.(?_90790639)_(90790854_?)del
NC_000015.10:g.(?_90790643)_(90790850_?)del
NC_000015.10:g.(?_90811195)_(90811416_?)del
NC_000015.10:g.72708224_72722485del
NC_000015.9:g.(43851199_43890333)_(43897676_43924279)del
NC_000015.9:g.(43851199_43890391)_(?_44038820)del
NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
NC_000015.9:g.(?_42650583)_(42687745_?)del
NC_000015.9:g.(?_42651697)_(42704516_?)del
NC_000015.9:g.(?_42651994)_(42695985_?)del
NC_000015.9:g.(?_42652004)_(42703563_?)del
NC_000015.9:g.(?_42676661)_(42684940_?)del
NC_000015.9:g.(?_42676661)_(42686559_?)del
NC_000015.9:g.(?_42676671)_(42689085_?)del
NC_000015.9:g.(?_42686444)_(42697047_?)del
NC_000015.9:g.(?_42691680)_(42703981_?)del
NC_000015.9:g.(?_42694952)_(42698151_?)del
NC_000015.9:g.(?_42698114)_(42703981_?)del
NC_000015.9:g.(?_42701491)_(42703981_?)del
NC_000015.9:g.(?_42702616)_(42702874_?)del
NC_000015.9:g.(?_72978549)_(73029948_?)del
NC_000015.9:g.(?_72978569)_(73009211_?)del
NC_000015.9:g.(?_73004585)_(73004648_?)del
NC_000015.9:g.(?_73015115)_(73020355_?)del
NC_000015.9:g.(?_73015115)_(73024087_?)del
NC_000015.9:g.(?_91290613)_(91312826_?)del
NC_000015.9:g.(?_91290613)_(91354646_?)del
NC_000015.9:g.(?_91290623)_(91290730_?)del
NC_000015.9:g.(?_91290623)_(91298188_?)del
NC_000015.9:g.(?_91295007)_(91295186_?)del
NC_000015.9:g.(?_91326032)_(91326178_?)del
NC_000015.9:g.(?_91333859)_(91334094_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)del
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_15703134)_(16223472_?)del
NC_000016.10:g.(?_15788690)_(16185034_?)del
NC_000016.10:g.(?_21624041)_(21730798_?)del
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.10:g.(?_78099759)_(78099909_?)del
NC_000016.10:g.(?_78099759)_(78115174_?)del
NC_000016.10:g.(?_78099759)_(78432772_?)del
NC_000016.10:g.(?_78164163)_(78164309_?)del
NC_000016.10:g.(?_78278583)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78432772_?)del
NC_000016.10:g.(?_78424850)_(78425075_?)del
NC_000016.10:g.(?_78424850)_(78432772_?)del
NC_000016.10:g.(?_79211588)_(79211816_?)del
NC_000016.8:g.(21419562_?)_(?_21746863)del
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NC_000016.9:g.(?_21623965)_(21730823_21968737)del
NC_000016.9:g.(?_21675288)_(21772051_?)del
NC_000016.9:g.(?_2546150)_(2550959_?)del
NC_000016.9:g.(?_56226148)_(58768132_?)del
NC_000016.9:g.(?_56518653)_(56545216_?)del
NC_000016.9:g.(?_56534756)_(56545206_?)del
NC_000016.9:g.(?_56544751)_(56545216_?)del
NC_000016.9:g.(?_56545061)_(56545206_?)del
NC_000016.9:g.(?_75490611)_(75576599_?)del
NC_000016.9:g.(?_75512539)_(75576601_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)del
NC_000016.9:g.(?_75573892)_(75579413_?)del
NC_000016.9:g.(?_75573892)_(75690509_?)del
NC_000016.9:g.(?_75589682)_(75590169_?)del
NC_000016.9:g.(?_78133671)_(78149061_?)del
NC_000016.9:g.(?_78133676)_(79633799_?)del
NC_000016.9:g.(?_78142310)_(78142394_?)del
NC_000016.9:g.(?_78148853)_(78149071_?)del
NC_000016.9:g.(?_78148853)_(78198206_?)del
NC_000016.9:g.(?_78352643)_(78420837_?)dup
NC_000016.9:g.(?_78420737)_(78458972_?)del
NC_000016.9:g.(?_78420747)_(78458962_?)del
NC_000016.9:g.(?_78420747)_(78466659_?)del
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
NC_000017.10:g.(?_3392509)_(3571820_?)del
NC_000017.10:g.(?_3392519)_(3564038_?)del
NC_000017.10:g.(?_3504346)_(3561464_?)del
NC_000017.10:g.(?_3539712)_(3543571_?)del
NC_000017.10:g.(?_3539712)_(3552235_?)del
NC_000017.10:g.(?_3543501)_(3543581_?)del
NC_000017.10:g.(?_3543501)_(3552245_?)del
NC_000017.10:g.(?_3550728)_(3550826_?)del
NC_000017.10:g.(?_3558272)_(3560109_?)del
NC_000017.10:g.(?_40371710)_(40371880_?)del
NC_000017.10:g.(?_42151508)_(42153411_?)del
NC_000017.10:g.(?_48243138)_(48245027_?)del
NC_000017.10:g.(?_48243138)_48245027del
NC_000017.10:g.(?_48243336)_(48246625_?)del
NC_000017.10:g.(?_48243336)_(48253303_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.11:g.(?_3636418)_(3656815_?)del
NC_000017.11:g.(?_3636418)_(3658185_?)del
NC_000017.11:g.(?_3636418)_(3658195_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NC_000017.11:g.(?_41771637)_(41771864_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NC_000017.11:g.35577561_35577592del rs2142231221
NC_000017.11:g.3600934_3658165del
NC_000017.11:g.3654998del
NC_000017.11:g.3659858del rs2142981161
NC_000017.11:g.3660238_3660245del
NC_000017.11:g.8017296_8022594del
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
NC_000018.10:g.23543572_23543573insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCACCAGTGTTATTTGATTTATGGAATTTTGAAACCTCTTCGGGGCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACGTTCATCTCTCTT
NC_000018.10:g.60033942_60033993del rs2144716942
NC_000018.9:g.(?_21166241)_(21166317_?)del
NC_000018.9:g.(?_43502287)_(43505888_?)del
NC_000018.9:g.(?_43547123)_(43547205_?)del
NC_000018.9:g.43547114_43604673del
NC_000019.10:g.(?_7112255)_(7249328_?)del
NC_000019.10:g.35905861_35911126del
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
NC_000020.10:g.(?_35521335)_(35580046_?)del
NC_000020.10:g.(?_35545115)_(35563602_?)del
NC_000020.10:g.(?_35555575)_(35559288_?)del
NC_000020.10:g.(?_35563412)_(35563612_?)del
NC_000020.10:g.(?_35563422)_(35563602_?)del
NC_000020.10:g.(?_35575121)_(35580046_?)del
NC_000020.10:g.(?_61987307)_(62329916_?)del
NC_000020.10:g.(?_62075992)_(62324656_?)del
NC_000020.10:g.(?_62290746)_(62290867_?)del
NC_000020.10:g.(?_62290746)_(62312082_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)del
NC_000020.10:g.(?_62298812)_(62303984_?)del
NC_000020.10:g.(?_62309478)_(62329916_?)del
NC_000020.10:g.(?_62309488)_(62312082_?)del
NC_000020.10:g.(?_62316856)_(62327211_?)del
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
NC_000020.11:g.(?_10405227)_(10413534_?)del
NC_000020.11:g.(?_36946728)_(36951653_?)del
NC_000020.11:g.(?_36951416)_(36951663_?)del
NC_000020.11:g.(?_36951426)_(36951653_?)del
NC_000020.11:g.(?_36951436)_(36951643_?)del
NC_000020.11:g.25387767_25393170del
NC_000020.11:g.36935169_36935190dup
NC_000021.8:g.(?_46309171)_(46310157_?)del
NC_000022.10:g.(?_18561143)_(18568044_?)del
NC_000022.10:g.(?_18561143)_(18613903_?)del
NC_000022.10:g.(?_41282297)_(41282539_?)del
NG_007083.1:g.371658_507674del
NG_007558.2:g.(60799_60814)_(77206_77221)del
NG_008340.2:g.(25377_66267)_(66353_129292)del
NG_008845.2:g.6725GAA[(200_900)]
NG_008852.1:g.[135909G>T;8170_32961del24792]
NG_009815.1:g.19647-?_28496+?dup
NG_011593.1:g.55397_56585delins59701_59837invGCCCA
NG_012741.1:g.(?_5001)_(37693_?)del
NG_016465.3:g.(37526_37529)_(58606_58609)del
NG_016465.4:g.13126_48866dup
NG_023416.2:g.(88604_176551)_(176714_576894)del
NG_032035.1:g.(5265_10701)_(10758_27654)del
NG_050967.1:g.291668_510915del
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
NM_000019.4(ACAT1):c.1006-1G>A rs1131691567
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) rs1591374544
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter) rs2134791556
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) rs2134791703
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs) rs2134791752
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) rs773491386
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs) rs1565298653
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) rs2077737059
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA
NM_000019.4(ACAT1):c.121-13T>A rs1591361903
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) rs1591375843
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
NM_000019.4(ACAT1):c.229del (p.Glu77fs) rs2077411287
NM_000019.4(ACAT1):c.233del (p.Lys78fs) rs2135334849
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.252del (p.Glu85fs) rs2135336077
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.272del (p.Met91fs)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter) rs2135336400
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
NM_000019.4(ACAT1):c.334+1G>A rs1591362533
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) rs1591363674
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000019.4(ACAT1):c.372dup (p.Val125fs)
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs) rs2135341631
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)
NM_000019.4(ACAT1):c.435+1G>A rs1591363834
NM_000019.4(ACAT1):c.446del (p.Val149fs) rs1591367375
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) rs1591367422
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.580-93_626del
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) rs761282960
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2134761257
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
NM_000019.4(ACAT1):c.730+1G>A rs1591368919
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.731-2A>G rs752216720
NM_000019.4(ACAT1):c.731-46_752del rs1591370141
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) rs1591370221
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter) rs2134768688
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter) rs2134768866
NM_000019.4(ACAT1):c.789del (p.Val264fs)
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) rs1591360326
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.826+2T>C rs2077590197
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000019.4(ACAT1):c.846dup (p.Ala283fs) rs2134772571
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) rs1591360348
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.941-9T>A rs980651269
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.105del (p.Phe36fs) rs2144493323
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs) rs2144493427
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu) rs2144494148
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
NM_000023.4(SGCA):c.225del (p.Trp75fs)
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter) rs1598265248
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) rs1567739339
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter) rs2144494297
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.250dup (p.His84fs)
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe) rs773161308
NM_000023.4(SGCA):c.26dup (p.Leu10fs) rs1904771410
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly) rs138945081
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro) rs137852621
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.317_318del (p.Thr106fs) rs1567739735
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.364C>G (p.Leu122Val) rs1567739857
NM_000023.4(SGCA):c.377dup (p.Asp126fs) rs1905070544
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.408del (p.Glu137fs) rs1905103030
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) rs397514451
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.488del (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.524T>C (p.Val175Ala) rs137852622
NM_000023.4(SGCA):c.585-2A>C rs1555568965
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
NM_000023.4(SGCA):c.658_659del (p.Ala220fs) rs1905167458
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter) rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.770del (p.Pro257fs) rs886043962
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000023.4(SGCA):c.801dup (p.Ile268fs) rs1905256830
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter) rs2144500924
NM_000023.4(SGCA):c.862del (p.Val288fs) rs2144501024
NM_000023.4(SGCA):c.86dup (p.His29fs) rs1904986620
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg) rs760989961
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.95T>C (p.Val32Ala) rs1017592342
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) rs2151157115
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1176dup (p.Leu393fs) rs1358266880
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) rs758132052
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
NM_000057.4(BLM):c.1220+3A>G rs1429490877
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer) rs1895946786
NM_000057.4(BLM):c.1255del (p.Ser419fs) rs1895946786
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter) rs749512704
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1346del (p.Ser449fs) rs2151158066
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.1361del (p.Asn454fs) rs2151158091
NM_000057.4(BLM):c.1374del (p.Ser460fs)
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1427del (p.Lys476fs)
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) rs1477193473
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter) rs2151158321
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1535dup (p.Asn515fs) rs2151158428
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) rs1596230118
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1565del (p.Gly522fs) rs1895965271
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter) rs367543038
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer) rs2151158659
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151158629
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter) rs2151158869
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.175_176del (p.Val59fs) rs2151146787
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1765del (p.Glu589fs)
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs) rs2151158979
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) rs2151159067
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) rs2151159180
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.1921del (p.His641fs)
NM_000057.4(BLM):c.1928del (p.Arg643fs) rs2151160567
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
NM_000057.4(BLM):c.1977del (p.His660fs)
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2078del (p.Gly693fs) rs1896091563
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter) rs753973474
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) rs1896092339
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
NM_000057.4(BLM):c.2131_2132del (p.Val711fs) rs2151162445
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs) rs2151162486
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter) rs2151162501
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs) rs2151163791
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2225del (p.Thr742fs)
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.227del (p.Pro76fs) rs1299272913
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs) rs2151163995
NM_000057.4(BLM):c.2284del (p.Leu762fs) rs2151164000
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter) rs2151164019
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.230dup (p.Pro78fs)
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2385del (p.Asp795fs) rs2151165798
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter) rs2151165848
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) rs1896235438
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2411del (p.Gly804fs) rs2151166065
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
NM_000057.4(BLM):c.2448del (p.Met816fs) rs1896237929
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
NM_000057.4(BLM):c.2456del (p.Gln819fs)
NM_000057.4(BLM):c.2493del (p.Thr832fs) rs2151166250
NM_000057.4(BLM):c.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.2579del (p.His860fs) rs2151178044
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter) rs1896651394
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2620del (p.Val874fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) rs1596250472
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) rs1456964727
NM_000057.4(BLM):c.2781del (p.Asp928fs)
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter) rs2151179928
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) rs1596252279
NM_000057.4(BLM):c.2818dup (p.Cys940fs) rs2151179952
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
NM_000057.4(BLM):c.2900del (p.Pro967fs) rs2151184555
NM_000057.4(BLM):c.2917del (p.Tyr973fs) rs2151184585
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
NM_000057.4(BLM):c.2957del (p.Ile986fs)
NM_000057.4(BLM):c.2980del (p.Thr994fs) rs1164844135
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs) rs2151184759
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.301_304del (p.Arg101fs) rs1489224386
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) rs1896974524
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
NM_000057.4(BLM):c.311C>A (p.Ser104Ter) rs367543030
NM_000057.4(BLM):c.3125del (p.Leu1042fs) rs1896976755
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter) rs1188753950
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) rs2151187381
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs) rs2151194158
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter) rs1897212605
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3558+1G>A rs148969222
NM_000057.4(BLM):c.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3587del (p.Ser1196fs) rs367543018
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
NM_000057.4(BLM):c.3616del (p.Ala1206fs) rs2151194859
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter) rs1897234496
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter) rs2151194897
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) rs367543020
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs) rs2151198261
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter) rs2151198266
NM_000057.4(BLM):c.375_376del (p.Pro126fs) rs1895612617
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs) rs2151198369
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs) rs2151198382
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) rs2151198391
NM_000057.4(BLM):c.3869del (p.Ser1290fs) rs2151198402
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.390del (p.Lys130fs) rs2151147261
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter) rs2151199939
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer) rs1895617043
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.487del (p.Ser163fs)
NM_000057.4(BLM):c.497C>G (p.Ser166Ter) rs896357448
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.522_523del (p.His176fs)
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.566del (p.Gly189fs) rs2151147614
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
NM_000057.4(BLM):c.582del (p.Phe194fs) rs367543026
NM_000057.4(BLM):c.583A>T (p.Lys195Ter) rs2151147654
NM_000057.4(BLM):c.589C>T (p.Gln197Ter) rs2151147666
NM_000057.4(BLM):c.604_607del (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.619del (p.Asp207fs) rs1596218981
NM_000057.4(BLM):c.623del (p.Leu208fs) rs2151147765
NM_000057.4(BLM):c.623dup (p.Leu208fs)
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.689G>A (p.Trp230Ter) rs2151147939
NM_000057.4(BLM):c.700_710del (p.Asp234fs) rs2151147969
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) rs1895534883
NM_000057.4(BLM):c.757del (p.Gln253fs) rs2151148137
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.760G>T (p.Glu254Ter) rs181892828
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
NM_000057.4(BLM):c.789dup (p.Asp264fs) rs2151148207
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
NM_000057.4(BLM):c.826del (p.Glu276fs) rs2151149553
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) rs1567036566
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer) rs2151145092
NM_000057.4(BLM):c.842del (p.His281fs) rs1895692863
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
NM_000057.4(BLM):c.919G>T (p.Glu307Ter) rs766386787
NM_000057.4(BLM):c.959+2T>C
NM_000057.4(BLM):c.97dup (p.Ser33fs)
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.982del (p.Ser328fs)
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4(BLM):c.993del (p.Glu332fs) rs2151152131
NM_000057.4(BLM):c.[1544dup;2468del]
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
NM_000057.4(BLM):c.[289C>T;649C>T]
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter) rs118203934
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter) rs1554709677
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)
NM_000067.3(CA2):c.621del (p.Trp208fs)
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
NM_000070.3(CAPN3):c.1002del (p.His334fs)
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)
NM_000070.3(CAPN3):c.100del (p.Ala34fs) rs2052593499
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs) rs2141176996
NM_000070.3(CAPN3):c.1029+1G>A rs2141177054
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1050del (p.Lys350_Val351insTer)
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.3(CAPN3):c.107del (p.Gly36fs)
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) rs267606703
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter) rs1595828703
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) rs1555421523
NM_000070.3(CAPN3):c.1120_1171del (p.Lys374fs)
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter) rs1555421524
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1194-2A>G rs2053804014
NM_000070.3(CAPN3):c.1207_1216del (p.Asp403fs)
NM_000070.3(CAPN3):c.1236_1288dup (p.Thr430fs)
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs) rs1293496023
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu) rs863224956
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1357dup (p.Thr453fs)
NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg) rs2141199370
NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)
NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)
NM_000070.3(CAPN3):c.1455del (p.Met485fs) rs2053876698
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter) rs2141199686
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1470del (p.Lys491fs)
NM_000070.3(CAPN3):c.1485del (p.Ala497fs) rs1595837172
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg) rs761637940
NM_000070.3(CAPN3):c.1507_1511del (p.Gly503fs)
NM_000070.3(CAPN3):c.1513_1519dup (p.Tyr507fs)
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs) rs2141199970
NM_000070.3(CAPN3):c.1524+1G>A rs1275289254
NM_000070.3(CAPN3):c.1524+1G>C
NM_000070.3(CAPN3):c.1524+1G>T rs1275289254
NM_000070.3(CAPN3):c.1536+1G>T
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter) rs2053910936
NM_000070.3(CAPN3):c.1576del (p.Leu526fs) rs1595838545
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs) rs2141202919
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter) rs752848213
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser) rs886044483
NM_000070.3(CAPN3):c.1712del (p.Leu571fs)
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs) rs2141203435
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.1782+1072G>C rs2053974373
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs) rs2141210355
NM_000070.3(CAPN3):c.1792_1795del (p.Lys598fs)
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1838del (p.Lys613fs) rs1555422832
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) rs1566983844
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs) rs2141216768
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
NM_000070.3(CAPN3):c.1933del (p.Asp645fs) rs1595845459
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)
NM_000070.3(CAPN3):c.193del (p.His65fs) rs2141102601
NM_000070.3(CAPN3):c.1963del (p.Arg655fs) rs1566984441
NM_000070.3(CAPN3):c.1974_1975insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCGGAACATTTTC (p.Lys659fs)
NM_000070.3(CAPN3):c.1977_1978delinsCT (p.Lys659_Gln660delinsAsnTer) rs2141219910
NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)
NM_000070.3(CAPN3):c.1985del (p.Ala662fs) rs2141219970
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)
NM_000070.3(CAPN3):c.1992+1G>A
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter) rs2141221307
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs) rs2141221357
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs) rs1555423021
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs) rs2054150380
NM_000070.3(CAPN3):c.2050+1G>A rs768374736
NM_000070.3(CAPN3):c.2050+1G>C rs768374736
NM_000070.3(CAPN3):c.2050+1del rs1555423027
NM_000070.3(CAPN3):c.2050+1dup rs2141221533
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs) rs1555423046
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs) rs1595846922
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His) rs886044427
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter) rs774048414
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter) rs2054179951
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.219del (p.Leu74fs) rs2141102673
NM_000070.3(CAPN3):c.2201_2202del (p.His733_Tyr734insTer) rs2054185246
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs) rs2141224217
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs) rs587780289
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=) rs148851444
NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)
NM_000070.3(CAPN3):c.2230del (p.Ser744fs) rs2054186817
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) rs768090444
NM_000070.3(CAPN3):c.2255dup (p.Asn752fs)
NM_000070.3(CAPN3):c.2263+1G>A rs886044475
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2301del (p.Met768fs) rs2141225604
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs) rs1457010016
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter) rs1447774727
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.2380+1G>A rs1555423222
NM_000070.3(CAPN3):c.2380+1G>T rs1555423222
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2440-2A>G rs769688710
NM_000070.3(CAPN3):c.245del (p.Pro82fs)
NM_000070.3(CAPN3):c.257del (p.Ser86fs)
NM_000070.3(CAPN3):c.261_262del (p.Phe88fs) rs763649825
NM_000070.3(CAPN3):c.264_265del (p.Phe88fs) rs2141102811
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter) rs1476836379
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) rs758058910
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter) rs1801505
NM_000070.3(CAPN3):c.321_330del (p.Glu107fs)
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs) rs1555420075
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.346del (p.Ala116fs)
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp) rs2053335268
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys) rs886043437
NM_000070.3(CAPN3):c.380-1G>A
NM_000070.3(CAPN3):c.380-2A>G
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)
NM_000070.3(CAPN3):c.382del rs2141160425
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter) rs2141160443
NM_000070.3(CAPN3):c.390del (p.Trp130fs)
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.412dup (p.Leu138fs) rs2141160513
NM_000070.3(CAPN3):c.427del (p.His143fs)
NM_000070.3(CAPN3):c.433del (p.Leu145fs) rs2141160577
NM_000070.3(CAPN3):c.444del (p.Ile149fs) rs2053401167
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.496del (p.Gln166fs)
NM_000070.3(CAPN3):c.498+1G>A rs2141160881
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter) rs1595821204
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter) rs1555420475
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter) rs2053442769
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.562del (p.Gln188fs) rs1566975090
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly) rs763719290
NM_000070.3(CAPN3):c.60del (p.Pro22fs) rs1566965857
NM_000070.3(CAPN3):c.616del (p.Glu206fs) rs2053446296
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000070.3(CAPN3):c.63del (p.Pro22fs)
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter) rs138846390
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter) rs776059672
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs) rs1555420642
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)
NM_000070.3(CAPN3):c.741_751del (p.Met248fs) rs1555420647
NM_000070.3(CAPN3):c.742_743del (p.Met248fs) rs1064793620
NM_000070.3(CAPN3):c.746dup (p.Tyr249Ter)
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter) rs2053484604
NM_000070.3(CAPN3):c.796del (p.Ile266fs) rs2053485642
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000070.3(CAPN3):c.801+2T>G
NM_000070.3(CAPN3):c.806del (p.Gly269fs) rs2053509916
NM_000070.3(CAPN3):c.817del (p.Thr273fs)
NM_000070.3(CAPN3):c.819del (p.Tyr274fs)
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr) rs1555420765
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs) rs398123150
NM_000070.3(CAPN3):c.871del (p.Met290_Val291insTer)
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter) rs2141170517
NM_000070.3(CAPN3):c.946-1G>A rs80338801
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000070.3(CAPN3):c.946-2A>G rs1595826673
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter) rs750443041
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg) rs1085307995
NM_000082.3:c.844_1122del
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000082.4(ERCC8):c.141del (p.Asn47fs) rs786205176
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe) rs1749617646
NM_000082.4(ERCC8):c.275+1G>A
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_000082.4(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) rs1580023012
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000082.4(ERCC8):c.78-2A>T rs748379243
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]
NM_000083.2(CLCN1):c.698delG rs1423567292
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1038_1039del (p.Glu347fs)
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1111del (p.Gln371fs)
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1269dup (p.Ile424fs) rs2116855121
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)
NM_000083.3(CLCN1):c.1280del (p.Leu427fs)
NM_000083.3(CLCN1):c.1281del (p.Leu427fs) rs2116855161
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) rs1802763171
NM_000083.3(CLCN1):c.1310_1311del (p.Ala437fs)
NM_000083.3(CLCN1):c.1347del (p.Val448_Trp449insTer)
NM_000083.3(CLCN1):c.1357del (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1401+1G>A rs769861892
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter)
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His) rs80356694
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1471+1G>T
NM_000083.3(CLCN1):c.1472-2A>G rs2116865174
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) rs121912807
NM_000083.3(CLCN1):c.1562_1563del (p.Pro521fs)
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1642G>T (p.Glu548Ter)
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) rs1563084597
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1657A>T (p.Ile553Phe)
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.174del (p.Thr59fs)
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) rs1586510870
NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs) rs2116373517
NM_000083.3(CLCN1):c.1849del (p.Ser617fs)
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) rs1237554305
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) rs2116374801
NM_000083.3(CLCN1):c.1918del (p.Val640fs) rs1554438574
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
NM_000083.3(CLCN1):c.198del (p.Glu67fs)
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter)
NM_000083.3(CLCN1):c.200_215del (p.Glu67fs) rs2116834548
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2045del (p.Ser682fs) rs2116384132
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)
NM_000083.3(CLCN1):c.209C>A (p.Ser70Ter)
NM_000083.3(CLCN1):c.2148dup (p.Glu717fs) rs2116384782
NM_000083.3(CLCN1):c.2149del (p.Glu717fs)
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000083.3(CLCN1):c.2172+1G>C
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) rs1554434400
NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) rs1803238026
NM_000083.3(CLCN1):c.2271_2272del (p.Pro758fs)
NM_000083.3(CLCN1):c.2285-1G>C rs1222525763
NM_000083.3(CLCN1):c.2343del (p.Thr782fs)
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter)
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2467C>T (p.Gln823Ter)
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile) rs755343536
NM_000083.3(CLCN1):c.2524del (p.Ser842fs)
NM_000083.3(CLCN1):c.2565del (p.Lys856fs)
NM_000083.3(CLCN1):c.2581del (p.Leu861fs) rs2116397821
NM_000083.3(CLCN1):c.2595+1G>A rs2116397860
NM_000083.3(CLCN1):c.2612del (p.Glu871fs)
NM_000083.3(CLCN1):c.2655dup (p.Ser886fs)
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter)
NM_000083.3(CLCN1):c.2683_2686del (p.Lys895fs)
NM_000083.3(CLCN1):c.2765_2766del (p.Val922fs) rs1563091175
NM_000083.3(CLCN1):c.2784_2785del (p.Glu928fs)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2821_2822del (p.Ser941fs)
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.302-1G>A rs529377088
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.354G>A (p.Gly118=)
NM_000083.3(CLCN1):c.360del (p.Leu121fs) rs2116836321
NM_000083.3(CLCN1):c.36del (p.Glu12fs)
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter)
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.431dup (p.Ala145fs)
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.434-55_464del
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) rs2116837535
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
NM_000083.3(CLCN1):c.450C>A (p.Tyr150Ter)
NM_000083.3(CLCN1):c.469del (p.Leu157fs) rs1554434794
NM_000083.3(CLCN1):c.475del (p.Leu159fs) rs1802428440
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) rs1586485406
NM_000083.3(CLCN1):c.50_434-202del
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.598G>A (p.Gly200Arg)
NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter) rs1563074540
NM_000083.3(CLCN1):c.61del (p.Gln21fs)
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
NM_000083.3(CLCN1):c.642del (p.Lys215fs)
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.751del (p.Ser251fs) rs1586487826
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) rs2116842799
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter)
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln) rs1266327660
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter) rs1586496726
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) rs1802702190
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) rs780150093
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter)
NM_000083.3(CLCN1):c.979+1G>A rs1563078827
NM_000083.3(CLCN1):c.979+1G>T rs1563078827
NM_000083.3(CLCN1):c.989dup (p.Ala331fs) rs1383055795
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter) rs138922145
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu)
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) rs2106151987
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2439del (p.Arg814fs) rs2106154439
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs) rs1559904445
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.345del (p.Pro116fs) rs749390823
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) rs2106235905
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter) rs2106271012
NM_000091.5(COL4A3):c.4318del (p.Thr1440fs) rs2106284079
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)
NM_000091.5(COL4A3):c.4929-388G>T rs1325453230
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys) rs2060086619
NM_000092.5(COL4A4):c.139del (p.Cys47fs)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs) rs1976337637
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg) rs1973758214
NM_000092.5(COL4A4):c.3214+1G>T rs747167770
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.5(COL4A4):c.3699_3706+1del
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) rs1963402519
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4508del (p.His1503fs) rs1963379793
NM_000092.5(COL4A4):c.4523-1G>A
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) rs1962628992
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) rs2149720690
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.558+1G>A rs2061393783
NM_000092.5(COL4A4):c.559-2A>C rs766243664
NM_000092.5(COL4A4):c.567_568del (p.Asp191fs)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg) rs2150793962
NM_000092.5:c.1205_1369del
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter) rs1882701423
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs) rs2140538834
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val) rs1590413260
NM_000124.4(ERCC6):c.22del (p.His8fs)
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs) rs758341467
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]
NM_000138.5:c.(1468+1_1469-1)_(1837+1_1838-1)del
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000144.5(FXN):c.157del (p.Arg53fs) rs141935559
NM_000144.5(FXN):c.165+1338AAG[180] rs193922938
NM_000144.5(FXN):c.317T>G (p.Leu106Ter) rs104894105
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) rs886037630
NM_000144.5(FXN):c.385-2A>G rs140987490
NM_000144.5(FXN):c.438C>G (p.Asn146Lys) rs146818694
NM_000144.5(FXN):c.460A>T (p.Ile154Phe) rs104894106
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000163.5(GHR):c.102G>A (p.Trp34Ter) rs121909370
NM_000163.5(GHR):c.1734del (p.Arg578fs)
NM_000163.5(GHR):c.181C>T (p.Arg61Ter) rs121909358
NM_000163.5(GHR):c.192_193del (p.Ser65fs) rs1194378231
NM_000163.5(GHR):c.266+1G>A rs1009412984
NM_000163.5(GHR):c.267-1155_333del
NM_000163.5(GHR):c.267-2A>G rs1757597156
NM_000163.5(GHR):c.281G>A (p.Trp94Ter) rs1060499692
NM_000163.5(GHR):c.303C>A (p.Cys101Ter) rs121909371
NM_000163.5(GHR):c.335G>C (p.Cys112Ser) rs121909372
NM_000163.5(GHR):c.341T>C (p.Phe114Ser) rs121909357
NM_000163.5(GHR):c.364T>C (p.Trp122Arg) rs190314158
NM_000163.5(GHR):c.512T>C (p.Ile171Thr) rs121909367
NM_000163.5(GHR):c.515A>C (p.Gln172Pro) rs121909368
NM_000163.5(GHR):c.518T>G (p.Val173Gly) rs121909369
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000163.5(GHR):c.619-1G>T rs730880281
NM_000163.5(GHR):c.743_744del (p.Tyr248fs)
NM_000163.5(GHR):c.945G>A (p.Lys315=) rs1554040858
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.140A>T (p.Asp47Val) rs1554200995
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) rs1554201011
NM_000165.5(GJA1):c.32T>A (p.Leu11His)
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) rs1554201017
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) rs1554201018
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) rs1773898086
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) rs1773898234
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) rs104893964
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) rs121912970
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs) rs1451359371
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs) rs2151800620
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
NM_000180.4(GUCY2D):c.1378+1G>A rs1975751307
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs) rs1975768901
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) rs1168076308
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) rs1349155167
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs) rs2151799287
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs) rs1975665345
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.1957-1G>T rs61749759
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
NM_000180.4(GUCY2D):c.2113+1G>A
NM_000180.4(GUCY2D):c.2114-27_2263+18del rs1555635550
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal) rs1975890613
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter) rs2151802829
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2263+2T>C rs1975893449
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) rs1975911430
NM_000180.4(GUCY2D):c.2413-1G>C rs1975923246
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) rs1341592819
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn) rs1598150539
NM_000180.4(GUCY2D):c.2577-2A>C rs1975931968
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2770-1G>C rs1975943461
NM_000180.4(GUCY2D):c.2770-2A>G rs1975943416
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs) rs2151803659
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) rs1975957350
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) rs1975957618
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu) rs1975959442
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) rs866511152
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter) rs1975964112
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter) rs2151799357
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs) rs1374426388
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) rs386834239
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs) rs2151799452
NM_000180.4(GUCY2D):c.501del (p.Ala168fs) rs1975675766
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs) rs1975678842
NM_000180.4(GUCY2D):c.564del (p.Ala189fs) rs2151799492
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) rs768390959
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs) rs2151799567
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) rs1975693728
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter) rs755999834
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000208.4(INSR):c.1177G>A (p.Gly393Arg) rs267607184
NM_000208.4(INSR):c.1316G>C (p.Trp439Ser) rs121913158
NM_000208.4(INSR):c.1372A>G (p.Asn458Asp) rs121913160
NM_000208.4(INSR):c.164T>C (p.Val55Ala) rs121913152
NM_000208.4(INSR):c.172G>A (p.Gly58Arg) rs52836744
NM_000208.4(INSR):c.2095C>T (p.Gln699Ter) rs121913137
NM_000208.4(INSR):c.2770C>T (p.Arg924Ter) rs387906538
NM_000208.4(INSR):c.338G>C (p.Arg113Pro) rs121913153
NM_000208.4(INSR):c.438C>G (p.Ile146Met) rs121913159
NM_000208.4(INSR):c.442A>T (p.Lys148Ter) rs121913155
NM_000208.4(INSR):c.632C>T (p.Thr211Ile) rs1967766760
NM_000208.4(INSR):c.779T>C (p.Leu260Pro) rs121913141
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) rs137852613
NM_000211.5(ITGB2):c.1057del (p.Val353fs) rs2146511363
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
NM_000211.5(ITGB2):c.1168_1180del (p.Val390fs)
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000211.5(ITGB2):c.1275del (p.Phe426fs)
NM_000211.5(ITGB2):c.1367dup (p.Ser457fs) rs2146504324
NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)
NM_000211.5(ITGB2):c.1491C>A (p.Cys497Ter) rs774228764
NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs) rs1230903176
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter) rs748574145
NM_000211.5(ITGB2):c.1657+1G>T rs2146499719
NM_000211.5(ITGB2):c.1759del (p.Arg587fs) rs2146498117
NM_000211.5(ITGB2):c.185del (p.Cys62fs)
NM_000211.5(ITGB2):c.186C>A (p.Cys62Ter)
NM_000211.5(ITGB2):c.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
NM_000211.5(ITGB2):c.2036del (p.Gln679fs) rs1227331406
NM_000211.5(ITGB2):c.2051_2055dup (p.Leu686fs) rs2083735130
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.239del (p.Asp80fs)
NM_000211.5(ITGB2):c.295del (p.Ser99fs)
NM_000211.5(ITGB2):c.305_306del (p.Lys102fs) rs2146538658
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.329-36_452del
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) rs137852617
NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) rs137852611
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) rs137852612
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) rs137852610
NM_000211.5(ITGB2):c.59-10C>A
NM_000211.5(ITGB2):c.616C>T (p.His206Tyr)
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.742-14C>A rs183204825
NM_000211.5(ITGB2):c.753del (p.Trp252fs) rs1349812924
NM_000211.5(ITGB2):c.786del (p.Thr263fs) rs1601302490
NM_000211.5(ITGB2):c.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)
NM_000211.5(ITGB2):c.897+1G>T rs201752283
NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)
NM_000211.5(ITGB2):c.954del (p.Ile319fs)
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter) rs760108586
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter) rs2137501447
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter) rs1351510337
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2137501542
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
NM_000231.3(SGCG):c.241_297+1169del
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.333del (p.Thr112fs) rs1593197637
NM_000231.3(SGCG):c.361del (p.Glu121fs) rs1879928532
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.524_527del (p.Phe175fs) rs2137644682
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter) rs768134426
NM_000231.3(SGCG):c.528_534del (p.His177fs)
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) rs1011397929
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer) rs1180551378
NM_000231.3(SGCG):c.549dup (p.Val184fs) rs2137644772
NM_000231.3(SGCG):c.579-5729_702+1720del
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs) rs2137528211
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter) rs1325816562
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter) rs376410504
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer) rs2137528297
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.699_702del (p.Met234fs) rs2137528349
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs) rs1883154291
NM_000231.3(SGCG):c.735del (p.Lys246fs)
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.775_776del (p.Gln259fs) rs2137534154
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.82del (p.Ile28fs)
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter) rs1196026821
NM_000231.3(SGCG):c.89del (p.Gly30fs)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
NM_000232.5(SGCB):c.-10_13del (p.Met1fs) rs2109380910
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs) rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter) rs1737305761
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.255dup (p.Ile86fs) rs2109372084
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter) rs2109372060
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro) rs104893869
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.5(SGCB):c.2T>C (p.Met1Thr) rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.373dup (p.Ser125fs) rs2109371877
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.37del (p.Ser13fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.3G>T (p.Met1Ile) rs2109380946
NM_000232.5(SGCB):c.433del (p.Val145fs)
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.494del (p.Asp165fs)
NM_000232.5(SGCB):c.539dup (p.Ser181fs) rs1737176330
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.5(SGCB):c.558_568del (p.His187fs)
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.572del (p.Leu191fs) rs886042546
NM_000232.5(SGCB):c.579dup (p.Gly194fs) rs2109370922
NM_000232.5(SGCB):c.583dup (p.Val195fs)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.621+1G>A rs1264362642
NM_000232.5(SGCB):c.622-1G>C rs2109370093
NM_000232.5(SGCB):c.622-1G>T
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
NM_000232.5(SGCB):c.735_736del (p.Asn246fs) rs2109369924
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000232.5(SGCB):c.85dup (p.Arg29fs) rs2109376054
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5:c.74_283del
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile) rs28940580
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.214C>T (p.Gln72Ter) rs1959115414
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.265del (p.Ala89fs) rs1959114278
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.[2080A>G];[2177T>C]
NM_000245.4(MET):c.2521T>G (p.Phe841Val) rs794728016
NM_000254.3(MTR):c.1200dup (p.Val401fs)
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
NM_000254.3(MTR):c.1512del (p.Gln505fs)
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
NM_000254.3(MTR):c.1812_1812+1insATAC
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2139del (p.Met713fs)
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) rs1572309822
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.3(MTR):c.381del (p.Ala128fs)
NM_000254.3(MTR):c.573dup (p.Leu192fs)
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000254.3(MTR):c.610-1_613dup
NM_000254.3(MTR):c.617del (p.Leu206fs)
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000254.3(MTR):c.899dup (p.Pro301fs)
NM_000254.3(MTR):c.920dup (p.His307fs)
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
NM_000260.4(MYO7A):c.1003+1G>A rs1952694662
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) rs1952854443
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) rs387906700
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) rs1591287317
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.1845del (p.Lys615fs) rs886037762
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg) rs1954240719
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro) rs782396605
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000260.4(MYO7A):c.2662_2670del (p.Lys888_Lys890del) rs2135478294
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.2991_2992del (p.Glu998fs)
NM_000260.4(MYO7A):c.3275del (p.Gly1092fs)
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs) rs2135550200
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) rs397516303
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.4017dup (p.Ala1340fs)
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4207G>T (p.Glu1403Ter) rs916332384
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter) rs2135620605
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) rs1565455391
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.4852+1G>A rs1956938352
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del) rs1555102843
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.541C>T (p.Gln181Ter)
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter) rs778009227
NM_000260.4(MYO7A):c.5510T>A (p.Leu1837His) rs1385324903
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.565_566del (p.Val189fs) rs1060499651
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) rs1957844295
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) rs878853235
NM_000260.4(MYO7A):c.6229dup (p.Trp2077fs) rs2135785880
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs) rs2135798786
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) rs1555062984
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) rs121965081
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000271.4(NPC1):c.2134_2135del
NM_000271.4(NPC1):c.3249_3250del
NM_000271.5(NPC1):c.1020_1021del (p.Arg341fs) rs1555637255
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu) rs1444308532
NM_000271.5(NPC1):c.1029del (p.Ser344fs)
NM_000271.5(NPC1):c.1030del (p.Ser344fs) rs483352883
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1034del (p.Phe345fs) rs1057516950
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter) rs1474434210
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter) rs1278305591
NM_000271.5(NPC1):c.1102dup (p.Leu368fs)
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) rs1555637164
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs) rs1567965488
NM_000271.5(NPC1):c.1152dup (p.Ser385fs) rs2145456711
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter) rs1555637139
NM_000271.5(NPC1):c.1176dup (p.Glu393fs)
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)
NM_000271.5(NPC1):c.1205_1208del (p.Phe402fs)
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs) rs2058949697
NM_000271.5(NPC1):c.1253_1260dup (p.Gln421fs)
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter) rs2058949363
NM_000271.5(NPC1):c.1290del (p.Phe431fs)
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) rs750292546
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) rs1057517077
NM_000271.5(NPC1):c.1361del (p.Thr454fs)
NM_000271.5(NPC1):c.1368_1369del (p.Ser456_Tyr457insTer) rs2058928573
NM_000271.5(NPC1):c.1369dup (p.Tyr457fs)
NM_000271.5(NPC1):c.1417dup (p.Ser473fs) rs2145447827
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
NM_000271.5(NPC1):c.1435_1438dup (p.Thr480fs) rs2145447627
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) rs1555642296
NM_000271.5(NPC1):c.1451del (p.Val484fs)
NM_000271.5(NPC1):c.1497dup (p.Gly500fs) rs2058926540
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val) rs483352885
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1531_1532del (p.Thr511fs) rs2145446953
NM_000271.5(NPC1):c.1535A>G (p.His512Arg) rs1567963883
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
NM_000271.5(NPC1):c.1618_1619insGTAC (p.Pro540fs)
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)
NM_000271.5(NPC1):c.1654+1G>A rs2145433024
NM_000271.5(NPC1):c.1654+1dup
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
NM_000271.5(NPC1):c.1757+1G>T
NM_000271.5(NPC1):c.1757+2T>G
NM_000271.5(NPC1):c.1757+2_1757+3del
NM_000271.5(NPC1):c.1757_1757+1del
NM_000271.5(NPC1):c.1764dup (p.Asn589Ter)
NM_000271.5(NPC1):c.1770del (p.Phe590fs)
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)
NM_000271.5(NPC1):c.1800del (p.Ile601fs) rs483352879
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly) rs483352887
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.1844del (p.Arg615fs) rs1257362365
NM_000271.5(NPC1):c.1849dup (p.Ser617fs) rs2058769608
NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe) rs202140203
NM_000271.5(NPC1):c.1903_1906dup (p.Ser636fs) rs2058768417
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu) rs2058756032
NM_000271.5(NPC1):c.2039dup (p.Leu680fs) rs2145400078
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala) rs2058754429
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) rs1555634422
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2096_2097dup (p.Asp700fs)
NM_000271.5(NPC1):c.2096del (p.Val699fs) rs1598954455
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter) rs483352889
NM_000271.5(NPC1):c.2129del (p.Gln710fs) rs2058753352
NM_000271.5(NPC1):c.2130+1G>A rs2058753286
NM_000271.5(NPC1):c.2130+1G>C
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
NM_000271.5(NPC1):c.2170del (p.Leu724fs)
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)
NM_000271.5(NPC1):c.2175dup (p.Arg726fs)
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr) rs483352890
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) rs483352882
NM_000271.5(NPC1):c.2245+1G>A
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs) rs1057518613
NM_000271.5(NPC1):c.2286_2289del (p.Phe763fs)
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val) rs773765255
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter) rs2058711607
NM_000271.5(NPC1):c.2302dup (p.Val768fs) rs483352881
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)
NM_000271.5(NPC1):c.2336del (p.Phe779fs)
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.2374-1G>A rs2145381556
NM_000271.5(NPC1):c.239_258del (p.Leu80fs)
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)
NM_000271.5(NPC1):c.2464_2465insT (p.Lys822fs)
NM_000271.5(NPC1):c.2485del (p.Leu829fs)
NM_000271.5(NPC1):c.248_249del (p.Leu83fs) rs2145544570
NM_000271.5(NPC1):c.24dup (p.Gly9fs) rs2145603843
NM_000271.5(NPC1):c.2515-2A>G
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
NM_000271.5(NPC1):c.2531del (p.Gly844fs)
NM_000271.5(NPC1):c.2531dup (p.Val845fs) rs2145378067
NM_000271.5(NPC1):c.2536_2537del (p.Leu846fs)
NM_000271.5(NPC1):c.2591_2594del (p.Leu864fs)
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2604+2T>G
NM_000271.5(NPC1):c.2604+5G>A rs2058697907
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr) rs2058690179
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)
NM_000271.5(NPC1):c.2664dup (p.Val889fs) rs2058688995
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter) rs2145373524
NM_000271.5(NPC1):c.2683dup (p.Glu895fs) rs1555633326
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.5(NPC1):c.2719del (p.Met907fs)
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2775del (p.Asn925fs) rs1057516603
NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro) rs28940897
NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter) rs483352884
NM_000271.5(NPC1):c.2823del (p.Trp942fs) rs2145370732
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter) rs2145370569
NM_000271.5(NPC1):c.2857_2858del (p.Gln953fs) rs2145370503
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2878dup (p.Asp960fs)
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter) rs370766410
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.2960_2963del (p.Lys987fs) rs2145366821
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs) rs1555632977
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.2977_2978dup (p.Asp994fs)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu) rs764789542
NM_000271.5(NPC1):c.3025_3026insTAAC (p.Pro1009fs) rs1352485089
NM_000271.5(NPC1):c.3027del (p.Lys1010fs) rs1598942578
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
NM_000271.5(NPC1):c.3041+1G>T
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val) rs761773567
NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly) rs2145357984
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.3081_3082dup (p.Gly1028fs)
NM_000271.5(NPC1):c.3083_3084del (p.Gly1028fs) rs1274484561
NM_000271.5(NPC1):c.3086dup (p.His1029fs)
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)
NM_000271.5(NPC1):c.3108_3111del (p.Tyr1037fs) rs2145357685
NM_000271.5(NPC1):c.3122dup (p.Tyr1041Ter) rs2145357627
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala) rs876661319
NM_000271.5(NPC1):c.3135dup (p.Gln1046fs)
NM_000271.5(NPC1):c.3152_3153del (p.Phe1051fs) rs2145357371
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs) rs863224902
NM_000271.5(NPC1):c.3245+1G>T
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.3254_3255del (p.Tyr1085fs) rs2145351971
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
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.3281del (p.Ile1094fs)
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs) rs2145351616
NM_000271.5(NPC1):c.3299_3300dup (p.Asn1101fs) rs2145351545
NM_000271.5(NPC1):c.3320dup (p.Ala1108fs) rs2145351287
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.3325del (p.Ile1109fs) rs1057517149
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs) rs2145350930
NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs) rs2058616798
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)
NM_000271.5(NPC1):c.3457_3458dup (p.Leu1154fs) rs1263493813
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del) rs2058614971
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000271.5(NPC1):c.3477+1G>A rs1405889589
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter) rs2145527075
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.350dup (p.Ser118fs) rs2145527060
NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) rs1555631982
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3540del (p.Gly1181fs)
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter) rs776701050
NM_000271.5(NPC1):c.3562del (p.Glu1188fs) rs758231839
NM_000271.5(NPC1):c.3591+2T>A rs1555631888
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3591+2T>G
NM_000271.5(NPC1):c.3591+2dup rs2145342749
NM_000271.5(NPC1):c.3597del (p.Phe1199fs) rs2058574038
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000271.5(NPC1):c.3612dup (p.Thr1205fs) rs2145336359
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs) rs886041356
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3645del (p.Phe1215fs)
NM_000271.5(NPC1):c.3658dup (p.Ile1220fs)
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)
NM_000271.5(NPC1):c.3678del (p.Phe1226fs) rs2058572084
NM_000271.5(NPC1):c.3689del (p.Leu1230fs)
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.3740dup (p.Leu1247fs)
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.407del (p.Gln136fs)
NM_000271.5(NPC1):c.415del (p.Thr139fs)
NM_000271.5(NPC1):c.416dup (p.Asn140fs) rs483352880
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) rs1057516749
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.473del (p.Asn158fs)
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile) rs2059038310
NM_000271.5(NPC1):c.644del (p.His215fs) rs2145481013
NM_000271.5(NPC1):c.652del (p.Glu218fs)
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.5(NPC1):c.741_742del (p.Cys247fs)
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
NM_000271.5(NPC1):c.750_763dup (p.Pro255fs)
NM_000271.5(NPC1):c.754del (p.Gln252fs)
NM_000271.5(NPC1):c.762del (p.Pro255fs)
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter) rs2059233403
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000271.5(NPC1):c.846_847del (p.Phe284fs)
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.852dup (p.Gly285fs) rs762124334
NM_000271.5(NPC1):c.85G>T (p.Gly29Ter) rs2145552346
NM_000271.5(NPC1):c.864del (p.Phe288fs)
NM_000271.5(NPC1):c.881+1G>T rs1555638409
NM_000271.5(NPC1):c.895del (p.Val299fs)
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
NM_000271.5(NPC1):c.94_97dup (p.Ile33fs) rs2145552247
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_000272.5:c.(?_-1)_(*1_?)del
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.2(PAH):c.169_171delGAG rs199475665
NM_000277.3(PAH):c.(?_169)_352+?del
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter) rs62516061
NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer)
NM_000277.3(PAH):c.1013A>T (p.Asp338Val)
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter) rs62517200
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro) rs62507282
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter) rs1874735553
NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter) rs1874735553
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) rs1555203737
NM_000277.3(PAH):c.1038del (p.Leu347fs) rs62516063
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs) rs199475600
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala) rs62508646
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu) rs62507279
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys) rs62508686
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1056del (p.Glu353fs) rs62507350
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter) rs199475633
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.1065+241C>A rs2136636327
NM_000277.3(PAH):c.1066-14C>G rs62507334
NM_000277.3(PAH):c.1066-1G>A rs62508684
NM_000277.3(PAH):c.1066-1G>C rs62508684
NM_000277.3(PAH):c.1066-1G>T rs62508684
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1071C>A (p.Cys357Ter) rs766107583
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) rs5030854
NM_000277.3(PAH):c.1078G>T (p.Glu360Ter) rs2136635903
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr) rs62507329
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) rs1592947538
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1099dup (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1111_1117del (p.Lys371fs)
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1115_1116dup (p.Ala373fs)
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs) rs62516099
NM_000277.3(PAH):c.111dup (p.Ile38fs) rs199475674
NM_000277.3(PAH):c.1127del (p.Asn376fs) rs62642921
NM_000277.3(PAH):c.1129del (p.Tyr377fs) rs62642941
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1149del (p.Gln383fs) rs1874691210
NM_000277.3(PAH):c.1153del (p.Leu385fs) rs1565842203
NM_000277.3(PAH):c.1159T>C (p.Tyr387His) rs62517194
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter) rs149595475
NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter) rs149595475
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1163_1164del (p.Val388fs) rs199475629
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)
NM_000277.3(PAH):c.1176dup (p.Asn393Ter)
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) rs62516102
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg) rs776178623
NM_000277.3(PAH):c.1189G>T (p.Glu397Ter)
NM_000277.3(PAH):c.1192A>T (p.Lys398Ter) rs2136635468
NM_000277.3(PAH):c.1194A>G (p.Lys398=) rs199475638
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+1G>T
NM_000277.3(PAH):c.1199+20G>C rs62509018
NM_000277.3(PAH):c.1199+502A>T rs2136634974
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.1200-1G>C rs62507322
NM_000277.3(PAH):c.1200-2A>C rs1592945607
NM_000277.3(PAH):c.1200-2A>G rs1592945607
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1215_1219del (p.Ile406fs) rs1874547168
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1232C>G (p.Ser411Ter)
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser) rs62644467
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys)
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter)
NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr) rs62644499
NM_000277.3(PAH):c.1244A>T (p.Asp415Val) rs2136632085
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys) rs1371700813
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) rs62644501
NM_000277.3(PAH):c.1253C>A (p.Thr418Asn)
NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) rs199475696
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter) rs199475670
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.127del (p.Glu43fs) rs2136728245
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1316-1G>A rs1592944816
NM_000277.3(PAH):c.1316-2A>C rs760830761
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr) rs1192400891
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.137del (p.Gly46fs) rs199475591
NM_000277.3(PAH):c.13del (p.Val5fs) rs1592991243
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) rs199475630
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+2T>A rs1025860114
NM_000277.3(PAH):c.168+2T>C rs1025860114
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168G>T (p.Glu56Asp) rs199475567
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.169-1G>A rs1877439517
NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer) rs1592979013
NM_000277.3(PAH):c.181A>G (p.Asn61Asp) rs199475651
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.184_185insCTGA (p.Leu62fs) rs1592978986
NM_000277.3(PAH):c.184del (p.Asn61_Leu62insTer) rs1592978992
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn) rs1877437047
NM_000277.3(PAH):c.189_190dup (p.His64fs) rs672601294
NM_000277.3(PAH):c.190_194del (p.Thr63_His64insTer) rs1592978950
NM_000277.3(PAH):c.190del (p.His64fs) rs672601294
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.197_204del (p.Glu66fs) rs2136702049
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.199T>G (p.Ser67Ala) rs5030842
NM_000277.3(PAH):c.1A>T (p.Met1Leu) rs62514891
NM_000277.3(PAH):c.202A>G (p.Arg68Gly) rs199475639
NM_000277.3(PAH):c.206dup (p.Ser70fs) rs1592978901
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.210del (p.Arg71fs) rs2136701994
NM_000277.3(PAH):c.223G>C (p.Asp75His) rs767453024
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.227A>C (p.Glu76Ala) rs62507347
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter) rs62507332
NM_000277.3(PAH):c.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.23del (p.Asn8fs)
NM_000277.3(PAH):c.241_256del (p.Thr81fs) rs63749677
NM_000277.3(PAH):c.253A>T (p.Lys85Ter) rs1877430029
NM_000277.3(PAH):c.265C>T (p.Pro89Ser) rs62507270
NM_000277.3(PAH):c.266_267insG (p.Ala90fs) rs1592978760
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.277_280del (p.Asn93fs)
NM_000277.3(PAH):c.280_283del (p.Ile94fs)
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.2T>G (p.Met1Arg) rs62508575
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.308G>A (p.Gly103Asp) rs2136701578
NM_000277.3(PAH):c.30dup (p.Arg13fs) rs1592991220
NM_000277.3(PAH):c.324_328del (p.Glu108fs) rs1877424058
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.32T>A (p.Leu11Ter) rs1346707834
NM_000277.3(PAH):c.338_341del (p.Lys113fs)
NM_000277.3(PAH):c.344_347del (p.Lys115fs) rs199475648
NM_000277.3(PAH):c.346_347del (p.Asp116fs) rs1592978629
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.352+1G>A rs199475684
NM_000277.3(PAH):c.353-1G>A rs1876628530
NM_000277.3(PAH):c.353-2A>G rs1876628624
NM_000277.3(PAH):c.353-2A>T
NM_000277.3(PAH):c.353-6T>A rs62517195
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.359G>A (p.Trp120Ter) rs199475586
NM_000277.3(PAH):c.361T>C (p.Phe121Leu)
NM_000277.3(PAH):c.364C>T (p.Pro122Ser) rs1466564208
NM_000277.3(PAH):c.365C>A (p.Pro122Gln) rs199475622
NM_000277.3(PAH):c.365del (p.Pro122fs) rs1876626818
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.3G>A (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.3G>C (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.428A>G (p.Asp143Gly) rs199475572
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.43_44insAG (p.Leu15fs) rs1592991196
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+2T>A rs1876618843
NM_000277.3(PAH):c.441+2T>G rs1876618843
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-1377_509+226del
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.442-1G>C rs62514907
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.442-2A>G
NM_000277.3(PAH):c.442-4403_509+883del
NM_000277.3(PAH):c.443_509+1del rs199475649
NM_000277.3(PAH):c.450dup (p.Asp151fs)
NM_000277.3(PAH):c.456_463dup (p.Arg155fs) rs2136663420
NM_000277.3(PAH):c.460T>C (p.Tyr154His) rs199475587
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe) rs1565853526
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter) rs1191473722
NM_000277.3(PAH):c.463del (p.Arg155fs) rs1875984331
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.466G>C (p.Ala156Pro) rs199475686
NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn) rs1565853495
NM_000277.3(PAH):c.472C>G (p.Arg158Gly)
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.47_48dup (p.Asp17fs)
NM_000277.3(PAH):c.47_48insCT (p.Asp17fs) rs1592991184
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.48dup (p.Asp17Ter) rs1592991176
NM_000277.3(PAH):c.491T>C (p.Ile164Thr) rs199475595
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.493_496del (p.Ala165fs)
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.505C>A (p.Arg169Ser) rs281865440
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.509A>C (p.His170Pro) rs199475573
NM_000277.3(PAH):c.510-19_667del
NM_000277.3(PAH):c.510-1G>A rs1875377960
NM_000277.3(PAH):c.510-1G>C
NM_000277.3(PAH):c.510-21_687delinsCCA rs2136649216
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.510-735_912+434del
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.511G>C (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.514C>T (p.Gln172Ter) rs199475588
NM_000277.3(PAH):c.521T>A (p.Ile174Asn)
NM_000277.3(PAH):c.521T>C (p.Ile174Thr) rs138809906
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.527G>C (p.Arg176Pro) rs74486803
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.535T>C (p.Tyr179His) rs199475671
NM_000277.3(PAH):c.544G>A (p.Glu182Lys) rs2136649777
NM_000277.3(PAH):c.547G>T (p.Glu183Ter) rs199475664
NM_000277.3(PAH):c.551del (p.Lys184fs) rs1875371722
NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT
NM_000277.3(PAH):c.553_706+647del
NM_000277.3(PAH):c.556A>G (p.Thr186Ala)
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.557C>T (p.Thr186Ile) rs1875371404
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.563del (p.Gly188fs) rs62507260
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer) rs2136649605
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.584dup (p.Ser196fs) rs1875368328
NM_000277.3(PAH):c.586_608del (p.Ser196fs) rs62895363
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.590T>A (p.Leu197Ter) rs886042078
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.593_614del (p.Tyr198fs) rs63749676
NM_000277.3(PAH):c.594T>G (p.Tyr198Ter)
NM_000277.3(PAH):c.598dup (p.Thr200fs) rs62508643
NM_000277.3(PAH):c.60+2del
NM_000277.3(PAH):c.60+5G>C rs62514895
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.603T>G (p.His201Gln) rs751977644
NM_000277.3(PAH):c.607dup (p.Cys203fs) rs1875366372
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.615G>C (p.Glu205Asp) rs765552494
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.632dup (p.Leu212fs)
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.665A>T (p.Asp222Val) rs62507319
NM_000277.3(PAH):c.667_674dup (p.Gln226fs) rs2136649263
NM_000277.3(PAH):c.669del (p.Asn223fs)
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.676C>A (p.Gln226Lys) rs62508696
NM_000277.3(PAH):c.678G>C (p.Gln226His) rs62508615
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.682G>T (p.Glu228Ter) rs281865444
NM_000277.3(PAH):c.686dup (p.Asp229fs) rs1565848110
NM_000277.3(PAH):c.690_691insG (p.Ser231fs) rs1875354018
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.692C>T (p.Ser231Phe) rs62508577
NM_000277.3(PAH):c.697T>A (p.Phe233Ile) rs1565848061
NM_000277.3(PAH):c.699C>A (p.Phe233Leu) rs62517208
NM_000277.3(PAH):c.699C>G (p.Phe233Leu) rs62517208
NM_000277.3(PAH):c.703C>T (p.Gln235Ter) rs1237792711
NM_000277.3(PAH):c.707-12_711del rs1555204492
NM_000277.3(PAH):c.707-1G>A rs62507269
NM_000277.3(PAH):c.707-1G>C rs62507269
NM_000277.3(PAH):c.707-2A>G rs62514938
NM_000277.3(PAH):c.707-2A>T
NM_000277.3(PAH):c.707-2del rs1592953143
NM_000277.3(PAH):c.713C>T (p.Thr238Ile)
NM_000277.3(PAH):c.716G>A (p.Gly239Asp) rs62507283
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.722_735delinsCCTCCGACCTGTA (p.Arg241fs) rs2136646367
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.733G>A (p.Val245Met) rs62508694
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu)
NM_000277.3(PAH):c.734T>A (p.Val245Glu) rs76212747
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.740del (p.Gly247fs) rs2136646337
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.753_754del (p.Arg252fs) rs2136646297
NM_000277.3(PAH):c.753del (p.Arg252fs) rs2136646301
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.755G>C (p.Arg252Pro) rs62644503
NM_000277.3(PAH):c.75del (p.Ile25fs)
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849
NM_000277.3(PAH):c.788T>C (p.Phe263Ser) rs1565846863
NM_000277.3(PAH):c.78del (p.Asp27fs)
NM_000277.3(PAH):c.792del (p.Cys265fs)
NM_000277.3(PAH):c.795C>A (p.Cys265Ter) rs1231529155
NM_000277.3(PAH):c.799C>G (p.Gln267Glu) rs199475676
NM_000277.3(PAH):c.799C>T (p.Gln267Ter) rs199475676
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.801del (p.Gln267fs) rs1875230062
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys) rs1565846805
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter) rs748337823
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del)
NM_000277.3(PAH):c.810A>T (p.Arg270Ser) rs62514951
NM_000277.3(PAH):c.810_814del (p.His271fs) rs62507286
NM_000277.3(PAH):c.811C>A (p.His271Asn)
NM_000277.3(PAH):c.822_832del (p.Lys274fs) rs199475581
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.827T>A (p.Met276Lys) rs62508722
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
NM_000277.3(PAH):c.827T>G (p.Met276Arg) rs62508722
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.835C>A (p.Pro279Thr)
NM_000277.3(PAH):c.836C>T (p.Pro279Leu) rs796064503
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.837dup (p.Glu280fs)
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
NM_000277.3(PAH):c.839A>G (p.Glu280Gly) rs62508734
NM_000277.3(PAH):c.839_840insT (p.Glu280fs) rs199475653
NM_000277.3(PAH):c.842+1G>T rs5030852
NM_000277.3(PAH):c.842+2T>A rs62514955
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000277.3(PAH):c.842C>G (p.Pro281Arg) rs5030851
NM_000277.3(PAH):c.843-1G>A rs1373264140
NM_000277.3(PAH):c.843-2A>T rs62509019
NM_000277.3(PAH):c.843-5T>C rs1875163630
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.845A>G (p.Asp282Gly) rs199475660
NM_000277.3(PAH):c.856G>A (p.Glu286Lys) rs62508739
NM_000277.3(PAH):c.865G>C (p.Gly289Arg) rs199475693
NM_000277.3(PAH):c.868C>T (p.His290Tyr) rs1486763160
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>A (p.His290Gln)
NM_000277.3(PAH):c.873_880del (p.Pro292fs)
NM_000277.3(PAH):c.884C>G (p.Ser295Ter) rs62642910
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.901C>T (p.Gln301Ter) rs1057520732
NM_000277.3(PAH):c.901del (p.Gln301fs)
NM_000277.3(PAH):c.902A>C (p.Gln301Pro) rs1592952183
NM_000277.3(PAH):c.907del (p.Ser303fs) rs62642920
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.912+1G>C rs62514956
NM_000277.3(PAH):c.912+1G>T rs62514956
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.913-2A>G rs1555203951
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.920G>A (p.Gly307Asp) rs2136639683
NM_000277.3(PAH):c.920del (p.Gly307fs) rs2136639687
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) rs62651568
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000277.3(PAH):c.935G>T (p.Gly312Val) rs62642915
NM_000277.3(PAH):c.935del (p.Gly312fs) rs2136639639
NM_000277.3(PAH):c.938C>T (p.Ala313Val) rs62642914
NM_000277.3(PAH):c.940C>T (p.Pro314Ser) rs199475650
NM_000277.3(PAH):c.941del (p.Pro314fs) rs62642907
NM_000277.3(PAH):c.957_958insTT (p.Lys320fs)
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.969+2T>G rs1477313214
NM_000277.3(PAH):c.969+5G>A rs62508637
NM_000277.3(PAH):c.971T>A (p.Ile324Asn)
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
NM_000277.3(PAH):c.976del (p.Trp326fs) rs1874741770
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) rs199475614
NM_000281.3(PCBD1):c.[79G>T;263G>A]
NM_000281.4(PCBD1):c.108_118del (p.Lys36fs)
NM_000281.4(PCBD1):c.111del (p.Gln37fs)
NM_000281.4(PCBD1):c.201dup (p.Asn68Ter)
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile) rs121913014
NM_000281.4(PCBD1):c.272del (p.Asn91fs) rs1589483932
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln) rs770334825
NM_000281.4(PCBD1):c.46del (p.Leu16fs) rs397518414
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs) rs2142228734
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.116del (p.His39fs) rs2142231614
NM_000286.3(PEX12):c.122del (p.Val41fs)
NM_000286.3(PEX12):c.126+1G>A rs144259891
NM_000286.3(PEX12):c.126+1G>C
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.151_154del (p.His51fs) rs2142231234
NM_000286.3(PEX12):c.174del (p.Trp58fs) rs2142231201
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.222dup (p.Leu75fs) rs2142231111
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter) rs61752099
NM_000286.3(PEX12):c.268_269del (p.Lys90fs)
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.286del (p.Asp96fs)
NM_000286.3(PEX12):c.305_306del (p.Arg102fs) rs2142230957
NM_000286.3(PEX12):c.308dup (p.Leu103fs) rs61752101
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter) rs2142230890
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)
NM_000286.3(PEX12):c.459del (p.Lys153fs)
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.471del (p.Ala158fs) rs2142230667
NM_000286.3(PEX12):c.4del (p.Ala2fs)
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter) rs923109489
NM_000286.3(PEX12):c.51_54del (p.Gln17fs) rs886041458
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer) rs2072797369
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.669del (p.Gln223fs)
NM_000286.3(PEX12):c.680_680+12del
NM_000286.3(PEX12):c.680_680+1delinsCA rs2142230388
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.725del (p.Gly242fs)
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter) rs1429126106
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
NM_000286.3(PEX12):c.842del (p.Thr281fs) rs2072782816
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
NM_000286.3(PEX12):c.887del (p.Leu296fs)
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter) rs2142228982
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) rs267608212
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter) rs1478799269
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs) rs1189098622
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs) rs2150240574
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs) rs2150234919
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1138dup (p.Glu380fs) rs2114248372
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter) rs2114248288
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1216dup (p.His406fs) rs2114248084
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
NM_000287.4(PEX6):c.1301del (p.Ser434fs) rs62641231
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
NM_000287.4(PEX6):c.1357del (p.Leu453fs) rs2114247385
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1404del (p.Arg469fs) rs267608218
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
NM_000287.4(PEX6):c.1522del (p.Glu508fs) rs754684285
NM_000287.4(PEX6):c.1573dup (p.Val525fs) rs2114244815
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.4(PEX6):c.1681del (p.Leu561fs) rs1200299979
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.1688+1G>T rs112298166
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs) rs2114242907
NM_000287.4(PEX6):c.1691del (p.Cys564fs) rs2114242920
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) rs375288192
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs) rs2114242538
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
NM_000287.4(PEX6):c.1805del (p.Leu602fs) rs2114242547
NM_000287.4(PEX6):c.1891del (p.Val631fs) rs2114241031
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) rs1769818844
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
NM_000287.4(PEX6):c.212del (p.Pro71fs) rs2150240582
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.237_238del (p.Leu80fs) rs1178535907
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2470del (p.Arg824fs) rs2114238399
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter) rs2114236416
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer) rs2114236281
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
NM_000287.4(PEX6):c.2T>C (p.Met1Thr) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
NM_000287.4(PEX6):c.402del (p.Gly135fs)
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.514del (p.Asp172fs)
NM_000287.4(PEX6):c.514dup (p.Asp172fs) rs2150239907
NM_000287.4(PEX6):c.530del (p.Pro177fs)
NM_000287.4(PEX6):c.531del (p.Pro179fs) rs2150239870
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.630del (p.Cys211fs) rs2150239689
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
NM_000287.4(PEX6):c.655del (p.Gln219fs)
NM_000287.4(PEX6):c.656del (p.Gln219fs) rs267608202
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
NM_000287.4(PEX6):c.689_690del (p.Glu230fs) rs398123305
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
NM_000287.4(PEX6):c.698del (p.Asn233fs)
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter) rs779526175
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.738_741del (p.Glu246fs) rs2150239487
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter) rs1770400284
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000287.4(PEX6):c.814_817dup (p.Val273fs) rs367543282
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
NM_000287.4(PEX6):c.856del (p.Leu286fs) rs267608205
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
NM_000287.4(PEX6):c.882+1G>A rs267608207
NM_000287.4(PEX6):c.896del (p.Gly299fs)
NM_000287.4(PEX6):c.909del (p.Glu304fs)
NM_000287.4(PEX6):c.914_923del (p.Asp305fs) rs1364614470
NM_000287.4(PEX6):c.916_919del (p.Lys306fs) rs2150236148
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
NM_000288.4(PEX7):c.10del (p.Val4fs)
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter) rs1774102216
NM_000288.4(PEX7):c.12del (p.Cys5fs)
NM_000288.4(PEX7):c.130+2T>G rs2115122957
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.213del (p.Phe71fs) rs1190462422
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
NM_000288.4(PEX7):c.294del (p.Ala100fs) rs1456007349
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) rs1554331461
NM_000288.4(PEX7):c.364del (p.Thr122fs) rs2115170460
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs) rs2115171634
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs) rs1774099032
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.517del (p.Ser173fs) rs2115171791
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
NM_000288.4(PEX7):c.52dup (p.His18fs)
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer) rs1554333636
NM_000288.4(PEX7):c.546_547del (p.Ile182fs) rs2115216632
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs) rs2115122515
NM_000288.4(PEX7):c.652del (p.Ala218fs)
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
NM_000288.4(PEX7):c.860_861del (p.Glu287fs) rs2115273041
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) rs1569713366
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs) rs2100756997
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter) rs1189324317
NM_000302.4(PLOD1):c.1479dup (p.Met494fs) rs1569724692
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1646del (p.Glu549fs) rs2100760068
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
NM_000302.4(PLOD1):c.1772del (p.Gly591fs) rs1645855563
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter) rs1434924385
NM_000302.4(PLOD1):c.272del (p.Lys91fs) rs2100743480
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter) rs1645691337
NM_000302.4(PLOD1):c.402del (p.Asp135fs) rs886043926
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)
NM_000317.3(PTS):c.-24_9del rs2135407114
NM_000317.3(PTS):c.107del (p.Asn36fs) rs1859894340
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter) rs781197929
NM_000317.3(PTS):c.163+696_163+750del rs1555198165
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs) rs2135408968
NM_000317.3(PTS):c.186+1G>A
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
NM_000317.3(PTS):c.1A>G (p.Met1Val) rs2135407146
NM_000317.3(PTS):c.200C>A (p.Thr67Lys) rs370340361
NM_000317.3(PTS):c.236_239del (p.Tyr79fs) rs1399026048
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.243G>A (p.Glu81=) rs2135409211
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.26G>A (p.Arg9His) rs1213277062
NM_000317.3(PTS):c.272A>G (p.Lys91Arg) rs761285716
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
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.314+2T>C rs2135410340
NM_000317.3(PTS):c.315-1G>A
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
NM_000317.3(PTS):c.331G>A (p.Ala111Thr) rs1367077861
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
NM_000317.3(PTS):c.379C>T (p.Leu127Phe) rs1859971515
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter) rs1859971691
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter) rs199603175
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.407A>T (p.Asp136Val) rs1859972447
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.73C>T (p.Arg25Ter) rs1167104933
NM_000317.3(PTS):c.74G>A (p.Arg25Gln) rs104894273
NM_000317.3(PTS):c.84-323A>T rs794726657
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter) rs1297517393
NM_000318.3(PEX2):c.113del (p.Thr38fs)
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter) rs61752118
NM_000318.3(PEX2):c.118del (p.Cys40fs)
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer) rs2132044757
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.220dup (p.Ala74fs) rs777974798
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.24_25del (p.Lys9fs) rs2132045027
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter) rs2132044384
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.369del (p.Leu123fs)
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter) rs1224224276
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs) rs2132044079
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
NM_000318.3(PEX2):c.416_417del (p.Val139fs) rs2132044032
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs) rs2132043966
NM_000318.3(PEX2):c.470del (p.Phe157fs)
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) rs1586069639
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
NM_000318.3(PEX2):c.524del (p.Ser175fs) rs2132043781
NM_000318.3(PEX2):c.549_550del (p.Ile183fs) rs756891007
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs) rs2132043724
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer) rs2132043667
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.618del (p.Leu207fs) rs2132043567
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
NM_000318.3(PEX2):c.79_80del (p.Lys27fs) rs1261498405
NM_000318.3(PEX2):c.865dup (p.Ser289fs) rs724160029
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter) rs149287302
NM_000320.3(QDPR):c.106T>C (p.Trp36Arg) rs104893865
NM_000320.3(QDPR):c.174del (p.Ser59fs) rs1577195951
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
NM_000320.3(QDPR):c.198+1G>A rs2108997263
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) rs104893867
NM_000320.3(QDPR):c.278del (p.Gly93fs)
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) rs104893864
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup) rs2108993008
NM_000320.3(QDPR):c.383_407del (p.Glu128fs) rs2108992958
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
NM_000320.3(QDPR):c.437-429A>G rs2108987974
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) rs104893866
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn) rs2108987681
NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter) rs1171544975
NM_000320.3(QDPR):c.523del (p.Ala175fs)
NM_000320.3(QDPR):c.53del (p.Gly18fs) rs2108999089
NM_000320.3(QDPR):c.576del (p.Lys192fs)
NM_000320.3(QDPR):c.609dup (p.Pro204fs)
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter) rs1362475419
NM_000320.3(QDPR):c.629+2T>C
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.2:c.1_1602del
NM_000329.3(RPE65):c.1002del (p.Phe334fs)
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter) rs2100817136
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1115del (p.Pro371_Leu372insTer)
NM_000329.3(RPE65):c.1115dup (p.Leu372fs) rs2100816844
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)
NM_000329.3(RPE65):c.1205_1206insCCTG (p.Trp402fs)
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) rs1645826120
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
NM_000329.3(RPE65):c.1336dup (p.Arg446fs)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1360del (p.Thr454fs) rs2100807036
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.142_143del (p.Gly48fs)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1443del (p.Asp482fs) rs2100806806
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451-2del rs2100805351
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) rs1645945978
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs) rs2100805193
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) rs2100804954
NM_000329.3(RPE65):c.1590del (p.Phe530fs) rs281865292
NM_000329.3(RPE65):c.1596dup (p.Ser533fs) rs1645806893
NM_000329.3(RPE65):c.170T>C (p.Phe57Ser)
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter) rs1645945599
NM_000329.3(RPE65):c.190del (p.Gln64fs)
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) rs1344724754
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
NM_000329.3(RPE65):c.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu) rs2100828545
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
NM_000329.3(RPE65):c.354-2A>G
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)
NM_000329.3(RPE65):c.3G>A (p.Met1Ile) rs1357241537
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys) rs1645928294
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) rs1469460289
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter) rs56021047
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000329.3(RPE65):c.444_445del (p.Glu148fs) rs1645927790
NM_000329.3(RPE65):c.46_49del (p.Phe16fs) rs866809120
NM_000329.3(RPE65):c.495+1dup rs281865288
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.504_580del (p.Cys169fs) rs2100821707
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) rs1645898563
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
NM_000329.3(RPE65):c.528_529del (p.Ala177fs) rs2100821898
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.596del (p.Asn199fs)
NM_000329.3(RPE65):c.596dup (p.Asn199fs)
NM_000329.3(RPE65):c.601del (p.Ser201fs)
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
NM_000329.3(RPE65):c.61del (p.Glu21fs) rs758550330
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.644-1G>A
NM_000329.3(RPE65):c.644-2A>T rs61752891
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.675C>A (p.Ile225=) rs114379164
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter) rs2100819756
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) rs1645885900
NM_000329.3(RPE65):c.716dup (p.Tyr239Ter)
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
NM_000329.3(RPE65):c.725+1G>A rs1260969698
NM_000329.3(RPE65):c.725+1G>T
NM_000329.3(RPE65):c.725+2T>C rs1355979496
NM_000329.3(RPE65):c.726-1G>A
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) rs373652862
NM_000329.3(RPE65):c.750del (p.Ile250fs)
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.775dup (p.Ile259fs) rs2100819197
NM_000329.3(RPE65):c.777dup (p.Asn260Ter) rs2100819190
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) rs2100819151
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000329.3(RPE65):c.829_833del (p.Asp277fs) rs1645882447
NM_000329.3(RPE65):c.843_858+7del rs1645882103
NM_000329.3(RPE65):c.858+1G>A rs61752899
NM_000329.3(RPE65):c.858+1G>C
NM_000329.3(RPE65):c.858+1G>T rs61752899
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.859del rs2100818777
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.886dup (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.894del (p.Lys298fs) rs61752903
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter) rs2100818575
NM_000329.3(RPE65):c.93A>G (p.Thr31=) rs2100834154
NM_000329.3(RPE65):c.943_950del (p.Ile315fs) rs2100818444
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) rs768448761
NM_000329.3(RPE65):c.95-1G>C
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.985del (p.Cys329fs)
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140
NM_000329.3(RPE65):c.998+1G>A rs1645879495
NM_000329.3(RPE65):c.999-1G>T
NM_000329.3(RPE65):c.999-2A>G
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.685del (p.Thr229fs) rs1909597270
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000336.3(SCNN1B):c.1271-1G>C
NM_000336.3(SCNN1B):c.1346+1G>A
NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter) rs758700138
NM_000337.6(SGCD):c.354_358del (p.Thr119fs) rs1760626889
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter) rs2113389536
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1105-24T>A rs587776767
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter) rs2133690417
NM_000360.4(TH):c.1125del (p.Glu375fs) rs2133690407
NM_000360.4(TH):c.1138A>T (p.Lys380Ter) rs2133690361
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1189G>C (p.Gly397Arg)
NM_000360.4(TH):c.1210_1213del (p.Ser404fs) rs2133689285
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1252dup (p.Ala418fs)
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter)
NM_000360.4(TH):c.1354C>T (p.Gln452Ter) rs2133686936
NM_000360.4(TH):c.138dup (p.Lys47fs)
NM_000360.4(TH):c.202del (p.Leu68fs)
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.263del (p.Pro88fs)
NM_000360.4(TH):c.281C>A (p.Ser94Ter) rs760640869
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000360.4(TH):c.374_387dup (p.Tyr130fs) rs2133697599
NM_000360.4(TH):c.412C>T (p.Arg138Ter)
NM_000360.4(TH):c.494G>A (p.Trp165Ter)
NM_000360.4(TH):c.507del (p.Val170fs)
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.545_546del (p.Lys182fs)
NM_000360.4(TH):c.583del (p.Ser195fs)
NM_000360.4(TH):c.584C>A (p.Ser195Ter) rs372409517
NM_000360.4(TH):c.592del (p.Val198fs)
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.641G>T (p.Arg214Met)
NM_000360.4(TH):c.672C>G (p.Tyr224Ter) rs1554923218
NM_000360.4(TH):c.711del (p.Thr238fs)
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.739_743dup (p.Cys248fs)
NM_000360.4(TH):c.778del (p.Arg260fs)
NM_000360.4(TH):c.788del (p.Gly263fs) rs2133693561
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.78del (p.Glu27fs) rs1846263622
NM_000360.4(TH):c.796G>T (p.Glu266Ter)
NM_000360.4(TH):c.837del (p.Lys280fs)
NM_000360.4(TH):c.898del (p.Leu300fs)
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-833dup
NM_000360.4(TH):c.91-835AC[3]
NM_000360.4(TH):c.91-883dup
NM_000360.4(TH):c.916del (p.Arg306fs)
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.925C>T (p.Gln309Ter)
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.982_991del (p.Cys328fs)
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000360.4(TH):c.990del (p.His330fs) rs1846095407
NM_000360.4(TH):c.991G>T (p.Glu331Ter) rs1260079066
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs) rs766675875
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) rs1554524061
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs) rs1554605631
NM_000370.3(TTPA):c.553-1G>T rs2129741848
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer) rs1943996205
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1237del (p.Glu413fs) rs1565423615
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1322del (p.Ser441fs)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.255del (p.Phe84_Tyr85insTer)
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.859dup (p.Ser287fs) rs2135253148
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
NM_000382.2(ALDH3A2):c.[733G>A;901G>C;906delT;909T>G]
NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)
NM_000382.3(ALDH3A2):c.1108-1G>C rs1036733598
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs) rs781059624
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)
NM_000382.3(ALDH3A2):c.374_378del (p.Ala125fs) rs886039304
NM_000382.3(ALDH3A2):c.385+2T>C rs2084819840
NM_000382.3(ALDH3A2):c.471+1G>C
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter) rs1447023449
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)
NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) rs72547567
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000382.3(ALDH3A2):c.798+1del rs757359379
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla) rs730880264
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047
NM_000384.2(APOB):c.11905del rs387906569
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) rs1553383898
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.819-2A>G rs1572800245
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) rs886037833
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.89+1G>A rs1855631590
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln) rs1971845337
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) rs1971844830
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_000400.4(ERCC2):c.361-1G>A
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter) rs1750958514
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1230C>G (p.Tyr410Ter) rs763891697
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
NM_000414.4(HSD17B4):c.1235_1236del (p.Glu412fs) rs2126790168
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs) rs1751933402
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter) rs1751944228
NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs)
NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs) rs775060894
NM_000414.4(HSD17B4):c.1499_1502del (p.Asn500fs)
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs) rs2126834942
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1578dup (p.Asp527Ter)
NM_000414.4(HSD17B4):c.1592T>G (p.Leu531Ter)
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs) rs1753560558
NM_000414.4(HSD17B4):c.1708G>T (p.Gly570Ter) rs2126880873
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.187A>T (p.Arg63Ter)
NM_000414.4(HSD17B4):c.1898_1902del (p.Arg633fs)
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter) rs1754083341
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter) rs1754087713
NM_000414.4(HSD17B4):c.1954_1970del (p.Trp652fs) rs2126896587
NM_000414.4(HSD17B4):c.1956G>A (p.Trp652Ter)
NM_000414.4(HSD17B4):c.1986del (p.Lys663fs)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.283_302+2delinsATATAAAAAAAGAAAA
NM_000414.4(HSD17B4):c.293A>G (p.Asn98Ser) rs1392361503
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.302+1G>A rs2126689875
NM_000414.4(HSD17B4):c.343del (p.Asp115fs)
NM_000414.4(HSD17B4):c.363_364del (p.Arg121fs)
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.439del (p.Ile147fs) rs2126702418
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) rs1307944675
NM_000414.4(HSD17B4):c.561dup (p.His188fs)
NM_000414.4(HSD17B4):c.58+1G>C rs1260517680
NM_000414.4(HSD17B4):c.590_597dup (p.Met200fs) rs2126703106
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs) rs2126703227
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.657del (p.Pro220fs) rs2126740125
NM_000414.4(HSD17B4):c.657dup (p.Pro220fs)
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.682G>T (p.Glu228Ter) rs746702458
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
NM_000414.4(HSD17B4):c.718G>T (p.Gly240Ter)
NM_000414.4(HSD17B4):c.728G>A (p.Trp243Ter) rs2126751711
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
NM_000414.4(HSD17B4):c.740T>G (p.Leu247Ter) rs144141837
NM_000414.4(HSD17B4):c.818G>A (p.Trp273Ter)
NM_000414.4(HSD17B4):c.857del (p.Gln286fs)
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.889G>T (p.Glu297Ter)
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter) rs958986994
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter) rs1562200866
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4860+2delinsGGCC rs1562497781
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000440.3(PDE6A):c.2027+5G>T rs794727166
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs) rs2129315801
NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu) rs141158498
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) rs1374999656
NM_000441.2(SLC26A4):c.1149+1G>A
NM_000441.2(SLC26A4):c.1149+1del rs1060499807
NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs) rs2129316898
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln) rs2129316906
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1342-1_1342insCTG rs2129316936
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp) rs2129316944
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg) rs2129317533
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.164+2T>G
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu) rs2129318096
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) rs1476190682
NM_000441.2(SLC26A4):c.1803+1G>C rs2129318119
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1828del (p.Ser610fs) rs2129318234
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter) rs1562839439
NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr) rs2129318278
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) rs121908360
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2028del (p.Arg677fs) rs2129318300
NM_000441.2(SLC26A4):c.2034+1G>T
NM_000441.2(SLC26A4):c.2039del (p.Val680fs) rs2129318784
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) rs1554361584
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) rs1554362735
NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val) rs2129319905
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro) rs1584344549
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter) rs1584344687
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs) rs1792142540
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter)
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) rs2129309202
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.305-1G>A rs1243584839
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) rs1562822565
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.387del (p.Phe130fs) rs2129311265
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.414del (p.Gly139fs)
NM_000441.2(SLC26A4):c.415+2T>C rs2129311282
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu) rs2129311722
NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_000441.2(SLC26A4):c.593_600+8del rs2129311772
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.600+2T>C rs1057516881
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs) rs2129311939
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)
NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup) rs2129311948
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
NM_000441.2(SLC26A4):c.698_701del (p.Val233fs) rs2129311957
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter) rs2129311961
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His) rs2129308726
NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly) rs2129314461
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.917del (p.Val306fs) rs1584317722
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) rs431905486
NM_000445.5(PLEC):c.106_119dup (p.Gly44fs) rs2133006435
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs) rs2116243800
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) rs1585254187
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
NM_000466.3(PEX1):c.1208del (p.Asn403fs) rs1376037318
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del) rs2116220949
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) rs1467651370
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs) rs1164941642
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) rs758402265
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter) rs2116209376
NM_000466.3(PEX1):c.1483+1G>A rs1585244586
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
NM_000466.3(PEX1):c.1671_1672del
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter) rs2116181877
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1727dup (p.Arg577fs) rs1585238595
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter) rs1792186595
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1891del (p.Ala631fs) rs2075434480
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) rs1554372074
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1916dup (p.Asn639fs) rs2116166262
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1955del (p.Val652fs) rs2116165935
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter) rs2116165809
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2039del (p.Pro680fs) rs1269903353
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) rs2116156265
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) rs1792013985
NM_000466.3(PEX1):c.2164del (p.Val723fs) rs1792013807
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) rs786205655
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) rs1791951634
NM_000466.3(PEX1):c.2361del (p.Val788fs)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2416+1G>A
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs) rs1463323645
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2471del (p.Ala824fs) rs1585231093
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
NM_000466.3(PEX1):c.249del (p.Lys83fs) rs1793076317
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) rs2116145324
NM_000466.3(PEX1):c.2550dup (p.Ile851fs) rs2116145117
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer) rs2116132444
NM_000466.3(PEX1):c.269del (p.Gly90fs) rs1275822594
NM_000466.3(PEX1):c.2719-1G>T
NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter) rs2116110975
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+1del
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer) rs1791555145
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2926+1del rs1791544171
NM_000466.3(PEX1):c.2977dup (p.Leu993fs) rs2116091859
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs) rs1562847911
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter) rs2116091512
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) rs1791439311
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs) rs1312351030
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs) rs2116077430
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs) rs2116077400
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs) rs61750430
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) rs1562846113
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3258del (p.Asn1088fs) rs2116059954
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer) rs2116059937
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter) rs2116059303
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter) rs1459743428
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter) rs1793402720
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs) rs727504076
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter) rs1281995042
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3767+2T>C
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.43del (p.Ala15fs)
NM_000466.3(PEX1):c.46del (p.Ala16fs)
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) rs1792878019
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
NM_000466.3(PEX1):c.568del (p.Ser190fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) rs1472300213
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000466.3(PEX1):c.786_787del (p.Glu262fs) rs2116245705
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) rs1792860966
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000466.3(PEX1):c.912dup (p.Val305fs)
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) rs2116244185
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.3(CFTR):c.(1584+1_1585-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(164+1_165-1)_(1584_+1_1585-1)del(2619+1_2620-1)_(2988+1_2989-1)del
NM_000492.3(CFTR):c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.3(CFTR):c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1116+1_1117-1)del(1584+1_1585-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.3(CFTR):c.(2908+1_2909-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.3(CFTR):c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.(3367+1_3368-1)_(3468+1_3469-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
NM_000492.3(CFTR):c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3963+1_3964-1)_(*1_?)del
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
NM_000492.3(CFTR):c.(53+1_54-1)_(489+1_490-1)del
NM_000492.3(CFTR):c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.3(CFTR):c.(?_1)_(53+1_54-1)del
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.13196C>T rs1554398510
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.3(CFTR):c.2989_3139del151 rs1562914028
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3965_3969dup rs1209386423
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.3(CFTR):c.54_164del111 rs1562882675
NM_000492.3(CFTR):c.744-?_1584+?dup
NM_000492.3(CFTR):c.[1075C>A;1079C>A]
NM_000492.3(CFTR):c.[1327G>T;1727G>C;2002C>T]
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
NM_000492.3(CFTR):c.[2735C>T;3731G>T]
NM_000492.3(CFTR):c.[350G>A;1210-12[5]]
NM_000492.3:c.(273+1_274-1)_(1584+1_1585-1)del
NM_000492.3:c.(?_-1)_(*1_?)del
NM_000492.3:c.1585-?_1766+?del
NM_000492.3:c.274-?_1584+?dup
NM_000492.3:c.2989-?_3367+?del
NM_000492.3:c.2989-?_3468+?del
NM_000492.3:c.54-5842_489+401del
NM_000492.3:c.54-?_164+?del
NM_000492.3:c.54_273del
NM_000492.3:c.743+416_1584+2988dup
NM_000492.3:c.870-?_1584+?del
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1008_1019dup (p.Phe337_Ile340dup) rs397508140
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1012_1013del (p.Thr338fs)
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1057C>T (p.Gln353Ter) rs397508148
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter) rs397508150
NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.4(CFTR):c.1078del (p.Thr360fs)
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
NM_000492.4(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs) rs1562892359
NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs) rs387906365
NM_000492.4(CFTR):c.1115del (p.Gln372fs) rs1562892387
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1116+1G>C rs397508158
NM_000492.4(CFTR):c.1116+1G>T rs397508158
NM_000492.4(CFTR):c.1116+2T>A
NM_000492.4(CFTR):c.1116+2T>C
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter) rs1562892823
NM_000492.4(CFTR):c.1130dup (p.Gln378fs) rs397508163
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter) rs2115882158
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.1155T>A (p.Tyr385Ter)
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1162_1168del (p.Thr388fs) rs397508169
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1177del (p.Val392_Val393insTer) rs397508171
NM_000492.4(CFTR):c.1189del (p.Asn396_Val397insTer)
NM_000492.4(CFTR):c.1197del (p.Phe400fs) rs1562892895
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1202G>A (p.Trp401Ter) rs397508174
NM_000492.4(CFTR):c.1203G>A (p.Trp401Ter) rs397508175
NM_000492.4(CFTR):c.1209+1G>A rs397508176
NM_000492.4(CFTR):c.1209+1G>C
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1209+2T>G rs1584790302
NM_000492.4(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.4(CFTR):c.1209G>C (p.Glu403Asp) rs397508177
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.1210-11delinsGTG rs1584793368
NM_000492.4(CFTR):c.1210-11delinsGTGTG
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1210-15_1210-10del rs2115902212
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1210-9_1210-6del rs1805177
NM_000492.4(CFTR):c.1211_1392+1del rs1562894928
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter) rs766063304
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
NM_000492.4(CFTR):c.1224_1227del (p.Phe409fs)
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.4(CFTR):c.1235del (p.Ala412fs) rs397508182
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) rs397508184
NM_000492.4(CFTR):c.1248dup (p.Asn417Ter) rs1584793451
NM_000492.4(CFTR):c.1261dup (p.Thr421fs) rs2115903081
NM_000492.4(CFTR):c.1290del (p.Phe430fs)
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs) rs397508186
NM_000492.4(CFTR):c.1319_1323del (p.Val440fs)
NM_000492.4(CFTR):c.131A>G (p.Asp44Gly) rs1800074
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1324A>T (p.Lys442Ter) rs1584793546
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer) rs397508190
NM_000492.4(CFTR):c.1334del (p.Asn445fs) rs2115903565
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1347_1350del (p.Arg450fs) rs1562895104
NM_000492.4(CFTR):c.1358T>C (p.Leu453Ser) rs1562895128
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter) rs121908805
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.1418del (p.Gly473fs) rs397508205
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1420G>T (p.Glu474Ter) rs756206533
NM_000492.4(CFTR):c.142_145del (p.Asn48fs)
NM_000492.4(CFTR):c.1435G>T (p.Glu479Ter) rs397508207
NM_000492.4(CFTR):c.1446dup (p.Lys483Ter) rs397508209
NM_000492.4(CFTR):c.1464_1476del (p.Cys491fs) rs2115937867
NM_000492.4(CFTR):c.1465_1469del (p.Ser489fs) rs2115937855
NM_000492.4(CFTR):c.1469del (p.Phe490fs) rs775663783
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg) rs397508213
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.147_150del (p.Ser50fs) rs1562882755
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
NM_000492.4(CFTR):c.1486del (p.Trp496fs) rs1584798316
NM_000492.4(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.4(CFTR):c.148T>C (p.Ser50Pro) rs397508217
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs) rs1562898471
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs) rs1301983423
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.154A>T (p.Lys52Ter)
NM_000492.4(CFTR):c.1551C>G (p.Tyr517Ter) rs2115938731
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.156_163dup (p.Arg55fs)
NM_000492.4(CFTR):c.156del (p.Lys52fs) rs1346705436
NM_000492.4(CFTR):c.156dup (p.Leu53fs)
NM_000492.4(CFTR):c.1573C>T (p.Gln525Ter) rs397508227
NM_000492.4(CFTR):c.1573del (p.Gln525fs) rs774433839
NM_000492.4(CFTR):c.1579_1584+11del
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1586_1679+1del rs1562906265
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
NM_000492.4(CFTR):c.15del (p.Leu6fs)
NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter) rs1584810167
NM_000492.4(CFTR):c.1625del (p.Gly542fs) rs2116017718
NM_000492.4(CFTR):c.164+1G>A rs397508243
NM_000492.4(CFTR):c.164+1G>C rs397508243
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.164+2T>C rs121908800
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.164+4dup rs397508244
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) rs397508246
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) rs121908755
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.165-2A>C rs397508250
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.165-2del rs1798467599
NM_000492.4(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1656del (p.Gln552fs) rs397508253
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter) rs397508256
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1674del (p.Ala559fs) rs397508258
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679+1G>C rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-1G>C rs121908794
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680-883A>G rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1680A>T (p.Arg560Ser)
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His) rs121909006
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.4(CFTR):c.1689C>A (p.Tyr563Ter)
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.4(CFTR):c.1707T>A (p.Tyr569Ter) rs397508278
NM_000492.4(CFTR):c.1709T>A (p.Leu570Ter)
NM_000492.4(CFTR):c.1709del (p.Leu570fs)
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) rs397508279
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.1720C>T (p.Pro574Ser) rs397508283
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs) rs1562907232
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.175dup (p.Arg59fs) rs397508294
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1766+2T>C rs1554389062
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1766+5G>A rs121908796
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.4(CFTR):c.1767-683_2619+550delinsCTACATTTGTACTA
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys) rs77284892
NM_000492.4(CFTR):c.1792A>T (p.Lys598Ter) rs397508302
NM_000492.4(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.4(CFTR):c.1807del (p.Val603fs)
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1811del (p.Thr604fs)
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1867dup (p.Ser623fs)
NM_000492.4(CFTR):c.1871_1878del (p.Ser624fs)
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1891dup (p.Ser631fs)
NM_000492.4(CFTR):c.1904del (p.Asn635fs) rs1381239923
NM_000492.4(CFTR):c.1909C>T (p.Gln637Ter) rs397508320
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs) rs1584812217
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
NM_000492.4(CFTR):c.1924_1931del (p.Ser642fs)
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter) rs1562907873
NM_000492.4(CFTR):c.1937del (p.Gly646fs)
NM_000492.4(CFTR):c.1943A>T (p.Asp648Val) rs121909033
NM_000492.4(CFTR):c.1943del (p.Asp648fs) rs1481564133
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
NM_000492.4(CFTR):c.1966G>T (p.Glu656Ter) rs397508323
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1972dup (p.Arg658fs)
NM_000492.4(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter) rs121909045
NM_000492.4(CFTR):c.2012T>A (p.Leu671Ter) rs2116031354
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.4(CFTR):c.2044del (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2044dup (p.Thr682fs) rs1554389346
NM_000492.4(CFTR):c.2045del (p.Thr682fs) rs1584812361
NM_000492.4(CFTR):c.2045dup (p.Gln685fs) rs397508334
NM_000492.4(CFTR):c.2051_2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2053C>T (p.Gln685Ter) rs397508336
NM_000492.4(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.4(CFTR):c.2058_2061dup (p.Lys688delinsPheTer)
NM_000492.4(CFTR):c.2061_2062insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCTTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAACAATCTTTT (p.Lys688delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
NM_000492.4(CFTR):c.2062_2066delinsTTTTTGTTTG (p.Lys688fs)
NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter) rs1584812425
NM_000492.4(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.4(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2089dup (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.4(CFTR):c.2145_2146delinsGT (p.Lys716Ter) rs397508344
NM_000492.4(CFTR):c.2146A>T (p.Lys716Ter) rs121909023
NM_000492.4(CFTR):c.2156T>A (p.Leu719Ter) rs397508345
NM_000492.4(CFTR):c.2158C>T (p.Gln720Ter) rs397508346
NM_000492.4(CFTR):c.2161del (p.Gln720_Met721insTer)
NM_000492.4(CFTR):c.217del (p.Leu73fs) rs397508348
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.4(CFTR):c.2213T>G (p.Leu738Ter)
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2233G>T (p.Gly745Ter) rs397508354
NM_000492.4(CFTR):c.2241_2248del (p.Ile748fs) rs397508355
NM_000492.4(CFTR):c.2249_2256del (p.Pro750fs) rs397508356
NM_000492.4(CFTR):c.2261del (p.Val754fs) rs2116032687
NM_000492.4(CFTR):c.2291del (p.Arg764fs) rs387906376
NM_000492.4(CFTR):c.2299C>T (p.Gln767Ter) rs1584812646
NM_000492.4(CFTR):c.2301del (p.Gln767fs) rs2116032944
NM_000492.4(CFTR):c.2324_2325del (p.His775fs) rs397508364
NM_000492.4(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.4(CFTR):c.2335C>T (p.Gln779Ter) rs2116033063
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
NM_000492.4(CFTR):c.2337del (p.Gly780fs)
NM_000492.4(CFTR):c.233del (p.Phe78fs) rs397508360
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) rs397508368
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.4(CFTR):c.2373del (p.Arg792fs) rs1584812696
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
NM_000492.4(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.4(CFTR):c.2423_2424dup (p.Ser809fs) rs387906359
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.2435dup (p.Leu812fs) rs397508376
NM_000492.4(CFTR):c.2438del (p.Ser813fs)
NM_000492.4(CFTR):c.243del (p.Phe81fs) rs1562884046
NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.4(CFTR):c.2443G>T (p.Glu815Ter) rs672601316
NM_000492.4(CFTR):c.2443del (p.Glu815fs) rs1584812777
NM_000492.4(CFTR):c.2450del (p.Gly817fs) rs1584812778
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs) rs1554389486
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter) rs397508381
NM_000492.4(CFTR):c.2479G>T (p.Glu827Ter) rs121909018
NM_000492.4(CFTR):c.2486T>A (p.Leu829Ter)
NM_000492.4(CFTR):c.2488A>T (p.Lys830Ter) rs397508382
NM_000492.4(CFTR):c.2490+1G>A rs141158996
NM_000492.4(CFTR):c.2490+1G>T rs141158996
NM_000492.4(CFTR):c.2492_2619+1del rs1562908889
NM_000492.4(CFTR):c.2496C>A (p.Cys832Ter) rs397508388
NM_000492.4(CFTR):c.2502del (p.Phe834fs) rs397508389
NM_000492.4(CFTR):c.2502dup (p.Asp835Ter) rs397508389
NM_000492.4(CFTR):c.2508del (p.Asp836fs) rs397508391
NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter) rs267606722
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter) rs1584776437
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.4(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2555del (p.Tyr852fs)
NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter) rs1584813819
NM_000492.4(CFTR):c.2560dup (p.Thr854fs) rs2116039575
NM_000492.4(CFTR):c.2573del (p.Ser858fs) rs1562908997
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.4(CFTR):c.25dup (p.Ala9fs) rs1584764596
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter) rs397508404
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter) rs397508404
NM_000492.4(CFTR):c.2601dup (p.Val868fs) rs397508405
NM_000492.4(CFTR):c.2605del (p.Ile869fs)
NM_000492.4(CFTR):c.2605dup (p.Ile869fs)
NM_000492.4(CFTR):c.2619+2T>C
NM_000492.4(CFTR):c.2620-2A>G rs1554390859
NM_000492.4(CFTR):c.2620-674_3367+232del
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2637_2644del (p.Val880fs)
NM_000492.4(CFTR):c.2639_2640dup (p.Leu881fs) rs1584817344
NM_000492.4(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter) rs397508412
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.4(CFTR):c.264_268del (p.Leu88fs)
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.2658-1G>T rs397508416
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.2700T>A (p.Asn900Lys) rs672601315
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.270del (p.Glu92fs)
NM_000492.4(CFTR):c.271G>A (p.Gly91Arg) rs121908750
NM_000492.4(CFTR):c.273+2T>C
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
NM_000492.4(CFTR):c.274-1G>C rs121908792
NM_000492.4(CFTR):c.274-1G>T rs121908792
NM_000492.4(CFTR):c.274-2A>C rs397508426
NM_000492.4(CFTR):c.274-2A>G rs397508426
NM_000492.4(CFTR):c.274-3397_489+710del
NM_000492.4(CFTR):c.274-5_274-2del rs1584784850
NM_000492.4(CFTR):c.2742T>G (p.Tyr914Ter)
NM_000492.4(CFTR):c.2743_2745delinsA (p.Val915fs)
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2755del (p.Tyr919fs)
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.275_489+1del rs1562889180
NM_000492.4(CFTR):c.275_579+1del
NM_000492.4(CFTR):c.2763_2764dup (p.Val922fs) rs397508431
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.4(CFTR):c.2812dup (p.Val938fs) rs1562911661
NM_000492.4(CFTR):c.2816A>G (p.His939Arg) rs397508440
NM_000492.4(CFTR):c.2818_2831del (p.Thr940fs)
NM_000492.4(CFTR):c.2818dup (p.Thr940fs)
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2825del (p.Ile942fs) rs397508441
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr) rs121909035
NM_000492.4(CFTR):c.2848del (p.His950fs) rs2116062196
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.4(CFTR):c.2856G>T (p.Met952Ile)
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2872C>T (p.Gln958Ter) rs2116062284
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs) rs1562911739
NM_000492.4(CFTR):c.2885C>A (p.Ser962Ter)
NM_000492.4(CFTR):c.2896del (p.Thr966fs) rs397508451
NM_000492.4(CFTR):c.2908+1085_3367+260del
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2908G>C (p.Gly970Arg) rs397508453
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-1G>C rs397508456
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
NM_000492.4(CFTR):c.2911_3367+2del
NM_000492.4(CFTR):c.2919_2920insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTATAGGTGGGATTCTT
NM_000492.4(CFTR):c.2924_2925del (p.Arg975fs) rs1584819340
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter) rs193922514
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.2956del (p.Leu986fs) rs2116069671
NM_000492.4(CFTR):c.2958del (p.Leu987fs)
NM_000492.4(CFTR):c.2959_2960dup (p.Pro988fs) rs2116069700
NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
NM_000492.4(CFTR):c.2988+1G>T rs75096551
NM_000492.4(CFTR):c.2988+2T>C rs1792307406
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2989-313A>T rs1584821306
NM_000492.4(CFTR):c.2989-908_3085delinsGACAG
NM_000492.4(CFTR):c.2989-977_3367+248del
NM_000492.4(CFTR):c.2994del (p.Leu998fs) rs749963273
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.2998del (p.Ile1000fs) rs397508475
NM_000492.4(CFTR):c.2T>A (p.Met1Lys) rs397508476
NM_000492.4(CFTR):c.2T>G (p.Met1Arg) rs397508476
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.300_301del (p.Leu101fs) rs2116669950
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter) rs1562914107
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3068_3072del (p.Ile1023fs) rs397508493
NM_000492.4(CFTR):c.307G>T (p.Gly103Ter) rs1584784895
NM_000492.4(CFTR):c.308del (p.Gly103fs)
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.310del (p.Arg104fs) rs397508499
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter) rs1562914200
NM_000492.4(CFTR):c.3139+1G>A rs397508503
NM_000492.4(CFTR):c.3139+1del rs780546355
NM_000492.4(CFTR):c.313del (p.Ile105fs) rs121908801
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3141_3468+1del
NM_000492.4(CFTR):c.314T>A (p.Ile105Asn) rs397508509
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3161del (p.His1054fs) rs387906377
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs) rs387906366
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs) rs2116084282
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter) rs1562914641
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter) rs397508514
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs) rs1584822237
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.319_326del (p.Ile106_Ala107insTer) rs397508516
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter) rs397508517
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro) rs121909037
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs) rs768963919
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs) rs121908798
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs) rs397508524
NM_000492.4(CFTR):c.3264del (p.Trp1089fs) rs397508525
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter) rs150020260
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer) rs121908798
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter) rs121908761
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA rs1554392248
NM_000492.4(CFTR):c.3287del (p.Leu1096fs) rs397508529
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter) rs397508533
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3294del (p.Trp1098fs) rs397508534
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.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.330C>G (p.Asp110Glu)
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs) rs1562914838
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3367+2T>A rs397508544
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3368-2A>T rs755416052
NM_000492.4(CFTR):c.3382A>T (p.Arg1128Ter) rs397508549
NM_000492.4(CFTR):c.3400_3401delinsGTA (p.Thr1134fs) rs397508552
NM_000492.4(CFTR):c.3404T>A (p.Leu1135Ter) rs1792456313
NM_000492.4(CFTR):c.3407_3422del (p.Ala1136fs)
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del) rs397508557
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs) rs397508559
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3434G>A (p.Trp1145Ter)
NM_000492.4(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.4(CFTR):c.3468+2T>C rs1584824301
NM_000492.4(CFTR):c.3468+5G>A rs1554392801
NM_000492.4(CFTR):c.3468_3468+6delinsATAAAAAGCTTATAAAAAG
NM_000492.4(CFTR):c.3469-2880_3717+2150del
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.4(CFTR):c.3492dup (p.Lys1165Ter) rs387906379
NM_000492.4(CFTR):c.3495del (p.Lys1165fs) rs1057516970
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs) rs121908782
NM_000492.4(CFTR):c.3539_3554del (p.Lys1180fs)
NM_000492.4(CFTR):c.3540del (p.Lys1180fs) rs397508580
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer) rs1792671655
NM_000492.4(CFTR):c.354dup (p.Ile119fs)
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter) rs397508582
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3571dup (p.Met1191fs)
NM_000492.4(CFTR):c.3598_3599delinsG (p.Lys1200fs) rs1584830149
NM_000492.4(CFTR):c.3599_3600delinsG (p.Lys1200fs) rs1584830154
NM_000492.4(CFTR):c.3600del (p.Asp1201fs) rs2116129596
NM_000492.4(CFTR):c.3605del (p.Asp1202fs) rs397508587
NM_000492.4(CFTR):c.3611G>A (p.Trp1204Ter) rs121908764
NM_000492.4(CFTR):c.3617C>A (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.4(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)
NM_000492.4(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.4(CFTR):c.3623dup (p.Gln1209fs)
NM_000492.4(CFTR):c.366T>A (p.Tyr122Ter) rs79660178
NM_000492.4(CFTR):c.3691del (p.Ser1231fs) rs77035409
NM_000492.4(CFTR):c.3697_3698del (p.Ser1233fs)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-1G>A rs387906369
NM_000492.4(CFTR):c.3718-1G>C
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3725del (p.Leu1242fs) rs2116166673
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter) rs1562923164
NM_000492.4(CFTR):c.3730G>A (p.Gly1244Arg) rs397508599
NM_000492.4(CFTR):c.3736del (p.Thr1246fs) rs2116166758
NM_000492.4(CFTR):c.3739G>T (p.Gly1247Ter)
NM_000492.4(CFTR):c.3741_3745dup (p.Gly1249fs) rs2116166806
NM_000492.4(CFTR):c.3743C>G (p.Ser1248Ter)
NM_000492.4(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3761T>G (p.Leu1254Ter) rs397508604
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3767dup (p.Leu1258fs) rs387906370
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3788del (p.Thr1263fs)
NM_000492.4(CFTR):c.3792del (p.Gly1265fs)
NM_000492.4(CFTR):c.3795del (p.Glu1266fs)
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter) rs1584837090
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.4(CFTR):c.3816_3817del (p.Ser1273fs) rs397508612
NM_000492.4(CFTR):c.3822G>A (p.Trp1274Ter) rs397508613
NM_000492.4(CFTR):c.3829del (p.Ser1276_Ile1277insTer) rs397508614
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter) rs1584837173
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.4(CFTR):c.3848G>T (p.Arg1283Met) rs77902683
NM_000492.4(CFTR):c.3857T>C (p.Phe1286Ser) rs121909028
NM_000492.4(CFTR):c.3859G>T (p.Gly1287Ter) rs1792936385
NM_000492.4(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3883_3884insG (p.Ile1295fs) rs1793108213
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3883del (p.Ile1295fs) rs397508630
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3900dup (p.Arg1301Ter) rs1554396393
NM_000492.4(CFTR):c.3907A>C (p.Asn1303His) rs121909042
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
NM_000492.4(CFTR):c.3937C>T (p.Gln1313Ter) rs121909026
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs) rs754392413
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) rs121909010
NM_000492.4(CFTR):c.3963+1G>A rs672601314
NM_000492.4(CFTR):c.3963+2T>A rs397508650
NM_000492.4(CFTR):c.3964-3C>G rs397508652
NM_000492.4(CFTR):c.3964-78_4242+577del
NM_000492.4(CFTR):c.3966_4242+2del rs1562928854
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3972del (p.Arg1325fs) rs1584848754
NM_000492.4(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter) rs375661578
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.4(CFTR):c.3G>A (p.Met1Ile) rs397508657
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs) rs1554397497
NM_000492.4(CFTR):c.4036_4042del (p.Leu1346fs) rs397508662
NM_000492.4(CFTR):c.4036dup (p.Leu1346fs)
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4051A>T (p.Lys1351Ter) rs397508666
NM_000492.4(CFTR):c.4052del (p.Lys1351fs)
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.4(CFTR):c.4071_4073delinsAA (p.Arg1358fs) rs397508667
NM_000492.4(CFTR):c.4071del (p.Arg1358fs) rs1584848901
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.4(CFTR):c.4086dup (p.Lys1363Ter) rs397508669
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.4(CFTR):c.40A>T (p.Lys14Ter) rs397508673
NM_000492.4(CFTR):c.40_44del (p.Lys14fs)
NM_000492.4(CFTR):c.410_416del (p.Leu137fs) rs1584785072
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.4(CFTR):c.4127_4131del (p.Leu1376fs) rs1554397527
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4147dup (p.Ile1383fs) rs397508685
NM_000492.4(CFTR):c.4168C>T (p.Gln1390Ter) rs397508689
NM_000492.4(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4200_4201del (p.Cys1400_Glu1401delinsTer) rs397508695
NM_000492.4(CFTR):c.4201G>T (p.Glu1401Ter) rs397508696
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter) rs397508699
NM_000492.4(CFTR):c.4230C>A (p.Cys1410Ter)
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.4(CFTR):c.4234C>T (p.Gln1412Ter) rs397508702
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4242+2T>C rs193922526
NM_000492.4(CFTR):c.424del (p.Ile142fs) rs387906363
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter) rs397508707
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.4(CFTR):c.429del (p.Phe143fs) rs387906364
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)
NM_000492.4(CFTR):c.4325del (p.Ser1442fs)
NM_000492.4(CFTR):c.4329del (p.Ser1444fs) rs1554397769
NM_000492.4(CFTR):c.433C>G (p.Leu145Val)
NM_000492.4(CFTR):c.433del (p.Leu145fs) rs1562889382
NM_000492.4(CFTR):c.4340del (p.Val1447fs) rs2116226496
NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs) rs2116226651
NM_000492.4(CFTR):c.4392del (p.Ile1464fs) rs1793395260
NM_000492.4(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.4(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg) rs397508718
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.451C>T (p.Gln151Ter) rs397508720
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.459_476del (p.Ala155_Ile160del) rs387906371
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer) rs1554379887
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.4(CFTR):c.483_484insCC (p.Lys162fs) rs1584785196
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.487A>G (p.Lys163Glu) rs1798858347
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.489+1G>A rs78756941
NM_000492.4(CFTR):c.489+2T>C rs397508732
NM_000492.4(CFTR):c.489+2T>G rs397508732
NM_000492.4(CFTR):c.490-1G>T rs397508734
NM_000492.4(CFTR):c.490-2A>G rs397508735
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.4(CFTR):c.494del (p.Thr164_Leu165insTer) rs397508737
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.4del (p.Gln2fs) rs1562876396
NM_000492.4(CFTR):c.503C>G (p.Ser168Ter) rs869249241
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
NM_000492.4(CFTR):c.54-1161_164+1603del
NM_000492.4(CFTR):c.54-1G>T
NM_000492.4(CFTR):c.54-4235_164+377dup
NM_000492.4(CFTR):c.54-5811_164+2186delinsGGGAATTCATTCTTGATTTGCCTCTCTGCTGCCTGTTGTTGGTGTAAACAAAATTCATTTCTTGTTCTTATTTGTGAAATTTTGGAACCAAATCTATTTTCAAATTAGAAATTGCTTGTGATAATGGTTTTGCAACTTAGACTGGATATGAGACGATGAGATATTAGTTCTTTCATTCCTTT
NM_000492.4(CFTR):c.543_546del (p.Leu183fs) rs397508750
NM_000492.4(CFTR):c.544dup (p.Ser182fs) rs1584786454
NM_000492.4(CFTR):c.551_555del (p.Leu184fs)
NM_000492.4(CFTR):c.558del (p.Asn186fs)
NM_000492.4(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.4(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.579+1_579+2insACAT rs2116675185
NM_000492.4(CFTR):c.57G>A (p.Trp19Ter) rs397508762
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580-2A>C rs193922730
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.580G>T (p.Gly194Ter) rs376008630
NM_000492.4(CFTR):c.586dup (p.Ala196fs) rs1584786892
NM_000492.4(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.4(CFTR):c.601del (p.Val201fs) rs397508767
NM_000492.4(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.4(CFTR):c.613C>A (p.Pro205Thr) rs121908803
NM_000492.4(CFTR):c.613_870-1547del
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.668C>T (p.Ala223Val)
NM_000492.4(CFTR):c.671del (p.Phe224fs) rs769693190
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.4(CFTR):c.680T>G (p.Leu227Arg) rs397508782
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer) rs1554380497
NM_000492.4(CFTR):c.71del (p.Ile23_Leu24insTer)
NM_000492.4(CFTR):c.723_743+1del rs121908804
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.744-14_744-3del rs387906367
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.755delinsGCTGGGAAGAT (p.Ala252fs) rs1584787657
NM_000492.4(CFTR):c.761del (p.Lys254fs) rs2116678523
NM_000492.4(CFTR):c.764del (p.Ile255fs)
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.773del (p.Arg258fs) rs397508794
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.79G>T (p.Gly27Ter) rs397508796
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.805_806del (p.Ile269fs) rs121908773
NM_000492.4(CFTR):c.808C>T (p.Gln270Ter) rs1584787716
NM_000492.4(CFTR):c.810del (p.Gln270fs)
NM_000492.4(CFTR):c.811del (p.Ser271fs) rs1554380789
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter) rs397508799
NM_000492.4(CFTR):c.830G>A (p.Trp277Ter) rs672601317
NM_000492.4(CFTR):c.831G>A (p.Trp277Ter) rs2116678722
NM_000492.4(CFTR):c.844G>T (p.Glu282Ter)
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.860dup (p.Asn287fs) rs387906380
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter) rs1584787782
NM_000492.4(CFTR):c.866_870del (p.Arg289fs) rs1562891084
NM_000492.4(CFTR):c.869+1G>T rs1330431481
NM_000492.4(CFTR):c.869+3A>T rs1554380828
NM_000492.4(CFTR):c.870-1113_870-1110del rs397508809
NM_000492.4(CFTR):c.870-12T>A
NM_000492.4(CFTR):c.870-1G>C rs1351058559
NM_000492.4(CFTR):c.874G>T (p.Glu292Ter) rs397508811
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) rs1799022949
NM_000492.4(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.4(CFTR):c.892A>T (p.Lys298Ter) rs1584789180
NM_000492.4(CFTR):c.89dup (p.Arg31fs) rs2116635157
NM_000492.4(CFTR):c.902dup (p.Tyr301Ter)
NM_000492.4(CFTR):c.912C>G (p.Tyr304Ter) rs397508816
NM_000492.4(CFTR):c.922_926del (p.Ser308fs) rs2116683702
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.930del (p.Phe311fs) rs1584789226
NM_000492.4(CFTR):c.933C>A (p.Phe311Leu)
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.948dup (p.Val317fs)
NM_000492.4(CFTR):c.959T>A (p.Leu320Ter) rs397508820
NM_000492.4(CFTR):c.959del (p.Leu320fs) rs1584789267
NM_000492.4(CFTR):c.960dup (p.Ser321fs)
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
NM_000492.4(CFTR):c.987del (p.Gly330fs) rs397508824
NM_000492.4(CFTR):c.9del (p.Arg3fs)
NM_000492.4(CFTR):c.[1210-34TG[12];1210-9_1210-6del]
NM_000492.4(CFTR):c.[1523T>G;3752G>A]
NM_000492.4(CFTR):c.[3469-189_3717+3822del;3469-331_3469-295del]
NM_000492.4(CFTR):c.[3846G>A;3848G>T]
NM_000492.4(CFTR):c.[4C>T;7A>T]
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.4:c.(?_-1)_(*1_?)del
NM_000492.4:c.53+9713_1392+2669del
NM_000506.3(F2):c.1027G>A (p.Glu343Lys) rs121918483
NM_000506.3(F2):c.1139T>C (p.Met380Thr) rs121918481
NM_000506.3(F2):c.1273C>T (p.Arg425Cys) rs121918479
NM_000506.3(F2):c.1785C>G (p.Asp595Glu) rs121918486
NM_000506.3(F2):c.1802G>T (p.Gly601Val) rs121918480
NM_000506.3(F2):c.940C>T (p.Arg314Cys) rs121918477
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
NM_000506.5(F2):c.1088G>A (p.Arg363His)
NM_000506.5(F2):c.1159C>T (p.Gln387Ter) rs2064886777
NM_000506.5(F2):c.1274G>A (p.Arg425His) rs121918485
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) rs202003146
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
NM_000506.5(F2):c.392dup (p.Trp132fs)
NM_000506.5(F2):c.462_463insT (p.Asn155Ter) rs387906522
NM_000506.5(F2):c.923_926del (p.Asp308fs)
NM_000506.5(F2):c.954dup (p.Glu319Ter)
NM_000518.4(HBB):c.-137C>T rs33941377
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000543.4(SMPD1):c.[1343A>G];[1426C>T]
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter) rs2134013121
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
NM_000543.5(SMPD1):c.1054del (p.Glu352fs) rs1847952502
NM_000543.5(SMPD1):c.106dup (p.Val36fs) rs1590735238
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs) rs2134013240
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1101del (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) rs1590743683
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs) rs1847863441
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter) rs1848015403
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1151del (p.Met384fs) rs2134017306
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) rs120074121
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter) rs2134017711
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1296_1297del (p.His432fs) rs1848042860
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter) rs1848043657
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg) rs267607073
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter) rs2134021058
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1486+1G>T
NM_000543.5(SMPD1):c.1487-4_1499del
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer) rs875989834
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn) rs771336819
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
NM_000543.5(SMPD1):c.1576del (p.Ala526fs) rs2134023240
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs) rs1848086376
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter) rs1848088118
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs) rs2134023663
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter) rs943865463
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.193del (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.193dup (p.Ser65fs) rs1057517098
NM_000543.5(SMPD1):c.199dup (p.Gln67fs) rs1847871015
NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs) rs1847871996
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs) rs2134006350
NM_000543.5(SMPD1):c.248del (p.Val83fs)
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter) rs2134006592
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.301del (p.Ile101fs)
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.43del (p.Ser15fs) rs2134004628
NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs) rs2134009391
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.499del (p.Cys167fs) rs1847910379
NM_000543.5(SMPD1):c.504dup (p.His169fs) rs2134009550
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs) rs875989833
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter) rs1428487333
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.564dup (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs) rs875989835
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.572del (p.Pro191fs) rs1590738506
NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer) rs1590738506
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs) rs1847857299
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs) rs2134010245
NM_000543.5(SMPD1):c.581del (p.Pro194fs) rs748165078
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.625del (p.Leu209fs) rs1847921591
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter) rs1847921909
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg) rs1590738910
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser) rs2134010914
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs) rs1847925196
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln) rs200763423
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter) rs200763423
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter) rs120074120
NM_000543.5(SMPD1):c.795del (p.Leu266fs) rs875989832
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.807del (p.Gly270fs)
NM_000543.5(SMPD1):c.820del (p.Met274fs) rs2134011809
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs) rs2134012543
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
NM_000543.5(SMPD1):c.952G>A (p.Val318Met) rs875989837
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000543.5(SMPD1):c.996dup (p.Phe333fs) rs387906289
NM_000553.4(WRN):c.[375A>T;403A>G]
NM_000553.6(WRN):c.1003G>T (p.Glu335Ter)
NM_000553.6(WRN):c.1009_1013del (p.Glu337fs) rs2130118890
NM_000553.6(WRN):c.1012_1018del (p.Val338fs) rs2130118911
NM_000553.6(WRN):c.1016_1017insTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACATGAAGTTTT (p.Leu339delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyPheThrValLeuAlaGlyMetValSerIleSerTer) rs2130118800
NM_000553.6(WRN):c.1054dup (p.Asp352fs) rs2130119420
NM_000553.6(WRN):c.1098dup (p.Val367fs)
NM_000553.6(WRN):c.109A>T (p.Lys37Ter)
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter) rs1563338837
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) rs1563338855
NM_000553.6(WRN):c.1134del (p.Glu379fs)
NM_000553.6(WRN):c.1146del (p.Lys382fs)
NM_000553.6(WRN):c.1157del (p.Asn386fs) rs2130120515
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.1210del (p.Ile404fs) rs2130121219
NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)
NM_000553.6(WRN):c.1225del (p.Ser409fs)
NM_000553.6(WRN):c.1228C>T (p.Gln410Ter) rs1563339055
NM_000553.6(WRN):c.1229dup (p.Glu411fs) rs1563339062
NM_000553.6(WRN):c.1231G>T (p.Glu411Ter) rs2130121425
NM_000553.6(WRN):c.1252del (p.Ala418fs) rs2130121624
NM_000553.6(WRN):c.1290_1293del (p.Asn430fs) rs1389340786
NM_000553.6(WRN):c.1301del (p.Thr434fs) rs2130133359
NM_000553.6(WRN):c.1320del (p.Ser440fs)
NM_000553.6(WRN):c.1321del (p.Asp441fs)
NM_000553.6(WRN):c.1371_1374del (p.Asn457fs) rs2130140311
NM_000553.6(WRN):c.1390_1391del (p.Val464fs)
NM_000553.6(WRN):c.1426del (p.Lys477fs)
NM_000553.6(WRN):c.1442_1443insT (p.Leu482fs) rs2130155211
NM_000553.6(WRN):c.1462G>T (p.Glu488Ter) rs2130155645
NM_000553.6(WRN):c.1472dup (p.His491fs) rs2130155924
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)
NM_000553.6(WRN):c.1486_1489del (p.Lys496fs)
NM_000553.6(WRN):c.1541del (p.Asn514fs)
NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)
NM_000553.6(WRN):c.1593dup (p.Pro532fs)
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.15dup (p.Leu6fs) rs878854133
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter)
NM_000553.6(WRN):c.1629C>G (p.Tyr543Ter) rs2130164025
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.1672_1673insGGAAT (p.His558fs)
NM_000553.6(WRN):c.1674_1677del (p.His558fs) rs749616545
NM_000553.6(WRN):c.1692_1693del (p.Arg565_Asp566insTer)
NM_000553.6(WRN):c.1695del (p.Asp566fs) rs2130171351
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.171del (p.Ser56_Tyr57insTer) rs1812391312
NM_000553.6(WRN):c.1720G>A (p.Gly574Arg)
NM_000553.6(WRN):c.1726G>T (p.Gly576Ter) rs1396973081
NM_000553.6(WRN):c.1730A>T (p.Lys577Met) rs121908448
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)
NM_000553.6(WRN):c.1828A>T (p.Lys610Ter) rs1813725603
NM_000553.6(WRN):c.1862dup (p.Ala622fs) rs2130178691
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter) rs765756226
NM_000553.6(WRN):c.1940del (p.Cys646_Ser647insTer)
NM_000553.6(WRN):c.1993dup (p.Ile665fs) rs1814195192
NM_000553.6(WRN):c.2015_2016del (p.Cys672fs)
NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter) rs1585455586
NM_000553.6(WRN):c.2031del (p.His678fs) rs2130229354
NM_000553.6(WRN):c.2068del (p.Ser689_Leu690insTer) rs2130229956
NM_000553.6(WRN):c.2084_2085insCATTC (p.Met696fs)
NM_000553.6(WRN):c.2089-3024A>G rs281865157
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) rs1383589957
NM_000553.6(WRN):c.2106_2109dup (p.Ala704fs)
NM_000553.6(WRN):c.2106dup (p.Thr703fs) rs2130282820
NM_000553.6(WRN):c.2107dup (p.Thr703fs) rs1554526707
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly) rs761240520
NM_000553.6(WRN):c.214dup (p.Ser72fs)
NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)
NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter) rs1563357741
NM_000553.6(WRN):c.2177_2178dup (p.Cys727fs) rs2130283793
NM_000553.6(WRN):c.2198del (p.Pro733fs)
NM_000553.6(WRN):c.221C>G (p.Ser74Ter)
NM_000553.6(WRN):c.2227del (p.Thr743fs) rs2130284286
NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)
NM_000553.6(WRN):c.2232del (p.Asn745fs) rs2130284409
NM_000553.6(WRN):c.2242C>T (p.Gln748Ter) rs1801328287
NM_000553.6(WRN):c.2269del (p.Thr757fs)
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.22del (p.Thr8fs) rs1812358625
NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter) rs1554527775
NM_000553.6(WRN):c.2345del (p.Gly782fs) rs1585478303
NM_000553.6(WRN):c.2359_2361delinsTT (p.Asn788fs) rs1585478331
NM_000553.6(WRN):c.2359dup (p.Leu787fs) rs1801522729
NM_000553.6(WRN):c.2377del (p.Thr793fs)
NM_000553.6(WRN):c.238G>T (p.Gly80Ter)
NM_000553.6(WRN):c.2390del (p.Gly797fs)
NM_000553.6(WRN):c.2427del (p.Arg809fs) rs2130306151
NM_000553.6(WRN):c.2427dup (p.Phe810fs)
NM_000553.6(WRN):c.2432dup (p.Arg812fs)
NM_000553.6(WRN):c.2443del (p.Ile815fs)
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2488_2498del (p.Lys830fs)
NM_000553.6(WRN):c.2503C>T (p.Gln835Ter) rs2130322156
NM_000553.6(WRN):c.2503del (p.Gln835fs) rs748484883
NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter) rs1585483312
NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs) rs878854136
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter) rs2130322576
NM_000553.6(WRN):c.254G>A (p.Trp85Ter) rs2130032250
NM_000553.6(WRN):c.2555_2562del (p.Ile852fs)
NM_000553.6(WRN):c.255G>A (p.Trp85Ter) rs2130032264
NM_000553.6(WRN):c.2581C>T (p.Gln861Ter)
NM_000553.6(WRN):c.2584del (p.Ser862fs) rs1801678807
NM_000553.6(WRN):c.2594dup (p.His865fs)
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter) rs1554528411
NM_000553.6(WRN):c.2613dup (p.Asp872fs)
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2678T>G (p.Leu893Ter) rs1801846606
NM_000553.6(WRN):c.272del (p.Arg91fs) rs1812611533
NM_000553.6(WRN):c.2741del (p.Leu914fs) rs2130344386
NM_000553.6(WRN):c.2772del (p.Ala925fs)
NM_000553.6(WRN):c.2820del (p.Arg940fs) rs2130344836
NM_000553.6(WRN):c.2858_2859del (p.Glu953fs)
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter) rs1585502089
NM_000553.6(WRN):c.2886del (p.Ala963fs) rs2130376964
NM_000553.6(WRN):c.2894dup (p.Leu966fs) rs2130377037
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs) rs1802222407
NM_000553.6(WRN):c.2974C>T (p.Gln992Ter) rs1802623856
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) rs1563376347
NM_000553.6(WRN):c.3003_3004del (p.His1001fs)
NM_000553.6(WRN):c.3008del (p.Leu1003fs)
NM_000553.6(WRN):c.3008dup (p.Leu1003fs) rs1802626671
NM_000553.6(WRN):c.3020del (p.Gly1007fs)
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) rs748860208
NM_000553.6(WRN):c.3037_3038del (p.Ser1013fs) rs759972548
NM_000553.6(WRN):c.3041G>A (p.Trp1014Ter)
NM_000553.6(WRN):c.3044G>A (p.Trp1015Ter)
NM_000553.6(WRN):c.305T>A (p.Leu102Ter) rs1812613241
NM_000553.6(WRN):c.3085del (p.Leu1028_Val1029insTer)
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter) rs1563376526
NM_000553.6(WRN):c.3123C>A (p.Cys1041Ter) rs773664315
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter) rs2130417119
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)
NM_000553.6(WRN):c.3195del (p.Asn1066fs) rs1802645000
NM_000553.6(WRN):c.31C>T (p.Gln11Ter) rs2130000774
NM_000553.6(WRN):c.3233+2T>C
NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter) rs1288018118
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs) rs770947623
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.327T>A (p.Cys109Ter) rs371538747
NM_000553.6(WRN):c.3288del (p.Glu1097fs) rs2130422216
NM_000553.6(WRN):c.3308del (p.Lys1103fs) rs1802694719
NM_000553.6(WRN):c.3310-1_3369dup rs2130426690
NM_000553.6(WRN):c.3317dup (p.Leu1106fs)
NM_000553.6(WRN):c.3336T>G (p.Tyr1112Ter) rs1802745073
NM_000553.6(WRN):c.3382del (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3384-1G>T rs776963381
NM_000553.6(WRN):c.3384-2A>G
NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter) rs1585521874
NM_000553.6(WRN):c.3403del (p.Glu1135fs)
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3424C>T (p.Gln1142Ter) rs1454512341
NM_000553.6(WRN):c.3442C>T (p.Gln1148Ter)
NM_000553.6(WRN):c.3451G>T (p.Glu1151Ter)
NM_000553.6(WRN):c.3455_3458dup (p.Gln1153fs)
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter) rs121908447
NM_000553.6(WRN):c.3502dup (p.Ala1168fs)
NM_000553.6(WRN):c.3529_3530del (p.Ile1177fs)
NM_000553.6(WRN):c.356-2A>C rs780068269
NM_000553.6(WRN):c.3572+2T>C
NM_000553.6(WRN):c.3573-1_3579dup
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.360dup (p.Pro121fs)
NM_000553.6(WRN):c.3666del (p.Cys1223fs)
NM_000553.6(WRN):c.3676_3679del (p.Asn1226fs) rs1803078438
NM_000553.6(WRN):c.3682del (p.Val1228fs) rs1563382597
NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu) rs369158322
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000553.6(WRN):c.3690_3693del rs606231162
NM_000553.6(WRN):c.3711del (p.Lys1237fs) rs1563385391
NM_000553.6(WRN):c.3726del (p.Lys1243fs) rs2130469991
NM_000553.6(WRN):c.3766del (p.Ser1256fs)
NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter) rs2130470364
NM_000553.6(WRN):c.3769_3770del (p.Gln1257fs)
NM_000553.6(WRN):c.3785_3786del (p.Thr1262fs)
NM_000553.6(WRN):c.3851_3982+449del rs2130480213
NM_000553.6(WRN):c.3852_3853del (p.Met1285fs) rs1803426742
NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)
NM_000553.6(WRN):c.3915dup (p.Ala1306fs) rs587776621
NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter) rs1585536813
NM_000553.6(WRN):c.3937del (p.Gln1313fs)
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.4041dup (p.Ile1348fs) rs2130514507
NM_000553.6(WRN):c.4068dup (p.His1357fs)
NM_000553.6(WRN):c.4077dup (p.Asp1360Ter)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.434G>A (p.Trp145Ter)
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.474dup (p.Val159fs)
NM_000553.6(WRN):c.480_484del (p.Glu160fs) rs2130037261
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.502_503del (p.Lys168fs) rs776785728
NM_000553.6(WRN):c.509_510dup (p.Cys171fs) rs1554519254
NM_000553.6(WRN):c.515_516del (p.Thr172fs) rs1585411632
NM_000553.6(WRN):c.522_523dup (p.Trp175fs) rs1361270203
NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer) rs752830087
NM_000553.6(WRN):c.546del (p.Lys182fs)
NM_000553.6(WRN):c.554T>G (p.Leu185Ter) rs1563331288
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.571A>T (p.Lys191Ter) rs1812737120
NM_000553.6(WRN):c.583dup (p.Ile195fs)
NM_000553.6(WRN):c.600G>A (p.Trp200Ter) rs2130050166
NM_000553.6(WRN):c.648dup (p.Ala217fs) rs1812741645
NM_000553.6(WRN):c.655-1G>A rs2130056280
NM_000553.6(WRN):c.669_693del (p.Ile223fs)
NM_000553.6(WRN):c.724+1G>A rs1339616347
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_000553.6(WRN):c.724G>T (p.Glu242Ter) rs769959338
NM_000553.6(WRN):c.754A>T (p.Lys252Ter) rs751986285
NM_000553.6(WRN):c.755_758del (p.Lys252fs) rs1244318419
NM_000553.6(WRN):c.767C>G (p.Ser256Ter)
NM_000553.6(WRN):c.806del (p.Pro269fs)
NM_000553.6(WRN):c.810dup (p.Ala271fs) rs1813089918
NM_000553.6(WRN):c.856A>T (p.Lys286Ter)
NM_000553.6(WRN):c.859del (p.Asp287fs) rs1585427471
NM_000553.6(WRN):c.867_874del (p.Glu290fs) rs752312589
NM_000553.6(WRN):c.886_890del (p.Arg296fs)
NM_000553.6(WRN):c.903dup (p.Ser302fs)
NM_000553.6(WRN):c.921_922del (p.Glu308fs) rs746445847
NM_000553.6(WRN):c.928_929dup (p.Pro311fs) rs2130117999
NM_000553.6(WRN):c.944T>G (p.Leu315Ter) rs1813280584
NM_000553.6(WRN):c.945_949del (p.Leu315fs) rs2130118163
NM_000553.6(WRN):c.979G>T (p.Gly327Ter) rs1813283817
NM_000553.6(WRN):c.980_983dup (p.Gln329fs) rs1585427710
NM_000553.6(WRN):c.985C>T (p.Gln329Ter) rs1813285283
NM_000553.6(WRN):c.994C>T (p.Gln332Ter)
NM_000553.6(WRN):c.997_1000del (p.Ile333fs)
NM_000554.6(CRX):c.443del (p.Gly148fs) rs1968165374
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.[101-1G>A];[122G>A]
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln) rs121909350
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr) rs121909351
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]
NM_000601.6(HGF):c.482+1986_482+1988del rs1788701297
NM_000601.6(HGF):c.482+1991_482+2000del
NM_000601.6(HGF):c.495G>A (p.Ser165=) rs137853235
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
NM_000760.4(CSF3R):c.1072-1G>A
NM_000760.4(CSF3R):c.1072-1G>C rs992318824
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
NM_000760.4(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
NM_000760.4(CSF3R):c.1245del (p.Thr416fs) rs606231474
NM_000760.4(CSF3R):c.1404del (p.Ser469fs) rs747437399
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) rs1236469336
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) rs757401069
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) rs765536522
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) rs2124152665
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) rs2124127693
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) rs767458386
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) rs1650834725
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) rs1570588220
NM_000760.4(CSF3R):c.948_963del (p.His317fs) rs606231475
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs) rs876657376
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter) rs387907323
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln) rs387907322
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000782.5(CYP24A1):c.641-1G>A
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly) rs72551320
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter) rs72551321
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+1G>C rs587778777
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1185-2A>G rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter) rs2105981050
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg) rs587778780
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter) rs587778782
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) rs587778783
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) rs2105981099
NM_000784.4(CYP27A1):c.1263+1G>T
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter) rs1325218192
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) rs2105981231
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) rs587778787
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser) rs2105981299
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser) rs72551322
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1476+2T>A
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) rs2105981467
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) rs1333458369
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-2A>G rs1559391390
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
NM_000784.4(CYP27A1):c.305del (p.Pro102fs) rs587778790
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter) rs1160640803
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) rs2105978931
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) rs1559392331
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter) rs587778800
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) rs761663976
NM_000784.4(CYP27A1):c.647-1G>A
NM_000784.4(CYP27A1):c.647-1G>T rs587778804
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) rs1943398587
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) rs2105980153
NM_000784.4(CYP27A1):c.73del (p.Ala25fs) rs587778807
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) rs587778808
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) rs1559392634
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs) rs2105980214
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) rs587778810
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter) rs532134925
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.844+1G>T
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.863del (p.Glu288fs) rs587778815
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_000827.4(GRIA1):c.1129C>T (p.Arg377Ter) rs1173036683
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
NM_000859.3(HMGCR):c.1327C>T (p.Arg443Trp)
NM_000859.3(HMGCR):c.1328G>A (p.Arg443Gln)
NM_000859.3(HMGCR):c.1519TCT[1] (p.Ser508del)
NM_000859.3(HMGCR):c.1867G>A (p.Asp623Asn)
NM_000859.3(HMGCR):c.2375A>G (p.Tyr792Cys)
NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)
NM_000859.3(HMGCR):c.365+4A>G
NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg) rs864309654
NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer) rs864309653
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) rs2061464108
NM_001001331.4(ATP2B2):c.941-1G>A
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs) rs1327489348
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001013693.3(LDLRAD2):c.643+518_*1484del
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln) rs1567629943
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs) rs774594582
NM_001013838.3(CARMIL2):c.2536_2548del (p.Leu846fs) rs1567632829
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter) rs1567632864
NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs) rs886041043
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) rs80359864
NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs) rs80359867
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) rs80359868
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017420.3(ESCO2):c.1673+1G>A rs2128957692
NM_001017420.3(ESCO2):c.1674-2A>G rs80359869
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.416_430dup (p.Leu144Ter)
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) rs80359850
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs) rs1554554098
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) rs797045565
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) rs797045566
NM_001017420.3(ESCO2):c.955+2_955+5del rs80359858
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) rs121918245
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) rs1948821736
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer)
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter) rs2108643223
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter)
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs)
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter)
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) rs587783011
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter) rs776023179
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.264-2A>T rs727503969
NM_001023570.4(IQCB1):c.273dup (p.Val92fs) rs1201853761
NM_001023570.4(IQCB1):c.333del (p.Ala112fs) rs786200929
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs) rs1156803164
NM_001023570.4(IQCB1):c.490del (p.Leu164fs) rs2108591614
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter) rs2108571563
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs) rs773848660
NM_001023570.4(IQCB1):c.757del (p.Cys253fs) rs1949313357
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter)
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs)
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) rs1474058708
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) rs1949225959
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) rs772827691
NM_001034852.3(SMOC1):c.367T>C (p.Ser123Pro) rs1114167455
NM_001034852.3(SMOC1):c.378+1G>A rs751356341
NM_001034852.3(SMOC1):c.378+1G>T rs751356341
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter) rs1344296865
NM_001034852.3(SMOC1):c.664+1G>A rs863223317
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter) rs1566709754
NM_001034852.3(SMOC1):c.718C>T (p.Gln240Ter) rs376672665
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His) rs1365818420
NM_001037160.3(CYS1):c.318+5G>A rs1201981092
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.1331+4_1331+7del
NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs) rs2150914115
NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)
NM_001039.4(SCNN1G):c.1570-1G>A rs1596779402
NM_001039.4(SCNN1G):c.1627del (p.Val543fs) rs1596779433
NM_001039.4(SCNN1G):c.318-1G>A rs1567262640
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter) rs371412957
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs) rs1485334519
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) rs768625959
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs) rs2145835560
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser) rs1198256157
NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro) rs387907149
NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg) rs876661405
NM_001039213.4(CEACAM16):c.662-1G>C rs1568528171
NM_001039550.2(DNAJB2):c.0_229+18del
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) rs71647806
NM_001039958.2(MESP2):c.49del (p.Ile17fs)
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) rs113994158
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) rs118204035
NM_001039958.2(MESP2):c.83G>A (p.Trp28Ter)
NM_001040167.2(LFNG):c.216_217del (p.His72fs)
NM_001040167.2(LFNG):c.372del (p.Lys124fs) rs1562551396
NM_001040167.2(LFNG):c.443dup (p.Thr149fs)
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn) rs1211456697
NM_001040616.3(LINS1):c.1219_1222+1del rs587777226
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer) rs587777225
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter) rs868586681
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln) rs587777602
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs) rs1555817157
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter) rs1303044966
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) rs1555813914
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001042472.3(ABHD12):c.601dup (p.Val201fs)
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) rs397704714
NM_001042517.1(DIAPH3):c.-172G>A rs2138511736
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs) rs2050261564
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) rs1307726290
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter) rs267607228
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) rs606231159
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs) rs797044471
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter) rs1382026467
NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)
NM_001042545.2(LTBP4):c.701del (p.Pro234fs) rs606231160
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly) rs267607229
NM_001042702.5(PJVK):c.113dup (p.Lys41fs) rs1559365985
NM_001042702.5(PJVK):c.122del (p.Lys41fs) rs1559366000
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) rs118203988
NM_001042702.5(PJVK):c.726del (p.Phe242fs) rs1559371613
NM_001042702.5(PJVK):c.880C>G (p.His294Asp) rs2154126353
NM_001042702.5(PJVK):c.880del (p.His294fs) rs2154126352
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001042702.5(PJVK):c.950del (p.Phe317fs) rs2154126361
NM_001042702.5(PJVK):c.988del (p.Val330fs) rs1559372640
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter) rs902145121
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter) rs2105900861
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter) rs565778005
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs) rs1957813141
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs) rs756970007
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs) rs2105899220
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001044385.3(TMEM237):c.869+1del rs1311551510
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter) rs768528861
NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp) rs398122976
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609
NM_001048174.2(MUTYH):c.-6-1317_583del
NM_001048174.2(MUTYH):c.-6-95_42delinsC rs1570465624
NM_001048174.2(MUTYH):c.1003_1006dup (p.Arg336fs)
NM_001048174.2(MUTYH):c.1017del (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs) rs768130289
NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs)
NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter) rs745910470
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1102+1G>T rs587781337
NM_001048174.2(MUTYH):c.1102+2T>C rs1644886403
NM_001048174.2(MUTYH):c.1112_1119del (p.Ala371fs)
NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) rs863224501
NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer) rs1570376147
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1160_1167dup (p.Lys390fs) rs2149120039
NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) rs1437789978
NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs)
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) rs1060501321
NM_001048174.2(MUTYH):c.1185del (p.Glu395fs) rs2149119265
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) rs1553125677
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) rs1060501325
NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) rs1553125622
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) rs1064795480
NM_001048174.2(MUTYH):c.1239+1G>A
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) rs1553125243
NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter) rs774968843
NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter) rs769152217
NM_001048174.2(MUTYH):c.127C>T (p.Gln43Ter)
NM_001048174.2(MUTYH):c.1305_1315dup (p.Thr439delinsArgProGlnTer)
NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer)
NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter) rs2149112121
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.136del (p.Glu46fs) rs2149175646
NM_001048174.2(MUTYH):c.1377del (p.Thr460fs) rs146331482
NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) rs876660774
NM_001048174.2(MUTYH):c.1393-51_*2del
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.1425del (p.Thr476fs) rs2149103038
NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln) rs1557451154
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.1435-2A>T rs1553123105
NM_001048174.2(MUTYH):c.148C>T (p.Gln50Ter) rs1645377813
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.184del (p.Asp61_Val62insTer)
NM_001048174.2(MUTYH):c.192dup (p.Val65fs) rs1570443585
NM_001048174.2(MUTYH):c.196dup (p.Thr66fs)
NM_001048174.2(MUTYH):c.1A>G (p.Met1Val) rs1570467133
NM_001048174.2(MUTYH):c.210del (p.Ser71fs) rs1557486313
NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter) rs1553130185
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.228C>G (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.230_242del (p.Asp77fs)
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs) rs878854189
NM_001048174.2(MUTYH):c.274del (p.Glu92fs) rs786203213
NM_001048174.2(MUTYH):c.300T>A (p.Tyr100Ter) rs774798236
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.305-2A>G rs863224452
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs) rs1553129652
NM_001048174.2(MUTYH):c.310del (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.310dup (p.Val104fs) rs1553129676
NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs) rs2149166157
NM_001048174.2(MUTYH):c.337del (p.Gln113fs) rs1553129638
NM_001048174.2(MUTYH):c.359dup (p.Tyr120Ter)
NM_001048174.2(MUTYH):c.364dup (p.Thr122fs) rs2149164805
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter) rs1645261795
NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs) rs2149164388
NM_001048174.2(MUTYH):c.379-1G>C rs1057520660
NM_001048174.2(MUTYH):c.379-2A>G
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter) rs876660787
NM_001048174.2(MUTYH):c.381del (p.Lys127fs) rs1553129349
NM_001048174.2(MUTYH):c.384G>A (p.Trp128Ter) rs2149161607
NM_001048174.2(MUTYH):c.409del (p.Ala137fs) rs2149160869
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) rs1553129062
NM_001048174.2(MUTYH):c.438G>A (p.Trp146Ter) rs1570423722
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) rs1057517457
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) rs1553128813
NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)
NM_001048174.2(MUTYH):c.507del (p.Gly171fs) rs2149152823
NM_001048174.2(MUTYH):c.527del (p.Thr176fs)
NM_001048174.2(MUTYH):c.541C>T (p.Gln181Ter) rs2149151527
NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs) rs1570415363
NM_001048174.2(MUTYH):c.60del (p.Arg22fs) rs1060501336
NM_001048174.2(MUTYH):c.619del (p.Val207fs)
NM_001048174.2(MUTYH):c.627del (p.Asn210fs) rs1645098684
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.632_637delinsCAGCTGCT (p.Val211fs) rs1064793197
NM_001048174.2(MUTYH):c.640del (p.Val214fs)
NM_001048174.2(MUTYH):c.684_702dup (p.Trp235fs) rs2149142768
NM_001048174.2(MUTYH):c.685del (p.Val230fs) rs2149143211
NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter) rs1570406302
NM_001048174.2(MUTYH):c.718C>T (p.Gln240Ter)
NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser) rs587778534
NM_001048174.2(MUTYH):c.764_772del (p.Met255_Gly258delinsArg) rs1645038575
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.775dup (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.779_780del (p.Thr260fs) rs2149138656
NM_001048174.2(MUTYH):c.793C>T (p.Gln265Ter) rs1553127659
NM_001048174.2(MUTYH):c.811C>T (p.Gln271Ter) rs2149137694
NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)
NM_001048174.2(MUTYH):c.879del (p.Ser294fs) rs776362892
NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter) rs558173961
NM_001048174.2(MUTYH):c.890_891insACTAAGCCTCAGGGAGCCTGTCGGG (p.Ser298fs)
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs) rs1645561773
NM_001048174.2(MUTYH):c.914-1G>T rs2149130255
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs) rs2149129901
NM_001048174.2(MUTYH):c.928del (p.Gln310fs)
NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs) rs1553126848
NM_001048174.2(MUTYH):c.955G>T (p.Glu319Ter)
NM_001048174.2(MUTYH):c.960del (p.Trp321fs)
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) rs1060501324
NM_001048174.2(MUTYH):c.993dup (p.Arg332fs)
NM_001048174.2(MUTYH):c.994del (p.Arg332fs) rs1057517456
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
NM_001077365.2(POMT1):c.1091del (p.Leu364fs) rs1947522752
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1204dup (p.His402fs) rs2131749139
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter) rs1191391104
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2131588122
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
NM_001077365.2(POMT1):c.1671del (p.Ile557fs) rs1949626483
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter) rs1945766589
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) rs1945827957
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs) rs1222795311
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
NM_001077365.2(POMT1):c.427+1G>A rs760071332
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
NM_001077365.2(POMT1):c.58dup (p.Val20fs) rs2131554631
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter) rs747129906
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.72del (p.Met25fs) rs2131554917
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs) rs2131672013
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077418.3(TMEM231):c.-37G>A
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+39_139+40del
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-8dup
NM_001077418.3(TMEM231):c.140-9_140-8del
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr) rs903354438
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter) rs2151702587
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079827.2(CLRN2):c.494C>A (p.Thr165Lys) rs1711990645
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn) rs587777278
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) rs1886637325
NM_001080414.4(CCDC88C):c.5058+1G>A rs387907320
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs) rs1567043467
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter) rs369384363
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080476.3(GRXCR1):c.385-2A>G rs771844359
NM_001080476.3(GRXCR1):c.457T>G (p.Phe153Val)
NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter) rs2109775078
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.178dup (p.Glu60fs) rs1382444181
NM_001080510.5(METTL23):c.282_286del (p.Gln94fs) rs587777645
NM_001080510.5(METTL23):c.322+1del
NM_001080510.5(METTL23):c.322+2dup
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter) rs587777646
NM_001080516.2(GRXCR2):c.714dup (p.Gly239fs) rs587777424
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001083961.2(WDR62):c.1175_1200dup (p.Leu401fs)
NM_001083961.2(WDR62):c.1234-1G>A rs2145706114
NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) rs267607177
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter) rs147875659
NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) rs1213710245
NM_001083961.2(WDR62):c.193G>A (p.Val65Met) rs387907084
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs) rs2145516989
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs) rs587784546
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.250dup (p.His84fs) rs1234259290
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter) rs587784549
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter) rs1599841026
NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs) rs1555723585
NM_001083961.2(WDR62):c.332+1G>A rs587784553
NM_001083961.2(WDR62):c.3383_3401del (p.Ser1128fs) rs775357840
NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs) rs2145874989
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)
NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) rs397704725
NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) rs587776900
NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) rs397704721
NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs) rs587776899
NM_001083961.2(WDR62):c.669del (p.Trp224fs) rs1599760058
NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) rs267607176
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser) rs121908856
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr) rs1581262988
NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs) rs1581273254
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) rs1581265715
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu) rs900769357
NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp) rs371608909
NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter) rs777992589
NM_001099287.2(NIPAL4):c.37+5G>C rs1452328130
NM_001099287.2(NIPAL4):c.425+1G>A rs1581269752
NM_001099287.2(NIPAL4):c.426-3del rs1581271844
NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe) rs1581271869
NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg) rs1581272003
NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs) rs1561831443
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu) rs1027052344
NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys) rs1581272834
NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg) rs886060339
NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter) rs373501601
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs) rs1581265561
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) rs1453431411
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala) rs587777797
NM_001101426.4(CRPPA):c.165del (p.Cys56fs) rs1554371369
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs) rs2128321527
NM_001101426.4(CRPPA):c.534+1del
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) rs781097746
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter) rs121912421
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs) rs2101619771
NM_001111.5(ADAR):c.2309del (p.Pro770fs) rs2101589045
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter) rs2101588892
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs) rs1180888940
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.271del (p.Arg91fs)
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser) rs1696974967
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs) rs2101576292
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter)
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
NM_001111.5(ADAR):c.3202+1G>A rs2101565765
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
NM_001111.5(ADAR):c.344del (p.Gly115fs) rs2101644365
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
NM_001111.5(ADAR):c.439del (p.Leu147fs)
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter) rs2101641985
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter) rs2101645916
NM_001111.5(ADAR):c.929dup (p.Ser311fs) rs2101641171
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter) rs1322905273
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) rs766143193
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs) rs1555537637
NM_001124758.3(SPNS2):c.952TCC[1] (p.Ser319del) rs749994718
NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs)
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu) rs2128047712
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.154del (p.Arg52fs)
NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs) rs1926403854
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)
NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)
NM_001127649.3(PEX26):c.230+1G>A
NM_001127649.3(PEX26):c.230+1G>T rs267608190
NM_001127649.3(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
NM_001127649.3(PEX26):c.28del (p.Ala10fs)
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)
NM_001127649.3(PEX26):c.344del (p.Lys115fs)
NM_001127649.3(PEX26):c.34del (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.354del (p.Val120fs) rs1926487809
NM_001127649.3(PEX26):c.354dup (p.Lys119fs)
NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)
NM_001127649.3(PEX26):c.396del (p.Glu133fs)
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)
NM_001127649.3(PEX26):c.443del (p.Pro148fs)
NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter) rs781370363
NM_001127649.3(PEX26):c.613del (p.Gln205fs) rs2123654642
NM_001127649.3(PEX26):c.725_726del (p.Ser242fs)
NM_001127649.3(PEX26):c.73_79del (p.Val25fs)
NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)
NM_001127649.3(PEX26):c.[34dup;669_814+1del]
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) rs2112457636
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) rs1561179853
NM_001127671.2(LIFR):c.2013dup (p.Met672fs) rs1430793861
NM_001127671.2(LIFR):c.2034del (p.Ser679fs)
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter) rs756675225
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)
NM_001127671.2(LIFR):c.2497+1G>A
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter) rs1580117891
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter) rs779829941
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_001127671.2(LIFR):c.703_704del (p.Trp235fs)
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1039del (p.Val347fs)
NM_001128178.3(NPHP1):c.1064_1080del (p.Leu354_Cys355insTer)
NM_001128178.3(NPHP1):c.1084-1G>T rs1458494785
NM_001128178.3(NPHP1):c.1130del (p.Lys377fs) rs772720024
NM_001128178.3(NPHP1):c.1230del (p.Gly411fs)
NM_001128178.3(NPHP1):c.1246_1252del (p.Leu416fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs) rs1553484094
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.1412del (p.Pro471fs) rs1680874514
NM_001128178.3(NPHP1):c.1479dup (p.Leu494fs)
NM_001128178.3(NPHP1):c.1493_1494del (p.Leu498fs) rs2104480049
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.161del (p.Gln54fs)
NM_001128178.3(NPHP1):c.1628_1635del (p.Ser543fs)
NM_001128178.3(NPHP1):c.16C>T (p.Gln6Ter)
NM_001128178.3(NPHP1):c.1725G>A (p.Trp575Ter) rs1679301117
NM_001128178.3(NPHP1):c.172G>T (p.Glu58Ter)
NM_001128178.3(NPHP1):c.1777del (p.Phe592_Leu593insTer)
NM_001128178.3(NPHP1):c.1847dup (p.Phe617fs)
NM_001128178.3(NPHP1):c.1886_1893del (p.Trp629fs)
NM_001128178.3(NPHP1):c.1977del (p.Phe659fs) rs1679148969
NM_001128178.3(NPHP1):c.19C>T (p.Arg7Ter)
NM_001128178.3(NPHP1):c.265_266del (p.Leu89fs)
NM_001128178.3(NPHP1):c.343del (p.Thr115fs)
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.625-1G>A
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.64C>T (p.Gln22Ter)
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.735del (p.His247fs)
NM_001128178.3(NPHP1):c.739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+130A>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.771+77_771+78del rs1682584195
NM_001128178.3(NPHP1):c.77dup (p.Ser26fs)
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_001128178.3(NPHP1):c.812_813insA (p.Pro272fs) rs2104553788
NM_001128178.3(NPHP1):c.843dup (p.Gln282fs)
NM_001128178.3(NPHP1):c.844C>T (p.Gln282Ter) rs1328879943
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
NM_001128178.3(NPHP1):c.937del (p.Asp313fs) rs2104548314
NM_001128178.3(NPHP1):c.995T>G (p.Leu332Ter)
NM_001128178.3(NPHP1):c.998G>A (p.Trp333Ter)
NM_001128228.3(TPRN):c.1427del (p.Pro476fs) rs387906219
NM_001128228.3(TPRN):c.1530del (p.Thr511fs) rs387906222
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) rs387906220
NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) rs1564386891
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
NM_001128425.2(MUTYH):c.177_178insCA (p.Glu60fs) rs2149176927
NM_001128425.2(MUTYH):c.178G>T (p.Glu60Ter) rs1557487793
NM_001128425.2(MUTYH):c.178dup (p.Glu60fs)
NM_001128425.2(MUTYH):c.196del (p.Ala66fs)
NM_001128425.2(MUTYH):c.200del (p.Gly67fs) rs746449748
NM_001128425.2(MUTYH):c.27_28del (p.Ser9fs)
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) rs1064795596
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) rs767402084
NM_001128425.2(MUTYH):c.933_933+1del rs1553127514
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg) rs879253766
NM_001128431.4(SLC39A14):c.1336C>T (p.Pro446Ser) rs1015949817
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys) rs750281602
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val) rs879253763
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter) rs879253764
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter) rs2096226168
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs) rs1554327284
NM_001129.5(AEBP1):c.1470del (p.Asn490fs) rs1554327449
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter) rs2096232673
NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter) rs1563978827
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) rs1573671276
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) rs766936914
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001130987.2(DYSF):c.1449+1G>A rs1553535902
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.147+1G>A rs2082833010
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) rs1236367931
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) rs1456182703
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) rs1559109621
NM_001130987.2(DYSF):c.1577-2A>G rs1553542142
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) rs886043900
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) rs121908960
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) rs1574016452
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) rs202000264
NM_001130987.2(DYSF):c.3497-33A>G rs786205083
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) rs766341386
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) rs1380642629
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) rs778092738
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) rs866823474
NM_001130987.2(DYSF):c.4221+1G>C rs1474151297
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) rs971134497
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) rs1574354515
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) rs1057516051
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5156_5174+4dup rs786205082
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) rs762398889
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) rs121908961
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) rs2095035479
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) rs1558783870
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5621del (p.Met1874fs) rs2152956005
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) rs1573100371
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5785-824C>T rs1285082850
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter) rs2152961374
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) rs1573138336
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) rs1553521017
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) rs1553422723
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) rs1553522104
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) rs1337417322
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.951+1del rs786200898
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs) rs1788833484
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer) rs1787347907
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) rs863225132
NM_001134831.2(AHI1):c.1912+5G>T rs1554347012
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.2(AHI1):c.2036+1G>T rs776093293
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291
NM_001134831.2(AHI1):c.2266+1G>A
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser) rs587777040
NM_001135697.3(SGCA):c.584+521del rs1220674950
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs) rs1203487591
NM_001136035.4(TRMT1):c.1506+1G>T rs1568361011
NM_001136035.4(TRMT1):c.1630C>T (p.Arg544Ter) rs763302328
NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)
NM_001136035.4(TRMT1):c.1834-7C>T
NM_001136035.4(TRMT1):c.312del (p.Lys105fs) rs2019321826
NM_001136035.4(TRMT1):c.458del (p.Gly153fs)
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs) rs746572548
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) rs1285636957
NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) rs1202860455
NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr) rs1977157245
NM_001139.3(ALOX12B):c.1071+1G>C rs1598180319
NM_001139.3(ALOX12B):c.1071+1dup rs1977156997
NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) rs1977105578
NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) rs1977104461
NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) rs1977100621
NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys) rs1977100213
NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly) rs1598178838
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr) rs1977099347
NM_001139.3(ALOX12B):c.1275+30_1275+35del rs1977098048
NM_001139.3(ALOX12B):c.1275+77_1275+105dup rs1977096738
NM_001139.3(ALOX12B):c.1275+78G>A rs1167153704
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) rs137853023
NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) rs1977091512
NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs) rs1978304609
NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) rs1977090006
NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu) rs772257172
NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) rs746723399
NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs) rs746723399
NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro) rs1977081175
NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp) rs774958790
NM_001139.3(ALOX12B):c.1389del (p.Phe463fs) rs387906349
NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) rs1064796312
NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)
NM_001139.3(ALOX12B):c.1533-1G>T rs1977066082
NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys) rs768093512
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro) rs1977062849
NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs) rs745366046
NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) rs1364754878
NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg) rs1977062403
NM_001139.3(ALOX12B):c.1654+1G>A rs1977061578
NM_001139.3(ALOX12B):c.1655-7C>A rs201543289
NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs) rs1977028665
NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) rs1977028854
NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) rs1567980597
NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr) rs1977027733
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) rs137853024
NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly) rs1977027551
NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile) rs1977018643
NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn) rs1977018125
NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) rs780420901
NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr) rs1977016973
NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) rs1977016836
NM_001139.3(ALOX12B):c.1926+2T>G rs1977016035
NM_001139.3(ALOX12B):c.1937dup (p.His647fs) rs1977011690
NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) rs1978297341
NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) rs1977010880
NM_001139.3(ALOX12B):c.1977del (p.Arg660fs) rs1230917852
NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) rs1977009717
NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) rs1977008747
NM_001139.3(ALOX12B):c.2012del (p.Gln671fs) rs1977009324
NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) rs1977009175
NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) rs1977008879
NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His) rs397514528
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) rs397514528
NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter) rs1977008620
NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys) rs1482844053
NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter) rs1977007859
NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs) rs1978297429
NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) rs1977007343
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs) rs1567985261
NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) rs1978296717
NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) rs1978296625
NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter) rs536446862
NM_001139.3(ALOX12B):c.353-1G>A rs1598181810
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs) rs1977208852
NM_001139.3(ALOX12B):c.435-2A>G rs1598181642
NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) rs780867565
NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp) rs147784568
NM_001139.3(ALOX12B):c.527+1G>A rs1356373737
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) rs1978305028
NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs) rs1977196635
NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro) rs1978304974
NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) rs1977185603
NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) rs1977184377
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) rs1233776328
NM_001139.3(ALOX12B):c.771_772del (p.His257fs) rs1977172596
NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) rs1302782570
NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) rs1977171852
NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) rs1308351316
NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs) rs1977170208
NM_001139.3(ALOX12B):c.864del (p.Val289fs) rs1977169495
NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro) rs1977168456
NM_001139.3(ALOX12B):c.928-1G>C rs1977161156
NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs) rs1977160664
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) rs1597422298
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs)
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) rs1896318374
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) rs183258549
NM_001145306.2(CDK6):c.589G>A (p.Ala197Thr) rs606231255
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter) rs119103279
NM_001145809.2(MYH14):c.2299C>A (p.Arg767Ser) rs28940307
NM_001145809.2(MYH14):c.3049C>T (p.Leu1017Phe) rs28940306
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001145809.2(MYH14):c.5990del (p.Thr1997fs) rs2123499275
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001146079.2(CLDN14):c.398del (p.Met133fs) rs786200885
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp) rs387907033
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs) rs2131714597
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs) rs2131714307
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs) rs2131321455
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
NM_001160372.4(TRAPPC9):c.2557-2A>C rs1587520018
NM_001160372.4(TRAPPC9):c.2699+1G>A rs2131922149
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs) rs1174482090
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs) rs1554689877
NM_001161403.3(LIMS2):c.661-2A>C rs766965539
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro) rs869025562
NM_001161404.1(LIMS2):c.[261C>G;275C>T]
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001165967.2(HES7):c.172A>G (p.Ile58Val) rs387906979
NM_001165967.2(HES7):c.400_409dup (p.Arg137fs) rs398122970
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) rs113994160
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?)
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly) rs72653764
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) rs1596687174
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys) rs72653780
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp) rs72653781
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro) rs72653783
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp) rs776513864
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp) rs72653789
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter) rs66492417
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn) rs72653790
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe) rs72653792
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg) rs72653796
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter) rs2046997344
NM_001171.6(ABCC6):c.3306+1del rs797045078
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu) rs63750987
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro) rs60791294
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs) rs1555507927
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe) rs63751325
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln) rs63750414
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro) rs63750414
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His) rs63751111
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg) rs63750018
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser) rs947230593
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) rs387906352
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys) rs72653754
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg) rs78678589
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) rs1569077441
NM_001184.4(ATR):c.2022A>G (p.Gly674=) rs587776690
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) rs587777851
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001190818.1(ORC1):c.2392-249_*3804del
NM_001194998.1(CEP152):c.[3676_3678delAAC;3149T>C]
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) rs754565020
NM_001194998.2(CEP152):c.261+1G>C rs966888627
NM_001194998.2(CEP152):c.2679del (p.Ser894fs) rs587783421
NM_001194998.2(CEP152):c.2694+1G>T rs1349385657
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) rs869312853
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) rs587783423
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG (p.Ile1317delinsGlyAlaAsnIleIleTer)
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) rs1564634581
NM_001195263.2(PDZD7):c.1207del (p.His403fs) rs1554835103
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) rs1554834186
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) rs773193491
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) rs1205407936
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) rs770363653
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) rs760474458
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) rs2141877166
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) rs746057710
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) rs2141870681
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) rs2141872114
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.715del (p.Val239fs) rs2141872348
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) rs2141872499
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.965+1G>A rs1390045914
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) rs2065755770
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001199563.2(BVES):c.578T>G (p.Ile193Ser) rs2114489353
NM_001199563.2(BVES):c.602C>T (p.Ser201Phe) rs869025337
NM_001199563.2(BVES):c.816+2T>C rs1562133291
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter) rs387907015
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
NM_001199799.2(ILDR1):c.294del (p.Val99fs) rs2071591086
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) rs387907017
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) rs1559875009
NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter) rs2107644932
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) rs1553941890
NM_001205254.2(OCLN):c.1037+5G>A rs797045840
NM_001205254.2(OCLN):c.171_193del (p.Lys57fs) rs1561334604
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001205254.2(OCLN):c.512dup (p.Tyr171Ter) rs749237456
NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter) rs1390469424
NM_001205254.2(OCLN):c.52_891del (p.Lys18_Trp297del)
NM_001205254.2(OCLN):c.656T>C (p.Phe219Ser) rs267606926
NM_001206999.2(CIT):c.1111+1G>A rs879255522
NM_001206999.2(CIT):c.29_38del (p.Asn10fs) rs879253817
NM_001206999.2(CIT):c.317G>T (p.Gly106Val) rs886037892
NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) rs886037893
NM_001206999.2(CIT):c.4617del (p.Asp1541fs) rs2137067282
NM_001206999.2(CIT):c.473C>G (p.Pro158Arg) rs879255524
NM_001206999.2(CIT):c.689A>T (p.Asp230Val) rs886037894
NM_001206999.2(CIT):c.753+3A>T rs886037895
NM_001206999.2(CIT):c.957+1G>T rs1968060326
NM_001218.5(CA12):c.363C>A (p.His121Gln) rs775067652
NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs) rs879253800
NM_001242882.2(NAXD):c.102_103del (p.Thr35fs)
NM_001242882.2(NAXD):c.187G>A (p.Gly63Ser) rs1566614549
NM_001242882.2(NAXD):c.318C>G (p.Ile106Met) rs201720770
NM_001242882.2(NAXD):c.44del (p.Arg15fs) rs1886017689
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile) rs1886017898
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs) rs773887880
NM_001242882.2(NAXD):c.839+1G>T rs1566623786
NM_001242908.2(RSPO1):c.-288-413_94+1957del
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9) rs2148163144
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup rs966546165
NM_001254.4(CDC6):c.968C>G (p.Thr323Arg) rs387906842
NM_001256317.3(TMPRSS3):c.1048+1G>A rs1429442821
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs) rs2146452391
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly) rs387906915
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter) rs2052672053
NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter) rs1060499811
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs) rs2146436212
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter)
NM_001257308.2(MINAR2):c.393G>T (p.Lys131Asn)
NM_001257308.2(MINAR2):c.412_419del (p.Arg138fs)
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs) rs2154134687
NM_001267550.2(TTN):c.103749del (p.Lys34583fs) rs1689787372
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter) rs2154134221
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105520del (p.Arg35174fs) rs1688921542
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter) rs922408768
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106541del (p.Asp35514fs) rs2154131647
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107224-1G>C rs112720067
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.2370+2T>C rs1574817395
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs) rs1373610867
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.35756del (p.Pro11919fs) rs1241310204
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.40409-2A>C rs1560046529
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.41118del (p.Phe13706fs) rs878854305
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter) rs2154209202
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) rs1576402791
NM_001267550.2(TTN):c.51436+1G>T rs761807131
NM_001267550.2(TTN):c.51436+2T>C
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54190+1G>T
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter) rs72646837
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59926+1G>C
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)
NM_001267550.2(TTN):c.64397-2del
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs) rs2154174801
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter) rs1559446852
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77646del (p.Ile25883fs) rs2154167034
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs) rs794729346
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter)
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) rs72648222
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs) rs2154159327
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+1G>A rs1702741860
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs) rs2154153413
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.89197+2T>G rs1575536935
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001267550.2(TTN):c.93088del (p.Arg31030fs) rs2154147488
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val) rs1553520967
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97492+1G>T rs727505319
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp)
NM_001267727.2(ARSG):c.1212+1G>A
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys) rs751663413
NM_001267727.2(ARSG):c.1326del (p.Ser443fs) rs751461705
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr) rs1568445893
NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)
NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)
NM_001267727.2(ARSG):c.705-3940_982+2952del
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter) rs1183090232
NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile) rs1335486803
NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs) rs2108279740
NM_001271838.2(RSRC1):c.532-1G>A rs754550509
NM_001278064.1(GRM1):c.[2652_2654delGAA;2660+2T>C]
NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe) rs988699004
NM_001278064.2(GRM1):c.1715del (p.Asn572fs)
NM_001278064.2(GRM1):c.26dup (p.Ala11fs) rs758809498
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
NM_001278293.3(ARL6):c.185+1G>C rs1559679965
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
NM_001278293.3(ARL6):c.1A>G (p.Met1Val) rs2107977736
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter) rs2037147164
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs) rs1057515576
NM_001278293.3(ARL6):c.373dup (p.Ile125fs) rs2037541934
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_001278293.3(ARL6):c.506del (p.Gly169fs) rs1402463567
NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp) rs104893681
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys) rs2037751886
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn) rs2037752645
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs) rs1601133145
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs) rs2145411193
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs) rs2145411302
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs) rs2145411399
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter) rs2145411479
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter) rs1367858373
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) rs2090639016
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp) rs398123051
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr) rs398123052
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs) rs2145427564
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) rs2090682958
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met) rs398123048
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs) rs2090684427
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter) rs2145430921
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs) rs2145431569
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
NM_001283009.2(RTEL1):c.2387del (p.Val796fs) rs2145432198
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) rs2090722556
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) rs1278121916
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter) rs2145434954
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs) rs2145439154
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter) rs2090784564
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs) rs2145445706
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) rs2090792717
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs) rs2090805858
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter) rs777109448
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs) rs2145471381
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter) rs929898540
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) rs2090933372
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs) rs2146150691
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs) rs2145477500
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs) rs1363124795
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) rs2090027846
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs) rs2145480213
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs) rs2145480909
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs) rs764058481
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter) rs2145480992
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs) rs2146153920
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter) rs2146141455
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) rs2090043175
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs) rs2146141304
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs) rs2146197831
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del) rs760676508
NM_001286445.3(RIPOR2):c.189-1G>A rs875989828
NM_001287.6(CLCN7):c.1617+119G>A rs922106856
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter) rs121434432
NM_001287.6(CLCN7):c.2250+1G>T rs1567263375
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln) rs121434433
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro) rs121434434
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs) rs2142364275
NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe) rs121434436
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
NM_001288951.1(TTC7A):c.[1616C>T];[2587G>A]
NM_001288953.1(TTC7A):c.[1715A>G;1912T>C]
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs) rs2134009776
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter) rs1853463147
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs) rs2134088808
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs) rs1416960576
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu) rs397514607
NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) rs1603251001
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) rs2143821228
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs) rs2140706563
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs) rs1232900431
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter) rs1301378192
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs) rs2140844892
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs) rs2140873534
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) rs2040187420
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs) rs2140875258
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs) rs2140886312
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs) rs2140887842
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter) rs2140372917
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs) rs2141193077
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs) rs2141202895
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs) rs762932867
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.411-1371G>A rs2038350104
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs) rs2141430525
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter) rs2140098022
NM_001329943.3(KIAA0586):c.4495+3755del rs2140128017
NM_001329943.3(KIAA0586):c.4495+3767A>T rs2140128191
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs) rs2140565674
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) rs376338487
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs) rs2140664007
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
NM_001329943.3(KIAA0586):c.961+1G>A
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp) rs2152811529
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) rs2152811539
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr) rs777067201
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg) rs2152756968
NM_001351059.2(TCIRG1):c.-262_-237del rs2134438856
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter) rs2135879026
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs) rs1374334296
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)
NM_001351132.2(PEX5):c.1426del (p.Leu476fs)
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs) rs2136243209
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs) rs1731078730
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter) rs2136254746
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1607del (p.Asn536fs)
NM_001351132.2(PEX5):c.30del (p.Glu10fs)
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter) rs1941140792
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)
NM_001351132.2(PEX5):c.472del (p.Arg158fs) rs2136074154
NM_001351132.2(PEX5):c.478del (p.Ala160fs)
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs) rs2136075415
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)
NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs) rs2136151586
NM_001351132.2(PEX5):c.677dup (p.Val227fs) rs796051881
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)
NM_001351132.2(PEX5):c.808dup (p.Leu270fs) rs2136158689
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)
NM_001351132.2(PEX5):c.88del (p.Leu30fs)
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
NM_001353108.3(CEP63):c.129G>A (p.Trp43Ter) rs1164567042
NM_001353108.3(CEP63):c.490C>T (p.Gln164Ter)
NM_001362931.2(GDAP1):c.694+932_694+1314del
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs) rs397514486
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) rs2057189303
NM_001366722.1(GRIP1):c.2269+1G>C rs397514485
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr) rs387907062
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs) rs1484586294
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter) rs1906110243
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter) rs387907063
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs) rs1597210953
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs) rs2142314304
NM_001370524.1(TMIE):c.-507_-66-2329del
NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)
NM_001371279.1(REEP1):c.248del (p.Gly83fs) rs2104244539
NM_001371279.1(REEP1):c.303+1_303+7delinsAC rs869320621
NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu) rs387906893
NM_001371596.2(MFSD8):c.699-1G>A rs1739594685
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro) rs1582046125
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val) rs1561853847
NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro) rs1407871103
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter) rs1561864453
NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu) rs1582078740
NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg) rs1582081682
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del) rs1582086407
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)
NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp) rs1231123861
NM_001376256.1(CRYM):c.941A>C (p.Lys314Thr) rs104894512
NM_001376256.1(CRYM):c.945A>T (p.Ter315Tyr) rs104894509
NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter)
NM_001378454.1(ALMS1):c.10120_10121del (p.Ser3374fs)
NM_001378454.1(ALMS1):c.10125del (p.Asp3375fs) rs2104057987
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter)
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.10247del (p.Ala3416fs) rs2104063719
NM_001378454.1(ALMS1):c.10332del (p.Glu3446fs)
NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs)
NM_001378454.1(ALMS1):c.10385-2A>G rs1255779642
NM_001378454.1(ALMS1):c.10421del (p.Arg3474fs) rs2104103586
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs) rs1674946144
NM_001378454.1(ALMS1):c.10507_10510del (p.Lys3503fs)
NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511fs) rs2104104085
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs) rs2104104189
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10591_10594del (p.Pro3531fs)
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs) rs2104104427
NM_001378454.1(ALMS1):c.10652dup (p.Asn3551fs)
NM_001378454.1(ALMS1):c.10668del (p.Asn3556fs) rs2104104628
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer) rs1372103295
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs) rs1573030204
NM_001378454.1(ALMS1):c.10698_10702del (p.Val3567fs)
NM_001378454.1(ALMS1):c.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG (p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro) rs2104105041
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs) rs2104105065
NM_001378454.1(ALMS1):c.10782_10792del (p.Thr3595fs)
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter) rs2104105305
NM_001378454.1(ALMS1):c.10833del (p.Gln3611fs)
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter) rs756345976
NM_001378454.1(ALMS1):c.10838_10839del (p.Arg3613fs)
NM_001378454.1(ALMS1):c.10860del (p.Glu3622fs)
NM_001378454.1(ALMS1):c.10876del (p.Val3626fs)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10909C>T (p.Gln3637Ter)
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs) rs1572914641
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter) rs397514576
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter) rs1674968936
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)
NM_001378454.1(ALMS1):c.11037dup (p.Lys3680Ter) rs2104106303
NM_001378454.1(ALMS1):c.11041del (p.Ser3681fs)
NM_001378454.1(ALMS1):c.11054_11055del (p.Ser3685fs)
NM_001378454.1(ALMS1):c.11076del (p.Ser3695fs)
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter) rs747747269
NM_001378454.1(ALMS1):c.11110_11128del (p.Gly3704fs) rs2104106546
NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs) rs1674975219
NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter)
NM_001378454.1(ALMS1):c.11198del (p.Thr3733fs)
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.1132_1135dup (p.Asn379fs)
NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter)
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.1139_1140dup (p.Ala381Ter)
NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter)
NM_001378454.1(ALMS1):c.11411del (p.Arg3804fs) rs1263250868
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs) rs2104108070
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11499_11502dup (p.His3835fs)
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs) rs1675623302
NM_001378454.1(ALMS1):c.11577dup (p.Ile3860fs) rs2104188795
NM_001378454.1(ALMS1):c.115del (p.Asp39fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs) rs2104188943
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs) rs1573052379
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs)
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11682del (p.Ile3894fs)
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter) rs1290800821
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs) rs1573053412
NM_001378454.1(ALMS1):c.11725_11726del (p.Phe3909fs)
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs)
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter) rs1318520999
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs) rs1675665426
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11846_11849del (p.Lys3949fs) rs765718672
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs) rs765718672
NM_001378454.1(ALMS1):c.11853del (p.Asn3951fs)
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs) rs2104194220
NM_001378454.1(ALMS1):c.11873-1G>C rs2104195295
NM_001378454.1(ALMS1):c.11873-2A>T rs786205527
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs) rs758732551
NM_001378454.1(ALMS1):c.11878dup (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11882G>A (p.Trp3961Ter) rs1332287946
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer) rs2104195495
NM_001378454.1(ALMS1):c.11960G>A (p.Trp3987Ter)
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter) rs1553421725
NM_001378454.1(ALMS1):c.1201del (p.Glu401fs)
NM_001378454.1(ALMS1):c.12020del (p.Gln4007fs)
NM_001378454.1(ALMS1):c.12040_12041del (p.Arg4014fs)
NM_001378454.1(ALMS1):c.12044del (p.Gly4015fs) rs1675682743
NM_001378454.1(ALMS1):c.12059del (p.Pro4020fs) rs2104196326
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter) rs1248541208
NM_001378454.1(ALMS1):c.12111dup (p.Gln4038fs) rs1675685953
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter) rs1675708936
NM_001378454.1(ALMS1):c.12151dup (p.Arg4051fs)
NM_001378454.1(ALMS1):c.12175del (p.Arg4058_Leu4059insTer)
NM_001378454.1(ALMS1):c.12199A>T (p.Lys4067Ter)
NM_001378454.1(ALMS1):c.12215T>A (p.Leu4072Ter)
NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter)
NM_001378454.1(ALMS1):c.12259C>T (p.Gln4087Ter)
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs) rs1675739925
NM_001378454.1(ALMS1):c.12340del (p.Glu4114fs) rs2104202909
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter) rs1174712970
NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter)
NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter)
NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter)
NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter) rs2103720460
NM_001378454.1(ALMS1):c.1335_1338del (p.Arg445fs) rs2103720605
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter) rs2103734325
NM_001378454.1(ALMS1):c.1349_1350del (p.Glu450fs)
NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter)
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter) rs2103734375
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs)
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs) rs1558642193
NM_001378454.1(ALMS1):c.1413del (p.Pro472fs) rs2103734574
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter) rs2103771067
NM_001378454.1(ALMS1):c.1466_1469del (p.Thr489fs) rs2103771168
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter) rs2103771218
NM_001378454.1(ALMS1):c.149del (p.Ala50fs) rs2104058704
NM_001378454.1(ALMS1):c.1518del (p.Ile506fs)
NM_001378454.1(ALMS1):c.1549del (p.Leu517fs)
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)
NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter)
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1625T>G (p.Leu542Ter)
NM_001378454.1(ALMS1):c.1673del (p.Pro558fs)
NM_001378454.1(ALMS1):c.168dup (p.Asp57fs) rs1269948810
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter) rs756389027
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter) rs2103772104
NM_001378454.1(ALMS1):c.1785dup (p.Glu596Ter)
NM_001378454.1(ALMS1):c.1786del (p.Glu596fs)
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter) rs1553403321
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter) rs2103772444
NM_001378454.1(ALMS1):c.1850dup (p.Thr618fs)
NM_001378454.1(ALMS1):c.1876_1879del (p.Glu626fs)
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs) rs2103772743
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter)
NM_001378454.1(ALMS1):c.1969C>T (p.Gln657Ter)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter) rs1169223296
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter) rs190439406
NM_001378454.1(ALMS1):c.2064_2065dup (p.Thr689fs) rs2103773428
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs) rs1671856137
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter) rs752875933
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter)
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter) rs757131983
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter)
NM_001378454.1(ALMS1):c.2158_2161del (p.Glu720fs)
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs) rs1671859372
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter)
NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter) rs757152182
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs) rs2103774323
NM_001378454.1(ALMS1):c.2231C>G (p.Ser744Ter)
NM_001378454.1(ALMS1):c.2239_3050dup (p.Trp1017delinsCysLeuAspGlnLeuThrArgArgLeuArgTyrGlnGlnTyrSerLeuValLeuThrHisLysGluLysSerLeuValPheCysThrHisArgThrTer)
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs) rs1572932377
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs) rs1671863469
NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter)
NM_001378454.1(ALMS1):c.2314_2315del (p.Ile772fs) rs2103774725
NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs) rs1271517550
NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter)
NM_001378454.1(ALMS1):c.2434_2435dup (p.Arg814fs)
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter)
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter) rs201853697
NM_001378454.1(ALMS1):c.2483del (p.Ser828fs)
NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter)
NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter) rs2103775505
NM_001378454.1(ALMS1):c.2519_2525del (p.Val840fs)
NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter) rs201154998
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.2652dup (p.Leu885fs)
NM_001378454.1(ALMS1):c.2658dup (p.Val887fs)
NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter)
NM_001378454.1(ALMS1):c.2687del (p.Gln896fs) rs2103776149
NM_001378454.1(ALMS1):c.2705C>G (p.Ser902Ter)
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs) rs1671876151
NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs)
NM_001378454.1(ALMS1):c.2752del (p.Ser918fs)
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter) rs1322100078
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter) rs1572933082
NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter)
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter)
NM_001378454.1(ALMS1):c.2882del (p.Ser961fs) rs2103776873
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter) rs761177629
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs) rs1671880064
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378454.1(ALMS1):c.2935_2936del (p.Leu979fs) rs2103777026
NM_001378454.1(ALMS1):c.2941dup (p.Met981fs)
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter) rs1553403585
NM_001378454.1(ALMS1):c.2963del (p.Thr988fs)
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter) rs1254495717
NM_001378454.1(ALMS1):c.2994_2997del (p.Pro999fs) rs766323360
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter) rs1359874667
NM_001378454.1(ALMS1):c.3012del (p.His1005fs) rs2103777336
NM_001378454.1(ALMS1):c.3019_3022del (p.Glu1007fs)
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs) rs1671883188
NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter) rs1671883598
NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs) rs2103777482
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter) rs2103777652
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs) rs1671885188
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter) rs1671885850
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter) rs1671886193
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs)
NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter)
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs) rs1553403653
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs) rs1553403653
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter) rs1671890891
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3340_3341del (p.His1115fs)
NM_001378454.1(ALMS1):c.3375_3376del (p.Ala1126fs) rs2103778657
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter) rs780622565
NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter) rs2103778961
NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter) rs1671017057
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs) rs1671897788
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs) rs2103779248
NM_001378454.1(ALMS1):c.3557_3564del (p.Arg1186fs) rs2103779399
NM_001378454.1(ALMS1):c.3567_3586del (p.Thr1190fs)
NM_001378454.1(ALMS1):c.358_361del (p.Ile120fs)
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter)
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3862_3863insTAT (p.Gln1288delinsLeuTer)
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter) rs369314182
NM_001378454.1(ALMS1):c.3872_3875dup (p.Pro1293fs)
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter)
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter) rs769219669
NM_001378454.1(ALMS1):c.3903_4072del (p.Leu1301fs) rs2103780610
NM_001378454.1(ALMS1):c.3918_3921del (p.Thr1307fs)
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs) rs2103780806
NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter)
NM_001378454.1(ALMS1):c.4010_4011del (p.Thr1337fs) rs2103780952
NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs)
NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter)
NM_001378454.1(ALMS1):c.4039del (p.Val1347fs) rs2103781095
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs) rs2103781518
NM_001378454.1(ALMS1):c.4179_4180inv (p.Gln1394Ter)
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter) rs2103781864
NM_001378454.1(ALMS1):c.4221dup (p.Val1408fs) rs2103781901
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter) rs2103782122
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4335_4336del (p.His1445fs)
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4411_4412del (p.Val1471fs) rs2103782701
NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs) rs1553403917
NM_001378454.1(ALMS1):c.4662_4663delinsAT (p.Gly1555Ter)
NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter)
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs)
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter) rs2103783763
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs) rs2103783797
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs) rs758098717
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs) rs1439452693
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter) rs774594040
NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter)
NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter)
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5021del (p.Phe1674fs)
NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter)
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer) rs1671941012
NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter) rs750136202
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
NM_001378454.1(ALMS1):c.5215del (p.Ser1739fs) rs1195572987
NM_001378454.1(ALMS1):c.5260dup (p.Val1754fs)
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter)
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter) rs758678450
NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter)
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter) rs2103786025
NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter)
NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs)
NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter)
NM_001378454.1(ALMS1):c.539_542dup (p.Asp181fs)
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs) rs1671951264
NM_001378454.1(ALMS1):c.5430_5431del (p.Lys1811fs)
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter) rs1671239143
NM_001378454.1(ALMS1):c.5501del (p.Pro1834fs)
NM_001378454.1(ALMS1):c.554_555del (p.Thr185fs)
NM_001378454.1(ALMS1):c.5571dup (p.Val1858fs)
NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter)
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter) rs769440001
NM_001378454.1(ALMS1):c.5606_5612del (p.Thr1869fs)
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs) rs1439541639
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.564del (p.Ser189fs)
NM_001378454.1(ALMS1):c.5655_6063del (p.Lys1885_Thr1886insTer) rs2103787249
NM_001378454.1(ALMS1):c.5698_5701del (p.Glu1900fs) rs1558650438
NM_001378454.1(ALMS1):c.5706del (p.Ser1903fs)
NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter) rs765553310
NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter)
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs) rs763048583
NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter)
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs) rs2103787540
NM_001378454.1(ALMS1):c.5787del (p.Lys1930fs)
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter) rs1574423697
NM_001378454.1(ALMS1):c.5821dup (p.Tyr1941fs) rs2103787808
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter)
NM_001378454.1(ALMS1):c.5826dup (p.Arg1943fs)
NM_001378454.1(ALMS1):c.5853_5854del (p.Gln1952fs) rs2103787916
NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter)
NM_001378454.1(ALMS1):c.586del (p.Thr196fs) rs2103701730
NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter)
NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter) rs1671240457
NM_001378454.1(ALMS1):c.5902dup (p.Ser1968fs)
NM_001378454.1(ALMS1):c.5915del (p.Ile1972fs)
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter) rs533606326
NM_001378454.1(ALMS1):c.5951dup (p.Ser1985fs)
NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter)
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter) rs1671971419
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs) rs1671971721
NM_001378454.1(ALMS1):c.6163_6164dup (p.Asn2055fs) rs2103789120
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs) rs1671974033
NM_001378454.1(ALMS1):c.622_623del (p.Asp208fs)
NM_001378454.1(ALMS1):c.6263del (p.Pro2088fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs)
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
NM_001378454.1(ALMS1):c.6343dup (p.Thr2115fs)
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs) rs1553404220
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs) rs2103701996
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs) rs1553404233
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter) rs2103790206
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs) rs2103790479
NM_001378454.1(ALMS1):c.6538G>T (p.Gly2180Ter)
NM_001378454.1(ALMS1):c.6560del (p.Gly2187fs)
NM_001378454.1(ALMS1):c.6566dup (p.Tyr2189Ter)
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer) rs2103790992
NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs) rs2103791069
NM_001378454.1(ALMS1):c.6688dup (p.Arg2230fs) rs2103791083
NM_001378454.1(ALMS1):c.6690_6691del (p.Arg2230fs)
NM_001378454.1(ALMS1):c.6703A>T (p.Lys2235Ter)
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6813dup (p.Met2272fs) rs1671989236
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6839del (p.Pro2280fs)
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter) rs747355678
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6918del (p.Ser2307fs) rs2103791934
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter)
NM_001378454.1(ALMS1):c.7001dup (p.Asp2335fs)
NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter)
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs) rs1553404395
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe) rs768751472
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter)
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter)
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter) rs1558651680
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs) rs2103793713
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter) rs1285425883
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter) rs373586405
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.74_75insGGAGTA (p.Glu26_Glu27insTerGlu) rs1574423810
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter) rs1315351235
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter) rs1572939837
NM_001378454.1(ALMS1):c.7624del (p.Glu2542fs)
NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter) rs1200012970
NM_001378454.1(ALMS1):c.7674+1G>A rs1417025395
NM_001378454.1(ALMS1):c.7674+1G>T rs1417025395
NM_001378454.1(ALMS1):c.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT (p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle) rs2103889249
NM_001378454.1(ALMS1):c.7751del (p.Lys2584fs)
NM_001378454.1(ALMS1):c.7769dup (p.Thr2591fs)
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)
NM_001378454.1(ALMS1):c.7864dup (p.Cys2622fs) rs2103889832
NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter)
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs) rs1307785790
NM_001378454.1(ALMS1):c.7948del (p.Ser2650fs)
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter)
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8072del (p.Pro2691fs)
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs) rs2103890652
NM_001378454.1(ALMS1):c.8129del (p.Lys2710fs)
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8153C>A (p.Ser2718Ter)
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs) rs2103890894
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter)
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs) rs748621056
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs) rs2103891188
NM_001378454.1(ALMS1):c.8295dup (p.Gln2766fs)
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001378454.1(ALMS1):c.8343del (p.Asp2782fs)
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358dup (p.Ile2787fs)
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8440_8443del (p.Arg2814fs)
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter) rs2103891827
NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter) rs1672957185
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs) rs2103892422
NM_001378454.1(ALMS1):c.8630_8631insG (p.Ser2878fs) rs2103892558
NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter)
NM_001378454.1(ALMS1):c.8668dup (p.Gln2890fs)
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs) rs2103714765
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter) rs1188328539
NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter)
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter) rs765908556
NM_001378454.1(ALMS1):c.8769dup (p.Leu2924fs) rs2103893216
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs) rs1672964092
NM_001378454.1(ALMS1):c.8856_8860del (p.Gln2953fs) rs2103893595
NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA (p.Asp2954fs) rs2103893636
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)
NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter) rs2103894102
NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter) rs200930613
NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter)
NM_001378454.1(ALMS1):c.9083_9084del (p.Cys3028fs)
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs) rs1425609364
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs) rs1672976991
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter) rs1434010689
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs) rs1572970628
NM_001378454.1(ALMS1):c.9268_9269dup (p.Ser3091fs) rs2103895390
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter) rs1558667813
NM_001378454.1(ALMS1):c.9340_9341del (p.Leu3114fs) rs2103895650
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter) rs2103895712
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter) rs1314034889
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs) rs1558667882
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs) rs878855003
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter) rs917667192
NM_001378454.1(ALMS1):c.9474dup (p.Gln3159fs)
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.9540-2A>G
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs) rs2103961819
NM_001378454.1(ALMS1):c.9549del (p.Lys3184fs)
NM_001378454.1(ALMS1):c.9619_9620del (p.Glu3207fs)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs) rs1273296127
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer) rs1671343808
NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter)
NM_001378454.1(ALMS1):c.9760_9764dup (p.Phe3255fs)
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter)
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs) rs1573000963
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter) rs1573000972
NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter)
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter) rs1673996095
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_001378454.1(ALMS1):c.9957_9958dup (p.Arg3320fs)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378454.1(ALMS1):c.9981_9987dup (p.Ile3330delinsCysTer)
NM_001378454.1(ALMS1):c.9996_9997del (p.His3332fs)
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter) rs2138034575
NM_001378609.3(OTOGL):c.6122-1G>A rs952235302
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter) rs1343148883
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg) rs762998472
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001378615.1(CC2D2A):c.3772-1G>T rs863225172
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs) rs1577396376
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4437+1G>A rs786205568
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter) rs1553845300
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg) rs762679102
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
NM_001378789.1(CERS3):c.609+1G>T rs587776996
NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter) rs1567644030
NM_001379180.1(ESRRB):c.1081_1087dup (p.Val363fs)
NM_001379180.1(ESRRB):c.1087G>T (p.Val363Leu) rs121909111
NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val) rs121909110
NM_001379180.1(ESRRB):c.562G>A (p.Gly188Arg) rs1555342141
NM_001379180.1(ESRRB):c.608G>A (p.Arg203His) rs1060499794
NM_001379180.1(ESRRB):c.850G>A (p.Gly284Ser) rs375916159
NM_001379286.1(ZNF423):c.1542del (p.Asn515fs) rs1596763347
NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr) rs1596988259
NM_001382391.1(CSPP1):c.-56del
NM_001382391.1(CSPP1):c.-69C>T rs1294428066
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) rs374703898
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) rs886044058
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln) rs760205035
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs) rs1818317027
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs) rs752908017
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter) rs756752153
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
NM_001382391.1(CSPP1):c.1698-1G>C rs2129554176
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs) rs1409618249
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs) rs1021950925
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) rs1821344202
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs) rs1189289587
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter) rs1201375699
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter) rs1825358020
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs) rs1827098991
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs) rs1375090095
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) rs761382780
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs) rs863225191
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs) rs863225191
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) rs755739341
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs) rs1554604482
NM_001382391.1(CSPP1):c.2538+1G>T rs2129560295
NM_001382391.1(CSPP1):c.2540del (p.His847fs) rs1563720581
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs) rs2129543529
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) rs537456518
NM_001382391.1(CSPP1):c.2829-9_2968+11del rs1554614893
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) rs200881715
NM_001382391.1(CSPP1):c.3220+1G>A rs773954226
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) rs1206214608
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) rs2129575958
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) rs1175214174
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs) rs1371078806
NM_001382391.1(CSPP1):c.430del (p.Arg144fs) rs863225192
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) rs587777146
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
NM_001382391.1(CSPP1):c.923+1G>C rs863225194
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.1441-1G>T rs2133801703
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.158-1G>A rs876657418
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1797C>A (p.Cys599Ter)
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs) rs2094144598
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter) rs2092876200
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
NM_001384140.1(PCDH15):c.2756del (p.Met919fs) rs2134904455
NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2843_2847dup (p.Ala950fs) rs2134901685
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter) rs1589156388
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs) rs2079481708
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3718-2A>G rs1307471318
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3984-6A>G rs2077015569
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1217C>T rs1056396947
NM_001384140.1(PCDH15):c.4671+1349_4671+1353dup
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer) rs2135421905
NM_001384140.1(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) rs777587826
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter) rs548893604
NM_001384474.1(LOXHD1):c.3351-1G>A rs868646051
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter) rs184966970
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter) rs2036157162
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs) rs1599083635
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg) rs768835732
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) rs1442485603
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs) rs878853231
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs) rs2143422217
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter) rs886043441
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
NM_001386125.1(OBSCN):c.24822C>A (p.Tyr8274Ter)
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) rs1726269709
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_001386140.1(MTTP):c.708_709del (p.His236fs) rs1553926818
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
NM_001386678.1(ACAT1):c.120+2267_120+2268del
NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)
NM_001393500.2(TOMT):c.214T>C (p.Trp72Arg) rs137853186
NM_001393500.2(TOMT):c.234C>G (p.Tyr78Ter) rs137853188
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs) rs797044907
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter) rs373613946
NM_001395413.1(POR):c.1466T>A (p.Val489Glu) rs28931606
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys) rs121912975
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) rs786205876
NM_001395413.1(POR):c.559_571dup (p.Arg191fs) rs786205878
NM_001395413.1(POR):c.722+1G>A rs786205099
NM_001510.3(GRID2):c.530-12057_735+24661del36924
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter) rs1732687174
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp) rs606231457
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln) rs606231456
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) rs104894547
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) rs28999111
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) rs104894544
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu) rs104894546
NM_001614.5(ACTG1):c.830C>T (p.Thr277Ile) rs2143775764
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) rs1060505037
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs) rs782549406
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) rs1680484812
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.33dup (p.Leu12fs) rs1679840748
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) rs1553415274
NM_001692.4(ATP6V1B1):c.687+1G>T
NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) rs121964879
NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter) rs2104831698
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro) rs1060505031
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.890-1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001814.6(CTSC):c.[1211delA;190_191insA]
NM_001814.6(CTSC):c.[716A>G;757+1G>A]
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) rs1553950635
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002160.4(TNC):c.5247A>T (p.Gly1749=)
NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser) rs431905513
NM_002161.6(IARS1):c.1109T>G (p.Val370Gly) rs886037876
NM_002161.6(IARS1):c.1310C>T (p.Pro437Leu) rs886037874
NM_002161.6(IARS1):c.1667T>C (p.Phe556Ser) rs1554728327
NM_002161.6(IARS1):c.2974A>G (p.Asn992Asp) rs886037877
NM_002161.6(IARS1):c.3521T>A (p.Ile1174Asn) rs886037873
NM_002161.6(IARS1):c.632del (p.Pro211fs)
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu) rs137852670
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs) rs1594445698
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs) rs780692442
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs) rs777570288
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) rs879253865
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala) rs2154008651
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) rs556292818
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del) rs1594453111
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs) rs1311146809
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg) rs1483165002
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter) rs773543257
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter) rs755468547
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) rs1189538200
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
NM_002180.3(IGHMBP2):c.2611+1G>A rs786205090
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs) rs2154009273
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) rs1131691657
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter) rs1015531394
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
NM_002180.3(IGHMBP2):c.449+1G>A rs797044802
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs) rs2154006724
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706
NM_002180.3(IGHMBP2):c.673del (p.Val225fs) rs1858438320
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs) rs2154006948
NM_002180.3(IGHMBP2):c.711+1G>A
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs) rs2154007211
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs) rs1594427564
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) rs863224880
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter) rs1580817729
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs) rs2140979845
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser) rs2141000225
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys) rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp) rs867073471
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
NM_002230.4(JUP):c.1455_1462del (p.Val486fs) rs1597801392
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) rs797046139
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter) rs2143456924
NM_002230.4(JUP):c.1807del (p.Val603fs) rs1597782553
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter) rs2143426682
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
NM_002230.4(JUP):c.188del (p.Gln63fs) rs1555606936
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter) rs2143416425
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter) rs2143697976
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.532_542del (p.Ala178fs) rs2143683612
NM_002230.4(JUP):c.545C>A (p.Ser182Ter) rs145592971
NM_002230.4(JUP):c.654del (p.Leu219fs) rs2143680611
NM_002230.4(JUP):c.687del (p.Ala230fs)
NM_002230.4(JUP):c.71C>A (p.Ser24Ter) rs782460555
NM_002230.4(JUP):c.781_796del (p.Lys261fs) rs2143651415
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_002292.3(LAMB2):c.1037_1038del rs1170845795
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) rs121912490
NM_002292.4(LAMB2):c.1241_1242dup (p.Met415fs) rs1367444910
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002292.4(LAMB2):c.1405+1G>A
NM_002292.4(LAMB2):c.1934dup (p.Gly646fs) rs750538204
NM_002292.4(LAMB2):c.2018+2T>C
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) rs121912489
NM_002292.4(LAMB2):c.2249dup (p.His750fs)
NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)
NM_002292.4(LAMB2):c.2884+1del
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs) rs1560072794
NM_002292.4(LAMB2):c.3094C>T (p.Arg1032Ter)
NM_002292.4(LAMB2):c.3218del (p.Gly1073fs)
NM_002292.4(LAMB2):c.3251G>A (p.Trp1084Ter)
NM_002292.4(LAMB2):c.3328-1G>C
NM_002292.4(LAMB2):c.3477_3483del (p.Gly1160fs) rs1357326383
NM_002292.4(LAMB2):c.3517dup (p.Cys1173fs)
NM_002292.4(LAMB2):c.3690_3697del (p.Ser1230fs)
NM_002292.4(LAMB2):c.3882_3892del (p.Asn1294fs) rs2045374891
NM_002292.4(LAMB2):c.4198_4199del (p.Leu1400fs)
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs) rs2045352880
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) rs1553776921
NM_002292.4(LAMB2):c.4806_4807del (p.Lys1603fs)
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) rs1560063136
NM_002292.4(LAMB2):c.752_756dup (p.His253fs)
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) rs121908666
NM_002335.4(LRP5):c.1468del (p.Asp490fs) rs1554967141
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter) rs545508982
NM_002335.4(LRP5):c.1584+1G>A rs1554967176
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) rs397514663
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) rs121908662
NM_002335.4(LRP5):c.2305del (p.Asp769fs) rs1554971145
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) rs121908663
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) rs121908660
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) rs80358319
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) rs80358305
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) rs149645175
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs) rs2126745614
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs) rs2126745648
NM_002454.3(MTRR):c.109dup (p.Cys37fs) rs1747853230
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) rs772547714
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) rs1737110583
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) rs1561245416
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) rs1579758005
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs) rs2126772123
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter) rs1440404360
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1476del (p.Trp492fs) rs2126793645
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter) rs1737852706
NM_002454.3(MTRR):c.1612dup (p.Ile538fs) rs757800887
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
NM_002454.3(MTRR):c.1652dup (p.Phe552fs) rs2126808162
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_002454.3(MTRR):c.1728del (p.Leu576fs) rs2126812977
NM_002454.3(MTRR):c.227del (p.Ile76fs)
NM_002454.3(MTRR):c.228dup (p.Gln77fs) rs2126663415
NM_002454.3(MTRR):c.263del (p.His88fs)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.290del (p.Gly97fs)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.340del (p.Arg114fs) rs2126675629
NM_002454.3(MTRR):c.354_358del (p.Gly119fs) rs2126675707
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
NM_002454.3(MTRR):c.718_719del (p.Leu240fs) rs1207820860
NM_002454.3(MTRR):c.734del (p.Leu245fs) rs1734927527
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.754del (p.Val252fs)
NM_002454.3(MTRR):c.815del (p.Pro272fs) rs2126727585
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
NM_002454.3(MTRR):c.901del (p.Ser301fs)
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
NM_002470.4(MYH3):c.1141+131_3256del
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) rs1567564042
NM_002470.4(MYH3):c.2045C>A (p.Pro682Gln) rs2142402072
NM_002470.4(MYH3):c.2103G>C (p.Glu701Asp) rs2142401800
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser) rs2142400070
NM_002470.4(MYH3):c.4647+1G>A rs1567552713
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002485.4(NBN):c.897-?_2184+?del
NM_002485.4(NBN):c.[1030C>T];[842T>G]
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter) rs1810856747
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs) rs1554560432
NM_002485.5(NBN):c.1044del (p.Asp349fs)
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1071dup (p.Val358fs) rs2129745554
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer) rs2129745511
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1107dup (p.Glu370fs) rs2129744712
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGA (p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer) rs2129925072
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1146del (p.Glu383fs) rs1586059584
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter) rs772909239
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
NM_002485.5(NBN):c.115C>T (p.Gln39Ter) rs377730553
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.1165dup (p.Met389fs) rs2129721709
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter) rs2129721628
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter) rs1554559308
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter) rs1554559308
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter) rs2129721263
NM_002485.5(NBN):c.1203_1206dup (p.Val403fs) rs1810667631
NM_002485.5(NBN):c.1203del (p.Thr402fs)
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
NM_002485.5(NBN):c.1225del (p.Thr409fs) rs2129720423
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) rs2129720196
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter) rs1554559212
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1314del (p.Ser438fs)
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter) rs1554559094
NM_002485.5(NBN):c.1332dup (p.Arg445Ter) rs1586058444
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1362dup (p.Ile455fs) rs2129717307
NM_002485.5(NBN):c.1366del (p.Arg456fs) rs1554559038
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)
NM_002485.5(NBN):c.1377dup (p.Gln460fs) rs1554559028
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter) rs1563530658
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.1405del (p.Asp469fs) rs2129704309
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter) rs755805461
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs) rs864622333
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)
NM_002485.5(NBN):c.143T>G (p.Leu48Ter) rs2129924518
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs) rs1586054483
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs) rs1586054483
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1488_1491dup (p.Pro498fs)
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.14_23del (p.Leu5fs) rs2129938178
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter) rs876658535
NM_002485.5(NBN):c.1523dup (p.Ser509fs) rs1586054199
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter) rs1060503480
NM_002485.5(NBN):c.1554del (p.Asp519fs) rs2129701175
NM_002485.5(NBN):c.1554dup (p.Asp519fs) rs1554558423
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter) rs2129700612
NM_002485.5(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer) rs2129699105
NM_002485.5(NBN):c.1644dup (p.Lys549Ter) rs2129699596
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) rs1810540992
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.5(NBN):c.1675dup (p.Glu559fs) rs1563525678
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter) rs1586053399
NM_002485.5(NBN):c.1693_1694del (p.Gln565fs)
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs) rs1279184426
NM_002485.5(NBN):c.1697dup (p.Leu566fs) rs1586053378
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer) rs1810527499
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1726del (p.Ile576fs)
NM_002485.5(NBN):c.1737del (p.Val580fs) rs1563525210
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1747dup (p.Gln583fs) rs1810529464
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter) rs1554558270
NM_002485.5(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAAGGCC (p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer) rs2129696816
NM_002485.5(NBN):c.177_180del (p.Thr60fs)
NM_002485.5(NBN):c.1780del (p.Arg594fs) rs1586052920
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) rs1586052851
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter) rs1554558199
NM_002485.5(NBN):c.183del (p.Asp61fs) rs587782147
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter) rs766602873
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.5(NBN):c.1860del (p.Ile620fs) rs1810270891
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter) rs1810267412
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter) rs2129659855
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.1912del (p.Ser638fs)
NM_002485.5(NBN):c.1923dup (p.Lys642fs)
NM_002485.5(NBN):c.1939del (p.Ser647fs) rs2129648967
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter) rs1810183784
NM_002485.5(NBN):c.1986_2001del (p.Val663fs) rs2129647483
NM_002485.5(NBN):c.1992dup (p.Lys665Ter) rs2129647777
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter) rs1554556544
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs) rs1057516852
NM_002485.5(NBN):c.2007del (p.Arg670fs)
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs) rs1036111786
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter) rs1554556485
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter) rs786203920
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter) rs2130763590
NM_002485.5(NBN):c.205_212del (p.Lys69fs) rs2129915884
NM_002485.5(NBN):c.2069del (p.Lys690fs)
NM_002485.5(NBN):c.2071del rs2130756322
NM_002485.5(NBN):c.2077dup (p.Tyr693fs)
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter) rs1554555835
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter) rs1038132485
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs) rs2129915990
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs) rs2130756068
NM_002485.5(NBN):c.2097_2098insA (p.Pro700fs)
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
NM_002485.5(NBN):c.2099del (p.Pro700fs) rs1301956720
NM_002485.5(NBN):c.2102del (p.His701fs) rs1810038215
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.210_211dup (p.Asn71fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.5(NBN):c.2139_2140delinsCT (p.Arg714Ter)
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs) rs1810034093
NM_002485.5(NBN):c.2140del (p.Arg714fs) rs1810034741
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs) rs1810033651
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
NM_002485.5(NBN):c.2152del (p.Glu718fs)
NM_002485.5(NBN):c.2156_2157insTT (p.Leu719_Glu720insTer)
NM_002485.5(NBN):c.2156dup (p.Glu720fs) rs1586035111
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter) rs786204181
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer) rs2130755275
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter) rs1810030774
NM_002485.5(NBN):c.217A>T (p.Lys73Ter) rs2129915767
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter) rs1554554267
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter) rs1563581193
NM_002485.5(NBN):c.226dup (p.Thr76fs) rs1554568340
NM_002485.5(NBN):c.228_231dup (p.Val78fs) rs2129915522
NM_002485.5(NBN):c.231dup (p.Val78fs) rs1586108827
NM_002485.5(NBN):c.241G>T (p.Glu81Ter) rs1064795037
NM_002485.5(NBN):c.247dup (p.Met83fs)
NM_002485.5(NBN):c.250C>T (p.Gln84Ter) rs1586108714
NM_002485.5(NBN):c.269del (p.Thr90fs)
NM_002485.5(NBN):c.26del (p.Gly9fs) rs1060503485
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.278C>A (p.Ser93Ter) rs12721593
NM_002485.5(NBN):c.283del (p.Asp95fs) rs2129914556
NM_002485.5(NBN):c.292dup (p.Thr98fs)
NM_002485.5(NBN):c.298G>T (p.Gly100Ter) rs2129914287
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.330dup (p.Glu111Ter) rs2129910887
NM_002485.5(NBN):c.335del (p.Pro112fs) rs2129910740
NM_002485.5(NBN):c.352del (p.Ser118fs) rs2129910401
NM_002485.5(NBN):c.353del (p.Ser118fs)
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) rs1563579387
NM_002485.5(NBN):c.377del (p.Thr126fs) rs1554567972
NM_002485.5(NBN):c.38-12A>G rs773524364
NM_002485.5(NBN):c.383T>G (p.Leu128Ter) rs1060503463
NM_002485.5(NBN):c.393_400del (p.Ile132fs) rs2129909528
NM_002485.5(NBN):c.407dup (p.Gly137fs) rs747462107
NM_002485.5(NBN):c.429G>A (p.Trp143Ter) rs1812023981
NM_002485.5(NBN):c.436G>T (p.Glu146Ter) rs1812023357
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.448del (p.Val151fs) rs1563578727
NM_002485.5(NBN):c.468del (p.Val157fs) rs1563578596
NM_002485.5(NBN):c.46_49del (p.Tyr16fs) rs1812139426
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.481-2A>C rs751567476
NM_002485.5(NBN):c.481-2A>G rs751567476
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter) rs2129926091
NM_002485.5(NBN):c.48_49del (p.Tyr16_Arg17delinsTer)
NM_002485.5(NBN):c.492dup (p.Leu165fs) rs1586101609
NM_002485.5(NBN):c.496_512del (p.Ile166fs) rs758830069
NM_002485.5(NBN):c.499dup (p.Cys167fs) rs1586101561
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.520_521insT (p.Pro174fs) rs2129889298
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.548del (p.Ala183fs)
NM_002485.5(NBN):c.552_556del (p.Glu185fs) rs2129888420
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.565C>T (p.Gln189Ter) rs1198614767
NM_002485.5(NBN):c.565del (p.Gln189fs) rs1811864250
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer) rs876659305
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.580del (p.Glu194fs)
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.5G>A (p.Trp2Ter) rs1812244679
NM_002485.5(NBN):c.604G>T (p.Glu202Ter) rs1811506628
NM_002485.5(NBN):c.626del (p.Asn209fs) rs2129838943
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTATATATAAAATATAATAAAGAAAACATTATATA (p.Lys223delinsIleTyrIlePheIleIleTer)
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.68del (p.Glu23fs)
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.6G>A (p.Trp2Ter) rs876661130
NM_002485.5(NBN):c.700C>T (p.Gln234Ter)
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATTGAGTTCCG (p.Ala241delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaLysLysLysLysLysLysLysArgAsnTer)
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.742G>T (p.Glu248Ter) rs1811464271
NM_002485.5(NBN):c.742dup (p.Glu248fs)
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.765_801del (p.Asn256fs) rs2129829309
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter) rs2129829803
NM_002485.5(NBN):c.78dup (p.Gly27fs)
NM_002485.5(NBN):c.794dup (p.Pro266fs)
NM_002485.5(NBN):c.800dup (p.Thr268fs) rs1554563955
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.830del (p.Asn277fs)
NM_002485.5(NBN):c.832_835del (p.Ser278fs)
NM_002485.5(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.5(NBN):c.836del (p.Gln279fs) rs1554563878
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.848del (p.Pro283fs) rs2129827996
NM_002485.5(NBN):c.851_854del (p.Asp284fs) rs2129827880
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)
NM_002485.5(NBN):c.857dup (p.Lys287fs)
NM_002485.5(NBN):c.864del (p.Lys288fs)
NM_002485.5(NBN):c.871C>T (p.Gln291Ter) rs1554563822
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer) rs1811450828
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.911del (p.Pro304fs) rs1563549036
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.93_96dup (p.Ile33fs) rs2129925355
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter) rs748453607
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter) rs748453607
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer) rs1811144443
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.5(NBN):c.979_980del (p.Gly327fs)
NM_002485.5(NBN):c.992_994+3del rs1563548315
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002617.4(PEX10):c.120del (p.Lys41fs)
NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)
NM_002617.4(PEX10):c.1A>C (p.Met1Leu)
NM_002617.4(PEX10):c.1A>T (p.Met1Leu) rs886041314
NM_002617.4(PEX10):c.211del (p.Glu71fs)
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.247del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.26dup (p.Glu10fs) rs1553232917
NM_002617.4(PEX10):c.28dup (p.Glu10fs) rs1643275394
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer) rs1643093232
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.337del (p.Leu113fs) rs724159999
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.363del (p.Asp122fs)
NM_002617.4(PEX10):c.387del (p.Ser130fs) rs2100429148
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.417_418del (p.Arg142fs)
NM_002617.4(PEX10):c.430_439del (p.Trp144fs) rs2100428812
NM_002617.4(PEX10):c.450del (p.Thr151fs)
NM_002617.4(PEX10):c.458_461del (p.Thr153fs)
NM_002617.4(PEX10):c.475del (p.Ala159fs) rs2100428583
NM_002617.4(PEX10):c.486_496del (p.Ala163fs) rs2100428385
NM_002617.4(PEX10):c.496del (p.Val166fs) rs770937339
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.504_507del (p.Gln169fs) rs2100428321
NM_002617.4(PEX10):c.506_507del (p.Gln169fs) rs1643083325
NM_002617.4(PEX10):c.509del (p.Gly170fs)
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551_555del (p.Ile184fs)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.601-14del rs1643028060
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-39del
NM_002617.4(PEX10):c.601-3C>T rs369643163
NM_002617.4(PEX10):c.601-3_601-2del rs1643027426
NM_002617.4(PEX10):c.601-4dup rs2100423250
NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
NM_002617.4(PEX10):c.640del (p.Arg214fs)
NM_002617.4(PEX10):c.664del (p.Val222fs)
NM_002617.4(PEX10):c.664dup (p.Val222fs) rs1357189926
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.708_709dup (p.Tyr237fs)
NM_002617.4(PEX10):c.727C>T (p.Gln243Ter) rs2100422652
NM_002617.4(PEX10):c.735_738del (p.Lys247fs)
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.747G>A (p.Trp249Ter) rs2100422532
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser) rs1414973726
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.832dup (p.Glu278fs)
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.858_870del (p.Pro287fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.870C>G (p.His290Gln) rs61752095
NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)
NM_002617.4(PEX10):c.887del (p.Cys296fs)
NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)
NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4:c.13_28delinsCCGCCAGCACCTGCGCCGCC
NM_002618.4(PEX13):c.107_120del (p.Gly36fs) rs2104803129
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
NM_002618.4(PEX13):c.148del (p.Arg50fs)
NM_002618.4(PEX13):c.159_160del (p.Pro54fs) rs2104803205
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
NM_002618.4(PEX13):c.27del (p.Lys10fs)
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
NM_002618.4(PEX13):c.431del (p.Ser144fs)
NM_002618.4(PEX13):c.499del (p.His167fs) rs2104803491
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)
NM_002618.4(PEX13):c.829dup (p.Ala277fs) rs2104812709
NM_002618.4(PEX13):c.855del (p.Val286fs)
NM_002618.4(PEX13):c.871del (p.Ile291fs)
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) rs61752113
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp) rs2097595072
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro) rs2097597579
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) rs121918045
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002700.3(POU4F3):c.184del (p.Ala62fs) rs1760419273
NM_002700.3(POU4F3):c.37del (p.His13fs)
NM_002700.3(POU4F3):c.502del (p.Ala168fs) rs766631025
NM_002700.3(POU4F3):c.54del (p.Glu18fs) rs2126960889
NM_002700.3(POU4F3):c.564dup (p.Ala189fs)
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) rs1064792854
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) rs121909057
NM_002700.3(POU4F3):c.66del (p.Ser23fs) rs2126960899
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter) rs2126961780
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) rs121909056
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) rs398124631
NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter) rs2126961983
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) rs398123070
NM_002788.4(PSMA3):c.404+2T>C rs1555352516
NM_002788.4(PSMA3):c.697_699del (p.Arg233del) rs1555353410
NM_002796.3(PSMB4):c.44dup (p.Pro16fs) rs1235715459
NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del) rs1553209362
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter) rs1553209373
NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser) rs2058265858
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) rs104894281
NM_002855.5(NECTIN1):c.556del (p.Glu186fs) rs876657374
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) rs878853255
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu) rs1657873534
NM_002857.4(PEX19):c.294del (p.Glu98fs) rs2101804576
NM_002857.4(PEX19):c.320del (p.Lys107fs) rs1571138735
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)
NM_002857.4(PEX19):c.86del (p.Phe29fs)
NM_002857.4(PEX19):c.9del (p.Ala4fs)
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val) rs1194593234
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) rs587777858
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) rs121434583
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) rs1555262375
NM_002894.3(RBBP8):c.2287+53T>G rs587776883
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) rs1463925107
NM_002906.4(RDX):c.129G>A (p.Trp43Ter) rs1412883921
NM_002906.4(RDX):c.1346del (p.Ala449fs) rs2134302220
NM_002906.4(RDX):c.1405dup (p.Ala469fs) rs1372141763
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) rs121918379
NM_002906.4(RDX):c.463C>T (p.Gln155Ter) rs121918380
NM_002906.4(RDX):c.551+2T>C rs1591158999
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter)
NM_002913.5(RFC1):c.2535+2T>C
NM_002913.5(RFC1):c.2690+1G>A
NM_002913.5(RFC1):c.575del (p.Asn192fs)
NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)
NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)
NM_003047.5(SLC9A1):c.862del (p.Ile288fs) rs2083214834
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) rs786204831
NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly) rs876661338
NM_003052.5(SLC34A1):c.241dup (p.Glu81fs) rs1174958403
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala) rs769409705
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_003104.6(SORD):c.731C>T (p.Pro244Leu)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003104.6(SORD):c.776C>T (p.Ala259Val)
NM_003104.6(SORD):c.851T>C (p.Leu284Pro)
NM_003104.6(SORD):c.895C>T (p.Arg299Ter) rs1267443415
NM_003135.3(SRP19):c.189+5G>A rs1322282571
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) rs1950780024
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter) rs121908384
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.66_67del (p.Val23fs) rs1572324681
NM_003292.3(TPR):c.*1130G>C rs1657377652
NM_003292.3(TPR):c.2610+5G>A
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer) rs773840992
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) rs1581736099
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.524dup (p.Pro176fs) rs1327062642
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) rs1581743256
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) rs1581742633
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) rs2150926986
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) rs1581740762
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) rs104894732
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) rs398122380
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) rs397514750
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003383.5(VLDLR):c.820+1G>A
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
NM_003384.3(VRK1):c.103_104del (p.Lys35fs) rs2139748811
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs) rs2139845849
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter) rs2139748841
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs) rs1889019962
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
NM_003384.3(VRK1):c.1159+1G>A rs774877872
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) rs1887100431
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
NM_003384.3(VRK1):c.160+1del
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.222del (p.Ser75fs) rs2139779014
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
NM_003384.3(VRK1):c.362_365del (p.Lys121fs) rs772146380
NM_003384.3(VRK1):c.387dup (p.Ile130fs) rs2139795550
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer) rs2139796429
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter) rs2139801958
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile) rs1595676517
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter) rs1200170208
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu) rs1172497555
NM_003384.3(VRK1):c.779del (p.Pro260fs)
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter) rs2139804073
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
NM_003384.3(VRK1):c.881del (p.Asn294fs)
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.897del (p.Ile299fs) rs2139814687
NM_003384.3(VRK1):c.913dup (p.Thr305fs) rs2139814734
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del
NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs) rs1933800287
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.326_329dup (p.Asn111fs) rs752023208
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003619.4(PRSS12):c.1355_1358del (p.Asp452fs) rs876657372
NM_003630.3(PEX3):c.292_302del (p.Ser98fs) rs748689554
NM_003630.3(PEX3):c.543dup (p.Val182fs)
NM_003630.3(PEX3):c.942-8T>G rs267608193
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003672.4(CDC14A):c.839-3C>G rs1553191001
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003701.4(TNFSF11):c.532+4_532+8del rs2137905441
NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) rs121909072
NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) rs863223288
NM_003701.4(TNFSF11):c.929del (p.Ala310fs) rs2137916719
NM_003754.3(EIF3F):c.861dup (p.Gln288fs) rs2133674310
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter) rs121908858
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.1465C>T (p.Gln489Ter)
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu) rs868951923
NM_003801.4(GPAA1):c.319_320del (p.Ser107fs) rs1835941699
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_003801.4(GPAA1):c.920del (p.Gly307fs) rs1554764067
NM_003801.4(GPAA1):c.981_993del (p.Gln327fs) rs1554764080
NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511fs) rs2145357936
NM_003839.4(TNFRSF11A):c.157G>C (p.Gly53Arg) rs121908659
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
NM_003839.4(TNFRSF11A):c.385C>T (p.Arg129Cys) rs121908657
NM_003839.4(TNFRSF11A):c.508A>G (p.Arg170Gly) rs121908655
NM_003839.4(TNFRSF11A):c.523T>C (p.Cys175Arg) rs121908656
NM_003839.4(TNFRSF11A):c.54C>A (p.Cys18Ter)
NM_003839.4(TNFRSF11A):c.730G>T (p.Ala244Ser) rs121908658
NM_003860.4(BANF1):c.34G>A (p.Ala12Thr) rs387906871
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) rs200541102
NM_003896.4(ST3GAL5):c.1000del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1008+1G>A
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.1030_1031del (p.Ile344fs) rs2104584644
NM_003896.4(ST3GAL5):c.10A>T (p.Lys4Ter)
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003896.4(ST3GAL5):c.154C>T (p.Arg52Ter)
NM_003896.4(ST3GAL5):c.271G>T (p.Glu91Ter)
NM_003896.4(ST3GAL5):c.289del (p.Met97fs)
NM_003896.4(ST3GAL5):c.289dup (p.Met97fs)
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter) rs1423247945
NM_003896.4(ST3GAL5):c.318+1del rs1684687070
NM_003896.4(ST3GAL5):c.32_39del (p.Arg11fs) rs2104282063
NM_003896.4(ST3GAL5):c.332dup (p.Tyr111Ter) rs1683047204
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003896.4(ST3GAL5):c.359del (p.Cys120fs)
NM_003896.4(ST3GAL5):c.374_381del (p.Ala125fs)
NM_003896.4(ST3GAL5):c.40dup (p.Leu14fs)
NM_003896.4(ST3GAL5):c.422T>G (p.Leu141Ter)
NM_003896.4(ST3GAL5):c.47_62del (p.Pro16fs)
NM_003896.4(ST3GAL5):c.538G>T (p.Glu180Ter)
NM_003896.4(ST3GAL5):c.567del (p.Lys190fs) rs2103959087
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser) rs886037930
NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)
NM_003896.4(ST3GAL5):c.694G>T (p.Glu232Ter)
NM_003896.4(ST3GAL5):c.794del (p.Leu265fs) rs1444819796
NM_003896.4(ST3GAL5):c.79C>T (p.Arg27Ter) rs1688068423
NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) rs771131526
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.361_363del (p.Lys121del) rs767060858
NM_003937.3(KYNU):c.374-433_435+369del
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.137_141del (p.Asp46fs) rs1959062017
NM_004004.6(GJB2):c.157T>A (p.Cys53Ser) rs1555341986
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter) rs763572195
NM_004004.6(GJB2):c.206_212dup (p.Ser72fs)
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) rs886037625
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.314_329del (p.Lys105fs) rs797045596
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) rs1555341931
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) rs375759781
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) rs769486081
NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs) rs2137308740
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) rs267606695
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) rs121908932
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.197T>G (p.Val66Gly) rs121908927
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) rs121908928
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004086.3(COCH):c.341T>C (p.Leu114Pro) rs2138844314
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) rs121908929
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.984_985dup (p.Phe329fs) rs1895769400
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs) rs2128707546
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs) rs2128707619
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) rs2128711268
NM_004100.5(EYA4):c.1282-12T>A rs2128781753
NM_004100.5(EYA4):c.1720_1722delTACinsAAA rs1800334076
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) rs1554275988
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004100.5(EYA4):c.804+2T>A rs2128665071
NM_004100.5(EYA4):c.804+2del rs2128665075
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) rs2128674939
NM_004100.5(EYA4):c.992dup (p.Ser331fs)
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_004153.4(ORC1):c.1482-2A>G rs1378348220
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) rs2147923128
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) rs1557573504
NM_004153.4(ORC1):c.237del (p.Pro80fs) rs1647490038
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) rs387906826
NM_004153.4(ORC1):c.403-2A>C rs2147941262
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) rs869312749
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys) rs869312750
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
NM_004336.5(BUB1):c.2197dup (p.Ala733fs)
NM_004336.5(BUB1):c.2625+1G>A
NM_004336.5(BUB1):c.2T>G (p.Met1Arg)
NM_004373.4(COX6A1):c.247-7_247-3del rs587777783
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) rs1334656238
NM_004393.6(DAG1):c.285+1G>A rs2050744878
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) rs2051320206
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter) rs2131107
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004403.3(GSDME):c.1183+4A>G rs1562687295
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter) rs200205042
NM_004403.3(GSDME):c.991-6C>G rs1562687726
NM_004407.4(DMP1):c.1485_1491del (p.Tyr496fs) rs587776698
NM_004407.4(DMP1):c.1A>G (p.Met1Val) rs104893834
NM_004407.4(DMP1):c.362del (p.Pro121fs) rs587776696
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004426.3(PHC1):c.100C>T (p.Arg34Ter) rs2137054010
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe) rs587777036
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter) rs2135785787
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter) rs587777691
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter) rs80338752
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter) rs80338744
NM_004525.3(LRP2):c.12437del (p.Gly4146fs) rs786205122
NM_004525.3(LRP2):c.1341+2T>G rs80338745
NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter) rs1559043276
NM_004525.3(LRP2):c.2640-1G>A rs587776717
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.8244T>A (p.Cys2748Ter) rs2105326044
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_004525.3(LRP2):c.8452+1G>A rs80338748
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs) rs80338749
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs) rs80338751
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004539.4(NARS1):c.203dup (p.Met69fs) rs1908000933
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243
NM_004560.4(ROR2):c.1184-1G>T rs2118645585
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) rs1308509155
NM_004560.4(ROR2):c.1353_1360del (p.Met452fs) rs1365019676
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) rs121909083
NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs) rs863223291
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter) rs121909085
NM_004560.4(ROR2):c.2T>G (p.Met1Arg) rs2118126851
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys) rs121909084
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) rs121909086
NM_004560.4(ROR2):c.622+762_1184-1036del
NM_004560.4(ROR2):c.675del (p.Gln225fs) rs2118702517
NM_004560.4(ROR2):c.79_80del (p.Ser29fs) rs2118125646
NM_004560.4(ROR2):c.990del (p.Thr331fs) rs1837228121
NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter) rs267607037
NM_004604.5(STX4):c.232+6T>C
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004618.5(TOP3A):c.2271dup (p.Arg758fs) rs752838075
NM_004618.5(TOP3A):c.2428del (p.Ser810fs) rs1555568139
NM_004618.5(TOP3A):c.2718del (p.Thr907fs) rs1288928564
NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) rs797044972
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) rs1553165199
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) rs1557977732
NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) rs797044965
NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) rs80358274
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) rs80358275
NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) rs1558014576
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) rs797044967
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) rs80358276
NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) rs797044968
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) rs797044969
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) rs797044970
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) rs80358279
NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) rs797044971
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)
NM_004813.4(PEX16):c.115C>T (p.Arg39Ter) rs2134699162
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.446dup (p.Ala150fs) rs2134695309
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
NM_004813.4(PEX16):c.58del (p.Ala20fs)
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
NM_004813.4(PEX16):c.65_71del (p.Thr22fs) rs2134699707
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter) rs2134692559
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter) rs2086807269
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
NM_004813.4(PEX16):c.860G>A (p.Arg287His)
NM_004813.4(PEX16):c.952+118_*82del
NM_004813.4(PEX16):c.952+2T>C rs267608185
NM_004813.4(PEX16):c.984del (p.Ile330fs) rs1590793006
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) rs397514472
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg) rs745997916
NM_004830.4(MED23):c.3638A>G (p.His1213Arg) rs527236035
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys) rs2114757071
NM_004830.4(MED23):c.539C>A (p.Ala180Asp) rs2114756866
NM_004830.4(MED23):c.670C>G (p.Arg224Gly) rs1293450628
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter) rs869025178
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) rs864621972
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs) rs2103993244
NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter)
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs) rs797045558
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) rs1558652941
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln) rs121908569
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs) rs2104414335
NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter) rs1553407942
NM_004836.7(EIF2AK3):c.2985+1G>A rs869025179
NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter) rs121908570
NM_004839.4(HOMER2):c.554G>C (p.Arg185Pro) rs864309524
NM_004839.4(HOMER2):c.799_803del (p.Pro267fs) rs2051382999
NM_004839.4(HOMER2):c.807dup (p.Met270fs) rs2051382723
NM_004849.4(ATG5):c.366A>T (p.Glu122Asp) rs1131692265
NM_004928.3(CFAP410):c.643-2A>G rs1602071524
NM_004937.3(CTNS):c.1000del (p.Thr334fs) rs2142982656
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) rs748094459
NM_004937.3(CTNS):c.140+1G>A
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+1del rs2150904759
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.141-24T>C
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs) rs2150906974
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.1A>T (p.Met1Leu) rs2075650925
NM_004937.3(CTNS):c.204del (p.Ile69fs)
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter) rs2150919035
NM_004937.3(CTNS):c.27del (p.Phe9fs) rs2150888913
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.314_317del (p.His105fs)
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.329G>T (p.Gly110Val) rs121908129
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.405dup (p.Val136fs)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter) rs2076101974
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) rs745365232
NM_004937.3(CTNS):c.539_551del (p.Leu180fs) rs2150922730
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) rs1567695026
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter) rs2150889009
NM_004937.3(CTNS):c.61_61+2del rs2075652654
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.62-1G>T rs1597619719
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.681+8del rs2150923282
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.682-2A>C
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.696dup (p.Val233fs) rs113994209
NM_004937.3(CTNS):c.699_700del (p.Ser234fs) rs766981777
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter) rs2150925108
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter) rs2076198741
NM_004937.3(CTNS):c.790_791del (p.Gln264fs) rs2076198775
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.82_83del (p.Val28fs) rs2150904623
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.841dup (p.Tyr281fs) rs1411094034
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.36dup (p.Thr13fs) rs1562201376
NM_004999.4(MYO6):c.560del (p.Pro187fs) rs2150249865
NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr) rs1553163562
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) rs1055176338
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
NM_005199.5(CHRNG):c.55+5G>A
NM_005199.5(CHRNG):c.56-2A>G
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927
NM_005219.5(DIAPH1):c.1016del (p.Met339fs) rs2154596448
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter) rs2154597562
NM_005219.5(DIAPH1):c.1483C>T (p.Arg495Ter)
NM_005219.5(DIAPH1):c.2100dup (p.Pro701fs) rs2154596284
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) rs771360300
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) rs730882242
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) rs2099888710
NM_005219.5(DIAPH1):c.3166C>T (p.Gln1056Ter) rs1331356644
NM_005219.5(DIAPH1):c.3211_3212insAT (p.Arg1071fs)
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs) rs1064797096
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3661+1G>T rs1476157529
NM_005219.5(DIAPH1):c.626dup (p.Tyr209Ter)
NM_005219.5(DIAPH1):c.684+1G>A
NM_005219.5(DIAPH1):c.839del (p.Leu280fs)
NM_005219.5(DIAPH1):c.89del (p.Gly30fs)
NM_005219.5(DIAPH1):c.910dup (p.Ser304fs) rs2154596461
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
NM_005422.4(TECTA):c.1115dup (p.Ser373fs)
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter) rs1946605498
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.4(TECTA):c.4690-1G>A
NM_005422.4(TECTA):c.4856G>C (p.Cys1619Ser) rs121909060
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.4(TECTA):c.5331G>A (p.Leu1777=) rs1591462832
NM_005422.4(TECTA):c.5383+5_5383+8del rs2135128814
NM_005422.4(TECTA):c.5509T>C (p.Cys1837Arg) rs121909061
NM_005422.4(TECTA):c.5509T>G (p.Cys1837Gly) rs121909061
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys) rs121909058
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter) rs267602733
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005522.5(HOXA1):c.185del (p.Gly62fs) rs1562700083
NM_005522.5(HOXA1):c.76C>T (p.Arg26Ter) rs104894018
NM_005522.5(HOXA1):c.84C>G (p.Tyr28Ter) rs104894017
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs) rs1572304438
NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr) rs137853248
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005529.7(HSPG2):c.7294+4A>G rs1572220282
NM_005529.7(HSPG2):c.8464+4A>G rs1572204991
NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr) rs748523693
NM_005529.7(HSPG2):c.8759-3_8764del
NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs) rs1057519491
NM_005548.3(KARS1):c.1696-2A>C rs1299524768
NM_005548.3(KARS1):c.314T>A (p.Leu105His) rs267607194
NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs) rs587776688
NM_005612.5(REST):c.1244G>C (p.Cys415Ser) rs2109573013
NM_005612.5(REST):c.983-2247C>G rs1720770872
NM_005645.4(TAF13):c.119T>A (p.Met40Lys) rs1060505029
NM_005645.4(TAF13):c.92T>A (p.Leu31His) rs1060505030
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln) rs1553553086
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro) rs1396171148
NM_005687.5(FARSB):c.1408del (p.Leu470fs) rs2106209945
NM_005687.5(FARSB):c.1486delinsAA (p.His496fs) rs1553549333
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly) rs2106230623
NM_005687.5(FARSB):c.848+1G>A rs777071414
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005708.3(GPC6):c.320_711del
NM_005708.3(GPC6):c.712_877dup
NM_005708.5(GPC6):c.700C>T (p.Arg234Ter) rs121908440
NM_005708.5(GPC6):c.778del (p.Leu260fs) rs863223282
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005797.4(MPZL2):c.161del (p.Pro54fs)
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_005797.4(MPZL2):c.[220C>T];[463del]
NM_005807.6(PRG4):c.1134dup (p.Lys379fs)
NM_005807.6(PRG4):c.1194del (p.Thr399fs) rs748663740
NM_005807.6(PRG4):c.1320dup (p.Lys441fs) rs1557943002
NM_005807.6(PRG4):c.1699del (p.Glu567fs)
NM_005807.6(PRG4):c.1911del (p.Glu638fs) rs1571569884
NM_005807.6(PRG4):c.1935del (p.Glu646fs) rs2102025845
NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter) rs776645239
NM_005807.6(PRG4):c.2806_2810del (p.Lys936fs) rs763025365
NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)
NM_005807.6(PRG4):c.2841_2842del (p.Lys947fs) rs1475926873
NM_005807.6(PRG4):c.2894_2898del (p.Thr965fs) rs2102028973
NM_005807.6(PRG4):c.301G>T (p.Glu101Ter) rs748999850
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs) rs1571575523
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) rs769917456
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_005807.6(PRG4):c.3277_3278del (p.Lys1093fs) rs1258207620
NM_005807.6(PRG4):c.3486dup (p.Val1163fs) rs2102031816
NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del) rs1571587012
NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter) rs1388040598
NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter) rs387906339
NM_005807.6(PRG4):c.849del (p.Val284fs) rs1571563202
NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.235G>A (p.Ala79Thr) rs587777346
NM_005861.4(STUB1):c.236C>A (p.Ala79Asp) rs587777347
NM_005861.4(STUB1):c.367C>G (p.Leu123Val) rs587777344
NM_005861.4(STUB1):c.389A>T (p.Asn130Ile) rs587777341
NM_005861.4(STUB1):c.441G>T (p.Trp147Cys) rs587777342
NM_005861.4(STUB1):c.493C>T (p.Leu165Phe) rs587777340
NM_005861.4(STUB1):c.646dup (p.Ser216fs) rs1555475283
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs) rs754446573
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
NM_005861.4(STUB1):c.885dup (p.Glu296Ter) rs1567283195
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
NM_005866.4(SIGMAR1):c.13del (p.Val5fs) rs1564096761
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) rs1820936580
NM_005866.4(SIGMAR1):c.151+1G>T rs796065352
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) rs747285235
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter) rs1564096221
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) rs780136067
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter) rs1242817438
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs) rs587777675
NM_005876.5(SPEG):c.3709_3715+29del rs587777674
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter) rs587777673
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val) rs587777676
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005879.3(TRAIP):c.52C>T (p.Arg18Cys) rs864622784
NM_005881.4(BCKDK):c.222del (p.Met74fs) rs2057392733
NM_005881.4(BCKDK):c.264+1G>C
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs) rs2143936992
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) rs147210405
NM_005883.3(APC2):c.5199dup (p.Lys1734fs) rs886040957
NM_005883.3(APC2):c.6620C>T (p.Pro2207Leu) rs1338563418
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu) rs104894375
NM_005916.5(MCM7):c.1579C>T (p.Arg527Ter) rs76705400
NM_005916.5(MCM7):c.415C>T (p.Gln139Ter) rs1054083917
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) rs758105856
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn) rs1303947821
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) rs104893882
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn) rs1730968028
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.383_399dup (p.Asp134fs)
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_006012.4(CLPP):c.624C>G (p.Ile208Met) rs1555719766
NM_006014.5(LAGE3):c.188+1G>A rs1557211410
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe) rs1557211306
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser) rs1557211209
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) rs1560449207
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) rs1300041533
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.1165+1G>C rs780745598
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs) rs2134454279
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs) rs747511049
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) rs771271907
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter) rs895239701
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2236+1G>C rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs) rs1346704603
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.553del (p.Leu185fs) rs1855280375
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.797del (p.Glu266fs) rs1431956318
NM_006019.4(TCIRG1):c.807+2T>G rs2134440422
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter) rs2134442342
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006118.4(HAX1):c.146del (p.Pro49fs) rs2149139668
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
NM_006118.4(HAX1):c.166del (p.His56fs) rs2149139706
NM_006118.4(HAX1):c.16del (p.Leu6fs)
NM_006118.4(HAX1):c.173del (p.Pro58fs)
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer) rs758657008
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs) rs2149139793
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
NM_006118.4(HAX1):c.235_236del (p.Phe79fs) rs2149139817
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter) rs1487742962
NM_006118.4(HAX1):c.368_381del (p.Gln123fs) rs1425877227
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs) rs2149139969
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter) rs1392118289
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter) rs2149140056
NM_006118.4(HAX1):c.505-1G>C
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
NM_006118.4(HAX1):c.556+1del rs2149140495
NM_006118.4(HAX1):c.58dup (p.Arg20fs) rs2149139493
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
NM_006208.3(ENPP1):c.1273+1G>A rs755969803
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) rs2114643507
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) rs2114726975
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) rs2114727013
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) rs1470739291
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) rs121908249
NM_006208.3(ENPP1):c.430+1del rs1554278331
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) rs1805101
NM_006208.3(ENPP1):c.574del (p.Glu192fs) rs1234826768
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.915+1G>A rs2114702198
NM_006279.5(ST3GAL3):c.1068dup (p.Glu357fs) rs1391400488
NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr) rs1557612719
NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp) rs387906943
NM_006279.5(ST3GAL3):c.891+1del rs1387140766
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter) rs1555768154
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) rs746506432
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr) rs397515412
NM_006383.4(CIB2):c.476_479del (p.Asp159fs)
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter)
NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter) rs753695101
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)
NM_006397.3(RNASEH2A):c.263_267dup (p.Gly90fs)
NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)
NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)
NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs) rs781284373
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter) rs2145830181
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter)
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) rs2139670174
NM_006432.5(NPC2):c.129del (p.Thr44fs)
NM_006432.5(NPC2):c.12_18del (p.Ala5fs)
NM_006432.5(NPC2):c.130_131del (p.Thr44fs)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter) rs2086712337
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) rs2086712268
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) rs2086689501
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.281dup (p.Ser95fs) rs2139668010
NM_006432.5(NPC2):c.2T>A (p.Met1Lys)
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>T (p.Met1Ile)
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.5(NPC2):c.79dup (p.Cys27fs) rs767899043
NM_006432.5(NPC2):c.82+2T>C rs879253740
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
NM_006618.5(KDM5B):c.3799del (p.Gln1267fs) rs1558479778
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
NM_006618.5(KDM5B):c.622dup (p.Tyr208fs) rs1558501648
NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser) rs375695605
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs) rs778900414
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
NM_006642.5(SDCCAG8):c.1324dup (p.Gln442fs) rs747911477
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter) rs1573920009
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter) rs2080721288
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs) rs397515336
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs) rs2149263988
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter) rs201658593
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_006642.5(SDCCAG8):c.741-152G>A rs2072310236
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_006721.4(ADK):c.704A>C (p.Asp235Ala) rs397514453
NM_006721.4(ADK):c.89G>A (p.Gly30Glu) rs397514454
NM_006721.4(ADK):c.953C>A (p.Ala318Glu) rs397514452
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs) rs2125081805
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter) rs2125082259
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) rs1951895452
NM_006739.4(MCM5):c.1397C>T (p.Thr466Ile) rs1131692169
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr) rs1554486894
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter) rs387906804
NM_006765.4(TUSC3):c.225del (p.Lys75fs) rs1554461593
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468
NM_006765.4(TUSC3):c.786dup (p.Asn263fs) rs1585215916
NM_006793.5(PRDX3):c.340dup (p.Ala114fs) rs2133659317
NM_006793.5(PRDX3):c.37-2A>G rs1368897658
NM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys) rs1907907851
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) rs1907906060
NM_006796.3(AFG3L2):c.634dup (p.Val212fs) rs2143196334
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu) rs1908569446
NM_006828.4(ASCC3):c.3434del (p.Lys1145fs) rs759097017
NM_006828.4(ASCC3):c.3522dup (p.Cys1175fs)
NM_006828.4(ASCC3):c.3631C>T (p.Gln1211Ter)
NM_006828.4(ASCC3):c.4280C>T (p.Thr1427Met)
NM_006828.4(ASCC3):c.4415G>A (p.Arg1472Gln)
NM_006828.4(ASCC3):c.4553G>A (p.Arg1518His)
NM_006828.4(ASCC3):c.4690T>C (p.Ser1564Pro)
NM_006828.4(ASCC3):c.4955G>A (p.Gly1652Asp)
NM_006828.4(ASCC3):c.4984A>T (p.Ile1662Phe)
NM_006828.4(ASCC3):c.5281C>T (p.Arg1761Ter)
NM_006828.4(ASCC3):c.801+1G>T rs1432792609
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter) rs1394583450
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.1233del (p.Glu412fs) rs2113120213
NM_006846.4(SPINK5):c.1242_1246del (p.Lys415fs) rs2113120242
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter) rs1366194827
NM_006846.4(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs) rs2113177526
NM_006846.4(SPINK5):c.2038_2041del (p.Lys680fs)
NM_006846.4(SPINK5):c.2039_2049del (p.Lys680fs)
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)
NM_006846.4(SPINK5):c.216del (p.Glu73fs)
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.2423_2425del (p.Thr808del)
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.2472del (p.Glu825fs) rs2113195147
NM_006846.4(SPINK5):c.2483del (p.Asp828fs)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter) rs1340491788
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter) rs749828824
NM_006846.4(SPINK5):c.283-2A>T rs587777749
NM_006846.4(SPINK5):c.2847_2851dup (p.Met951fs)
NM_006846.4(SPINK5):c.2870del (p.Leu957fs)
NM_006846.4(SPINK5):c.2953_2954del (p.Phe985fs) rs1754451124
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs) rs763649250
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.4(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)
NM_006846.4(SPINK5):c.478del (p.Val160fs)
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.666+1G>T
NM_006846.4(SPINK5):c.679G>T (p.Glu227Ter) rs1480221716
NM_006846.4(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.4(SPINK5):c.695_696del (p.Val232fs)
NM_006846.4(SPINK5):c.829_830del (p.Asp277fs)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_006846.4(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006892.4(DNMT3B):c.1453C>T (p.Arg485Ter)
NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter) rs1978602545
NM_006892.4(DNMT3B):c.1466_1488del (p.Leu489fs)
NM_006892.4(DNMT3B):c.160C>T (p.Arg54Ter)
NM_006892.4(DNMT3B):c.1711C>T (p.Arg571Ter)
NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala)
NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala) rs1568857280
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) rs121908942
NM_006892.4(DNMT3B):c.2044_2047del (p.Ser682fs)
NM_006892.4(DNMT3B):c.2197C>T (p.Arg733Ter)
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) rs121908944
NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter) rs2146082310
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) rs759448571
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) rs121908939
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) rs121908940
NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter) rs2145960216
NM_006892.4(DNMT3B):c.754C>T (p.Arg252Ter)
NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter) rs1979652729
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) rs121908947
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) rs121908945
NM_006892.4(DNMT3B):c.996del (p.Met332fs) rs2145982663
NM_006895.3(HNMT):c.179G>A (p.Gly60Asp) rs758252808
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val) rs1598358440
NM_006907.4(PYCR1):c.11del (p.Gly4fs) rs1598358449
NM_006907.4(PYCR1):c.345del (p.Arg116fs) rs758601634
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly) rs121918376
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp) rs121918375
NM_006907.4(PYCR1):c.618_633+7del rs1598354372
NM_006907.4(PYCR1):c.67+2T>A rs2041207320
NM_006907.4(PYCR1):c.797+2_797+5del rs1371235353
NM_006915.3(RP2):c.102+3A>C rs1556313557
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys) rs1318256630
NM_006946.4(SPTBN2):c.157+1G>A rs2135558909
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter) rs146859515
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs) rs373728971
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_006984.5(CLDN10):c.138G>A (p.Trp46Ter)
NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys) rs759408749
NM_006984.5(CLDN10):c.2T>C (p.Met1Thr) rs930701747
NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu) rs1555299783
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) rs1401027751
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) rs1658342879
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) rs1571532822
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer) rs1477525034
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs) rs886037744
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs) rs1555810613
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln) rs746702852
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp) rs1672152382
NM_012205.3(HAAO):c.43del (p.Arg15fs) rs1558680405
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012210.4(TRIM32):c.1087del (p.Ala363fs)
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1185dup (p.Gln396fs) rs1180939705
NM_012210.4(TRIM32):c.1188del (p.Val397fs)
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter) rs747266069
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs) rs35904234
NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)
NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs) rs2132075143
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs) rs886044106
NM_012210.4(TRIM32):c.1603del (p.Leu535fs) rs2132075382
NM_012210.4(TRIM32):c.1685del (p.Gly562fs) rs1564218190
NM_012210.4(TRIM32):c.190del (p.Cys64fs)
NM_012210.4(TRIM32):c.201del (p.Thr68fs)
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
NM_012210.4(TRIM32):c.341del (p.Ser114fs)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.476_477dup (p.Met160fs) rs2132071763
NM_012210.4(TRIM32):c.484del (p.Glu162fs)
NM_012210.4(TRIM32):c.498del (p.Lys167fs)
NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter) rs2132072043
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs) rs2132072315
NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)
NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)
NM_012210.4(TRIM32):c.758del (p.Leu253fs) rs1861000401
NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)
NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)
NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter) rs1272966742
NM_012210.4(TRIM32):c.885del (p.Lys296fs)
NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)
NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)
NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) rs1558792256
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) rs1691647986
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) rs1573585099
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer) rs2104983369
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) rs1558805781
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.2710-1G>A
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) rs1558782178
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.1998+1G>A rs2102866054
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)
NM_012448.4(STAT5B):c.1009C>T (p.Gln337Ter) rs2080191165
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1102dup (p.Gln368fs) rs761761205
NM_012448.4(STAT5B):c.1191dup (p.Asn398fs)
NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs)
NM_012448.4(STAT5B):c.121C>T (p.Gln41Ter) rs767959957
NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg) rs1555548680
NM_012448.4(STAT5B):c.1680+1del
NM_012448.4(STAT5B):c.16C>T (p.Gln6Ter)
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) rs2144219508
NM_012448.4(STAT5B):c.1749del (p.Lys583fs)
NM_012448.4(STAT5B):c.1888G>C (p.Ala630Pro) rs121908501
NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter)
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter) rs778995803
NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter)
NM_012448.4(STAT5B):c.415C>T (p.Gln139Ter)
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) rs2144267361
NM_012448.4(STAT5B):c.454C>T (p.Arg152Ter) rs121908502
NM_012448.4(STAT5B):c.530A>C (p.Gln177Pro) rs1555549674
NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) rs1220385043
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) rs1566294545
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432
NM_012473.4(TXN2):c.71G>A (p.Trp24Ter) rs754022333
NM_012478.4(WBP2):c.487A>C (p.Met163Leu) rs1555604710
NM_012478.4(WBP2):c.671C>T (p.Ala224Val) rs1555604549
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter) rs1060499797
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro) rs397518461
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr) rs1694593071
NM_013335.4(GMPPA):c.118del (p.His40fs)
NM_013335.4(GMPPA):c.210del (p.Ala71fs) rs886037654
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp) rs397518462
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter) rs2125639654
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
NM_013335.4(GMPPA):c.853+1G>A rs1553624347
NM_013374.6(PDCD6IP):c.154_158dup (p.Val54fs)
NM_013382.5(POMT2):c.1170_1171del rs764210532
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs) rs1890825132
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1300del (p.Arg434fs) rs2140188352
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter) rs1379963762
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs) rs1555351894
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
NM_013382.7(POMT2):c.2147+1G>A
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser) rs267606967
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
NM_013382.7(POMT2):c.383del (p.Leu128fs)
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.791del (p.Leu264fs) rs1891020302
NM_013382.7(POMT2):c.816+1G>T
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
NM_013382.7(POMT2):c.879_880del (p.Thr295fs) rs752440109
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256
NM_013403.3(STRN4):c.282+78C>T rs1555735545
NM_014026.6(DCPS):c.201+2T>C rs1057519083
NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) rs119460973
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014028.4(OSTM1):c.486del (p.Phe162fs) rs1582396088
NM_014028.4(OSTM1):c.783+5G>T rs1554250938
NM_014028.4(OSTM1):c.949+5G>A rs1562370077
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819
NM_014168.4(METTL5):c.224+1G>A
NM_014168.4(METTL5):c.344_345del (p.Arg115fs) rs1573972562
NM_014168.4(METTL5):c.571_572del (p.Lys191fs) rs1573965358
NM_014168.4(METTL5):c.591+2T>G rs1400976065
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014264.5(PLK4):c.2811-5C>G rs724159995
NM_014321.4(ORC6):c.1A>G (p.Met1Val) rs777153067
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.602_605del (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys) rs2143010039
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val) rs1279789023
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs) rs2137573354
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.10932dup (p.Leu3645fs) rs2137570842
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) rs2137561906
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) rs2137561134
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.12268C>A (p.His4090Asn) rs2137559913
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter) rs2137557832
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1358del (p.Gly453fs) rs2137722808
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.2060del (p.Asp687fs) rs2137716138
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.237dup (p.Ser80fs) rs770311689
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2938_2939del (p.Met980fs) rs1593133306
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) rs2137625077
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) rs764992284
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4835dup (p.Phe1614fs) rs2137624079
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) rs2137616027
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) rs2137615500
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) rs761655321
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) rs770490672
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6837dup (p.Glu2280fs) rs748765057
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) rs771583552
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter) rs1213203489
NM_014363.6(SACS):c.8227del (p.His2743fs) rs2137593965
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.914_915del (p.Thr305fs) rs2137726985
NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) rs2137580127
NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro) rs1244049089
NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe) rs1246628003
NM_014396.4(VPS41):c.450+1G>T rs2116102196
NM_014415.4(ZBTB11):c.154C>T (p.Arg52Trp)
NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr) rs1559982532
NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln) rs1559981249
NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)
NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)
NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)
NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)
NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
NM_014425.5(INVS):c.1211del (p.Asp404fs)
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
NM_014425.5(INVS):c.1367del (p.Gly456fs)
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
NM_014425.5(INVS):c.1690del (p.Ala564fs)
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014425.5(INVS):c.1760del (p.Gln587fs) rs1833004339
NM_014425.5(INVS):c.177_180dup (p.Leu61fs) rs1564123602
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs) rs1588145141
NM_014425.5(INVS):c.1812del (p.Glu605fs)
NM_014425.5(INVS):c.1822del (p.Gln608fs)
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter) rs764384987
NM_014425.5(INVS):c.2012del (p.Gln671fs)
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter) rs150001738
NM_014425.5(INVS):c.2116del (p.Arg706fs)
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
NM_014425.5(INVS):c.2372dup (p.Lys792fs) rs2118762244
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
NM_014425.5(INVS):c.245del (p.Arg82fs)
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.2729del (p.Lys910fs) rs757019335
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2801del (p.Lys934fs) rs2118781593
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
NM_014425.5(INVS):c.337del (p.Glu113fs)
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.497del (p.Lys166fs)
NM_014425.5(INVS):c.630dup (p.Glu211fs)
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
NM_014425.5(INVS):c.673_674del (p.Leu225fs) rs1205325321
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter) rs2118494165
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
NM_014425.5(INVS):c.805_806del (p.Gln269fs)
NM_014425.5(INVS):c.833del (p.Asn278fs)
NM_014425.5(INVS):c.83del (p.Gly28fs) rs763565647
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)
NM_014425.5(INVS):c.[796+5G>A;805_806del]
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_014687.4(RUBCN):c.2624del (p.Ala875fs) rs587777235
NM_014687.4(RUBCN):c.2647-2A>G
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
NM_014704.4(CEP104):c.1901dup (p.Leu634fs) rs1411591918
NM_014704.4(CEP104):c.2356_2357insTT (p.Cys786fs) rs2124647615
NM_014704.4(CEP104):c.643C>T (p.Arg215Ter) rs759675006
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014780.5(CUL7):c.1570-3C>A rs730880263
NM_014780.5(CUL7):c.2064-1G>A rs2150328634
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs) rs1064792895
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014780.5(CUL7):c.3173-1G>C rs864309521
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)
NM_014780.5(CUL7):c.418_419del (p.Thr140fs) rs1764489246
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) rs377169342
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs) rs730880261
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) rs2150304168
NM_014780.5(CUL7):c.652del (p.Arg218fs) rs1581962986
NM_014780.5(CUL7):c.[2164C>T;4911dup]
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
NM_014797.3(ZBTB24):c.1118C>G (p.Ser373Ter) rs1213180923
NM_014797.3(ZBTB24):c.1125_1135del (p.Gln375fs)
NM_014797.3(ZBTB24):c.1161del (p.Phe387fs)
NM_014797.3(ZBTB24):c.1272_1281del (p.Leu425fs)
NM_014797.3(ZBTB24):c.1439dup (p.His480fs)
NM_014797.3(ZBTB24):c.226_227del (p.Ile76fs)
NM_014797.3(ZBTB24):c.350_351del (p.Lys117fs)
NM_014797.3(ZBTB24):c.377_378del (p.Thr126fs)
NM_014797.3(ZBTB24):c.389del (p.Asn130fs)
NM_014797.3(ZBTB24):c.396_397del (p.His132fs) rs1562305058
NM_014797.3(ZBTB24):c.431del (p.Gly144fs)
NM_014797.3(ZBTB24):c.44_50del (p.His15fs)
NM_014797.3(ZBTB24):c.501dup (p.Val168fs) rs780371205
NM_014797.3(ZBTB24):c.593_594del (p.Phe198fs)
NM_014797.3(ZBTB24):c.658G>T (p.Glu220Ter)
NM_014797.3(ZBTB24):c.787A>T (p.Lys263Ter)
NM_014797.3(ZBTB24):c.795dup (p.Asp266fs)
NM_014797.3(ZBTB24):c.825_844del (p.His276fs)
NM_014797.3(ZBTB24):c.833C>G (p.Ser278Ter) rs1582683374
NM_014797.3(ZBTB24):c.868_875dup (p.Arg295fs)
NM_014797.3(ZBTB24):c.888dup (p.Lys297Ter) rs1776399868
NM_014797.3(ZBTB24):c.909dup (p.Lys304Ter) rs770082593
NM_014797.3(ZBTB24):c.911_914del (p.Lys304fs)
NM_014797.3(ZBTB24):c.953-2A>G
NM_014797.3(ZBTB24):c.971_972delinsAA (p.Cys324Ter)
NM_014797.3(ZBTB24):c.993del (p.Phe331fs)
NM_014797.3(ZBTB24):c.997C>T (p.Gln333Ter)
NM_014798.3(PLEKHM1):c.296+1G>A rs786205055
NM_014806.5(RUSC2):c.2596C>T (p.Arg866Ter) rs1402086660
NM_014806.5(RUSC2):c.3952C>T (p.Arg1318Ter) rs1554645052
NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs)
NM_014813.3(LRIG2):c.1230del (p.Glu410fs) rs587776945
NM_014813.3(LRIG2):c.2088del (p.Ser697fs) rs587776947
NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter) rs587776946
NM_014865.4(NCAPD2):c.4120+2T>C rs1555141158
NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)
NM_014875.3(KIF14):c.246del (p.Asn83fs) rs1553264036
NM_014875.3(KIF14):c.2480_2482del (p.Val827del) rs1553259539
NM_014875.3(KIF14):c.2545C>G (p.His849Asp) rs1553259528
NM_014875.3(KIF14):c.263T>A (p.Leu88Ter) rs1553264033
NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val) rs981349334
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) rs1553254322
NM_014875.3(KIF14):c.4432del (p.Ser1478fs) rs1553253022
NM_014889.4(PITRM1):c.2236-1dup rs2132393459
NM_014918.5(CHSY1):c.14del (p.Gly5fs) rs1567112402
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg) rs387906985
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) rs387906984
NM_014918.5(CHSY1):c.321-3C>G rs1567106459
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del)
NM_014918.5(CHSY1):c.96del (p.Glu33fs) rs1596459125
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs) rs2042674113
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter) rs2136139535
NM_014956.5(CEP164):c.1481dup (p.Pro495fs) rs752518735
NM_014956.5(CEP164):c.1482del (p.Gln496fs)
NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)
NM_014956.5(CEP164):c.1534dup (p.Glu512fs)
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)
NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter) rs2136318333
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)
NM_014956.5(CEP164):c.2481del (p.Tyr828fs)
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter) rs377597884
NM_014956.5(CEP164):c.266dup (p.Asp89fs) rs1565454034
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs) rs1317765862
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs) rs2136450623
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter) rs2136466034
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs) rs1565455033
NM_014956.5(CEP164):c.349_352del (p.Glu117fs)
NM_014956.5(CEP164):c.3528del (p.Lys1176fs)
NM_014956.5(CEP164):c.3598_3599del (p.Trp1201fs)
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs) rs2047013877
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)
NM_014956.5(CEP164):c.381del (p.Ser129fs)
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)
NM_014956.5(CEP164):c.4286+1G>T rs2047400808
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg) rs1565649749
NM_014956.5(CEP164):c.591_593delinsCTCCATATATGAGGACAAGACTGCTCTCAGC (p.Leu198fs)
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer) rs1402460878
NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)
NM_014956.5(CEP164):c.893del (p.Gly298fs)
NM_014994.3(MAPKBP1):c.1270_1271del (p.Ser424fs) rs2152080114
NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln) rs1057519305
NM_014994.3(MAPKBP1):c.2426-1G>A rs1057519306
NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter) rs752616462
NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter) rs1057519303
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter) rs886037841
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) rs2131461009
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu) rs2131444517
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) rs2131440608
NM_015046.7(SETX):c.387_388+2del
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) rs746973259
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs) rs2131428041
NM_015046.7(SETX):c.5019del (p.Val1674fs)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) rs1844047388
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_015046.7(SETX):c.719G>A (p.Gly240Asp) rs1589757407
NM_015046.7(SETX):c.7292dup (p.Asn2431fs) rs2131115543
NM_015102.5(NPHP4):c.1082_1083dup (p.Tyr362fs) rs2101924403
NM_015102.5(NPHP4):c.1271del (p.Lys424fs) rs770306587
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter) rs780905861
NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter)
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1500del (p.Leu502fs)
NM_015102.5(NPHP4):c.1692_1704del (p.Ala565fs)
NM_015102.5(NPHP4):c.1704dup (p.Gln569fs)
NM_015102.5(NPHP4):c.1705C>T (p.Gln569Ter) rs113413307
NM_015102.5(NPHP4):c.1715del (p.Pro572fs)
NM_015102.5(NPHP4):c.175C>T (p.Arg59Ter) rs753774833
NM_015102.5(NPHP4):c.1804C>T (p.Gln602Ter)
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.1936C>T (p.Gln646Ter) rs2101131514
NM_015102.5(NPHP4):c.1956-2A>C rs1271993311
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs) rs1644833186
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2026_2027del (p.Pro676fs)
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015102.5(NPHP4):c.202dup (p.Arg68fs)
NM_015102.5(NPHP4):c.2144-1G>A
NM_015102.5(NPHP4):c.2304+1G>A rs757412845
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter) rs137852918
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter) rs137852919
NM_015102.5(NPHP4):c.257_258del (p.Pro86fs)
NM_015102.5(NPHP4):c.2611C>T (p.Arg871Ter) rs2100733826
NM_015102.5(NPHP4):c.2626C>T (p.Gln876Ter) rs2100678099
NM_015102.5(NPHP4):c.2773C>T (p.Gln925Ter)
NM_015102.5(NPHP4):c.2821_2822insT (p.Gln941fs)
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser) rs28940891
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3083dup (p.Ala1029fs)
NM_015102.5(NPHP4):c.3148del (p.Gln1050fs)
NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter)
NM_015102.5(NPHP4):c.3272dup (p.Ser1092fs)
NM_015102.5(NPHP4):c.3282G>A (p.Trp1094Ter) rs763668545
NM_015102.5(NPHP4):c.3368_3369del (p.Val1123fs) rs1474013513
NM_015102.5(NPHP4):c.3418G>T (p.Glu1140Ter)
NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter) rs2100466824
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs) rs775221217
NM_015102.5(NPHP4):c.3506dup (p.Val1170fs)
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3700C>T (p.Gln1234Ter)
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) rs776535691
NM_015102.5(NPHP4):c.3798_3799del (p.His1267fs) rs2100405990
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs) rs1557580413
NM_015102.5(NPHP4):c.477del (p.Arg160fs)
NM_015102.5(NPHP4):c.517+1G>A rs1419875412
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter) rs997408852
NM_015102.5(NPHP4):c.518-1G>C rs1650418400
NM_015102.5(NPHP4):c.60_61del (p.Arg20fs) rs770357627
NM_015102.5(NPHP4):c.750dup (p.Ser251fs) rs754862360
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsA
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp) rs1185537869
NM_015114.3(ANKLE2):c.706C>T (p.Arg236Ter)
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.11551del rs1675622361
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
NM_015120.4:c.(?_9911)_(11550_?)del
NM_015120.4:c.11054_11055ins[N[333];11041_11054]
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu) rs869025292
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp) rs1057519454
NM_015189.1:c.2122+15447_2197-59588del
NM_015189.3(EXOC6B):c.401T>G (p.Leu134Ter) rs2104774484
NM_015189.3(EXOC6B):c.906T>A (p.Tyr302Ter) rs1294100541
NM_015205.3(ATP11A):c.3322_3327+2dup rs2140433062
NM_015261.3(NCAPD3):c.1783del (p.Val595fs) rs1555139372
NM_015261.3(NCAPD3):c.3278_3281del (p.Lys1093fs) rs773824610
NM_015261.3(NCAPD3):c.3458A>C (p.Glu1153Ala) rs1350194762
NM_015261.3(NCAPD3):c.382+14A>G rs1555143325
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter) rs542206983
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter) rs2135773055
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys) rs768574664
NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg) rs587777411
NM_015275.3(WASHC4):c.3143A>G (p.Asp1048Gly) rs1212552985
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.137_138del (p.Glu46fs)
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_015294.6(TRIM37):c.1949-12A>G rs1409660715
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter)
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.2212del (p.Glu738fs) rs386833416
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs)
NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs)
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) rs121908391
NM_015294.6(TRIM37):c.370-1G>A
NM_015294.6(TRIM37):c.447del (p.Lys149fs) rs1197523487
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs) rs2106102918
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) rs121918215
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) rs1335171880
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) rs121918216
NM_015311.3(OBSL1):c.2164del (p.Asp722fs) rs1696816233
NM_015311.3(OBSL1):c.2474del (p.Val825fs) rs1057518716
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs) rs1559160379
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_015311.3(OBSL1):c.848del (p.Gly283fs) rs773698181
NM_015311.3(OBSL1):c.[1273dup;836G>A]
NM_015311.3(OBSL1):c.[1273dup];[35dup]
NM_015340.3(LARS2):c.[1912G>A];[899C>T]
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.1783del (p.Ala595fs) rs2125750668
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) rs864309643
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) rs776171893
NM_015340.4(LARS2):c.41_42del (p.Leu14fs) rs1698009919
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975
NM_015341.5(NCAPH):c.728C>T (p.Pro243Leu) rs1553446603
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs) rs879253765
NM_015378.4(VPS13D):c.10142-2A>G
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter) rs1645321968
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln) rs1557478316
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter) rs756025227
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter) rs1557680710
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter) rs1557684974
NM_015378.4(VPS13D):c.5725+2dup
NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs) rs1557705968
NM_015378.4(VPS13D):c.9871+2T>C
NM_015404.4(WHRN):c.1817del (p.Asp606fs)
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) rs137852839
NM_015404.4(WHRN):c.2423del (p.Gly808fs) rs869320674
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) rs776268964
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) rs137852840
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) rs1306987034
NM_015404.4(WHRN):c.737del (p.Pro246fs) rs1589229634
NM_015404.4(WHRN):c.837+1G>A rs2133130286
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs) rs752942007
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer) rs2063478568
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs) rs2146116814
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs) rs2063446897
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter) rs2148365710
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter) rs2146160649
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs) rs2063399418
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs) rs2148360598
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs) rs1568762986
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer) rs2148359769
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter) rs2063392759
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs) rs2148359722
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs) rs2063734182
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter) rs1601113209
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs) rs2148355967
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter) rs747918559
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter) rs2146160463
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
NM_015474.4(SAMHD1):c.328del (p.Ile110fs) rs759706198
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs) rs2063594580
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs) rs1601144527
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs) rs1328663348
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT rs2146131738
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs) rs2146127824
NM_015474.4(SAMHD1):c.66del (p.Ser23fs) rs1442728513
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter) rs2063541685
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter) rs1219206348
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter) rs750807433
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter) rs752962934
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter) rs2063480012
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC
NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs) rs1647734130
NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs) rs879255612
NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs) rs1193188647
NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter) rs2148468809
NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter) rs2148468818
NM_015602.4(TOR1AIP1):c.379del (p.Thr127fs) rs2148468861
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs) rs1648457474
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter) rs1648544786
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
NM_015650.4(TRAF3IP1):c.1575+6T>G rs886037897
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met) rs886037898
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala) rs886037896
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter) rs765903345
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met) rs886037899
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.4428+3A>G rs2148476381
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) rs786205855
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs) rs2121081165
NM_015665.6(AAAS):c.211del (p.His71fs) rs765577880
NM_015665.6(AAAS):c.250del (p.Trp84fs) rs2136820957
NM_015665.6(AAAS):c.399+1G>A rs2136811976
NM_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter) rs758057774
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter) rs1944347921
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) rs1450008394
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs) rs1553454436
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) rs1573878695
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter) rs2105048127
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
NM_015702.3(MMADHC):c.544dup (p.Thr182fs) rs1308639482
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
NM_015702.3(MMADHC):c.556_557del (p.Met186fs) rs1682706954
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs) rs2105045491
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs) rs2105042265
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter) rs141093638
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter) rs2105042210
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015703.5(RRP7A):c.465G>C (p.Trp155Cys) rs1356719738
NM_015895.5(GMNN):c.16A>T (p.Lys6Ter) rs864309486
NM_015895.5(GMNN):c.35_38del (p.Ile12fs) rs864309487
NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) rs864309488
NM_015910.7(WDPCP):c.1198del (p.Glu400fs)
NM_015910.7(WDPCP):c.1342del (p.Val448fs)
NM_015910.7(WDPCP):c.1347_1348del (p.Gln451fs) rs1694365826
NM_015910.7(WDPCP):c.1360G>T (p.Glu454Ter)
NM_015910.7(WDPCP):c.1419_1420del (p.Leu474fs) rs1281918775
NM_015910.7(WDPCP):c.1727_1728del (p.Arg576fs)
NM_015910.7(WDPCP):c.1751_1773del (p.Tyr584fs) rs2103954534
NM_015910.7(WDPCP):c.1799del (p.Arg600fs)
NM_015910.7(WDPCP):c.1809_1812+6del rs2103953112
NM_015910.7(WDPCP):c.1872_1875dup (p.Ala626fs) rs1681413798
NM_015910.7(WDPCP):c.1910_1913del (p.Gly637fs) rs2104771725
NM_015910.7(WDPCP):c.2078+1G>T rs1673664656
NM_015910.7(WDPCP):c.216del (p.Glu72fs)
NM_015910.7(WDPCP):c.340dup (p.Ser114fs)
NM_015910.7(WDPCP):c.512_515del (p.Asp171fs)
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_015910.7(WDPCP):c.679C>T (p.Arg227Ter)
NM_015910.7(WDPCP):c.755G>A (p.Trp252Ter) rs2105466704
NM_015910.7(WDPCP):c.76-1G>T rs397704728
NM_015910.7(WDPCP):c.925_931del (p.Asp309fs)
NM_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_015932.6(POMP):c.340_344dup (p.Glu115fs) rs1555257075
NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs) rs1555257076
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr) rs1554119274
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016038.2(SBDS):c.625-1delG rs1792914342
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.258+347_459+223del
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.460-1G>A rs1792969582
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_016042.4(EXOSC3):c.112del (p.Glu38fs) rs587780333
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs) rs2118980242
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile) rs1198691735
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs) rs2118980158
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) rs730882145
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro) rs1553433412
NM_016098.4(MPC1):c.236T>A (p.Leu79His) rs387907238
NM_016098.4(MPC1):c.289C>T (p.Arg97Trp) rs387907237
NM_016100.5(NAA20):c.160A>G (p.Met54Val) rs2146464332
NM_016100.5(NAA20):c.239C>T (p.Ala80Val) rs768029717
NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs) rs1276979881
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs) rs1064794347
NM_016122.3(CEP83):c.1131dup (p.Arg378fs) rs2061113374
NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter) rs2061111812
NM_016122.3(CEP83):c.1170del (p.Lys390fs)
NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs) rs780500128
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs) rs1187876547
NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)
NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs) rs2136515432
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter) rs587777488
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro) rs587777487
NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs) rs2136514301
NM_016122.3(CEP83):c.1580del (p.Thr527fs)
NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter) rs2136488957
NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter) rs906852829
NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)
NM_016122.3(CEP83):c.2007del (p.Glu669fs) rs922686745
NM_016122.3(CEP83):c.2072AAC[1] (p.Gln692del) rs879255576
NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del) rs879255575
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter) rs2137575733
NM_016122.3(CEP83):c.606del (p.Leu203fs) rs2137174483
NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)
NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)
NM_016138.5(COQ7):c.1A>G (p.Met1Val)
NM_016138.5(COQ7):c.253-2A>T
NM_016138.5(COQ7):c.467T>A (p.Leu156Gln)
NM_016138.5(COQ7):c.467T>G (p.Leu156Arg)
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser) rs2141181367
NM_016194.4(GNB5):c.239-2A>C rs1379641378
NM_016194.4(GNB5):c.348_352del (p.Asp116fs) rs1085307675
NM_016194.4(GNB5):c.368C>A (p.Ser123Ter)
NM_016194.4(GNB5):c.375+1G>T rs886041055
NM_016194.4(GNB5):c.375G>A (p.Gln125=) rs886041054
NM_016194.4(GNB5):c.458G>A (p.Cys153Tyr)
NM_016194.4(GNB5):c.481del (p.Ala161fs)
NM_016194.4(GNB5):c.863G>A (p.Arg288Gln)
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro) rs1158130828
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs) rs794729645
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs) rs747262065
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter) rs1564311909
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter) rs1831100789
NM_016219.5(MAN1B1):c.1445+2_1445+5del rs1831100970
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter) rs1377102705
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter) rs2130986124
NM_016219.5(MAN1B1):c.465+1462_620+529del
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.621-2A>G rs937318545
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs) rs1564281411
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
NM_016239.4(MYO15A):c.10177C>T (p.Gln3393Ter) rs2142429182
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del) rs1174503300
NM_016239.4(MYO15A):c.10350+2T>G rs760148486
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) rs2142436425
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs) rs2142451116
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs) rs1057519607
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) rs2047052213
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs) rs2142244823
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
NM_016239.4(MYO15A):c.1661del (p.Gly554fs) rs1245338270
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs) rs2142236482
NM_016239.4(MYO15A):c.212del (p.Lys71fs) rs2142236554
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs) rs2142253567
NM_016239.4(MYO15A):c.2958del (p.Arg987fs) rs2142258855
NM_016239.4(MYO15A):c.3123del (p.Lys1042fs) rs769230097
NM_016239.4(MYO15A):c.3141del (p.Lys1048fs) rs1317243760
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) rs121908971
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) rs769884586
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) rs121908968
NM_016239.4(MYO15A):c.3693-2A>G rs2142274411
NM_016239.4(MYO15A):c.3700C>T (p.Gln1234Ter) rs2142274433
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs) rs878853239
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter) rs2142280018
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) rs878854410
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) rs758896141
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter) rs549138385
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) rs1567638693
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) rs2046256329
NM_016239.4(MYO15A):c.4596+1G>A
NM_016239.4(MYO15A):c.4596+2_4596+3del rs2142315894
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) rs1555543432
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) rs1567618790
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His) rs878854412
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter) rs1597787868
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter) rs773729617
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) rs2142326062
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.5134-1G>A rs2142330705
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) rs2142330998
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) rs878854413
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) rs121908972
NM_016239.4(MYO15A):c.5531+1G>A rs727503309
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) rs2046392476
NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs) rs2142341338
NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly) rs749465098
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter) rs2142240125
NM_016239.4(MYO15A):c.605C>A (p.Pro202His) rs1229200252
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His) rs878854414
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6178-2A>G rs878854415
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) rs571594379
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) rs121908966
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) rs377385081
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg) rs1567648703
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) rs2142363296
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) rs1057519604
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly) rs878854409
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs) rs2142369409
NM_016239.4(MYO15A):c.7654+1G>A rs1338603862
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs) rs2142370409
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) rs121908967
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter) rs2142377997
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) rs121908969
NM_016239.4(MYO15A):c.8152del (p.Leu2718fs) rs2142379446
NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu) rs773476384
NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter) rs2142381989
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) rs766250454
NM_016239.4(MYO15A):c.8583del (p.Phe2861fs) rs2142384617
NM_016239.4(MYO15A):c.8713+3_8713+6del rs2142386632
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter) rs776201118
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del) rs2142387013
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs) rs751628774
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) rs2046704290
NM_016239.4(MYO15A):c.8968-1G>C rs746051220
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs) rs2142391112
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9083+6T>A rs1555547112
NM_016239.4(MYO15A):c.9229+2T>C rs1057519606
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter) rs774255124
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
NM_016239.4(MYO15A):c.9518-2A>G
NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter) rs2142402323
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
NM_016239.4(MYO15A):c.9787+1G>A rs769937488
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) rs2142413310
NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG (p.Asn3315delinsValTer) rs2142413318
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) rs1567664131
NM_016239.4(MYO15A):c.[1185dup];[4879G>T]
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016302.4(CRBN):c.129dup (p.Pro44fs) rs1707782133
NM_016302.4(CRBN):c.835+1G>A rs1226252969
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro) rs794729665
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.557+1G>T rs763299947
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_016356.5(DCDC2):c.705-2A>G
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
NM_016373.4(WWOX):c.1043del (p.Phe348fs) rs1064795117
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) rs770155582
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.107+1_107+2delinsTA
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs) rs2051756247
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter) rs1284883505
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter) rs1057517846
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr) rs587777128
NM_016373.4(WWOX):c.173-1G>C
NM_016373.4(WWOX):c.173-1G>T
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) rs990150249
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter) rs373306276
NM_016373.4(WWOX):c.333del (p.Thr112fs) rs2151674791
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) rs730880291
NM_016373.4(WWOX):c.517-1G>T rs867163041
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) rs1567542020
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) rs878855021
NM_016373.4(WWOX):c.854dup (p.Asn285fs) rs1394607357
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) rs1891344853
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.377-3C>G rs774110963
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer) rs2135153244
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) rs546968533
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.2212-1G>C rs2137911082
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) rs1593326999
NM_016529.6(ATP8A2):c.3183+1G>A rs1952385477
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_016529.6(ATP8A2):c.709del (p.Thr237fs) rs2137994737
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter) rs879255601
NM_016614.3(TDP2):c.650del (p.Gly217fs) rs1778000792
NM_016614.3(TDP2):c.949C>T (p.Arg317Ter) rs142438588
NM_016929.5(CLIC5):c.96T>A (p.Cys32Ter) rs606231308
NM_016929.5:c.[224T>C];[63+1G>A]
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) rs1859949436
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) rs1044449024
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs) rs2134747667
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) rs760866131
NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter) rs1564544199
NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter) rs1564544348
NM_017433.5(MYO3A):c.1777-12G>A rs1564568849
NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter) rs193919333
NM_017433.5(MYO3A):c.3737_3738del (p.Glu1246fs) rs2132036795
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs) rs1589079163
NM_017433.5(MYO3A):c.4587-1G>A rs1311980539
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)
NM_017433.5(MYO3A):c.732-2A>G rs1023746725
NM_017613.4(DONSON):c.607-36G>A rs752810960
NM_017613.4(DONSON):c.631C>T (p.Arg211Cys) rs774052186
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs) rs1557794465
NM_017697.4(ESRP1):c.665_683del (p.Asp222fs) rs1554577339
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val) rs1554577402
NM_017721.5(CC2D1A):c.1223-294_1642-220del
NM_017721.5(CC2D1A):c.1764+1G>C rs2145350143
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs) rs1423002835
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs) rs2148192725
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs) rs2148192392
NM_017739.4(POMGNT1):c.10del (p.Trp4fs) rs1571672866
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) rs1553163360
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter) rs2148189653
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) rs1657864516
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1285-2A>T rs386834012
NM_017739.4(POMGNT1):c.1335del (p.Met446fs) rs1553163206
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs) rs2148185606
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
NM_017739.4(POMGNT1):c.1539+1G>T rs138642840
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs) rs1434252108
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter) rs746196856
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter) rs2148167494
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs) rs1302430730
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter) rs376973640
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter) rs1364587778
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.1895+1G>C rs386834024
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter) rs749603354
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.4(POMGNT1):c.36del (p.Phe13fs) rs1658363329
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
NM_017739.4(POMGNT1):c.426del (p.His142fs)
NM_017739.4(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs) rs757322014
NM_017739.4(POMGNT1):c.564_576del (p.Thr188_Ala189insTer) rs2148205473
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter) rs908815575
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter) rs1264635358
NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer) rs2148222613
NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817
NM_017755.6(NSUN2):c.1020del (p.Gly341fs) rs1579368865
NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter) rs387907191
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.538-11T>G rs2126499522
NM_017755.6(NSUN2):c.538-1G>C rs1560982564
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter) rs387907190
NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)
NM_017755.6(NSUN2):c.97-1G>C
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del) rs587777804
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) rs1555331969
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter) rs1557734377
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn) rs1557732234
NM_017825.3(ADPRS):c.146del (p.Thr49fs)
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_017825.3(ADPRS):c.292del (p.Val98fs) rs1557733367
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) rs1557733597
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) rs200626873
NM_017838.4(NHP2):c.376G>A (p.Val126Met) rs121908090
NM_017838.4(NHP2):c.415T>C (p.Tyr139His) rs121908089
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) rs866266558
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) rs2125577893
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs) rs2125578591
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs) rs2125578633
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) rs2125578710
NM_017875.4(SLC25A38):c.276+1G>A rs2125578753
NM_017875.4(SLC25A38):c.276+1G>T rs2125578753
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) rs762067787
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) rs2125579714
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer) rs2125579746
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs) rs1301033567
NM_017875.4(SLC25A38):c.362del (p.Pro121fs) rs2125579866
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) rs2125579946
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) rs2041767822
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs) rs2041767936
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs) rs2125580030
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) rs2041768572
NM_017875.4(SLC25A38):c.457-1G>T rs1448237170
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) rs772425489
NM_017875.4(SLC25A38):c.475del (p.Glu159fs) rs2041773742
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs) rs2125580393
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) rs121918331
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) rs2125580560
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) rs2125580580
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) rs2125580600
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.626-2A>T rs2125582750
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs) rs781372292
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs) rs2125582823
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) rs2125582841
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_017875.4(SLC25A38):c.792+5G>C rs2125582986
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs) rs2125584589
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) rs147431446
NM_017875.4(SLC25A38):c.858del (p.Ala287fs) rs2125584640
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) rs1156987118
NM_017909.4(RMND1):c.829_830+2del rs1780336606
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg) rs879253733
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs) rs879253734
NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del) rs879253737
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter) rs879253736
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter) rs879253735
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter) rs1405576707
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs) rs794726680
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1476+1G>T rs761213683
NM_018075.5(ANO10):c.1551dup (p.Ala518fs) rs2079693628
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer) rs794726681
NM_018075.5(ANO10):c.1669-2A>T rs797045240
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter) rs2149481901
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter) rs1210764379
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter) rs2133748193
NM_018117.12(WDR11):c.1439del (p.Asn480fs) rs747938475
NM_018117.12(WDR11):c.2931+1G>A rs1252726486
NM_018117.12(WDR11):c.3033_3036del rs760973100
NM_018131.5(CEP55):c.514dup (p.Ile172fs) rs1169095680
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter) rs1297300713
NM_018136.4(ASPM):c.[10168C>T];[8098C>T]
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.117_118del (p.Leu41fs) rs587783216
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs) rs587783221
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs) rs1553227645
NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1932del (p.Phe645fs) rs2125112411
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter) rs1553227021
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2581dup (p.Ile861fs) rs2125107857
NM_018136.5(ASPM):c.2760+1G>A rs2125107452
NM_018136.5(ASPM):c.2936dup (p.Arg980fs) rs797045311
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.2968del (p.Asp990fs) rs587783228
NM_018136.5(ASPM):c.297+1G>C rs1553228275
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) rs587783230
NM_018136.5(ASPM):c.3390+3_3390+6del rs797045313
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs) rs769818500
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) rs199422157
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3741+1G>C
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter) rs587783238
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.3974dup (p.Tyr1325Ter) rs1553225179
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer) rs1571602991
NM_018136.5(ASPM):c.434del (p.Lys145fs) rs2125114846
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs) rs2125096622
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.5467C>T (p.Gln1823Ter) rs754909135
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs) rs1571601267
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) rs1571600860
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6513dup (p.Val2172fs) rs1571600045
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7308dup (p.Val2437fs) rs797045315
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) rs587783268
NM_018136.5(ASPM):c.7664_7665del (p.Lys2555fs) rs587783269
NM_018136.5(ASPM):c.7665del (p.Ala2556fs) rs587783269
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) rs587783272
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs) rs797045316
NM_018136.5(ASPM):c.803_804del (p.Lys268fs) rs587783277
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8141del (p.Ala2714fs) rs2125093720
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) rs2125093662
NM_018136.5(ASPM):c.8195_8196del (p.Arg2732fs)
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) rs1558328287
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs) rs2125093294
NM_018136.5(ASPM):c.8702del (p.His2901fs)
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) rs587783282
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter) rs587783288
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter) rs774143329
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs) rs587783289
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) rs143931757
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter) rs368682161
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter) rs2125087894
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018136.5(ASPM):c.[1789C>T;2525_2531del]
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) rs1008561025
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) rs1949650831
NM_018230.3(NUP133):c.3335-11T>A rs1433513056
NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs) rs797045441
NM_018249.6(CDK5RAP2):c.1376del (p.Asn459fs) rs1588472215
NM_018249.6(CDK5RAP2):c.217_220del (p.Glu73fs)
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) rs199422126
NM_018249.6(CDK5RAP2):c.3545_3546del (p.His1182fs) rs2131327802
NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter) rs376990082
NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)
NM_018249.6(CDK5RAP2):c.4005-15A>G rs387906274
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter) rs754282058
NM_018249.6(CDK5RAP2):c.4604+1G>C rs869025200
NM_018249.6(CDK5RAP2):c.4670_4671del (p.Leu1557fs) rs1554730137
NM_018249.6(CDK5RAP2):c.5127_5128dup (p.Ser1710fs) rs1554728351
NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)
NM_018249.6(CDK5RAP2):c.564_565dup (p.Lys189fs) rs2131964849
NM_018249.6(CDK5RAP2):c.700G>T (p.Glu234Ter) rs398122971
NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu) rs371310428
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro) rs772450541
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter) rs149225624
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018294.6(CWF19L1):c.1375-2A>G
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter) rs2134307362
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018294.6(CWF19L1):c.708+294_1044+1540del
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) rs879255653
NM_018389.5(SLC35C1):c.367del (p.Val123fs) rs2085872592
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter) rs1470970903
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys) rs2134598310
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter) rs398124345
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg) rs28937886
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) rs768028061
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) rs371609982
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) rs777346333
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1434del (p.Lys479fs) rs1954548327
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.18del (p.Ser7fs) rs199422202
NM_018451.5(CENPJ):c.2117_2118del (p.Asp705_Ser706insTer) rs761856922
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018451.5(CENPJ):c.3309dup (p.Pro1104fs) rs1131691823
NM_018451.5(CENPJ):c.3586G>A (p.Asp1196Asn) rs1555294652
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val) rs121434311
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) rs1060499557
NM_018451.5(CENPJ):c.59G>A (p.Trp20Ter) rs1555299107
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018669.6(WDR4):c.491A>C (p.Asp164Ala) rs1555976610
NM_018669.6(WDR4):c.911_927dup (p.Gln310fs) rs1569314907
NM_018669.6(WDR4):c.940dup (p.Leu314fs) rs776760122
NM_018699.3(PRDM5):c.946_1623del
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
NM_018699.4(PRDM5):c.93+1G>A rs1267369024
NM_018699.4(PRDM5):c.93+2T>C rs1579259095
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.34-2A>G rs1797714974
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G rs781815473
NM_018718.3(CEP41):c.477del (p.Glu160fs)
NM_018718.3(CEP41):c.7del (p.Leu3fs) rs1798139951
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.880del (p.Leu294fs)
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119
NM_018965.4(TREM2):c.40+1G>A
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter) rs2131493453
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
NM_018972.4(GDAP1):c.1del (p.Met1fs)
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter) rs1586794015
NM_018972.4(GDAP1):c.235_239del (p.Val79fs) rs1243845978
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter) rs1808867656
NM_018972.4(GDAP1):c.250del (p.Glu84fs) rs1241632021
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs) rs2131493519
NM_018972.4(GDAP1):c.310+1G>A rs1808872865
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.361del (p.Val121fs) rs2131512540
NM_018972.4(GDAP1):c.367del (p.His123fs)
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.536del (p.Pro179fs) rs1169652308
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter) rs1085307665
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.618dup (p.Lys207fs) rs1809447471
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_020066.5(FMN2):c.1394dup (p.Ala466fs) rs727502860
NM_020066.5(FMN2):c.1550del (p.Pro517fs) rs1390970926
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter) rs1247510585
NM_020066.5(FMN2):c.2515del (p.Thr839fs) rs727502861
NM_020127.3(TUFT1):c.564del (p.Gln189fs)
NM_020127.3(TUFT1):c.60+1G>A
NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs) rs2040458488
NM_020232.5(PSMG2):c.675T>G (p.Asn225Lys) rs1323730269
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
NM_020247.5(COQ8A):c.127del (p.Leu43fs) rs754586499
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs) rs797045217
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1506+1G>A rs974677376
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) rs1572040505
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) rs606231139
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys) rs1659735679
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) rs781518112
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs) rs431825171
NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs) rs730882197
NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr) rs745342141
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020458.4(TTC7A):c.1001+3_1001+6del rs587776971
NM_020458.4(TTC7A):c.1008C>G (p.Tyr336Ter) rs587777548
NM_020458.4(TTC7A):c.1018dup (p.Asp340fs) rs762504554
NM_020458.4(TTC7A):c.1039dup (p.Leu347fs) rs1572849873
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter) rs1297794582
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter) rs779549457
NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter) rs1558568116
NM_020458.4(TTC7A):c.1281_1282insTT (p.Gly428fs)
NM_020458.4(TTC7A):c.1288-1G>T rs568082272
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs) rs762466884
NM_020458.4(TTC7A):c.1355dup (p.Met453fs) rs2104485613
NM_020458.4(TTC7A):c.1450G>T (p.Glu484Ter)
NM_020458.4(TTC7A):c.1481del (p.Gly494fs) rs587777549
NM_020458.4(TTC7A):c.1510+105T>A rs587777551
NM_020458.4(TTC7A):c.1528C>T (p.Gln510Ter)
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) rs786205698
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs) rs587777550
NM_020458.4(TTC7A):c.176del (p.Pro59fs)
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) rs1682321195
NM_020458.4(TTC7A):c.192del (p.Phe64fs) rs1476031758
NM_020458.4(TTC7A):c.2109del (p.Met704fs)
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter) rs762685822
NM_020458.4(TTC7A):c.2264del (p.Ala755fs)
NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter)
NM_020458.4(TTC7A):c.2272A>T (p.Lys758Ter)
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter) rs1057516047
NM_020458.4(TTC7A):c.2470dup (p.Gln824fs) rs768053395
NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter) rs766411601
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) rs886037747
NM_020458.4(TTC7A):c.499G>T (p.Glu167Ter)
NM_020458.4(TTC7A):c.565del (p.Arg188_Leu189insTer) rs2104231304
NM_020458.4(TTC7A):c.764+1del rs886037746
NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter) rs587777547
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) rs1644626732
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) rs1644591704
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) rs1644550472
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) rs1644549927
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter) rs760122001
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) rs1644525008
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs) rs2148578668
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter) rs184242303
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs) rs759212541
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs) rs2148591365
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs) rs397515454
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs) rs1569875704
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) rs1644651573
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter) rs376900021
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter) rs397515455
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_020632.3(ATP6V0A4):c.1030-2A>C
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) rs587776616
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) rs121908369
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter) rs1464966535
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs) rs1804439932
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del rs1803996097
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs) rs2117291505
NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe) rs387906329
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) rs104894325
NM_020661.4(AICDA):c.22_40del (p.Arg8fs) rs387906328
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) rs104894320
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro) rs104894321
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.415A>G (p.Met139Val) rs104894322
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser) rs104894327
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)
NM_020680.4(SCYL1):c.1386+1G>A
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter) rs1320473430
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020751.3(COG6):c.252del (p.Ala85fs) rs2137942150
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)
NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)
NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs) rs2103406171
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2638dup (p.Thr880fs) rs2103399754
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
NM_020779.4(WDR35):c.2858del (p.Pro953fs) rs397515334
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.297del (p.Met99fs) rs867715686
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys) rs1553313859
NM_020894.4(UVSSA):c.87del (p.Ile31fs) rs778975867
NM_020964.2(EPG5):c.[1188delC;2598A>G]
NM_020964.2(EPG5):c.[1A>G;4108delC]
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
NM_020964.2(EPG5):c.[2T>C;5792delT]
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
NM_020964.3(EPG5):c.1017_1018del (p.Ala340fs) rs2050937885
NM_020964.3(EPG5):c.102del (p.Ser35fs)
NM_020964.3(EPG5):c.1166C>G (p.Ser389Ter)
NM_020964.3(EPG5):c.1252+1G>A
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)
NM_020964.3(EPG5):c.1405dup (p.Arg469fs)
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1521del (p.Val509fs)
NM_020964.3(EPG5):c.1629_1630del (p.Gly544fs)
NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer)
NM_020964.3(EPG5):c.1847_1859del (p.Ala615_Phe616insTer)
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_020964.3(EPG5):c.1991del (p.His664fs)
NM_020964.3(EPG5):c.2041del (p.Gln681fs) rs2145880933
NM_020964.3(EPG5):c.205C>T (p.Gln69Ter)
NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer) rs2050617604
NM_020964.3(EPG5):c.2147_2150del (p.Ser716fs)
NM_020964.3(EPG5):c.2191dup (p.Glu731fs)
NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter) rs2050481336
NM_020964.3(EPG5):c.2353dup (p.Ala785fs) rs1085308062
NM_020964.3(EPG5):c.2355del (p.Arg786fs)
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.2427del (p.Leu810fs) rs2145807103
NM_020964.3(EPG5):c.2449del (p.Ser817fs)
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.2662A>T (p.Lys888Ter) rs769833086
NM_020964.3(EPG5):c.2737C>T (p.Gln913Ter)
NM_020964.3(EPG5):c.277G>T (p.Glu93Ter)
NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter)
NM_020964.3(EPG5):c.299_300del (p.Thr100fs)
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
NM_020964.3(EPG5):c.3148C>T (p.Gln1050Ter)
NM_020964.3(EPG5):c.3200del (p.Leu1067fs)
NM_020964.3(EPG5):c.3210_3213del (p.Cys1071fs)
NM_020964.3(EPG5):c.3248C>A (p.Ser1083Ter)
NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter)
NM_020964.3(EPG5):c.333del (p.Cys112fs)
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.3487C>T (p.Gln1163Ter)
NM_020964.3(EPG5):c.3493_3497del (p.Ile1165fs)
NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter) rs2145712492
NM_020964.3(EPG5):c.3590T>A (p.Leu1197Ter)
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) rs1555673890
NM_020964.3(EPG5):c.3785del (p.Asn1262fs)
NM_020964.3(EPG5):c.3859C>T (p.Gln1287Ter)
NM_020964.3(EPG5):c.3882_3883del (p.Trp1294fs)
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter) rs986592823
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4020dup (p.Gln1341fs) rs2145667073
NM_020964.3(EPG5):c.4051G>T (p.Glu1351Ter)
NM_020964.3(EPG5):c.4132G>T (p.Glu1378Ter)
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) rs190673127
NM_020964.3(EPG5):c.4286del (p.His1429fs) rs1568142333
NM_020964.3(EPG5):c.4391del (p.Gly1464fs)
NM_020964.3(EPG5):c.4499T>A (p.Leu1500Ter)
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4636C>T (p.Gln1546Ter)
NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter)
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.486_491del (p.Tyr162_Gln164delinsTer)
NM_020964.3(EPG5):c.4876C>T (p.Gln1626Ter)
NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT (p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer) rs2145474267
NM_020964.3(EPG5):c.5045_5057dup (p.Arg1686_His1687insTer)
NM_020964.3(EPG5):c.5107C>T (p.Gln1703Ter)
NM_020964.3(EPG5):c.5110-1G>C
NM_020964.3(EPG5):c.5322del (p.Trp1774fs)
NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs) rs2145422618
NM_020964.3(EPG5):c.5389dup (p.Thr1797fs)
NM_020964.3(EPG5):c.5472C>G (p.Tyr1824Ter)
NM_020964.3(EPG5):c.5544del (p.Glu1849fs)
NM_020964.3(EPG5):c.5564_5565del (p.Leu1855fs)
NM_020964.3(EPG5):c.5576del (p.Gly1859fs)
NM_020964.3(EPG5):c.5617G>T (p.Glu1873Ter) rs370720753
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs) rs2049058963
NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)
NM_020964.3(EPG5):c.5669dup (p.Met1891fs)
NM_020964.3(EPG5):c.5683C>T (p.Gln1895Ter)
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs)
NM_020964.3(EPG5):c.5774del (p.Ala1925fs) rs2145393546
NM_020964.3(EPG5):c.582del (p.Asn194fs)
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5962_5968del (p.Tyr1987_Pro1988insTer)
NM_020964.3(EPG5):c.5971G>T (p.Glu1991Ter)
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs) rs1064795230
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6218del (p.Phe2073fs)
NM_020964.3(EPG5):c.631A>T (p.Arg211Ter)
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) rs1599447883
NM_020964.3(EPG5):c.6377T>G (p.Leu2126Ter)
NM_020964.3(EPG5):c.6410_6411del (p.Thr2137fs)
NM_020964.3(EPG5):c.6419dup (p.Leu2141fs)
NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter)
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_020964.3(EPG5):c.6689del (p.Asn2230fs)
NM_020964.3(EPG5):c.671_672insCAGC (p.Gly225fs)
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter) rs772325682
NM_020964.3(EPG5):c.6898dup (p.Met2300fs)
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter) rs373944025
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
NM_020964.3(EPG5):c.7459C>T (p.Arg2487Ter) rs2145173322
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) rs773682747
NM_020982.4(CLDN9):c.86del (p.Leu29fs) rs2072541692
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter) rs587777497
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832
NM_021628.2:c.435-?_554+?del
NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro) rs1979966591
NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter) rs767046669
NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys) rs1979931284
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser) rs121434234
NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe) rs1979924544
NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln) rs761241768
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg) rs1979917479
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro) rs1355284797
NM_021628.3(ALOXE3):c.1292dup (p.His431fs) rs1567999431
NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA rs1979909742
NM_021628.3(ALOXE3):c.1393-1G>A rs1979807431
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs) rs2151838171
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
NM_021628.3(ALOXE3):c.1786-63_1807del rs1979055447
NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs) rs1979055873
NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys) rs568695601
NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs) rs1979042162
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) rs1163280866
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter) rs1568005543
NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro) rs1980629564
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) rs1980627156
NM_021628.3(ALOXE3):c.353-1G>C rs1980522554
NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer) rs769980324
NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs) rs1980748884
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter) rs141340759
NM_021628.3(ALOXE3):c.758del (p.Phe253fs) rs1980145171
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) rs1980084767
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter) rs765682032
NM_021628.3(ALOXE3):c.842G>T (p.Gly281Val) rs786205120
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) rs1427770703
NM_021728.4(OTX2):c.698del (p.Asn233fs) rs2139528052
NM_021800.3(DNAJC12):c.187A>T (p.Lys63Ter) rs761235755
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter) rs569240271
NM_021800.3(DNAJC12):c.215G>C (p.Arg72Pro) rs1035794099
NM_021800.3(DNAJC12):c.298-2A>C rs1841794857
NM_021800.3(DNAJC12):c.298-968_503-2603del
NM_021800.3(DNAJC12):c.309G>T (p.Trp103Cys) rs1841794635
NM_021800.3(DNAJC12):c.502+1G>C rs755829473
NM_021800.3(DNAJC12):c.58_59del (p.Gly20fs) rs1589052989
NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu) rs1273776043
NM_021828.5(HPSE2):c.1628A>T (p.Asn543Ile) rs397515452
NM_021828.5(HPSE2):c.241_242del (p.Leu81fs) rs1469962264
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter) rs2133951833
NM_021828.5(HPSE2):c.57dup (p.Ala20fs) rs778121647
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter) rs2134250333
NM_021828.5:c.1099-4166_1320+840delins23
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)
NM_021830.5(TWNK):c.333del (p.Leu112fs) rs886037832
NM_021830.5(TWNK):c.49del (p.Leu17fs) rs779142717
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) rs759603316
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter) rs2111348673
NM_021942.6(TRAPPC11):c.1131del (p.Asn378fs)
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer) rs1414226750
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter) rs2111363477
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) rs150331292
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter) rs1735877322
NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)
NM_021942.6(TRAPPC11):c.1568-1G>T rs1180079162
NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)
NM_021942.6(TRAPPC11):c.171_174dup (p.Asp59delinsArgTer)
NM_021942.6(TRAPPC11):c.1816C>T (p.Gln606Ter)
NM_021942.6(TRAPPC11):c.1893+3A>G rs886041053
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs) rs1554009901
NM_021942.6(TRAPPC11):c.2173del (p.Arg725fs)
NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs) rs2111067026
NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter) rs2111068100
NM_021942.6(TRAPPC11):c.2625del (p.His875fs) rs1736442342
NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs) rs1400419850
NM_021942.6(TRAPPC11):c.370del (p.Val124fs)
NM_021942.6(TRAPPC11):c.371_374del (p.Val124fs) rs769785004
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) rs771717941
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs) rs1735328958
NM_021942.6(TRAPPC11):c.661-1G>T rs886041052
NM_021942.6(TRAPPC11):c.666_669del (p.Phe223fs)
NM_021942.6(TRAPPC11):c.725del (p.Asn242fs)
NM_021942.6(TRAPPC11):c.886C>T (p.Arg296Ter)
NM_021942.6(TRAPPC11):c.913_914del (p.Lys305fs)
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter) rs749995448
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter) rs1210040661
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) rs1348189028
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) rs1191822017
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu) rs875989851
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs) rs1553691918
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser) rs397509424
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) rs2080426663
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) rs763971677
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
NM_022089.4(ATP13A2):c.1550C>T (p.Thr517Ile) rs1057519291
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3149TCT[1] (p.Phe1051del) rs1057519290
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter) rs1057519292
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.688C>T (p.Gln230Ter) rs2101042002
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
NM_022095.4(ZNF335):c.1399T>C (p.Cys467Arg) rs1568822376
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del) rs773283542
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs) rs2145359858
NM_022095.4(ZNF335):c.3332G>A (p.Arg1111His) rs397514642
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter) rs749190523
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_022098.4(XPNPEP3):c.1040G>A (p.Trp347Ter) rs2058187525
NM_022098.4(XPNPEP3):c.1357G>T (p.Gly453Cys) rs267607179
NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)
NM_022098.4(XPNPEP3):c.720dup (p.Gln241fs) rs2146254238
NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter) rs373917063
NM_022098.4(XPNPEP3):c.931_934del (p.Asn311fs) rs2146270895
NM_022124.5(CDH23):c.337del rs2132200416
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1291-1G>A rs2132596686
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.146-1G>C rs1564623280
NM_022124.6(CDH23):c.1623_1626dup (p.Thr543fs)
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.1934A>G (p.Asp645Gly) rs1390562340
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.1949dup (p.Leu651fs) rs753886326
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs) rs1554856042
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) rs1039517349
NM_022124.6(CDH23):c.2878dup (p.Glu960fs)
NM_022124.6(CDH23):c.3076del (p.Leu1026fs)
NM_022124.6(CDH23):c.3181G>A (p.Glu1061Lys) rs1060499793
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.3353del (p.Gly1118fs) rs2132760607
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3579+1G>A rs1564759653
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.4877A>C (p.Asp1626Ala) rs1554871816
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5369-1G>T rs1564791773
NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys) rs779425775
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser) rs121908352
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6253+1G>A rs1554874373
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6667del (p.Leu2223fs) rs1554874879
NM_022124.6(CDH23):c.6712+1G>A rs1554874900
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7660+1G>T rs1057520662
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) rs1362644811
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.8_9del (p.Arg3fs)
NM_022124.6(CDH23):c.9077+1G>A rs1841885880
NM_022124.6(CDH23):c.9129del (p.Asn3044fs) rs1554877797
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs) rs2133006702
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly) rs587777447
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe) rs587777576
NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg) rs1576227162
NM_022168.4(IFIH1):c.1178A>C (p.Asp393Ala) rs587777449
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1331A>G (p.Glu444Gly) rs1576226728
NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys) rs753383954
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr) rs587777575
NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr) rs1576226604
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg) rs672601336
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter) rs774888783
NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val) rs753599401
NM_022168.4(IFIH1):c.2156C>T (p.Ala719Val) rs1576224269
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2317G>C (p.Glu773Gln) rs201472224
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu) rs1576222845
NM_022168.4(IFIH1):c.2404A>G (p.Asn802Asp) rs1576222803
NM_022168.4(IFIH1):c.2407A>T (p.Ile803Phe) rs774958328
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp) rs1559810905
NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys) rs1238832404
NM_022168.4(IFIH1):c.2486C>G (p.Thr829Ser) rs765887304
NM_022168.4(IFIH1):c.2544T>G (p.Asp848Glu) rs1576222015
NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys) rs138373022
NM_022168.4(IFIH1):c.2866A>G (p.Ile956Val) rs1576219706
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg) rs1576229572
NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile) rs1576229572
NM_022336.4(EDAR):c.1024+1G>A rs1553444895
NM_022336.4(EDAR):c.1024+2T>C
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) rs121908452
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) rs886039564
NM_022336.4(EDAR):c.1088del (p.Thr363fs) rs1574362082
NM_022336.4(EDAR):c.1089del (p.Tyr364fs) rs1558793736
NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer) rs2105371772
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) rs886039348
NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs) rs2105371643
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) rs917638291
NM_022336.4(EDAR):c.1169del (p.Gly390fs) rs1558793621
NM_022336.4(EDAR):c.1169dup (p.Met391fs) rs1558793621
NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) rs1553443360
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) rs1696610832
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) rs1696610594
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) rs1696610594
NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)
NM_022336.4(EDAR):c.1221del (p.Ser407fs)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)
NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly) rs773885029
NM_022336.4(EDAR):c.204del (p.Tyr69fs) rs1697322263
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs) rs1558814135
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) rs1553448320
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.293G>A (p.Arg98Gln) rs144473052
NM_022336.4(EDAR):c.51+1G>A rs797044435
NM_022336.4(EDAR):c.52-25_52-8del rs1558814967
NM_022336.4(EDAR):c.641dup (p.Pro215fs)
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)
NM_022336.4(EDAR):c.803+1G>A rs797044437
NM_022336.4(EDAR):c.931del (p.Glu311fs)
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) rs749688157
NM_022336.4(EDAR):c.964-1G>A rs2105390253
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) rs1696805876
NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe) rs1054547392
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1030-18G>A
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
NM_022464.5(SIL1):c.212dup (p.His71fs)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
NM_022464.5(SIL1):c.767+1G>A
NM_022464.5(SIL1):c.88del (p.Leu30fs)
NM_022464.5(SIL1):c.936del (p.Leu313fs)
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_022464.5:c.454-6721_768-23561del
NM_022482.5(GZF1):c.1054dup (p.Thr352fs) rs1555786729
NM_022482.5(GZF1):c.1440del (p.His481fs) rs1210751666
NM_022482.5(GZF1):c.1451_1452del (p.Cys484fs) rs2123057775
NM_022482.5(GZF1):c.865G>T (p.Glu289Ter) rs1555786618
NM_022772.4(EPS8L2):c.1014del (p.Ser339fs) rs1554952443
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs) rs758700198
NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs) rs2133499883
NM_022772.4(EPS8L2):c.738del (p.Val247fs) rs1554952193
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) rs887346658
NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter) rs121909397
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) rs1641970512
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]
NM_022834.5(VWA1):c.252del (p.Glu85fs) rs767263669
NM_022834.5(VWA1):c.62_71del (p.Gly21fs) rs749383814
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_022834.5(VWA1):c.879del (p.Arg293fs) rs746212067
NM_022834.5(VWA1):c.94C>T (p.Arg32Ter) rs762573767
NM_023077.3(COA7):c.17A>G (p.Asp6Gly) rs780572767
NM_023077.3(COA7):c.247+1G>T rs1197945739
NM_023077.3(COA7):c.431del (p.Gly144fs) rs1558102464
NM_023077.3(COA7):c.446G>T (p.Ser149Ile) rs1558102448
NM_024009.3(GJB3):c.421A>G (p.Ile141Val) rs74315320
NM_024009.3(GJB3):c.421_423del (p.Ile141del) rs770247378
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) rs1557659237
NM_024022.4:c.1180_1187delinsN1234
NM_024057.4(NUP37):c.153_156+3del rs770156086
NM_024057.4(NUP37):c.225dup (p.Asp76Ter) rs1309880692
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024298.5(MBOAT7):c.423del (p.Leu142fs) rs886041059
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs) rs886041061
NM_024298.5(MBOAT7):c.854+1G>C rs886041060
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer) rs587777823
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter) rs104894689
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024301.5(FKRP):c.960_970del (p.Ala321fs) rs1599937963
NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter) rs1313895172
NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys) rs997026784
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
NM_024417.5(FDXR):c.643C>G (p.Leu215Val) rs1555620021
NM_024570.4(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_024570.4(RNASEH2B):c.129dup (p.Cys44fs) rs2137925083
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.476del (p.Ser159fs) rs2137982729
NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)
NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs) rs1951857498
NM_024570.4(RNASEH2B):c.4del (p.Ala2fs) rs2137866137
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.63del (p.Glu22fs) rs2137866660
NM_024570.4(RNASEH2B):c.648del (p.Ser217fs)
NM_024570.4(RNASEH2B):c.69T>A (p.Tyr23Ter)
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
NM_024570.4(RNASEH2B):c.83C>G (p.Ser28Ter)
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser) rs763132789
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter) rs1330065864
NM_024580.6(EFL1):c.2478dup (p.Gly827fs) rs1380341628
NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly) rs2141228362
NM_024592.5(SRD5A3):c.204dup (p.Phe69fs) rs869320736
NM_024596.5(MCPH1):c.147C>G (p.His49Gln) rs1488084787
NM_024596.5(MCPH1):c.22+2_22+4del rs1554471681
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) rs759663956
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer)
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024596.5(MCPH1):c.586del (p.Gln196fs) rs1803595754
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)
NM_024640.4(YRDC):c.251C>T (p.Ala84Val) rs1646752498
NM_024640.4(YRDC):c.662T>C (p.Ile221Thr) rs2148390396
NM_024640.4(YRDC):c.721_724del (p.Val241fs) rs747256043
NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del) rs1646718218
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
NM_024649.4:c.160-?_1110+?del
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1025dup (p.Leu343fs) rs2134797289
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
NM_024649.5(BBS1):c.103dup (p.His35fs)
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1214_1215insSVA
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.1235del (p.Gly412fs) rs1856517666
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter) rs1856520165
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs) rs1166459319
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
NM_024649.5(BBS1):c.145del (p.Asp49fs) rs1855937296
NM_024649.5(BBS1):c.1473+2T>C rs1856699646
NM_024649.5(BBS1):c.1491del (p.Thr498fs) rs2134836723
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter) rs2134836882
NM_024649.5(BBS1):c.1564del (p.Leu522fs) rs2134837160
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
NM_024649.5(BBS1):c.1614del (p.Leu539fs) rs1856785950
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter) rs1856788934
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.1695+1G>A rs2134841394
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.1A>G (p.Met1Val) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter) rs138744839
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.331del (p.Cys111fs)
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter) rs1856011993
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter) rs2134771631
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>G
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) rs777143614
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.667del (p.Thr223fs)
NM_024649.5(BBS1):c.688del (p.Val230fs) rs1856141939
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024649.5(BBS1):c.723+2T>G
NM_024649.5(BBS1):c.724-8_726del rs1856202628
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
NM_024649.5(BBS1):c.830+350_1110+217del
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+1G>C
NM_024649.5(BBS1):c.951+1G>T rs746875134
NM_024649.5(BBS1):c.951+2T>A
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024649.5(BBS1):c.[1285C>T];[908del]
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp) rs1363498219
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer) rs2136090624
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs) rs2136090423
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1330del (p.Ser444fs) rs2136090382
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs) rs1389599028
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_024685.4(BBS10):c.1338dup (p.Ile447fs)
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter) rs778731343
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
NM_024685.4(BBS10):c.1447dup (p.Thr483fs) rs759185809
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs) rs1565809597
NM_024685.4(BBS10):c.1453dup (p.Thr485fs) rs2136090243
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs) rs1951758972
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter) rs1951758601
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs) rs2136090126
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter) rs2136090024
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs) rs2136089877
NM_024685.4(BBS10):c.1834del (p.Tyr612fs) rs2136089858
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.197+1G>A rs886042729
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2044dup (p.Met682fs) rs2136089682
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.258del (p.Phe86fs) rs1951773957
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.306_309del (p.Asp102fs) rs745497072
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.313_314del (p.Lys105fs) rs2136091240
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.35dup (p.Ala13fs) rs2136091633
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter) rs1565810183
NM_024685.4(BBS10):c.391del (p.Gln131fs)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter) rs2136091166
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter) rs199998327
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
NM_024685.4(BBS10):c.455_456del (p.His152fs) rs2136091120
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
NM_024685.4(BBS10):c.467del (p.Ile156fs) rs2136091103
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
NM_024685.4(BBS10):c.490dup (p.Thr164fs) rs2136091086
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser) rs1951767864
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.598A>T (p.Lys200Ter) rs1951767589
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.804_805del (p.Ser269fs) rs1472533012
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter) rs2136090788
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer) rs2136090739
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) rs750665609
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_024735.5(FBXO31):c.847_852delinsA (p.Cys283fs) rs587777703
NM_024753.5(TTC21B):c.1001del (p.Met334fs)
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs) rs2105344608
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)
NM_024753.5(TTC21B):c.1088-1G>A
NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)
NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter) rs749794837
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)
NM_024753.5(TTC21B):c.1176_1185+1del rs1686809735
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs) rs2105343139
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter) rs769816345
NM_024753.5(TTC21B):c.140del (p.Thr47fs)
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter) rs199559023
NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter) rs387907059
NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)
NM_024753.5(TTC21B):c.1840del (p.Ser614fs)
NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs) rs2105324384
NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)
NM_024753.5(TTC21B):c.2070del (p.Arg691fs)
NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter) rs1559053862
NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)
NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)
NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter) rs895624584
NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)
NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter) rs1685569880
NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs) rs2105292027
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs) rs2105292022
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter) rs2105291990
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs) rs2105291970
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter) rs2105291727
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs) rs2105291679
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter) rs772612775
NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) rs1553506530
NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)
NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)
NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)
NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)
NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)
NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)
NM_024753.5(TTC21B):c.433del (p.His145fs)
NM_024753.5(TTC21B):c.459del (p.Thr154fs)
NM_024753.5(TTC21B):c.497del (p.Lys166fs) rs2105363277
NM_024753.5(TTC21B):c.913del (p.Ile305fs)
NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter) rs886037950
NM_024915.4(GRHL2):c.1258-1G>A rs398123006
NM_024915.4(GRHL2):c.1609dup (p.Arg537fs) rs398122997
NM_024989.4(PGAP1):c.1090-2A>G rs869025581
NM_024989.4(PGAP1):c.1221-3A>G rs1701868598
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs) rs781325598
NM_024989.4(PGAP1):c.1501-2A>G rs1288514578
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter) rs869025578
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
NM_024989.4(PGAP1):c.1952+1G>T rs587777202
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.274_276del (p.Pro92del) rs869025579
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter) rs1410587479
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter) rs1702534679
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs) rs869025580
NM_025009.5(CEP135):c.1376_1379del (p.Lys459fs) rs777869134
NM_025009.5(CEP135):c.1473+1G>A rs1085307120
NM_025009.5(CEP135):c.2930_2931del (p.Leu977fs) rs1553895368
NM_025009.5(CEP135):c.3118_3121del (p.Asn1040fs) rs751437333
NM_025009.5(CEP135):c.970del (p.Gln324fs) rs202247811
NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer) rs886037765
NM_025074.7(FRAS1):c.10541-1G>A rs1721385740
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter) rs1006839535
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter) rs1721821279
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter) rs1219344385
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter) rs1727394990
NM_025074.7(FRAS1):c.11270_11273del (p.Lys3757fs) rs1578380159
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter) rs765622092
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs) rs1560433104
NM_025074.7(FRAS1):c.1399+1G>A rs1727490024
NM_025074.7(FRAS1):c.2376del (p.Ser793fs)
NM_025074.7(FRAS1):c.2692del (p.His898fs) rs2110296712
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter) rs1725182255
NM_025074.7(FRAS1):c.3293-2A>T rs2110319166
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter) rs120074158
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs) rs1732856311
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter) rs120074159
NM_025074.7(FRAS1):c.4465del (p.Leu1489fs) rs1257736144
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5166del (p.Val1723fs) rs2110390266
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs) rs1734259370
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter) rs1432850828
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs) rs753831692
NM_025074.7(FRAS1):c.5664_5665+19delinsT rs886037766
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs) rs1725743022
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs) rs1718790934
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs) rs1718847595
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter) rs1578330963
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.688-5T>G rs775548230
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) rs2109847651
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025074.7(FRAS1):c.8098+1G>T rs376088537
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter) rs120074156
NM_025074.7(FRAS1):c.8922del (p.Asp2975fs)
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter) rs120074157
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter) rs1227013948
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter) rs377369857
NM_025077.4(TOE1):c.-4_3dup (p.Ala2fs) rs1646822375
NM_025083.5(EDC3):c.161T>C (p.Phe54Ser) rs1057517676
NM_025103.4(IFT74):c.371_372del (p.Gln124fs) rs2131541114
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.4(CEP290):c.-8_2del (p.Met1fs) rs2040644607
NM_025114.4(CEP290):c.1006dup (p.Glu336fs)
NM_025114.4(CEP290):c.102+1G>T rs2040637111
NM_025114.4(CEP290):c.103-1G>T rs863225188
NM_025114.4(CEP290):c.1039A>T (p.Lys347Ter)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.106G>T (p.Glu36Ter)
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929
NM_025114.4(CEP290):c.1096del (p.Met366fs)
NM_025114.4(CEP290):c.1163T>A (p.Leu388Ter)
NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter) rs2138000998
NM_025114.4(CEP290):c.1189+1G>A rs2039659434
NM_025114.4(CEP290):c.1189+2T>C
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1225del (p.Ile409fs) rs1287628446
NM_025114.4(CEP290):c.1232C>G (p.Ser411Ter)
NM_025114.4(CEP290):c.1247T>G (p.Leu416Ter) rs1269182131
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1273del (p.Arg425fs)
NM_025114.4(CEP290):c.1296_1299dup (p.Ala434Ter)
NM_025114.4(CEP290):c.1318G>T (p.Glu440Ter) rs2137917114
NM_025114.4(CEP290):c.1338del (p.Arg447fs) rs2039364798
NM_025114.4(CEP290):c.133del (p.Gln45fs)
NM_025114.4(CEP290):c.1347dup (p.Asp450fs) rs774490795
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter) rs1437841365
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer) rs2039321844
NM_025114.4(CEP290):c.1400del (p.Asn467fs) rs2137903965
NM_025114.4(CEP290):c.1405A>T (p.Lys469Ter) rs1361189290
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1435_1436del (p.Glu478_Ile479insTer)
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1480del (p.Ser494fs)
NM_025114.4(CEP290):c.1501G>T (p.Glu501Ter)
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.1518dup (p.Val507fs)
NM_025114.4(CEP290):c.1550dup (p.Leu517fs) rs62640579
NM_025114.4(CEP290):c.1585C>T (p.Gln529Ter)
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.1616del (p.Leu538_Leu539insTer)
NM_025114.4(CEP290):c.1623+1G>A rs863225186
NM_025114.4(CEP290):c.1623+5G>A rs1555222073
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs) rs727503855
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1668del (p.Arg557fs) rs2039204524
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter) rs1592706963
NM_025114.4(CEP290):c.1675del (p.Met559fs) rs2137868361
NM_025114.4(CEP290):c.167dup (p.Ser57fs) rs2138297703
NM_025114.4(CEP290):c.1681C>T (p.Gln561Ter)
NM_025114.4(CEP290):c.1709C>G (p.Ser570Ter) rs1272411609
NM_025114.4(CEP290):c.1711+2T>A
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter) rs867094910
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
NM_025114.4(CEP290):c.1790_1805del (p.Leu596_Leu597insTer)
NM_025114.4(CEP290):c.1798A>T (p.Lys600Ter) rs2137836218
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.180+1G>T
NM_025114.4(CEP290):c.1802del (p.Asn601fs)
NM_025114.4(CEP290):c.1805del (p.Met602fs)
NM_025114.4(CEP290):c.180G>A (p.Lys60=)
NM_025114.4(CEP290):c.1816C>T (p.Gln606Ter)
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1844_1845dup (p.Leu616fs)
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs) rs386834151
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs) rs1033594764
NM_025114.4(CEP290):c.190C>T (p.Gln64Ter) rs1166981120
NM_025114.4(CEP290):c.1910-11T>G rs1555220638
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter) rs2038919221
NM_025114.4(CEP290):c.1989dup (p.Asp664fs)
NM_025114.4(CEP290):c.1992del (p.Pro665fs) rs770175184
NM_025114.4(CEP290):c.1A>G (p.Met1Val) rs2040644756
NM_025114.4(CEP290):c.2047_2050del (p.Val683fs)
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2140G>T (p.Glu714Ter) rs1440259390
NM_025114.4(CEP290):c.2144T>G (p.Leu715Ter)
NM_025114.4(CEP290):c.2149C>T (p.Gln717Ter)
NM_025114.4(CEP290):c.214G>T (p.Glu72Ter)
NM_025114.4(CEP290):c.2191C>T (p.Gln731Ter)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer) rs2137720951
NM_025114.4(CEP290):c.2218_2222del (p.Ile740fs) rs2137713030
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter) rs2137711696
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
NM_025114.4(CEP290):c.2317dup (p.Ser773fs) rs1555218898
NM_025114.4(CEP290):c.2340_2341del (p.Gln780_Asn781insTer)
NM_025114.4(CEP290):c.2368-1G>T rs2137665576
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2406del (p.Asp803fs)
NM_025114.4(CEP290):c.2433del (p.Lys811fs) rs2137663442
NM_025114.4(CEP290):c.2455C>T (p.Gln819Ter)
NM_025114.4(CEP290):c.2484-2A>C
NM_025114.4(CEP290):c.2497del (p.Trp833fs) rs2137624524
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter) rs2137624440
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.254del (p.Asn85fs)
NM_025114.4(CEP290):c.254dup (p.Asn85fs) rs2138259100
NM_025114.4(CEP290):c.2554C>T (p.Gln852Ter)
NM_025114.4(CEP290):c.2557C>T (p.Gln853Ter) rs2038335853
NM_025114.4(CEP290):c.2567dup (p.Val858fs)
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
NM_025114.4(CEP290):c.256_259del (p.Asn85_Gln86insTer) rs2138258864
NM_025114.4(CEP290):c.2571del (p.Lys857_Val858insTer)
NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)
NM_025114.4(CEP290):c.2587-1G>A
NM_025114.4(CEP290):c.2587-1G>T
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2615C>A (p.Ser872Ter)
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.4(CEP290):c.2668del (p.Gln890fs)
NM_025114.4(CEP290):c.2682del (p.Lys894fs)
NM_025114.4(CEP290):c.2689dup (p.Ile897fs)
NM_025114.4(CEP290):c.2695C>T (p.Gln899Ter)
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
NM_025114.4(CEP290):c.272_276del (p.Val91fs) rs2040498071
NM_025114.4(CEP290):c.2732_2735del (p.Arg911fs) rs2137614623
NM_025114.4(CEP290):c.2737G>T (p.Glu913Ter)
NM_025114.4(CEP290):c.2746A>T (p.Lys916Ter)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2801_2802del (p.Cys934fs)
NM_025114.4(CEP290):c.2887G>T (p.Glu963Ter) rs1180594304
NM_025114.4(CEP290):c.2902C>T (p.Gln968Ter) rs1592574519
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs) rs2040497202
NM_025114.4(CEP290):c.2933del (p.Asp978fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2958del (p.Val987fs)
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.297+1G>C
NM_025114.4(CEP290):c.297+1del rs2138257533
NM_025114.4(CEP290):c.3012del (p.Glu1005fs) rs1555213204
NM_025114.4(CEP290):c.3013G>T (p.Glu1005Ter) rs2037478393
NM_025114.4(CEP290):c.3022G>T (p.Glu1008Ter) rs2037477197
NM_025114.4(CEP290):c.3023_3024insCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAACAAGTGGA (p.Glu1008delinsAspLeuTer) rs2137425453
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter) rs1555212271
NM_025114.4(CEP290):c.3150dup (p.Asp1051Ter) rs2137368561
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3176del (p.Ile1059fs) rs863225184
NM_025114.4(CEP290):c.3178_3181del (p.Thr1060fs) rs1450189463
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3205G>T (p.Glu1069Ter) rs2137365958
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter) rs1555212150
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs) rs2037226237
NM_025114.4(CEP290):c.3249dup (p.Arg1084fs) rs2037226237
NM_025114.4(CEP290):c.3265C>T (p.Gln1089Ter)
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3286G>T (p.Glu1096Ter)
NM_025114.4(CEP290):c.3309G>A (p.Glu1103=)
NM_025114.4(CEP290):c.3310-1G>A
NM_025114.4(CEP290):c.3310-1_3310delinsAA rs2037150824
NM_025114.4(CEP290):c.3310-2A>G rs2137345150
NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter) rs2137344539
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter) rs2040373653
NM_025114.4(CEP290):c.3390_3393del (p.Ser1131fs) rs2137342973
NM_025114.4(CEP290):c.3418G>T (p.Glu1140Ter)
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs) rs770474857
NM_025114.4(CEP290):c.3451G>T (p.Glu1151Ter)
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3493C>T (p.Gln1165Ter) rs2036977924
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter) rs2036975289
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter) rs2036974151
NM_025114.4(CEP290):c.3533del (p.Lys1178fs) rs2036971853
NM_025114.4(CEP290):c.355C>T (p.Gln119Ter) rs2138215835
NM_025114.4(CEP290):c.3571C>T (p.Gln1191Ter)
NM_025114.4(CEP290):c.3573+1G>C rs1339320666
NM_025114.4(CEP290):c.3573+1G>T rs1339320666
NM_025114.4(CEP290):c.3573+1del rs2137301783
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter) rs372640024
NM_025114.4(CEP290):c.361G>T (p.Glu121Ter) rs2138215714
NM_025114.4(CEP290):c.3633_3637del (p.Gln1211_Leu1212insTer) rs2137279498
NM_025114.4(CEP290):c.3643_3652del (p.Ala1215fs)
NM_025114.4(CEP290):c.366del (p.Lys122fs)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3721A>T (p.Lys1241Ter)
NM_025114.4(CEP290):c.3730G>T (p.Glu1244Ter) rs2137277291
NM_025114.4(CEP290):c.3738del (p.Glu1246fs)
NM_025114.4(CEP290):c.3741_3752dup (p.Tyr1251Ter)
NM_025114.4(CEP290):c.3745_3748del (p.Leu1249fs) rs2137276301
NM_025114.4(CEP290):c.3761dup (p.Leu1254fs) rs750520052
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs) rs765483163
NM_025114.4(CEP290):c.3783del (p.Lys1261fs) rs2036833257
NM_025114.4(CEP290):c.3786_3798del (p.His1262fs)
NM_025114.4(CEP290):c.3803del (p.Gln1268fs) rs2036830890
NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs) rs1565846034
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter) rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs) rs1288619268
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3884dup (p.Asn1295fs)
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
NM_025114.4(CEP290):c.3917del (p.Asn1306fs)
NM_025114.4(CEP290):c.3925C>T (p.Gln1309Ter) rs2036816455
NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter) rs774705706
NM_025114.4(CEP290):c.3956del (p.Leu1319fs) rs2137269723
NM_025114.4(CEP290):c.3988G>T (p.Glu1330Ter)
NM_025114.4(CEP290):c.3992T>A (p.Leu1331Ter)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4041G>A (p.Trp1347Ter) rs2137251821
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs) rs2036720274
NM_025114.4(CEP290):c.4057G>T (p.Glu1353Ter)
NM_025114.4(CEP290):c.4069C>T (p.Gln1357Ter)
NM_025114.4(CEP290):c.4076_4077del (p.Leu1359fs)
NM_025114.4(CEP290):c.4078_4081del (p.Leu1359_Lys1360insTer) rs2036717675
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4096_4099del (p.Val1366fs)
NM_025114.4(CEP290):c.4115_4116del (p.Ile1372fs) rs62640582
NM_025114.4(CEP290):c.4115_4118del (p.Ile1372fs)
NM_025114.4(CEP290):c.4121del (p.Tyr1374fs)
NM_025114.4(CEP290):c.4124T>A (p.Leu1375Ter)
NM_025114.4(CEP290):c.4133_4134del (p.Ile1378fs)
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
NM_025114.4(CEP290):c.4160_4164delinsATGAACGTACATAATTTCTGAATATGAA (p.Ser1387_Ser1388delinsAsnGluArgThrTer) rs2137248487
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4195-1G>T rs751807811
NM_025114.4(CEP290):c.4201G>T (p.Glu1401Ter)
NM_025114.4(CEP290):c.420del (p.Glu141fs)
NM_025114.4(CEP290):c.4263del (p.Phe1421fs) rs2137219551
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer) rs863224523
NM_025114.4(CEP290):c.4322C>G (p.Ser1441Ter)
NM_025114.4(CEP290):c.4384G>T (p.Glu1462Ter)
NM_025114.4(CEP290):c.4384del (p.Glu1462fs) rs863225182
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4453G>T (p.Glu1485Ter)
NM_025114.4(CEP290):c.4535del (p.Thr1512fs)
NM_025114.4(CEP290):c.4561G>T (p.Glu1521Ter)
NM_025114.4(CEP290):c.4562dup (p.Leu1522fs)
NM_025114.4(CEP290):c.4576G>T (p.Glu1526Ter)
NM_025114.4(CEP290):c.457G>T (p.Glu153Ter)
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4634_4637dup (p.Gln1546fs)
NM_025114.4(CEP290):c.4648_4649insCA (p.Asn1550fs) rs2137183334
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.4705G>T (p.Glu1569Ter) rs2137170285
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4763T>G (p.Leu1588Ter) rs760653238
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4798A>T (p.Lys1600Ter)
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs) rs2036372197
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter) rs886039808
NM_025114.4(CEP290):c.4820dup (p.Met1607fs)
NM_025114.4(CEP290):c.4825C>T (p.Gln1609Ter) rs2137156392
NM_025114.4(CEP290):c.4825_4826del (p.Gln1609fs)
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.483del (p.Lys161fs)
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs) rs2036318355
NM_025114.4(CEP290):c.4879G>T (p.Glu1627Ter)
NM_025114.4(CEP290):c.4879dup (p.Glu1627fs)
NM_025114.4(CEP290):c.4897C>T (p.Gln1633Ter)
NM_025114.4(CEP290):c.4909_4910del (p.Leu1637fs)
NM_025114.4(CEP290):c.4916C>A (p.Ser1639Ter)
NM_025114.4(CEP290):c.4933A>T (p.Lys1645Ter)
NM_025114.4(CEP290):c.4943_4944insTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATC (p.Gln1649_Asp1650insTerGln)
NM_025114.4(CEP290):c.4945C>T (p.Gln1649Ter) rs2137152484
NM_025114.4(CEP290):c.4954G>T (p.Glu1652Ter)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4963del (p.Arg1655fs)
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs) rs2036306894
NM_025114.4(CEP290):c.4990G>T (p.Glu1664Ter)
NM_025114.4(CEP290):c.5002dup (p.Ile1668fs) rs2137151163
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs) rs2137150860
NM_025114.4(CEP290):c.5011C>T (p.Gln1671Ter)
NM_025114.4(CEP290):c.5029_5030del (p.Glu1677fs)
NM_025114.4(CEP290):c.5046del (p.Lys1682_Val1683insTer)
NM_025114.4(CEP290):c.5086C>T (p.Gln1696Ter)
NM_025114.4(CEP290):c.5092C>T (p.Gln1698Ter)
NM_025114.4(CEP290):c.5098G>T (p.Glu1700Ter)
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs) rs766259648
NM_025114.4(CEP290):c.5127_5143del (p.Ala1710fs) rs2137103699
NM_025114.4(CEP290):c.5130del (p.Gln1711fs)
NM_025114.4(CEP290):c.5136_5139del (p.Glu1713fs) rs995093343
NM_025114.4(CEP290):c.5137G>T (p.Glu1713Ter)
NM_025114.4(CEP290):c.5147C>A (p.Ser1716Ter)
NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter) rs1367899236
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.4(CEP290):c.5217del (p.Lys1739fs) rs2137101209
NM_025114.4(CEP290):c.5221C>T (p.Gln1741Ter)
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) rs748471942
NM_025114.4(CEP290):c.5277dup (p.Glu1760Ter)
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter) rs774410421
NM_025114.4(CEP290):c.532C>T (p.Gln178Ter) rs2039993548
NM_025114.4(CEP290):c.5348_5351del (p.His1783fs) rs2137080156
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5416A>T (p.Lys1806Ter)
NM_025114.4(CEP290):c.5418_5422del (p.Lys1806_Thr1807insTer)
NM_025114.4(CEP290):c.5423_5426del (p.Ser1808fs)
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5468_5471del (p.Asn1823fs)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5509_5512del (p.Leu1837fs)
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5519_5537del (p.Lys1840fs)
NM_025114.4(CEP290):c.5557C>T (p.Gln1853Ter)
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter) rs2137056192
NM_025114.4(CEP290):c.5584C>T (p.Gln1862Ter)
NM_025114.4(CEP290):c.558_561del (p.Asp188fs)
NM_025114.4(CEP290):c.5596del (p.Pro1865_Leu1866insTer)
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5614del (p.Ser1872fs)
NM_025114.4(CEP290):c.5632C>T (p.Gln1878Ter) rs2137050478
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5709+2T>G
NM_025114.4(CEP290):c.5714del (p.Ala1905fs) rs2136966486
NM_025114.4(CEP290):c.5722G>T (p.Glu1908Ter)
NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) rs754728136
NM_025114.4(CEP290):c.574_577del (p.Glu192fs)
NM_025114.4(CEP290):c.5750del (p.Lys1917fs)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
NM_025114.4(CEP290):c.5766_5769del (p.Ile1922fs)
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5783del (p.Lys1928fs) rs2136964738
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.5790del (p.Glu1931fs) rs2136964542
NM_025114.4(CEP290):c.5791_5794del (p.Glu1931fs) rs2136964385
NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs)
NM_025114.4(CEP290):c.579_580del (p.Leu194fs)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5805dup (p.Val1936fs)
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5816dup (p.Leu1939fs)
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
NM_025114.4(CEP290):c.5828del (p.Gln1942_Leu1943insTer)
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5854A>T (p.Lys1952Ter) rs2035393800
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs) rs2035367210
NM_025114.4(CEP290):c.587C>G (p.Ser196Ter)
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
NM_025114.4(CEP290):c.5962G>T (p.Glu1988Ter) rs2035358840
NM_025114.4(CEP290):c.5972del (p.Lys1991fs) rs1468269366
NM_025114.4(CEP290):c.597_648del (p.Glu200fs) rs2039985700
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs) rs2035124136
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.4(CEP290):c.6076C>T (p.Gln2026Ter)
NM_025114.4(CEP290):c.6079del (p.Glu2027fs) rs2136911634
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6103del (p.Gln2035fs) rs2136910908
NM_025114.4(CEP290):c.6135+1G>A rs2035114607
NM_025114.4(CEP290):c.6154_6161del (p.Asp2052fs) rs867904492
NM_025114.4(CEP290):c.6156_6159del (p.Asp2053fs)
NM_025114.4(CEP290):c.6170_6173del (p.Arg2057fs)
NM_025114.4(CEP290):c.6175C>T (p.Gln2059Ter)
NM_025114.4(CEP290):c.6187A>T (p.Lys2063Ter) rs2136814350
NM_025114.4(CEP290):c.6249_6252del (p.Asn2083fs)
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.635_636insG (p.Asn212fs)
NM_025114.4(CEP290):c.635_636insT (p.Tyr213fs)
NM_025114.4(CEP290):c.635del (p.Asn212fs)
NM_025114.4(CEP290):c.635dup (p.Asn212fs) rs769091629
NM_025114.4(CEP290):c.6360dup (p.Gly2121fs)
NM_025114.4(CEP290):c.6377_6378del (p.Thr2126fs)
NM_025114.4(CEP290):c.6417dup (p.Val2140fs)
NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs) rs2136751258
NM_025114.4(CEP290):c.6424dup (p.Glu2142fs)
NM_025114.4(CEP290):c.6439G>T (p.Glu2147Ter) rs1234975160
NM_025114.4(CEP290):c.6447del (p.Glu2149fs) rs1157238971
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6487dup (p.Met2163fs) rs2136748724
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6516dup (p.Leu2173fs) rs1057519165
NM_025114.4(CEP290):c.6537del (p.Lys2179fs) rs2136728464
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.661G>T (p.Glu221Ter) rs2138093974
NM_025114.4(CEP290):c.6624del (p.Arg2208fs) rs2136725569
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter) rs2034330893
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
NM_025114.4(CEP290):c.6645del (p.Glu2216fs) rs2136724878
NM_025114.4(CEP290):c.664del (p.Ile222fs) rs2138093868
NM_025114.4(CEP290):c.6661G>T (p.Glu2221Ter)
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs) rs2034235109
NM_025114.4(CEP290):c.6769C>T (p.Gln2257Ter) rs2136704614
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) rs2033943937
NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
NM_025114.4(CEP290):c.6841G>T (p.Glu2281Ter) rs2136656497
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) rs2033937635
NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)
NM_025114.4(CEP290):c.6917_6920del (p.Arg2306fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.6919_6920dup (p.Gln2308fs) rs1177923180
NM_025114.4(CEP290):c.6927del (p.Val2310fs)
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.4(CEP290):c.694dup (p.Ile232fs)
NM_025114.4(CEP290):c.6992del (p.Ala2331fs)
NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter) rs1414041522
NM_025114.4(CEP290):c.7003dup (p.Gln2335fs)
NM_025114.4(CEP290):c.7015del (p.Arg2339fs)
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.7031_7034+7delinsAT
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.7127del (p.Pro2376fs)
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7171_7172del (p.Gln2391fs) rs768864797
NM_025114.4(CEP290):c.7175_7176del (p.Leu2392fs)
NM_025114.4(CEP290):c.718A>T (p.Arg240Ter)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7209+1G>A
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.725dup (p.Asn242fs)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter) rs2136547054
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) rs1482471100
NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter) rs2136546348
NM_025114.4(CEP290):c.730G>T (p.Glu244Ter) rs2138086329
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7331del (p.Lys2444fs)
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs)
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.737_738del (p.Ser246fs) rs2039957886
NM_025114.4(CEP290):c.742C>T (p.Gln248Ter) rs2138085855
NM_025114.4(CEP290):c.802_803del (p.Thr267_Asp268insTer)
NM_025114.4(CEP290):c.816del (p.Gln273fs)
NM_025114.4(CEP290):c.817C>T (p.Gln273Ter)
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs) rs1489175048
NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer) rs2138083048
NM_025114.4(CEP290):c.84del (p.Leu28fs)
NM_025114.4(CEP290):c.850C>T (p.Gln284Ter)
NM_025114.4(CEP290):c.881C>A (p.Ser294Ter)
NM_025114.4(CEP290):c.955del (p.Ser319fs) rs764507012
NM_025114.4(CEP290):c.976_979del (p.Glu326fs)
NM_025114.4(CEP290):c.985C>T (p.Gln329Ter) rs2138023519
NM_025114.4(CEP290):c.[1429C>T];[322C>T]
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly) rs387906983
NM_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.142dup (p.Arg48fs) rs1577823005
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys) rs1215108056
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
NM_025132.4(WDR19):c.1777+1del
NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro) rs2109358597
NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs) rs1730535406
NM_025132.4(WDR19):c.203T>A (p.Val68Asp) rs786204852
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter) rs1731221844
NM_025132.4(WDR19):c.2337del (p.Glu780fs)
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter) rs1232301082
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs) rs2109377653
NM_025132.4(WDR19):c.2481dup (p.Arg828fs) rs2109405851
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2645+1G>T rs1237821935
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2797del (p.Asp933fs)
NM_025132.4(WDR19):c.2972del (p.Asn991fs)
NM_025132.4(WDR19):c.3068dup (p.Tyr1023Ter) rs786205114
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3457del (p.Ile1153fs)
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.407-2A>G rs374400438
NM_025132.4(WDR19):c.422_423del (p.Arg141fs)
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter) rs1273811425
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)
NM_025132.4(WDR19):c.632dup (p.Leu211fs) rs2109299952
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter) rs587777350
NM_025132.4(WDR19):c.697_701dup (p.Val235fs)
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)
NM_025132.4(WDR19):c.812del (p.Ala271fs)
NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)
NM_025132.4(WDR19):c.956del (p.Asn319fs) rs2109322891
NM_025216.3(WNT10A):c.1018G>T (p.Glu340Ter)
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
NM_025216.3(WNT10A):c.1046del (p.Glu349fs)
NM_025216.3(WNT10A):c.1063del (p.Ala355fs) rs2106018668
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs) rs2106018717
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly) rs1487577386
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) rs121908122
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs) rs1944678383
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) rs750260671
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter) rs1553623389
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr) rs1575235227
NM_025216.3(WNT10A):c.152del (p.Pro51fs)
NM_025216.3(WNT10A):c.1A>G (p.Met1Val)
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu) rs1221516695
NM_025216.3(WNT10A):c.251dup (p.Ala85fs)
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter) rs121908123
NM_025216.3(WNT10A):c.295del (p.Gln99fs) rs2106011673
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter) rs886055642
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter) rs2106011732
NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)
NM_025216.3(WNT10A):c.380del (p.Phe127fs)
NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)
NM_025216.3(WNT10A):c.386del (p.Glu129fs)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter) rs561173643
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs) rs2106016170
NM_025216.3(WNT10A):c.532C>T (p.Gln178Ter)
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs) rs2106016227
NM_025216.3(WNT10A):c.547C>T (p.Gln183Ter)
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs) rs2106010718
NM_025216.3(WNT10A):c.574del (p.Val192fs)
NM_025216.3(WNT10A):c.580del (p.Glu194fs) rs2106016293
NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)
NM_025216.3(WNT10A):c.648del (p.Asp217fs) rs2106016375
NM_025216.3(WNT10A):c.673del (p.Ser225fs)
NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.694dup (p.Arg232fs)
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter) rs121908118
NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.717del (p.His239fs) rs1944636041
NM_025216.3(WNT10A):c.756+1G>A rs1944637150
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) rs1011303295
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter) rs1332945612
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter) rs2106018205
NM_025216.3(WNT10A):c.844G>T (p.Glu282Ter)
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs) rs2106018239
NM_025216.3(WNT10A):c.85del (p.Leu29fs) rs781237311
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs) rs1553623281
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs) rs1371718238
NM_025216.3(WNT10A):c.909_916del (p.His303fs) rs1944671913
NM_025216.3(WNT10A):c.932dup (p.Pro312fs) rs2106018397
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.949dup (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.956C>A (p.Ser319Ter)
NM_025216.3(WNT10A):c.981_993dup (p.Ser332fs)
NM_025216.3(WNT10A):c.982_986dup (p.Arg330fs)
NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs) rs1203128182
NM_025216.3(WNT10A):c.993del (p.Ser332fs) rs2106018559
NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln) rs869320632
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del) rs1567502140
NM_030928.4(CDT1):c.1276-24A>G rs2142945856
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter) rs147914553
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
NM_030928.4(CDT1):c.351G>C (p.Gln117His) rs779871947
NM_030928.4(CDT1):c.832+1G>A rs587780305
NM_030943.4(AMN):c.1006+11_1008del rs1566829097
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) rs2139312594
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) rs2139308896
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_030943.4(AMN):c.493dup (p.Ser165fs)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_031466.8(TRAPPC9):c.-124dup rs765943218
NM_031471.6(FERMT3):c.1029+2T>C rs1591038507
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) rs121918295
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
NM_031471.6(FERMT3):c.161-2A>C rs1286499329
NM_031471.6(FERMT3):c.1671-2A>G rs2134903776
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) rs121918296
NM_031471.6(FERMT3):c.540del (p.Met181fs) rs2134845306
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) rs1591028090
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) rs121918298
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) rs1591037806
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
NM_031471.6(FERMT3):c.921del (p.Ser307fs) rs2134880586
NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)
NM_031475.3(ESPN):c.1916-1G>C rs1643944047
NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs) rs1569726455
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs) rs2148538836
NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del) rs1557720377
NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs) rs1569770998
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1015del (p.Arg339fs)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.110del (p.Thr37fs) rs2144214319
NM_031885.5(BBS2):c.113del (p.Gly38fs) rs2144214277
NM_031885.5(BBS2):c.1148_1149dup (p.His384fs)
NM_031885.5(BBS2):c.1161del (p.Ser388fs) rs2144145429
NM_031885.5(BBS2):c.1162_1163del (p.Val389fs)
NM_031885.5(BBS2):c.1163C>A (p.Ser388Ter)
NM_031885.5(BBS2):c.1179_1180del (p.Asn393fs)
NM_031885.5(BBS2):c.118-1G>C rs587777825
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1218_1219insGTAATGG (p.Ser407fs) rs2144145120
NM_031885.5(BBS2):c.1221_1222insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTCGCATTTCCACTTCT (p.Asn408delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaIleValTyrTer)
NM_031885.5(BBS2):c.1225+1del
NM_031885.5(BBS2):c.1310_1344del (p.Leu437fs)
NM_031885.5(BBS2):c.1346_1347del (p.Lys449fs)
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1393del (p.Ser465fs)
NM_031885.5(BBS2):c.1465del (p.Leu489fs)
NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs) rs1363846772
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
NM_031885.5(BBS2):c.1572_1575del (p.His525fs) rs2144134877
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1662del (p.Thr555fs)
NM_031885.5(BBS2):c.1662dup (p.Thr555fs) rs2144132870
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter) rs1555521501
NM_031885.5(BBS2):c.175del (p.Gln59fs) rs2144193544
NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) rs1964155109
NM_031885.5(BBS2):c.1767T>G (p.Tyr589Ter)
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1800_1801insT (p.Asp601Ter)
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs) rs1964134678
NM_031885.5(BBS2):c.1811_1821del (p.His604fs)
NM_031885.5(BBS2):c.1822C>T (p.Gln608Ter)
NM_031885.5(BBS2):c.1843dup (p.Ala615fs) rs1199538371
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1922del (p.Lys641fs)
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter) rs1963758780
NM_031885.5(BBS2):c.1932T>G (p.Tyr644Ter) rs1044072013
NM_031885.5(BBS2):c.1969G>T (p.Gly657Ter) rs1166717771
NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter) rs895581773
NM_031885.5(BBS2):c.1997_1998del (p.Thr666fs)
NM_031885.5(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.5(BBS2):c.2059+1G>T rs2144095211
NM_031885.5(BBS2):c.2104_2110del (p.Ile702fs) rs2144093084
NM_031885.5(BBS2):c.212_226del (p.Ile71_Val75del)
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.5(BBS2):c.255del (p.Glu86fs) rs2144193104
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013
NM_031885.5(BBS2):c.263del (p.Gly88fs) rs869025206
NM_031885.5(BBS2):c.307del (p.Tyr103fs)
NM_031885.5(BBS2):c.326C>A (p.Ser109Ter) rs181736797
NM_031885.5(BBS2):c.362del (p.Asn121fs)
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.416G>T (p.Gly139Val) rs121908181
NM_031885.5(BBS2):c.437del (p.Gly146fs) rs1170844318
NM_031885.5(BBS2):c.440del (p.Phe147fs) rs1433422530
NM_031885.5(BBS2):c.466del (p.Trp156fs)
NM_031885.5(BBS2):c.468del (p.Phe155_Trp156insTer)
NM_031885.5(BBS2):c.471+1G>A rs1555523584
NM_031885.5(BBS2):c.471+1G>C rs1555523584
NM_031885.5(BBS2):c.472-2A>G rs137854887
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) rs1964558577
NM_031885.5(BBS2):c.528del (p.Glu178fs)
NM_031885.5(BBS2):c.590_591del (p.Val197fs)
NM_031885.5(BBS2):c.613-1G>C rs2144163316
NM_031885.5(BBS2):c.613-1G>T
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031885.5(BBS2):c.685dup (p.Tyr229fs)
NM_031885.5(BBS2):c.717+1G>T
NM_031885.5(BBS2):c.717+2T>G rs1555522893
NM_031885.5(BBS2):c.718-2A>C rs1964413705
NM_031885.5(BBS2):c.718-2A>G rs1964413705
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.775G>T (p.Glu259Ter)
NM_031885.5(BBS2):c.812del (p.Ala271fs)
NM_031885.5(BBS2):c.892del (p.Arg298fs) rs2144150359
NM_031885.5(BBS2):c.89_90dup (p.Leu31fs)
NM_031885.5(BBS2):c.916_919del (p.Ile306fs)
NM_031885.5(BBS2):c.940del (p.Ile314fs) rs587777824
NM_031885.5(BBS2):c.941-1G>C rs777234811
NM_031885.5(BBS2):c.941-1G>T rs777234811
NM_031885.5(BBS2):c.941-2A>C rs878962682
NM_031885.5(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.973del (p.Arg325fs)
NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys) rs879253738
NM_031942.5(CDCA7):c.1058G>A (p.Arg353His) rs370384522
NM_031942.5(CDCA7):c.1118del (p.Gly373fs) rs876657409
NM_032040.5(CCDC8):c.612dup (p.Lys205fs) rs752254407
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748
NM_032040.5(CCDC8):c.84dup (p.Lys29Ter) rs1568590155
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter) rs1580905929
NM_032119.4(ADGRV1):c.10570C>T (p.Gln3524Ter)
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.11772del (p.Ile3925fs) rs1755899012
NM_032119.4(ADGRV1):c.11938C>T (p.Gln3980Ter)
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs) rs1581041519
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.14329C>T (p.Gln4777Ter)
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) rs1581135405
NM_032119.4(ADGRV1):c.14639_14640del (p.Val4879_Ser4880insTer) rs780664266
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs) rs1581196586
NM_032119.4(ADGRV1):c.16041dup (p.Thr5348fs) rs2150231769
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) rs1561416879
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) rs377650415
NM_032119.4(ADGRV1):c.1626A>T (p.Thr542=) rs1765197280
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) rs1561843914
NM_032119.4(ADGRV1):c.17974-1G>C rs1581711527
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) rs121909763
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) rs796051865
NM_032119.4(ADGRV1):c.2241-2A>G rs929034631
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) rs796051866
NM_032119.4(ADGRV1):c.227del (p.Gly76fs)
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) rs1561441451
NM_032119.4(ADGRV1):c.2812C>T (p.Gln938Ter)
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) rs1439933768
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs) rs1767988429
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs)
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) rs1580609185
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) rs796051867
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) rs1276890742
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln) rs369341309
NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter) rs886039893
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) rs1561543496
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) rs796051863
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) rs796051864
NM_032119.4(ADGRV1):c.9439C>T (p.Arg3147Ter)
NM_032119.4(ADGRV1):c.955_958dup (p.Leu320fs) rs1764920338
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_032119.4(ADGRV1):c.9748+2T>C rs1580864592
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_032237.5(POMK):c.152del (p.Asp51fs) rs2130601407
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
NM_032237.5(POMK):c.282+1G>C rs1206884841
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.43dup (p.Arg15fs) rs749980792
NM_032237.5(POMK):c.452_455dup (p.His152fs) rs2130626601
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
NM_032237.5(POMK):c.724dup (p.Val242fs)
NM_032237.5(POMK):c.754dup (p.Asp252fs)
NM_032237.5(POMK):c.803del (p.Phe268fs)
NM_032237.5(POMK):c.847del (p.Trp283fs)
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
NM_032490.5(GON7):c.19dup (p.Tyr7fs) rs2140095097
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter) rs1218573239
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg) rs587777353
NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del) rs2141132961
NM_032575.3(GLIS2):c.775+1G>T rs878855335
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_032793.5(MFSD2A):c.1386_1435del (p.Gln462fs) rs2124782476
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) rs1057517688
NM_032793.5(MFSD2A):c.556+1G>A rs758953000
NM_032793.5(MFSD2A):c.750_753del (p.Cys251fs) rs1278119822
NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)
NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) rs1553794304
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)
NM_032982.4(CASP2):c.876+1G>T
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1016_1017del (p.Glu339fs)
NM_033028.5(BBS4):c.1064_1106+97del
NM_033028.5(BBS4):c.1083C>A (p.Tyr361Ter)
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs) rs2065911287
NM_033028.5(BBS4):c.1126dup (p.Leu376fs) rs2065911518
NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
NM_033028.5(BBS4):c.1203dup (p.Val402fs)
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1248+1G>A
NM_033028.5(BBS4):c.1248+1G>T rs1419924139
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter) rs2065331681
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
NM_033028.5(BBS4):c.157-1G>T
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.186_187del (p.Gln63fs)
NM_033028.5(BBS4):c.217del (p.Gln73fs)
NM_033028.5(BBS4):c.220+1G>A
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
NM_033028.5(BBS4):c.281del (p.Ala94fs) rs2151023363
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
NM_033028.5(BBS4):c.332+2_332+3insTT rs753360929
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.346A>T (p.Lys116Ter)
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
NM_033028.5(BBS4):c.435C>A (p.Tyr145Ter)
NM_033028.5(BBS4):c.453_454insGAAC (p.Asn152fs)
NM_033028.5(BBS4):c.458del (p.Lys153fs)
NM_033028.5(BBS4):c.459+1G>A
NM_033028.5(BBS4):c.469del (p.Gln157fs)
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.623T>A (p.Leu208Ter) rs1358520224
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.640C>T (p.Gln214Ter)
NM_033028.5(BBS4):c.642+2T>G
NM_033028.5(BBS4):c.656dup (p.Lys220fs)
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_033028.5(BBS4):c.76+2T>C
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.780_781del (p.Arg260fs)
NM_033028.5(BBS4):c.836_842del (p.Cys279fs) rs2151047525
NM_033028.5(BBS4):c.87del (p.Pro30fs)
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.929del (p.Leu310fs) rs889012564
NM_033028.5(BBS4):c.952C>T (p.Gln318Ter) rs1567430070
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5861C>G (p.Ser1954Ter)
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs) rs2145248615
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
NM_033109.5(PNPT1):c.1424A>G (p.Glu475Gly) rs397514599
NM_033109.5(PNPT1):c.1748dup (p.Glu584fs) rs35239216
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr) rs1425696642
NM_033109.5(PNPT1):c.298-2A>T rs1478363532
NM_033109.5(PNPT1):c.574C>T (p.Arg192Ter)
NM_033109.5(PNPT1):c.918del (p.Val307fs) rs1696930196
NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp) rs773814837
NM_033550.4(TP53RK):c.179del (p.Lys60fs) rs1431526147
NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg) rs1432218739
NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu) rs776588426
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.137dup (p.Ser46fs) rs2107255865
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.243_246del (p.Ser82fs) rs2040335386
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) rs768724007
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.581del (p.Ser194fs) rs1575293518
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
NM_052989.3(IFT122):c.1432dup (p.Val478fs) rs2108311256
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
NM_052989.3(IFT122):c.273-257C>A
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.273-341dup
NM_052989.3(IFT122):c.273-374_273-369dup
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) rs2083230922
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp) rs2108740086
NM_052989.3(IFT122):c.384del (p.Lys128fs)
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
NM_079420.3(MYL1):c.479-2A>G rs1559659233
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu) rs121912948
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr) rs864309523
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130384.3(ATRIP):c.829+2T>G rs2107215447
NM_130837.3(OPA1):c.1369G>A (p.Val457Met) rs879255594
NM_130837.3(OPA1):c.1870+1G>T rs879255595
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter) rs879255593
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) rs387907002
NM_133261.3(GIPC3):c.685dup (p.Ala229fs) rs748150647
NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter) rs1568278651
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp) rs387907001
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg) rs387906999
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter) rs387907000
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter) rs118203970
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
NM_138387.4(G6PC3):c.199_218+1del rs1597905369
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
NM_138387.4(G6PC3):c.218+2T>C
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
NM_138387.4(G6PC3):c.346A>G (p.Met116Val) rs267606834
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
NM_138387.4(G6PC3):c.464del (p.Leu155fs) rs1295168770
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro) rs118203969
NM_138387.4(G6PC3):c.575dup (p.Met192fs)
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.635del (p.Leu212fs) rs769634275
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.677+1G>A rs778208850
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del) rs777475388
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg) rs118203971
NM_138387.4(G6PC3):c.911dup (p.Gln305fs) rs34019455
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) rs797044567
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)
NM_138395.4(MARS2):c.682_949del (p.Gly228fs) rs1553608221
NM_138425.3(C12orf57):c.-256C>T rs139594532
NM_138425.3(C12orf57):c.-266T>G rs782444004
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT rs1255543147
NM_138425.3(C12orf57):c.-272G>A rs1055698058
NM_138501.6(TECR):c.545C>T (p.Pro182Leu) rs199469705
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1184del (p.Gln395fs) rs2118181420
NM_138691.3(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_138691.3(TMC1):c.1250G>A (p.Gly417Glu)
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.3(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.16+1G>T rs1169090943
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_138691.3(TMC1):c.229del (p.Arg77fs) rs878853230
NM_138691.3(TMC1):c.871del (p.Val291fs)
NM_138691.3(TMC1):c.885-2A>C rs1564554148
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.3:c.(?_5909)_(12225_?)del
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.10134G>A (p.Trp3378Ter) rs2150962096
NM_138694.4(PKHD1):c.10228C>T (p.Gln3410Ter)
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.10334del (p.Asn3445fs) rs2150417202
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10392del (p.Ile3465fs) rs2150416702
NM_138694.4(PKHD1):c.10393_10394insG (p.Ile3465fs)
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) rs1554183559
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10529T>G (p.Leu3510Ter)
NM_138694.4(PKHD1):c.10561C>T (p.Gln3521Ter) rs2150415240
NM_138694.4(PKHD1):c.1057C>T (p.Gln353Ter)
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
NM_138694.4(PKHD1):c.10673del (p.Gly3558fs) rs2150414452
NM_138694.4(PKHD1):c.1068dup (p.Asn357Ter) rs1554219449
NM_138694.4(PKHD1):c.10708del (p.Ser3570fs)
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10722del (p.Gly3575fs)
NM_138694.4(PKHD1):c.10756_10759del (p.Asn3586fs) rs1195276132
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) rs780182068
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)
NM_138694.4(PKHD1):c.10850_10862dup (p.Asn3621fs)
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) rs1554183235
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10894A>T (p.Arg3632Ter)
NM_138694.4(PKHD1):c.10937C>G (p.Ser3646Ter)
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.10976C>G (p.Ser3659Ter) rs1562040106
NM_138694.4(PKHD1):c.10984_10987del (p.Ile3662fs) rs1772384576
NM_138694.4(PKHD1):c.11026G>T (p.Gly3676Ter)
NM_138694.4(PKHD1):c.11060delinsTT (p.Gln3687fs)
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11223T>G (p.Tyr3741Ter) rs778676351
NM_138694.4(PKHD1):c.1131_1132insA (p.Gly378fs) rs2128215670
NM_138694.4(PKHD1):c.1136dup (p.Phe380fs)
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11408dup (p.Ala3804fs) rs2150329535
NM_138694.4(PKHD1):c.11416del (p.Thr3806fs)
NM_138694.4(PKHD1):c.11435_11441del (p.Ser3812fs)
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) rs2150329160
NM_138694.4(PKHD1):c.11475G>A (p.Trp3825Ter) rs1768958447
NM_138694.4(PKHD1):c.11566A>T (p.Lys3856Ter) rs1409782065
NM_138694.4(PKHD1):c.1157del (p.Asn386fs) rs2128215604
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11613G>A (p.Trp3871Ter)
NM_138694.4(PKHD1):c.11685del (p.Pro3896fs)
NM_138694.4(PKHD1):c.11697_11785+527delinsTTAGG
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11766del (p.Asp3923fs)
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) rs1582024305
NM_138694.4(PKHD1):c.11821C>T (p.Gln3941Ter)
NM_138694.4(PKHD1):c.11830del (p.His3944fs) rs774086520
NM_138694.4(PKHD1):c.1197del (p.Leu400fs) rs766857175
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1233+99_1694-441del
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
NM_138694.4(PKHD1):c.126del (p.Phe42fs) rs760586271
NM_138694.4(PKHD1):c.1272G>A (p.Trp424Ter)
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)
NM_138694.4(PKHD1):c.1293dup (p.Arg432Ter) rs2128212671
NM_138694.4(PKHD1):c.1305del (p.Thr436fs) rs1808150555
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.134_154delinsAG (p.Leu45_Pro52delinsTer) rs1812193678
NM_138694.4(PKHD1):c.1350del (p.Met451fs)
NM_138694.4(PKHD1):c.1356C>G (p.Tyr452Ter)
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1414C>T (p.Gln472Ter)
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1529del (p.Gly510fs) rs1807855713
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1621G>T (p.Glu541Ter)
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs) rs777295562
NM_138694.4(PKHD1):c.1644del (p.Lys548fs)
NM_138694.4(PKHD1):c.1693+1G>T rs2128209217
NM_138694.4(PKHD1):c.1693+2T>G rs1581999471
NM_138694.4(PKHD1):c.1728del (p.Ser577fs)
NM_138694.4(PKHD1):c.1820dup (p.Asp608fs)
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1849_1850dup (p.Lys618fs)
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.1967G>A (p.Trp656Ter) rs2128203970
NM_138694.4(PKHD1):c.1968G>T (p.Trp656Cys) rs1209068432
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2059C>T (p.Gln687Ter) rs2128203606
NM_138694.4(PKHD1):c.2085_2086insA (p.Glu696fs) rs2128203474
NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn) rs2128203385
NM_138694.4(PKHD1):c.210dup (p.Ala71fs)
NM_138694.4(PKHD1):c.2120T>C (p.Ile707Thr)
NM_138694.4(PKHD1):c.2135dup (p.Thr713fs)
NM_138694.4(PKHD1):c.2140+1G>A rs1554213853
NM_138694.4(PKHD1):c.2146C>T (p.Gln716Ter)
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs) rs1581956689
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2201_2202del (p.Val734fs) rs1806590811
NM_138694.4(PKHD1):c.2257G>T (p.Glu753Ter) rs1806573538
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2280-1G>A
NM_138694.4(PKHD1):c.2339_2340del (p.Arg780fs) rs2128192920
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2555G>A (p.Trp852Ter)
NM_138694.4(PKHD1):c.2563C>T (p.Gln855Ter) rs1805754682
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2601del (p.Asp867fs)
NM_138694.4(PKHD1):c.2606del (p.Asn869fs)
NM_138694.4(PKHD1):c.2664_2665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGGGAGAGGGAGAGGGAGCATGATGGTGGAGTTTTT (p.Leu889fs)
NM_138694.4(PKHD1):c.2688_2696delinsA (p.Met896fs) rs1805550477
NM_138694.4(PKHD1):c.2713C>T (p.Gln905Ter) rs1805547113
NM_138694.4(PKHD1):c.2733del (p.Asn911fs) rs2128184202
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
NM_138694.4(PKHD1):c.2796T>A (p.Cys932Ter)
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.2846del (p.Tyr949fs) rs2128182991
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2854G>T (p.Gly952Ter) rs773136605
NM_138694.4(PKHD1):c.2932del (p.Gln978fs) rs2128182780
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter) rs1581910796
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.2T>C (p.Met1Thr) rs2128246846
NM_138694.4(PKHD1):c.3089C>A (p.Ala1030Glu)
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.312_313del (p.Tyr105fs)
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
NM_138694.4(PKHD1):c.3225del (p.Arg1076fs)
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3271dup (p.Asp1091fs) rs1803325484
NM_138694.4(PKHD1):c.3300del (p.Phe1100fs)
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.330C>G (p.Tyr110Ter)
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3350_3351del (p.Ile1117fs)
NM_138694.4(PKHD1):c.3364G>A (p.Gly1122Ser) rs1803308145
NM_138694.4(PKHD1):c.337G>T (p.Gly113Ter) rs2128240429
NM_138694.4(PKHD1):c.338del (p.Gly113fs)
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3473G>A (p.Trp1158Ter) rs1802523270
NM_138694.4(PKHD1):c.3479dup (p.Glu1161fs)
NM_138694.4(PKHD1):c.3549del (p.His1184fs) rs1802504786
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3589dup (p.Glu1197fs) rs2128151635
NM_138694.4(PKHD1):c.3628G>T (p.Gly1210Ter)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3744G>A (p.Trp1248Ter)
NM_138694.4(PKHD1):c.3754del (p.Leu1252fs) rs2128146668
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3771dup (p.Pro1258fs)
NM_138694.4(PKHD1):c.3815G>A (p.Trp1272Ter)
NM_138694.4(PKHD1):c.3837_3838del (p.Arg1280fs)
NM_138694.4(PKHD1):c.3848C>A (p.Ser1283Ter)
NM_138694.4(PKHD1):c.390+1G>A rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3907del (p.Val1303fs) rs1581812192
NM_138694.4(PKHD1):c.3921del (p.Gly1308fs)
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3958G>T (p.Gly1320Ter)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4026del (p.Phe1343fs) rs2128145291
NM_138694.4(PKHD1):c.4034del (p.Gly1345fs) rs2128145261
NM_138694.4(PKHD1):c.4105dup (p.Arg1369fs) rs1581810497
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.411_414dup (p.Val139fs) rs2128236822
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4183_4184dup (p.Pro1396fs)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4224del (p.Thr1408_Val1409insTer) rs2128144542
NM_138694.4(PKHD1):c.4235del (p.Leu1412fs) rs2128144488
NM_138694.4(PKHD1):c.424del (p.Val142fs) rs2128236801
NM_138694.4(PKHD1):c.4277C>A (p.Ser1426Ter)
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4328del (p.Cys1443fs)
NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) rs1581808463
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4375_4390del (p.Leu1459fs)
NM_138694.4(PKHD1):c.4415G>A (p.Cys1472Tyr)
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) rs1554198717
NM_138694.4(PKHD1):c.4436dup (p.Ile1480fs) rs1801998818
NM_138694.4(PKHD1):c.4444_4450del (p.Glu1482fs)
NM_138694.4(PKHD1):c.4481del (p.Asn1494fs) rs1801988386
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) rs1325403863
NM_138694.4(PKHD1):c.448G>T (p.Gly150Ter)
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.4496del (p.Leu1499fs)
NM_138694.4(PKHD1):c.4519C>T (p.Gln1507Ter)
NM_138694.4(PKHD1):c.4543G>T (p.Glu1515Ter) rs1433540169
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs) rs2128143028
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs) rs1801949246
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
NM_138694.4(PKHD1):c.470dup (p.Trp158fs) rs2128233941
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs) rs2128142610
NM_138694.4(PKHD1):c.47T>A (p.Leu16Ter)
NM_138694.4(PKHD1):c.4816del (p.Val1606fs) rs2128142490
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs) rs2128142414
NM_138694.4(PKHD1):c.484G>T (p.Gly162Ter) rs1210505160
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs) rs2128142132
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter) rs779028446
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) rs28937907
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter) rs2128141956
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
NM_138694.4(PKHD1):c.507del (p.Phe169fs) rs2128233864
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
NM_138694.4(PKHD1):c.525del (p.Asp175fs) rs1810924520
NM_138694.4(PKHD1):c.5261_5262del (p.His1754fs)
NM_138694.4(PKHD1):c.528-2A>G
NM_138694.4(PKHD1):c.5310_5311del (p.Cys1770fs)
NM_138694.4(PKHD1):c.5322C>A (p.Cys1774Ter) rs2128138552
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) rs794727572
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter) rs1801600694
NM_138694.4(PKHD1):c.5374del (p.Leu1792fs) rs2128138378
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5420del (p.Asp1807fs)
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5462del (p.Asp1820_Leu1821insTer) rs2128130342
NM_138694.4(PKHD1):c.5476del (p.Ala1826fs)
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5502G>A (p.Trp1834Ter) rs1800728912
NM_138694.4(PKHD1):c.5521G>T (p.Glu1841Ter)
NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)
NM_138694.4(PKHD1):c.5585C>A (p.Ser1862Ter)
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
NM_138694.4(PKHD1):c.5656del (p.Met1886fs)
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs) rs1581727260
NM_138694.4(PKHD1):c.5695C>T (p.Gln1899Ter) rs2128117147
NM_138694.4(PKHD1):c.5742del (p.Asn1915fs)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.575_578del (p.Ser192fs)
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs) rs1791765505
NM_138694.4(PKHD1):c.5767_5768del (p.Gln1923fs) rs2127947553
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5784G>A (p.Trp1928Ter) rs1791760028
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5858del (p.Leu1953fs) rs2127946739
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5909-46_5943del rs2127769312
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) rs1561921358
NM_138694.4(PKHD1):c.5994_5998del (p.Gly1999fs)
NM_138694.4(PKHD1):c.5995G>T (p.Gly1999Ter) rs2127768828
NM_138694.4(PKHD1):c.6001G>T (p.Glu2001Ter)
NM_138694.4(PKHD1):c.6008del (p.Lys2003fs) rs2127768716
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) rs1561920869
NM_138694.4(PKHD1):c.6077del (p.Gly2026fs)
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6111_6112insG (p.Ser2038fs)
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6209G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)
NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6333-2A>G
NM_138694.4(PKHD1):c.6336T>G (p.Tyr2112Ter) rs2127664665
NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer) rs1405067373
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.6392dup (p.Val2132fs) rs2127664245
NM_138694.4(PKHD1):c.6437_6440del (p.Thr2146fs)
NM_138694.4(PKHD1):c.6469C>T (p.Gln2157Ter)
NM_138694.4(PKHD1):c.6472G>T (p.Glu2158Ter)
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter) rs368263958
NM_138694.4(PKHD1):c.6506_6511delinsC (p.Cys2169fs)
NM_138694.4(PKHD1):c.6508_6511del (p.Leu2170fs)
NM_138694.4(PKHD1):c.6568C>T (p.Gln2190Ter) rs1782629977
NM_138694.4(PKHD1):c.6592C>T (p.Gln2198Ter)
NM_138694.4(PKHD1):c.6629G>A (p.Gly2210Glu)
NM_138694.4(PKHD1):c.6658del (p.Leu2220fs) rs2127651823
NM_138694.4(PKHD1):c.6765del (p.Asp2255fs)
NM_138694.4(PKHD1):c.6778del (p.Tyr2260fs) rs1782064827
NM_138694.4(PKHD1):c.6794A>T (p.His2265Leu)
NM_138694.4(PKHD1):c.6805_6806insCTAT (p.Val2269fs)
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6835del (p.Ser2279fs)
NM_138694.4(PKHD1):c.6839G>A (p.Trp2280Ter) rs758404336
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter) rs1583295819
NM_138694.4(PKHD1):c.6865+1G>A
NM_138694.4(PKHD1):c.690dup (p.Val231fs) rs2128229183
NM_138694.4(PKHD1):c.6929del (p.Gly2310fs)
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.7011_7012del (p.Cys2337fs)
NM_138694.4(PKHD1):c.7023T>A (p.Tyr2341Ter)
NM_138694.4(PKHD1):c.7060C>T (p.Gln2354Ter)
NM_138694.4(PKHD1):c.7062del (p.Ala2355fs) rs1583203255
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs) rs1554289495
NM_138694.4(PKHD1):c.7138C>T (p.Gln2380Ter)
NM_138694.4(PKHD1):c.7149G>A (p.Trp2383Ter) rs757590581
NM_138694.4(PKHD1):c.7171_7172del (p.Leu2391fs)
NM_138694.4(PKHD1):c.7195del (p.Glu2399fs)
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
NM_138694.4(PKHD1):c.7253_7254del (p.Lys2418fs)
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.731G>A (p.Trp244Ter) rs1582085757
NM_138694.4(PKHD1):c.7351-1G>C rs1554282540
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7395G>A (p.Trp2465Ter) rs1231660958
NM_138694.4(PKHD1):c.7396G>T (p.Glu2466Ter)
NM_138694.4(PKHD1):c.7417del (p.Thr2473fs)
NM_138694.4(PKHD1):c.7465del (p.Ser2489fs) rs2151777326
NM_138694.4(PKHD1):c.7473T>A (p.Cys2491Ter) rs2151777194
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7529_7530del (p.Ser2510fs) rs2151761823
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7594_7597del (p.Ser2532fs)
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.7651_7652dup (p.Leu2551fs)
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.7765_7766delinsT (p.Thr2589fs) rs1773247172
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs) rs1583054534
NM_138694.4(PKHD1):c.7867del (p.Tyr2623fs)
NM_138694.4(PKHD1):c.7880_7881del (p.Gln2626_Ser2627insTer)
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs) rs1583053996
NM_138694.4(PKHD1):c.788_789del (p.Ser263fs) rs1045491786
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-1G>C rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7944del (p.Asn2649fs)
NM_138694.4(PKHD1):c.7950C>G (p.Tyr2650Ter)
NM_138694.4(PKHD1):c.7964A>G (p.His2655Arg)
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter) rs1482563973
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.7985_7986del (p.Pro2662fs)
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
NM_138694.4(PKHD1):c.7_19del (p.Ala3fs)
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter) rs768660365
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) rs1473182306
NM_138694.4(PKHD1):c.8128C>T (p.Gln2710Ter) rs2151549840
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) rs2151512212
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_138694.4(PKHD1):c.820dup (p.Arg274fs) rs1582064844
NM_138694.4(PKHD1):c.821_822del (p.Arg274fs)
NM_138694.4(PKHD1):c.8289del (p.Leu2764fs) rs1768123584
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.831_836del (p.277IT[1])
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.8409C>A (p.Cys2803Ter)
NM_138694.4(PKHD1):c.840del (p.Gly281fs)
NM_138694.4(PKHD1):c.8453del (p.Asn2818fs) rs1790945437
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8553del (p.Ile2851fs)
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8562T>G (p.Tyr2854Ter)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.8604_8605del (p.Trp2868fs)
NM_138694.4(PKHD1):c.865C>T (p.Gln289Ter) rs2128223979
NM_138694.4(PKHD1):c.8668del (p.Trp2890fs) rs2151021274
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8731del (p.Leu2911fs) rs2151020773
NM_138694.4(PKHD1):c.8782A>T (p.Lys2928Ter) rs2151020303
NM_138694.4(PKHD1):c.8798-2A>T rs1582470309
NM_138694.4(PKHD1):c.880+1G>A rs1582064292
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs) rs2151011995
NM_138694.4(PKHD1):c.8837del (p.Leu2946fs)
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.8870_8874del (p.Ile2957fs)
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.8909_8912del (p.Phe2970fs) rs1473686155
NM_138694.4(PKHD1):c.8912del (p.Val2971fs) rs2151011017
NM_138694.4(PKHD1):c.8916dup (p.Ser2973fs)
NM_138694.4(PKHD1):c.8980C>T (p.Gln2994Ter) rs2150987482
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9038_9039delinsAA (p.Ser3013Ter)
NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe) rs137852945
NM_138694.4(PKHD1):c.9070dup (p.Cys3024fs) rs2150986957
NM_138694.4(PKHD1):c.9081_9082dup (p.Ile3028fs)
NM_138694.4(PKHD1):c.9149del (p.Gly3050fs) rs2150986366
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs) rs1582441668
NM_138694.4(PKHD1):c.9183_9186delinsATTAGTGACATCAG (p.Asn3062fs) rs2150986043
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9210_9223del (p.Gln3070fs) rs2150985744
NM_138694.4(PKHD1):c.9219G>A (p.Trp3073Ter) rs761075492
NM_138694.4(PKHD1):c.9302_9303del (p.Arg3101fs)
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9329dup (p.Cys3111fs)
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs) rs1785501068
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs) rs1785493309
NM_138694.4(PKHD1):c.9455del (p.Asn3152fs)
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9552T>G (p.Tyr3184Ter)
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9568C>T (p.Gln3190Ter)
NM_138694.4(PKHD1):c.9589C>T (p.Gln3197Ter) rs2150982651
NM_138694.4(PKHD1):c.9615del (p.Ile3205fs)
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9699del (p.Ser3234fs) rs1785437689
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs) rs1582436832
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138694.4(PKHD1):c.9735G>A (p.Trp3245Ter)
NM_138694.4(PKHD1):c.9779G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9845del (p.Ser3282fs)
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.9945del (p.Met3316fs)
NM_138694.4(PKHD1):c.9956_9957del (p.Ile3319fs)
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) rs375189195
NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)
NM_138775.3(ALKBH8):c.1785del (p.Trp596fs) rs1591234203
NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)
NM_139319.3(SLC17A8):c.616dup (p.Met206fs) rs2135999616
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) rs121918339
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) rs121909273
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) rs121909274
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs) rs786205881
NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs) rs786205880
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs) rs1981200603
NM_144498.4(OSBPL2):c.180_181del (p.His60fs) rs1981202197
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) rs786205854
NM_144508.5(KNL1):c.1076del (p.Gly359fs) rs2141719739
NM_144508.5(KNL1):c.5184dup (p.Ile1729fs) rs863225127
NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) rs763915472
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter) rs2141033426
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
NM_144596.4(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.106dup (p.Tyr36fs) rs2094691095
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
NM_144596.4(TTC8):c.114+1G>T
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
NM_144596.4(TTC8):c.266-2A>G rs2140976096
NM_144596.4(TTC8):c.293del (p.Gly98fs) rs1271312946
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.572del (p.Leu191fs)
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) rs587777806
NM_144596.4(TTC8):c.600dup (p.His201fs)
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter) rs2140999501
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
NM_144596.4(TTC8):c.699del (p.Lys233fs)
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
NM_144596.4(TTC8):c.936del (p.Glu313fs)
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]
NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter) rs587777157
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter) rs587777158
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs) rs587777159
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter) rs587777160
NM_144672.4(OTOA):c.1025A>T (p.Asp342Val) rs1060499804
NM_144672.4(OTOA):c.1320+2T>C rs1567381218
NM_144672.4(OTOA):c.1537del (p.Ala513fs)
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) rs2141700836
NM_144672.4(OTOA):c.1765del (p.Gln589fs) rs775776282
NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)
NM_144672.4(OTOA):c.346C>T (p.Gln116Ter) rs2141658932
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144772.3(NAXE):c.128C>A (p.Ser43Ter) rs765587923
NM_144772.3(NAXE):c.177C>A (p.Tyr59Ter) rs371872027
NM_144772.3(NAXE):c.229del (p.Gln77fs) rs2102489197
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp) rs2102489248
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144772.3(NAXE):c.536dup (p.Tyr180fs) rs1677397982
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser) rs1677398842
NM_144772.3(NAXE):c.653A>T (p.Asp218Val) rs886041064
NM_144772.3(NAXE):c.743del (p.Ala248fs) rs886041063
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del) rs886041062
NM_145178.4(ATOH7):c.136A>C (p.Asn46His) rs587777666
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val) rs587777664
NM_145178.4(ATOH7):c.53del (p.Pro18fs) rs587777665
NM_145309.6(LRRC51):c.340_346del (p.Ile114fs) rs759544282
NM_145861.4(EDARADD):c.120+1G>A rs879255553
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) rs766500689
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) rs1657345576
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs) rs2133768184
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs) rs2133759109
NM_145886.4(PIDD1):c.2275-1G>A rs2133753509
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter) rs1224174574
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1639del (p.Ser547fs) rs2108851441
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)
NM_147127.5(EVC2):c.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs) rs2108843144
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.24del (p.Arg9fs) rs2151750195
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.86del (p.Gly29fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147196.3(TMIE):c.122_125del (p.Pro41fs) rs876661301
NM_147196.3(TMIE):c.144_145del (p.Val49fs) rs1700545926
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) rs267607120
NM_147196.3(TMIE):c.94-2_98delinsC rs876657371
NM_148919.4(PSMB8):c.108_118del (p.Met37fs)
NM_148919.4(PSMB8):c.227_230dup (p.Phe78fs)
NM_148919.4(PSMB8):c.313A>C (p.Lys105Gln) rs1554239543
NM_148919.4(PSMB8):c.31dup (p.Arg11fs) rs775701157
NM_148919.4(PSMB8):c.383del (p.Glu128fs)
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter) rs146254972
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter) rs2127377117
NM_148919.4(PSMB8):c.50C>A (p.Ser17Ter)
NM_148919.4(PSMB8):c.602G>T (p.Gly201Val) rs387906680
NM_148919.4(PSMB8):c.608_611dup (p.Asn204fs) rs1769913209
NM_152305.3(POGLUT1):c.170A>G (p.Tyr57Cys)
NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)
NM_152305.3(POGLUT1):c.356T>C (p.Ile119Thr)
NM_152305.3(POGLUT1):c.547C>T (p.Arg183Trp)
NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter) rs1560034617
NM_152305.3(POGLUT1):c.699T>G (p.Asp233Glu) rs550944082
NM_152305.3(POGLUT1):c.836G>A (p.Arg279Gln)
NM_152384.2(BBS5):c.925_931del
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.143-1G>A rs1054138918
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.198del (p.Val67fs)
NM_152384.3(BBS5):c.1A>G (p.Met1Val) rs536117380
NM_152384.3(BBS5):c.1A>T (p.Met1Leu)
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.406del (p.Met136fs) rs2105297751
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.444del (p.Asn149fs)
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter) rs2105297825
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152384.3(BBS5):c.54dup (p.Ala19fs)
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) rs1683644409
NM_152384.3(BBS5):c.562dup (p.Val188fs)
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter) rs1683644662
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter)
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs)
NM_152384.3(BBS5):c.655del (p.Ala219fs) rs2105300418
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) rs1471916487
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter) rs2105304338
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
NM_152384.3:c.(?_-60)_(386+1_387-1)del
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152443.3(RDH12):c.68+1G>A rs2140138146
NM_152443.3(RDH12):c.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs) rs1047608955
NM_152617.4(RNF168):c.397dup (p.Ala133fs) rs1577516447
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter) rs1375925950
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs) rs2150736842
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs) rs1800908907
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs) rs2150736854
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
NM_152618.3(BBS12):c.1193dup (p.Asn398fs) rs2150736986
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs) rs2150737232
NM_152618.3(BBS12):c.1455del (p.Asn485fs) rs2150737331
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs) rs2150737344
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
NM_152618.3(BBS12):c.1483_1484del (p.Glu495fs) rs587777802
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
NM_152618.3(BBS12):c.1577dup (p.Leu526fs) rs1800926856
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys) rs1800928868
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
NM_152618.3(BBS12):c.168del (p.Glu58fs)
NM_152618.3(BBS12):c.1705del (p.Leu569fs) rs2150737655
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter) rs2150737680
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter) rs1800931751
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs) rs764074545
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter) rs1800933874
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.189del (p.Ser64fs) rs2150735961
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.2019del (p.Trp673fs) rs2150738027
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter) rs746020725
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
NM_152618.3(BBS12):c.223del (p.Gln75fs)
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.27_30del (p.Asn9fs) rs2150735761
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.337_339del (p.Val113del) rs587777801
NM_152618.3(BBS12):c.398del (p.Pro133fs) rs750185673
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
NM_152618.3(BBS12):c.422dup (p.Met141fs) rs1800890010
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.427del (p.Ser143fs)
NM_152618.3(BBS12):c.469_470del (p.Leu157fs) rs2150736228
NM_152618.3(BBS12):c.476del (p.Pro159fs)
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.572_576del (p.Gly191fs)
NM_152618.3(BBS12):c.58del (p.Ser20fs) rs2150735809
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer) rs1560706958
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.683del (p.Gln228fs) rs2150736424
NM_152618.3(BBS12):c.694dup (p.Ile232fs) rs2150736431
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.780_781del (p.His260fs) rs865920726
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_152618.3(BBS12):c.80del (p.Arg27fs)
NM_152618.3(BBS12):c.867_874del (p.Val290fs) rs2150736605
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.890_893del (p.Ala297fs) rs2150736616
NM_152618.3(BBS12):c.911_912del (p.Cys304fs) rs2150736648
NM_152618.3(BBS12):c.925_926del (p.Met309fs) rs1800904262
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly) rs749107412
NM_152618.3(BBS12):c.95del (p.Pro32fs)
NM_153002.3(GPR156):c.1863dup (p.His622fs)
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
NM_153240.5(NPHP3):c.1040dup (p.Asn347fs) rs2107996325
NM_153240.5(NPHP3):c.1079G>C (p.Ser360Thr) rs119456960
NM_153240.5(NPHP3):c.1087_1090del (p.Val363fs) rs1576682880
NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs)
NM_153240.5(NPHP3):c.1124T>A (p.Leu375Ter)
NM_153240.5(NPHP3):c.1164del (p.Gly389fs) rs2107990671
NM_153240.5(NPHP3):c.1289C>G (p.Ser430Ter)
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)
NM_153240.5(NPHP3):c.1675del (p.His559fs)
NM_153240.5(NPHP3):c.1706C>G (p.Ser569Ter)
NM_153240.5(NPHP3):c.1832_1833del (p.Ser611fs) rs780165789
NM_153240.5(NPHP3):c.1976del (p.Pro659fs) rs1939543636
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.2040del (p.Ile680_Ile681insTer) rs757578685
NM_153240.5(NPHP3):c.2111_2112del (p.Cys704fs) rs2107976854
NM_153240.5(NPHP3):c.2218C>T (p.Gln740Ter)
NM_153240.5(NPHP3):c.2387G>A (p.Trp796Ter) rs2107971687
NM_153240.5(NPHP3):c.2702_2703del (p.Phe901fs)
NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.2880_2883del (p.Ser960fs) rs1939234862
NM_153240.5(NPHP3):c.2956dup (p.Gln986fs) rs1560002147
NM_153240.5(NPHP3):c.2985C>G (p.Tyr995Ter) rs777768843
NM_153240.5(NPHP3):c.3003del (p.Phe1001fs) rs1560002113
NM_153240.5(NPHP3):c.30del (p.Ala11fs) rs1311592052
NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)
NM_153240.5(NPHP3):c.3129T>A (p.Tyr1043Ter) rs758238787
NM_153240.5(NPHP3):c.3156dup (p.Ser1053fs) rs771215577
NM_153240.5(NPHP3):c.3255_3256dup (p.Gly1086fs)
NM_153240.5(NPHP3):c.3309C>G (p.Tyr1103Ter) rs1560000875
NM_153240.5(NPHP3):c.3402_3403del (p.Ala1135fs) rs746849675
NM_153240.5(NPHP3):c.3439G>T (p.Glu1147Ter) rs2107963367
NM_153240.5(NPHP3):c.3576del (p.Lys1192fs)
NM_153240.5(NPHP3):c.3608del (p.Ala1203fs) rs1060499938
NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)
NM_153240.5(NPHP3):c.372_376del (p.Lys124fs) rs1940240492
NM_153240.5(NPHP3):c.3787del (p.Thr1263fs) rs2107961294
NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)
NM_153240.5(NPHP3):c.3812+1G>T rs1459151671
NM_153240.5(NPHP3):c.3820G>T (p.Gly1274Ter) rs1939045407
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.3837dup (p.Ala1280fs) rs1559998795
NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.410del (p.Tyr137fs) rs1560017690
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.436del (p.Ser146fs) rs1940156340
NM_153240.5(NPHP3):c.457C>T (p.Gln153Ter)
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153240.5(NPHP3):c.60C>G (p.Tyr20Ter) rs773521620
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.707_716del (p.Ala236fs) rs1349623728
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.238del (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.2491-1G>T rs1565017125
NM_153676.4(USH1C):c.263del (p.Val88fs) rs1850961650
NM_153676.4(USH1C):c.348_373del (p.His116fs) rs2133917820
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.388-1G>A rs1364331716
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.777del (p.Glu260fs)
NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) rs876657624
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
NM_153700.2(STRC):c.3156dup (p.Cys1053fs) rs786200882
NM_153700.2(STRC):c.3499_4701+1del
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter) rs1410072763
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.583C>T (p.Gln195Ter) rs774990944
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
NM_153704.6(TMEM67):c.1057_1065+2del rs1813838655
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1961-2A>C rs758948621
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.6(TMEM67):c.2556+1G>T rs786200867
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter) rs1554615516
NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu) rs267607117
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs) rs745627738
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
NM_153717.3(EVC):c.1086del (p.Glu362fs)
NM_153717.3(EVC):c.1114del (p.Thr372fs)
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) rs2152076522
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) rs1730623318
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) rs2152076745
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
NM_153717.3(EVC):c.1494del (p.Arg498fs) rs2152094799
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) rs373088008
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.155del (p.Arg52fs) rs1439712140
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
NM_153717.3(EVC):c.1618del (p.Leu540fs)
NM_153717.3(EVC):c.1652del (p.Pro551fs) rs1312383000
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) rs539010490
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.174+1G>T rs2151768710
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs) rs2152289369
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
NM_153717.3(EVC):c.1777-2A>C
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1818_1821del (p.His607fs) rs2152326544
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs) rs2152326770
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1900del (p.Val634fs)
NM_153717.3(EVC):c.1971del (p.Thr658fs) rs2152340509
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs) rs2152345583
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) rs1714412021
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.2365del (p.Leu789fs)
NM_153717.3(EVC):c.2376del (p.Tyr793fs) rs1577638781
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
NM_153717.3(EVC):c.241dup (p.Ser81fs)
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) rs2152375194
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2561+1dup rs2152375437
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer) rs2152387847
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
NM_153717.3(EVC):c.267_274del (p.Glu89fs) rs2151842413
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) rs1039706882
NM_153717.3(EVC):c.2705del (p.Phe902fs) rs2152391901
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.286A>T (p.Lys96Ter) rs2151842550
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.338dup (p.Ala114fs) rs2151919221
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.369del (p.Asn124fs)
NM_153717.3(EVC):c.37_38del (p.Arg13fs) rs1722986802
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.478_481del (p.Ser160fs) rs2151935449
NM_153717.3(EVC):c.528del (p.Ser177fs) rs1381525157
NM_153717.3(EVC):c.539C>A (p.Ser180Ter) rs762136199
NM_153717.3(EVC):c.568dup (p.Arg190fs)
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer) rs2151935987
NM_153717.3(EVC):c.596del (p.Pro199fs)
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) rs553634958
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
NM_153717.3(EVC):c.618-2A>G
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
NM_153717.3(EVC):c.635del (p.Cys212fs) rs2151945937
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.673del (p.Asp225fs) rs2151946081
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.708dup (p.Ile237fs)
NM_153717.3(EVC):c.720dup (p.Lys241Ter) rs1553871764
NM_153717.3(EVC):c.721A>T (p.Lys241Ter) rs2152000498
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.784del (p.Leu262fs) rs1560315890
NM_153717.3(EVC):c.784dup (p.Leu262fs)
NM_153717.3(EVC):c.788C>G (p.Ser263Ter) rs2152001027
NM_153717.3(EVC):c.801dup (p.Asp268fs) rs777852863
NM_153717.3(EVC):c.829C>T (p.Gln277Ter) rs1251648799
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs) rs1729197529
NM_153717.3(EVC):c.90del (p.Ala31fs) rs1196950486
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
NM_153717.3(EVC):c.973C>T (p.Gln325Ter) rs1729654379
NM_153717.3(EVC):c.986_987del (p.Val329fs)
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)
NM_153816.2(SNX14):c.1108+1181_2108-2342del
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942
NM_153816.6(SNX14):c.1608+1G>T rs749656742
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) rs1057519561
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_153816.6(SNX14):c.2148+1G>T
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) rs876657385
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) rs876657387
NM_153816.6(SNX14):c.645dup (p.Glu216fs) rs869320748
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) rs202138002
NM_170682.4(P2RX2):c.178G>T (p.Val60Leu) rs587777692
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1968+1G>A rs113436208
NM_170707.4(LMNA):c.1968+5G>A rs797044488
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter) rs1651341099
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter) rs2122226112
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.1181del (p.Leu394fs) rs2122223967
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs) rs1421664374
NM_170784.3(MKKS):c.1272+1G>A rs755716827
NM_170784.3(MKKS):c.1272+2T>C
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs) rs2122220131
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) rs1600849412
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.175_176del (p.Gln59fs) rs2122236167
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs) rs2122235619
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
NM_170784.3(MKKS):c.47del (p.Pro16fs) rs1224308508
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.592_593del (p.Lys198fs) rs2064903228
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) rs2122234652
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.763dup (p.Thr255fs) rs2122234387
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_170784.3(MKKS):c.885dup (p.Val296fs)
NM_170784.3(MKKS):c.889dup (p.Ile297fs) rs2122233990
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.958_959del (p.Leu320fs) rs770908659
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer) rs2122236468
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) rs1316299165
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) rs104894652
NM_173477.5(USH1G):c.1324del (p.Ala442fs)
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.163_164+13del
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
NM_173477.5(USH1G):c.387dup (p.Lys130fs) rs2144755152
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.711del (p.Arg238fs) rs2144754031
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_173477.5(USH1G):c.85dup (p.Asp29fs)
NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser) rs2113077087
NM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs) rs1135402756
NM_173543.3(DZIP1L):c.273G>C (p.Gln91His) rs1135402754
NM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter) rs1135402755
NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)
NM_173551.5(ANKS6):c.1300del (p.Leu434fs)
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) rs1564236717
NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs) rs2118054723
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)
NM_173551.5(ANKS6):c.189_190del (p.Ala64fs)
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) rs587777024
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) rs587777025
NM_173551.5(ANKS6):c.2394+1G>A
NM_173551.5(ANKS6):c.2512-2A>C rs397514258
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) rs1588420907
NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) rs1564228101
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) rs756090222
NM_173551.5(ANKS6):c.907+2T>A rs1438673595
NM_173685.4(NSMCE2):c.346del (p.Ser116fs) rs757613817
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs) rs773917653
NM_173854.6(SLC41A1):c.698G>T (p.Gly233Val) rs2102504055
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) rs1715589813
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs) rs1553776036
NM_174878.3(CLRN1):c.254-2A>G rs1713861377
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro) rs1559982739
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) rs1576631624
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys) rs121908141
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) rs121908142
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet) rs1085307049
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.65T>A (p.Leu22His) rs1576651623
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_174916.3(UBR1):c.2254+2T>C rs2141312913
NM_174916.3(UBR1):c.2379+1G>C
NM_174916.3(UBR1):c.2839+5G>A rs1596106023
NM_174916.3(UBR1):c.4054-2A>G rs780491123
NM_174916.3(UBR1):c.407A>G (p.His136Arg) rs119477054
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter) rs1726067442
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs) rs2149068932
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs) rs1725961307
NM_176824.3(BBS7):c.1250del (p.Leu417fs) rs2149066862
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.133dup (p.Met45fs)
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs) rs1725388372
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter) rs1725385758
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter) rs1394015094
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter) rs2149054103
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1891-1G>A rs2149048173
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
NM_176824.3(BBS7):c.488del (p.Pro163fs) rs2149084861
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer) rs1578564877
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
NM_176824.3(BBS7):c.529-1dup rs1726566546
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
NM_176824.3(BBS7):c.585dup (p.His196fs)
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg) rs1726157542
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) rs1571177726
NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)
NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter) rs1396081975
NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) rs1571147567
NM_177400.3(NKX6-2):c.119del (p.Phe40fs) rs2134707158
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter) rs2134706418
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter) rs2134706311
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp) rs770310729
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_177973.2(SULT2B1):c.364dup (p.Met122fs) rs1114167425
NM_177973.2(SULT2B1):c.71+2T>A rs1114167426
NM_178170.3(NEK8):c.1273C>T (p.His425Tyr) rs118204032
NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter)
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter)
NM_178170.3(NEK8):c.743del (p.Pro248fs) rs1555564134
NM_178170.3(NEK8):c.882_885del (p.Cys295fs) rs2151732872
NM_178172.6(GPIHBP1):c.182-1G>T rs2130672651
NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser) rs587777638
NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly) rs587777639
NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe) rs587777640
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg) rs752728823
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro) rs587777641
NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro) rs587777637
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs) rs587777642
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs) rs2108677025
NM_178335.3(CCDC50):c.1394_1401dup (p.Phe468fs) rs2108677075
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) rs606231285
NM_181741.4(ORC4):c.1226del (p.Thr409fs) rs797045852
NM_181741.4(ORC4):c.1A>G (p.Met1Val) rs1085307083
NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del
NM_182548.4(LHFPL5):c.*16+1G>A rs1445573930
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs) rs2151070794
NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro) rs1554147220
NM_182548.4(LHFPL5):c.649+1del rs1581972457
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter) rs1203553546
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter) rs2096893099
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs) rs606231135
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
NM_182961.4(SYNE1):c.13299del (p.His4433fs) rs1563130387
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) rs866163858
NM_182961.4(SYNE1):c.14278del (p.His4760fs) rs2153970781
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter) rs1563088209
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter) rs1270730854
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs) rs1291249200
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter) rs761432453
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.16804del (p.Met5602fs)
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs) rs886043923
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter) rs777656140
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter) rs2153836962
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs) rs2153809530
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs) rs2153783491
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs) rs2153732048
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter) rs2153709458
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs) rs2153619687
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs) rs1385280819
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs) rs2153537904
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) rs1554247806
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter) rs1269308421
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter) rs1554573328
NM_182961.4(SYNE1):c.225+1del rs2154353746
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs) rs1554553667
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
NM_182961.4(SYNE1):c.24977-13_24996del
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) rs2098713648
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter) rs2154254291
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter) rs757719808
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs) rs2098527248
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter) rs983431074
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter) rs2154194664
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs) rs2154182611
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs) rs2098158268
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter) rs2098101022
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs) rs2154170060
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter) rs1417491327
NM_182961.4(SYNE1):c.67+1G>A rs1213042460
NM_182961.4(SYNE1):c.6724-1G>A rs2154157186
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter) rs2154151091
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs) rs797046026
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs) rs2154147676
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter) rs2154133792
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_182961.4(SYNE1):c.8618C>G (p.Ser2873Ter) rs1332414511
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs) rs2097516516
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter) rs2154115529
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
NM_182961.4(SYNE1):c.[20263C>T;8889del]
NM_183065.4(TMEM107):c.*545_*826del rs1983743862
NM_183065.4(TMEM107):c.*561_*566del rs886039783
NM_183065.4(TMEM107):c.*608_*636dup rs1555525654
NM_183065.4(TMEM107):c.*616T>C rs368446612
NM_183065.4(TMEM107):c.*617C>A rs117735243
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*622G>A rs201266955
NM_183065.4(TMEM107):c.*622G>C rs201266955
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_183065.4(TMEM107):c.*653G>C rs200458465
NM_183065.4(TMEM107):c.*653G>T rs200458465
NM_183065.4(TMEM107):c.*656G>A rs148909909
NM_183065.4(TMEM107):c.*671G>T rs886039784
NM_183065.4(TMEM107):c.*672A>G rs755495846
NM_183065.4(TMEM107):c.*672dup rs1983820983
NM_183065.4(TMEM107):c.*673T>G rs752108301
NM_183065.4(TMEM107):c.*674G>C rs780396107
NM_183065.4(TMEM107):c.*687T>G rs754874209
NM_183065.4(TMEM107):c.*689A>C rs1400162090
NM_183065.4(TMEM107):c.*695G>A rs772667974
NM_183065.4(TMEM107):c.*695G>C rs772667974
NM_183065.4(TMEM107):c.*696A>G rs779456932
NM_183065.4(TMEM107):c.*714T>G rs757122064
NM_183065.4(TMEM107):c.*717G>A rs562912181
NM_183065.4(TMEM107):c.*718G>A rs201686383
NM_183065.4(TMEM107):c.*740C>T rs144429028
NM_183065.4(TMEM107):c.*741C>G rs374135155
NM_183065.4(TMEM107):c.*744T>C rs754582308
NM_183065.4(TMEM107):c.*745C>A rs746503581
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_183065.4(TMEM107):c.*755C>G rs75008470
NM_183065.4(TMEM107):c.*755C>T rs75008470
NM_183065.4(TMEM107):c.*760G>T rs116395281
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg) rs879255246
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs) rs2148060432
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter) rs1403112959
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter) rs1558489384
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs) rs1553353527
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_194248.3(OTOF):c.1962dup (p.Pro655fs) rs751564248
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2406+4A>G rs2148051765
NM_194248.3(OTOF):c.2407-2del
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.2866+1G>A rs2148047884
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) rs2148047301
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) rs1558482554
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4362+1G>C rs1274464930
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4885del (p.His1629fs) rs2148026336
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter) rs753580324
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter) rs953404925
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194248.3(OTOF):c.897+5G>A rs1553356452
NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) rs876661307
NM_194292.3(SASS6):c.1867+2T>A rs1651181046
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg) rs121908598
NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg) rs1157997148
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789+1G>C
NM_198428.3(BBS9):c.1789+1G>T rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.2097dup (p.Asp700fs) rs2128756914
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
NM_198428.3(BBS9):c.244del (p.Glu82fs) rs2128108391
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
NM_198428.3(BBS9):c.2536del (p.Ile846fs) rs1864348159
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
NM_198428.3(BBS9):c.263+1G>T rs137962929
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) rs779588488
NM_198428.3(BBS9):c.621_702+3del
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450
NM_198428.3(BBS9):c.751dup (p.Val251fs) rs2128344662
NM_198428.3(BBS9):c.754del (p.Ser252fs) rs2128344706
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
NM_198428.3(BBS9):c.829del (p.Ile277fs)
NM_198428.3(BBS9):c.839dup (p.Met280fs)
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) rs431905518
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) rs431905517
NM_198999.3(SLC26A5):c.949del (p.Val317fs) rs770663172
NM_199292.2(TH):c.-70G>A rs1372180906
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) rs1571523319
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter) rs772794324
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) rs62636260
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) rs1571544281
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) rs114630940
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) rs1571848166
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) rs778731851
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_201253.3(CRB1):c.[1208C>G];[1576C>T]
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) rs864309673
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)
NM_201384.3(PLEC):c.11187dup (p.Thr3730fs)
NM_201384.3(PLEC):c.1188_1192dup (p.Val398fs)
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) rs864309674
NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)
NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter) rs1554719990
NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter) rs1554671979
NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)
NM_201384.3(PLEC):c.12926dup (p.Arg4310fs) rs2130817714
NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter) rs1554669959
NM_201384.3(PLEC):c.1465_1471del (p.Asn489fs) rs2131949494
NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)
NM_201384.3(PLEC):c.2069_2073del (p.Arg690fs)
NM_201384.3(PLEC):c.2475dup (p.Asp826Ter)
NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter) rs2131772658
NM_201384.3(PLEC):c.2551del (p.Val851fs) rs2131767962
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)
NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)
NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter) rs2131581257
NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter) rs1554702689
NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)
NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)
NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter) rs2131471759
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) rs786205254
NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter) rs2131422085
NM_201384.3(PLEC):c.5192dup (p.Leu1732fs)
NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)
NM_201384.3(PLEC):c.5645_5646del (p.Glu1882fs)
NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)
NM_201384.3(PLEC):c.5734del (p.Leu1912fs) rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) rs786205251
NM_201384.3(PLEC):c.6025del (p.Glu2009fs)
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) rs387906801
NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)
NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)
NM_201384.3(PLEC):c.6510del (p.His2170fs) rs2131325419
NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter) rs2131284343
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter) rs886044894
NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)
NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter) rs376827900
NM_201384.3(PLEC):c.7425+1G>A
NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) rs1554689309
NM_201384.3(PLEC):c.7964_7968del (p.Ala2655fs)
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) rs1186518181
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_201384.3(PLEC):c.8363_8366del (p.Leu2788fs)
NM_201384.3(PLEC):c.8776del (p.Glu2926fs)
NM_201384.3(PLEC):c.8807_8832dup (p.Phe2945fs)
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) rs137853161
NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter) rs1410984638
NM_201384.3(PLEC):c.949del (p.Leu317fs)
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) rs1554681167
NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) rs104894674
NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs) rs777791545
NM_203486.3(DLL3):c.1339_1340insT (p.His447fs)
NM_203486.3(DLL3):c.1440del (p.Pro481fs) rs786200903
NM_203486.3(DLL3):c.395del (p.Gly132fs) rs761454301
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902
NM_203486.3(DLL3):c.871-1G>A rs2144761828
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del
NM_206933.2(USH2A):c.4396+6857_6486-425del
NM_206933.2(USH2A):c.850_853delGAGA
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
NM_206933.4(USH2A):c.10388-1G>A rs1553261478
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.10593del (p.Ile3532fs)
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11174del (p.Phe3725fs) rs1571657875
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) rs1571657777
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.11390-1G>A rs2102727580
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter)
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs) rs1659881415
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs)
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter)
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter)
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) rs1657965422
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter) rs367850936
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter) rs1657939866
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) rs1293619630
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) rs1657929865
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)
NM_206933.4(USH2A):c.13599del (p.Met4535fs) rs2102664886
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter) rs2102664776
NM_206933.4(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del) rs1657799383
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.4(USH2A):c.14649del (p.Ile4883fs) rs1656901821
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14835del (p.Val4946fs) rs2102636076
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.15199del (p.Ile5067fs) rs2102630527
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter) rs1426135314
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) rs1195403033
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter)
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter) rs2102788946
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1803del (p.Gly602fs) rs1553327452
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr)
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter)
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter) rs2036152207
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) rs2036063892
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr)
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) rs1438734382
NM_206933.4(USH2A):c.2809+1G>A rs759433119
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter) rs527236135
NM_206933.4(USH2A):c.3129dup (p.Val1044fs) rs786205115
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer)
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter) rs2034908088
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.3934del (p.Ala1312fs) rs2102464166
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs) rs2034850724
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) rs2034849647
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) rs1308702971
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs)
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.4(USH2A):c.4396+2T>G rs2034687381
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter)
NM_206933.4(USH2A):c.4758+1G>A
NM_206933.4(USH2A):c.485+3A>T rs1553258031
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) rs2032147505
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs) rs2102559650
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs) rs2102554196
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr) rs2039616380
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.612dup (p.Arg205fs) rs2039614529
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs) rs2102524828
NM_206933.4(USH2A):c.6325+1G>A rs1293202153
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) rs727504893
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs)
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr) rs2038569132
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter) rs2102458475
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) rs1667472317
NM_206933.4(USH2A):c.6905del (p.His2302fs) rs2102458388
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter) rs376983577
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter)
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter)
NM_206933.4(USH2A):c.7871del (p.Pro2624fs)
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) rs1665132445
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs) rs2102451863
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764
NM_206933.4(USH2A):c.8714dup (p.His2905fs) rs2102440764
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs) rs786205116
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9258+1G>T rs748810737
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411
NM_206933.4(USH2A):c.9538del (p.Cys3180fs) rs36108227
NM_206933.4(USH2A):c.956G>T (p.Cys319Phe)
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs) rs2102793202
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) rs1662772955
NM_206933.4(USH2A):c.9685del (p.Glu3229fs) rs878853233
NM_206933.4(USH2A):c.9699del (p.His3234fs)
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) rs2102778615
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9945dup (p.Asn3316fs)
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
NM_207361.6(FREM2):c.1266del (p.Asp423fs) rs1869623039
NM_207361.6(FREM2):c.15del (p.Thr6fs) rs1869502750
NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) rs1869683236
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)
NM_207361.6(FREM2):c.3103_3104del (p.Leu1036fs) rs1555261304
NM_207361.6(FREM2):c.3890del (p.Ile1297fs) rs776269575
NM_207361.6(FREM2):c.399del (p.Gly134fs) rs1869545423
NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs) rs1877244252
NM_207361.6(FREM2):c.750_751dup (p.Thr251fs) rs1869579851
NM_207361.6(FREM2):c.7519+1G>A rs1566169711
NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter) rs2133704072
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.3(ANO5):c.108_109del (p.Glu36fs) rs886044020
NM_213599.3(ANO5):c.1158del (p.Phe386fs) rs1564936489
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter) rs1554930267
NM_213599.3(ANO5):c.1222del (p.Leu408fs) rs1853968715
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.3(ANO5):c.1409T>G (p.Met470Arg) rs1403946332
NM_213599.3(ANO5):c.1516del (p.Ser506fs) rs1302414683
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter) rs1486335553
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter) rs1854126127
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter) rs2133747497
NM_213599.3(ANO5):c.1680del (p.Met560fs)
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter) rs2133747657
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter) rs368389717
NM_213599.3(ANO5):c.1737dup (p.Gly580fs) rs759064817
NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter) rs1364860348
NM_213599.3(ANO5):c.1784del (p.Glu595fs)
NM_213599.3(ANO5):c.1794_1798dup (p.Glu600fs)
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter) rs146341538
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys) rs760137559
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) rs794727231
NM_213599.3(ANO5):c.2193_2197del (p.Gln731fs) rs746738154
NM_213599.3(ANO5):c.2236-2_2238dup
NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter) rs1191668273
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528
NM_213599.3(ANO5):c.246del (p.Phe82fs)
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter) rs747146523
NM_213599.3(ANO5):c.284_285del (p.Glu95fs)
NM_213599.3(ANO5):c.294+5G>A rs2133589044
NM_213599.3(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.340del (p.Glu114fs)
NM_213599.3(ANO5):c.352del (p.Glu118fs) rs878854367
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter) rs1554924356
NM_213599.3(ANO5):c.431_432del (p.Ala144fs)
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter) rs570341380
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter) rs794727981
NM_213599.3(ANO5):c.773_774delinsAA (p.Trp258Ter) rs2133663216
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter) rs1590266227
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter) rs1380525804
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter) rs766994696
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter) rs1564930625
NM_213599.3(ANO5):c.873_876del (p.Ile292fs) rs1458677325
NM_213599.3(ANO5):c.898dup (p.Ile300fs) rs1383346134
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter) rs373814281
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
NPC1, IVS16, G-A, -82
NP_000154.1:p.Ala442Serfs*27
NP_000251.3(MYO7A):p.Tyr1302fsTer97
NP_000483.3(CFTR):p.Tyr1092Ter
NP_000483.3:p.Ser549Arg
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_003051.3(RMRP):n.-13_1dup14 rs1554651373
NR_003051.3(RMRP):n.-14_3dup rs878853178
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC rs1554651469
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.3(RMRP):n.-6_-5insCCTGAG rs1554651446
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.94dup rs2131808768
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_023317.1(RNU7-1):n.28C>T rs180837208
NR_023317.1:n.34_50delins25
NR_029422.2(RNU12):n.84C>T
NR_029512.1(MIR96):n.13G>A rs587776522
NR_029512.1(MIR96):n.14C>A rs587776523
PRG4, 2-BP DEL, NT3023
PRG4, IVS6, 41-BP INS
RMRP, 1-BP DEL/21-BP INS, PROMOTER
SGCA, TYR134TER
Single allele
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
USP18, 3-PRIME DEL
c.10_11 ins10bp
c.1180-1181delCT
c.1263+81_1596+?del
c.1323C>T
c.1330-1333delTTCC
c.2475-2A-G
c.599C>T
c.667_684del(664_681del)
del(GJB6-D13S1830)
m.12258C>A rs118203888
nsv930453

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.